Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut RNF38 152006 broad.mit.edu 37 9 36390467 36390467 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:36390467G>A ENST00000259605.6 - 2 266 c.159C>T c.(157-159)ttC>ttT p.F53F RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377885.2_5'UTR|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000357058.3_5'UTR|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000350199.4_Intron NM_022781.4 NP_073618.3 Q9H0F5 RNF38_HUMAN ring finger protein 38 53 zinc ion binding breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1) 11 STAD - Stomach adenocarcinoma(86;0.228) TAAGAACCTGGAAGAAAGCTT 0.438000 25 34 0 0 0.005443 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819632 50819632 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:50819632C>T ENST00000374115.3 + 1 1286 c.846C>T c.(844-846)atC>atT p.I282I CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 282 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 GCACTCCCATCCACCGCCTCA 0.652000 20 48 0 0 0.002299 0 0 ABCA13 154664 broad.mit.edu 37 7 48356767 48356767 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:48356767G>A ENST00000435803.1 + 27 9897 c.9873G>A c.(9871-9873)ttG>ttA p.L3291L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3291 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CGTTTTGCTTGAAGCTTTATC 0.378000 14 36 0 0 0.002450 0 0 OR2B6 26212 broad.mit.edu 37 6 27925685 27925685 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:27925685C>T ENST00000244623.1 + 1 667 c.667C>T c.(667-669)Cga>Tga p.R223* NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTTTATTGTCCGAGCAGTATT 0.418000 35 143 0 0 0.003755 0 0 PAX1 5075 broad.mit.edu 37 20 21687255 21687255 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:21687255G>A ENST00000398485.2 + 2 520 c.466G>A c.(466-468)Gag>Aag p.E156K PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.E132K NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 156 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding p.E62K(1) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GCGCTACAACGAGACCGGCTC 0.652000 24 68 0 0 0.003330 0 0 NPR2 4882 broad.mit.edu 37 9 35800027 35800027 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:35800027C>T ENST00000342694.2 + 4 1251 c.996C>T c.(994-996)ctC>ctT p.L332L NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 332 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) AGATGAACCTCATCGCTGGCT 0.527000 37 65 0 0 0.003755 0 0 SSH2 85464 broad.mit.edu 37 17 27963649 27963649 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:27963649G>A ENST00000269033.3 - 14 1669 c.1518C>T c.(1516-1518)gtC>gtT p.V506V SSH2_ENST00000540801.1_Silent_p.V533V|RP11-68I3.2_ENST00000581474.1_RNA NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 506 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTTCCACAAAGACAGGAGGTA 0.468000 35 63 0 0 0.007835 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110412521 110412521 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:110412521G>A ENST00000378402.5 + 13 1333 c.1229G>A c.(1228-1230)gGt>gAt p.G410D NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 410 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TACATCAAGGGTGATGACCGT 0.388000 HNSCC(38;0.096) 56 114 0 0 0.003610 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101776579 101776579 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:101776579C>T ENST00000334289.3 - 4 837 c.e4-1 NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) TGCAAATTTCCTTAACCATAA 0.274000 5 29 0 0 0.000602 0 0 FGD3 89846 broad.mit.edu 37 9 95776252 95776252 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:95776252G>A ENST00000375482.3 + 9 1650 c.1154G>A c.(1153-1155)gGc>gAc p.G385D FGD3_ENST00000416701.2_Missense_Mutation_p.G385D|FGD3_ENST00000337352.6_Missense_Mutation_p.G385D NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 385 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 GCCAAGAACGGCACCCCCCAG 0.617000 21 56 0 0 0.002299 0 0 WWTR1 25937 broad.mit.edu 37 3 149375082 149375082 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:149375082G>A ENST00000465804.1 - 3 268 c.12C>T c.(10-12)gcC>gcT p.A4A WWTR1-AS1_ENST00000495094.1_RNA|WWTR1_ENST00000467467.1_Silent_p.A4A|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1_ENST00000360632.3_Silent_p.A4A NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 4 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GGGGCGCCGAGGCCGGATTCA 0.562000 T CAMTA1 epitheliod hemangioendothelioma 18 13 0 0 0.007413 0 0 SECISBP2 79048 broad.mit.edu 37 9 91949602 91949602 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:91949602C>T ENST00000375807.3 + 7 1117 c.1046C>T c.(1045-1047)cCt>cTt p.P349L SECISBP2_ENST00000339901.4_Missense_Mutation_p.P276L|SECISBP2_ENST00000534113.2_Missense_Mutation_p.P281L NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 349 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 TCTTCGGATCCTTCCTACAAC 0.388000 14 26 0 0 0.001855 0 0 CD33 945 broad.mit.edu 37 19 51742917 51742917 + Missense_Mutation SNP G G A rs148758925 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:51742917G>A ENST00000262262.4 + 7 1090 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K CD33_ENST00000421133.2_Missense_Mutation_p.E230K|CD33_ENST00000600557.1_3'UTR NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 357 cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CACCTCCACCGAATACTCAGA 0.527000 11 37 0 0 0.000978 0 0 OSBPL5 114879 broad.mit.edu 37 11 3109521 3109521 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:3109521G>A ENST00000263650.7 - 22 2713 c.2554C>T c.(2554-2556)Cca>Tca p.P852S OSBPL5_ENST00000525498.1_Missense_Mutation_p.P763S|OSBPL5_ENST00000478260.1_Missense_Mutation_p.P306S|OSBPL5_ENST00000542243.1_Missense_Mutation_p.P483S|OSBPL5_ENST00000389989.3_Missense_Mutation_p.P784S|OSBPL5_ENST00000348039.5_Missense_Mutation_p.P784S NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 852 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AGGAGGCCTGGGGTCGGTGCC 0.632000 27 1 0 0 0.007291 0 0 MCM3AP 8888 broad.mit.edu 37 21 47662798 47662798 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:47662798C>T ENST00000397708.1 - 26 5598 c.5344G>A c.(5344-5346)Gat>Aat p.D1782N MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.D1782N|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1782 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TTTTTCAAATCGTTTTTAAAA 0.443000 12 73 0 0 0.001368 0 0 IGSF1 3547 broad.mit.edu 37 X 130415851 130415851 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:130415851G>A ENST00000370904.1 - 14 2197 c.1287C>T c.(1285-1287)acC>acT p.T429T IGSF1_ENST00000370903.3_Silent_p.T438T|IGSF1_ENST00000361420.3_Silent_p.T438T|IGSF1_ENST00000370910.1_Silent_p.T429T Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 438 Ig-like C2-type 5. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGCACTGAAGGGTGATGGCCT 0.468000 34 1 0 0 0.003755 0 0 PSD4 23550 broad.mit.edu 37 2 113953731 113953731 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:113953731G>A ENST00000245796.6 + 12 2428 c.2233G>A c.(2233-2235)Gaa>Aaa p.E745K PSD4_ENST00000441564.2_Missense_Mutation_p.E717K NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 745 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAGGGATGAAGAAGACACAGC 0.552000 21 64 0 0 0.002299 0 0 RIMS4 140730 broad.mit.edu 37 20 43386794 43386794 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:43386794C>T ENST00000372851.3 - 3 334 c.268G>A c.(268-270)Gac>Aac p.D90N RIMS4_ENST00000541604.2_Missense_Mutation_p.D91N NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 90 exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) AACTGGGCGTCCGACGCCAGG 0.582000 7 44 0 0 0.001984 0 0 TEK 7010 broad.mit.edu 37 9 27228234 27228234 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:27228234G>A ENST00000380036.4 + 22 3673 c.3231G>A c.(3229-3231)gaG>gaA p.E1077E TEK_ENST00000406359.4_Silent_p.E1034E|TEK_ENST00000519097.1_Silent_p.E929E NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 1077 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) GCTGGCGGGAGAAGCCTTATG 0.423000 31 36 0 0 0.006999 0 0 SCAND3 114821 broad.mit.edu 37 6 28543161 28543161 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:28543161C>T ENST00000452236.2 - 3 1938 c.1321G>A c.(1321-1323)Gaa>Aaa p.E441K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 441 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.E441K(1) NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CTTGAAAATTCCCTCCCATTG 0.418000 53 23 0 0 0.003610 0 0 CNN2 1265 broad.mit.edu 37 19 1037643 1037643 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:1037643G>A ENST00000263097.4 + 7 1037 c.674G>A c.(673-675)gGg>gAg p.G225E CNN2_ENST00000562958.2_Missense_Mutation_p.G246E|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Missense_Mutation_p.G214E|CNN2_ENST00000348419.3_Missense_Mutation_p.G186E NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 225 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGGCTCCCGGGACCCGGCGG 0.617000 84 63 0 0 0.003610 0 0 NOMO1 23420 broad.mit.edu 37 16 14947435 14947435 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:14947435T>A ENST00000287667.7 + 8 1018 c.847T>A c.(847-849)Tcc>Acc p.S283T NOMO1_ENST00000566883.1_3'UTR NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 283 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 CTCTTTCTATTCCTTGCCAAG 0.493000 157 152 0 0 0.003610 0 0 LYST 1130 broad.mit.edu 37 1 235973358 235973358 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:235973358G>A ENST00000389794.3 - 5 934 c.760C>T c.(760-762)Cca>Tca p.P254S LYST_ENST00000389793.2_Missense_Mutation_p.P254S|LYST_ENST00000536965.1_Missense_Mutation_p.P254S Q99698 LYST_HUMAN lysosomal trafficking regulator 254 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAGTCAAATGGAGAATTGTTC 0.363000 27 69 0 0 0.005443 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169539830 169539830 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:169539830C>T ENST00000340806.6 + 1 121 c.121C>T c.(121-123)Cct>Tct p.P41S NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 41 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GACTGCCATTCCTTTGGAGAT 0.378000 29 71 0 0 0.002836 0 0 TRPM8 79054 broad.mit.edu 37 2 234871952 234871952 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:234871952C>T ENST00000324695.4 + 13 1720 c.1680C>T c.(1678-1680)ccC>ccT p.P560P TRPM8_ENST00000433712.2_Silent_p.P248P NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 560 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CTCGGCACCCCCTGCAAGCTC 0.507000 14 18 0 0 0.004990 0 0 VPS13D 55187 broad.mit.edu 37 1 12445353 12445353 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:12445353C>T ENST00000358136.3 + 59 11535 c.11405C>T c.(11404-11406)tCa>tTa p.S3802L VPS13D_ENST00000356315.4_Missense_Mutation_p.S3777L|VPS13D_ENST00000496628.1_3'UTR NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3801 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGCAGCCGTTCATATGAAGTG 0.388000 11 23 0 0 0.001368 0 0 ZNF283 284349 broad.mit.edu 37 19 44351843 44351843 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:44351843C>A ENST00000324461.7 + 7 1387 c.1090C>A c.(1090-1092)Cag>Aag p.Q364K ZNF283_ENST00000588797.1_Missense_Mutation_p.Q225K NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TCAGCTTACTCAGCATCAGAA 0.388000 20 78 1.15919e-05 1.86906e-05 0.001216 1 0 IGHV1-45 28466 broad.mit.edu 37 14 106963108 106963108 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:106963108C>T ENST00000390621.2 - 0 231 GTCCGGGGGCCTGTCGCACCC 0.552000 21 46 0 0 0.003330 0 0 RICTOR 253260 broad.mit.edu 37 5 38959321 38959321 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:38959321G>A ENST00000357387.3 - 22 2184 c.2154C>T c.(2152-2154)tcC>tcT p.S718S RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Silent_p.S718S NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 718 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TTAAAATTTTGGAAAGGATGA 0.333000 11 73 0 0 0.003163 0 0 IGF1R 3480 broad.mit.edu 37 15 99500587 99500587 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:99500587C>T ENST00000268035.6 + 21 4631 c.4020C>T c.(4018-4020)ttC>ttT p.F1340F RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Silent_p.F1339F NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 1340 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GCGCCAGCTTCGACGAGAGAC 0.667000 22 30 0 0 0.002299 0 0 CACNA1H 8912 broad.mit.edu 37 16 1250394 1250394 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:1250394C>T ENST00000348261.5 + 7 1190 c.942C>T c.(940-942)ccC>ccT p.P314P CACNA1H_ENST00000565831.1_Silent_p.P314P|CACNA1H_ENST00000358590.4_Silent_p.P314P NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 314 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TGCGCATGCCCTGCACCCTGG 0.677000 4 5 0 0 0.000602 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147163 26147163 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:26147163G>A ENST00000331351.5 + 2 1357 c.965G>A c.(964-966)gGg>gAg p.G322E HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 322 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) CGGACCCTCGGGCTGATCGAT 0.547000 96 72 0 0 0.003610 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47366065 47366065 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:47366065G>A ENST00000505841.1 - 0 44 NR_002788.2 TCAGCAGCAAGAAGGGGTGAG 0.547000 10 11 0 0 0.000673 0 0 UTP14A 10813 broad.mit.edu 37 X 129063461 129063461 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:129063461C>T ENST00000394422.3 + 15 2221 c.2193C>T c.(2191-2193)ccC>ccT p.P731P UTP14A_ENST00000371042.3_Silent_p.P563P|UTP14A_ENST00000371051.5_Silent_p.P677P|UTP14A_ENST00000425117.2_Silent_p.P679P|RP4-537K23.4_ENST00000432062.1_RNA NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 731 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 TCATTAACCCCATAAAAGCAG 0.512000 12 36 0 0 0.001855 0 0 TBC1D4 9882 broad.mit.edu 37 13 75861030 75861030 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:75861030G>A ENST00000377636.3 - 21 4141 c.3795C>T c.(3793-3795)ctC>ctT p.L1265L TBC1D4_ENST00000377625.2_Silent_p.L1202L|TBC1D4_ENST00000425511.1_Silent_p.L429L|TBC1D4_ENST00000431480.2_Silent_p.L1257L NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1265 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GCAGCTTCCGGAGTTGCTCCA 0.448000 26 24 0 0 0.004656 0 0 PTPRF 5792 broad.mit.edu 37 1 44070902 44070902 + Silent SNP G G A rs143712248 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:44070902G>A ENST00000359947.4 + 18 3517 c.3177G>A c.(3175-3177)tcG>tcA p.S1059S PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.S407S|PTPRF_ENST00000438120.1_Silent_p.S1050S|PTPRF_ENST00000372413.3_Silent_p.S1050S|PTPRF_ENST00000372414.3_Silent_p.S1059S NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1059 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACGGGCACTCGATGCGGAAGC 0.612000 14 20 0 0 0.002450 0 0 RORB 6096 broad.mit.edu 37 9 77282800 77282800 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:77282800C>T ENST00000376896.2 + 8 1706 c.1094C>T c.(1093-1095)gCt>gTt p.A365V RORB_ENST00000396204.2_Missense_Mutation_p.A376V NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 376 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 TTCTCATCTGCTGTTCTGATA 0.398000 18 39 0 0 0.002299 0 0 OR52M1 119772 broad.mit.edu 37 11 4566714 4566714 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:4566714C>T ENST00000360213.1 + 1 294 c.294C>T c.(292-294)gcC>gcT p.A98A NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCTGGACGCCTGCTTGGGCC 0.517000 48 13 0 0 0.003610 0 0 OR2G3 81469 broad.mit.edu 37 1 247769401 247769401 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:247769401C>T ENST00000320002.2 + 1 546 c.514C>T c.(514-516)Cat>Tat p.H172Y RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTGTGGCAACCATAGGCTGGA 0.463000 16 65 0 0 0.006122 0 0 FLG2 388698 broad.mit.edu 37 1 152323862 152323862 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:152323862C>T ENST00000388718.5 - 3 6472 c.6400G>A c.(6400-6402)Gga>Aga p.G2134R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2134 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGACTCTCCATGTTGAGAT 0.522000 90 339 0 0 0.003610 0 0 ADAM12 8038 broad.mit.edu 37 10 127782640 127782640 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:127782640G>A ENST00000368679.4 - 11 1377 c.1068C>T c.(1066-1068)ttC>ttT p.F356F ADAM12_ENST00000368676.4_Silent_p.F356F NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 356 Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding p.F356F(3) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GATTCATCCCGAAATTGTGGC 0.502000 34 28 0 0 0.002445 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44505700 44505700 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:44505700C>T ENST00000255152.2 + 2 712 c.503C>T c.(502-504)cCt>cTt p.P168L ZSWIM3_ENST00000454862.2_Missense_Mutation_p.P162L NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 168 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) GGCATCACTCCTTCTGACCTG 0.493000 41 65 0 0 0.002522 0 0 TAB1 10454 broad.mit.edu 37 22 39817844 39817844 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:39817844C>T ENST00000216160.6 + 8 851 c.789C>T c.(787-789)tcC>tcT p.S263S TAB1_ENST00000331454.3_Silent_p.S263S NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 263 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 CTGCCAAGTCCAAACCAATCA 0.577000 15 76 0 0 0.003163 0 0 TNXB 7148 broad.mit.edu 37 6 32023874 32023874 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32023874C>T ENST00000375244.3 - 24 8422 c.8221G>A c.(8221-8223)Gag>Aag p.E2741K TNXB_ENST00000375247.2_Missense_Mutation_p.E2741K P22105 TENX_HUMAN tenascin XB 2799 Fibronectin type-III 19. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACTGTCAGCTCCCCCAGGAGC 0.627000 156 462 0 0 0.003610 0 0 SND1 27044 broad.mit.edu 37 7 127341362 127341362 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:127341362C>T ENST00000354725.3 + 5 768 c.574C>T c.(574-576)Cag>Tag p.Q192* NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 192 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 CTCACACCACCAGAAGCCTGT 0.463000 75 7 0 0 0.003610 0 0 FOXI1 2299 broad.mit.edu 37 5 169535234 169535234 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:169535234G>A ENST00000306268.6 + 2 817 c.756G>A c.(754-756)ttG>ttA p.L252L FOXI1_ENST00000449804.2_Intron Q12951 FOXI1_HUMAN forkhead box I1 252 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGACATCTTGGATGGAGCCT 0.597000 Pendred syndrome 29 40 0 0 0.001512 0 0 PRSS12 8492 broad.mit.edu 37 4 119204249 119204249 + Missense_Mutation SNP C C T rs138052286 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:119204249C>T ENST00000296498.3 - 12 2339 c.2057G>A c.(2056-2058)aGg>aAg p.R686K PRSS12_ENST00000510903.1_5'UTR NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 686 Peptidase S1. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 AGCATAGCTCCTAGTGCTGTT 0.413000 35 63 0 0 0.004289 0 0 SLC6A3 6531 broad.mit.edu 37 5 1443098 1443098 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:1443098G>A ENST00000270349.9 - 2 342 c.215C>T c.(214-216)tCc>tTc p.S72F SLC6A3_ENST00000453492.2_Missense_Mutation_p.S72F NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 72 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body p.S72F(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GCCAATGACGGACAGGAGAAA 0.612000 19 65 0 0 0.007413 0 0 TTC3 7267 broad.mit.edu 37 21 38529064 38529064 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:38529064G>A ENST00000399017.2 + 28 5595 c.2848G>A c.(2848-2850)Gac>Aac p.D950N TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.D950N|TTC3_ENST00000354749.2_Missense_Mutation_p.D950N NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 950 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TCACAAACTAGACTCTATAGA 0.388000 9 61 0 0 0.004482 0 0 CENPT 80152 broad.mit.edu 37 16 67866145 67866145 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:67866145T>C ENST00000562787.1 - 6 823 c.275A>G c.(274-276)aAc>aGc p.N92S CENPT_ENST00000219172.3_Missense_Mutation_p.N92S|CENPT_ENST00000564817.1_Missense_Mutation_p.N92S|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000445712.2_Intron|CENPT_ENST00000440851.2_Missense_Mutation_p.N92S NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 92 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) TAGTAGGATGTTCTTCAGCAG 0.537000 41 23 0 0 0.003610 0 0 DCDC1 341019 broad.mit.edu 37 11 30928159 30928159 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:30928159G>A ENST00000597505.1 - 28 4031 c.4032C>T c.(4030-4032)ttC>ttT p.F1344F DCDC1_ENST00000339794.5_Silent_p.F423F|DCDC1_ENST00000406071.2_Silent_p.F79F P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) AAATACAGAGGAATGGAACCC 0.463000 13 4 0 0 0.002450 0 0 GREB1 9687 broad.mit.edu 37 2 11728976 11728976 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:11728976G>A ENST00000381486.2 + 10 1564 c.1264G>A c.(1264-1266)Gag>Aag p.E422K GREB1_ENST00000234142.5_Missense_Mutation_p.E422K|GREB1_ENST00000381483.2_Missense_Mutation_p.E422K NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 422 integral to membrane p.E422K(2) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) ACGGGCATACGAGCAGTACGG 0.587000 23 57 0 0 0.004656 0 0 SCNN1A 6337 broad.mit.edu 37 12 6463648 6463648 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:6463648G>A ENST00000358945.3 - 7 1756 c.1316C>T c.(1315-1317)cCc>cTc p.P439L SCNN1A_ENST00000228916.2_Missense_Mutation_p.P439L|SCNN1A_ENST00000396966.2_Missense_Mutation_p.P439L|SCNN1A_ENST00000543768.1_Missense_Mutation_p.P462L|SCNN1A_ENST00000360168.3_Missense_Mutation_p.P498L|SCNN1A_ENST00000540037.1_Missense_Mutation_p.P139L|SCNN1A_ENST00000538979.1_5'UTR P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 439 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) CACGTTCTGGGGCCGCGGATA 0.582000 9 31 0 0 0.004482 0 0 GABRB3 2562 broad.mit.edu 37 15 26825604 26825604 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:26825604C>T ENST00000541819.2 - 7 815 c.e7-1 GABRB3_ENST00000545868.1_Splice_Site|GABRB3_ENST00000311550.5_Splice_Site|GABRB3_ENST00000299267.4_Splice_Site|GABRB3_ENST00000400188.3_Splice_Site P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.?(3) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTGTAGCCATCTGCCAAGAGA 0.493000 12 48 0 0 0.004007 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48719196 48719196 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:48719196G>A ENST00000294129.2 - 5 735 c.616C>T c.(616-618)Ccc>Tcc p.P206S NCKIPSD_ENST00000416649.2_Missense_Mutation_p.P199S|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.P206S NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain 206 Pro-rich.|Ser/Thr-rich. cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCCCCGGAGGGCATGGTGTTG 0.622000 6 2 0 0 0.001984 0 0 GCSAML 148823 broad.mit.edu 37 1 247737445 247737445 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:247737445G>A ENST00000366491.2 + 7 606 c.108_splice c.e7-1 p.E37_splice GCSAML_ENST00000536561.1_Splice_Site_p.E37_splice|GCSAML_ENST00000527084.1_Splice_Site_p.E25_splice|GCSAML_ENST00000366488.4_Splice_Site_p.E57_splice|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000527541.1_Splice_Site_p.E25_splice|GCSAML_ENST00000366489.1_Splice_Site_p.E37_splice|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000463359.1_Splice_Site_p.E25_splice germinal center-associated, signaling and motility-like TGCTTGGCAGGAAAACGAGAA 0.438000 34 95 0 0 0.005524 0 0 IDH3G 3421 broad.mit.edu 37 X 153056285 153056285 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:153056285G>A ENST00000370092.3 - 2 288 c.103C>T c.(103-105)Ccc>Tcc p.P35S IDH3G_ENST00000370093.1_Missense_Mutation_p.P35S|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_5'UTR|IDH3G_ENST00000217901.5_Missense_Mutation_p.P35S NM_174869.2 NP_777358.1 P51553 IDH3G_HUMAN isocitrate dehydrogenase 3 (NAD+) gamma 35 carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleolus ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1) 17 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) TTCCTCGAGGGGACCTCGTGG 0.567000 27 5 0 0 0.007291 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869154 22869154 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:22869154G>A ENST00000302097.3 - 2 1053 c.801C>T c.(799-801)ccC>ccT p.P267P NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TTTCTTTCTTGGGATCAAAGG 0.433000 18 100 0 0 0.006122 0 0 CLEC16A 23274 broad.mit.edu 37 16 11272495 11272495 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:11272495C>T ENST00000409790.1 + 24 3340 c.3110C>T c.(3109-3111)cCc>cTc p.P1037L CLEC16A_ENST00000381822.2_Missense_Mutation_p.P124L NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 1037 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TGCACAGAGCCCGTGGGCGAA 0.692000 4 8 0 0 0.000248 0 0 RAB5C 5878 broad.mit.edu 37 17 40278855 40278855 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:40278855G>A ENST00000393860.3 - 6 769 c.453C>T c.(451-453)gcC>gcT p.A151A RAB5C_ENST00000547517.1_Silent_p.A184A|CTD-2132N18.3_ENST00000592574.1_Intron|RAB5C_ENST00000346213.4_Silent_p.A151A NM_201434.2 NP_958842.1 P51148 RAB5C_HUMAN RAB5C, member RAS oncogene family 151 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) CGTCTGCATAGGCTTGTGCTT 0.512000 62 114 0 0 0.003610 0 0 GRK7 131890 broad.mit.edu 37 3 141497611 141497611 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:141497611C>T ENST00000264952.2 + 1 622 c.485C>T c.(484-486)cCc>cTc p.P162L NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 162 RGS. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CAAGAGCAGCCCTTTAAGGAT 0.547000 20 56 0 0 0.002780 0 0 GOT1 2805 broad.mit.edu 37 10 101163312 101163312 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:101163312G>A ENST00000370508.5 - 7 900 c.873C>T c.(871-873)atC>atT p.I291I GOT1_ENST00000543866.1_Silent_p.I270I NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 291 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TAATCCGCACGATCTTCTCCA 0.537000 29 70 0 0 0.001786 0 0 DNAH9 1770 broad.mit.edu 37 17 11687804 11687804 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:11687804G>A ENST00000262442.3 + 41 8077 c.8009G>A c.(8008-8010)gGa>gAa p.G2670E DNAH9_ENST00000454412.2_Missense_Mutation_p.G2670E NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2670 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTACCCACAGGAATCAAATTC 0.517000 66 56 0 0 0.003610 0 0 GRIA4 2893 broad.mit.edu 37 11 105842677 105842677 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:105842677G>A ENST00000282499.5 + 15 2777 c.2331G>A c.(2329-2331)gaG>gaA p.E777E GRIA4_ENST00000525187.1_Intron|GRIA4_ENST00000393127.2_Intron|GRIA4_ENST00000530497.1_Silent_p.E777E|GRIA4_ENST00000533094.1_Intron NM_000829.3 NP_000820.3 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 777 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AACTCAGTGAGGCAGGCGTCT 0.403000 23 24 0 0 0.003330 0 0 LTBP2 4053 broad.mit.edu 37 14 74978046 74978046 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:74978046G>A ENST00000261978.4 - 19 3316 c.2930C>T c.(2929-2931)cCc>cTc p.P977L LTBP2_ENST00000556690.1_Missense_Mutation_p.P977L NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 977 Cys-rich.|EGF-like 7; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GCAGGTACCGGGGTGACGGCA 0.567000 31 17 0 0 0.004289 0 0 SETDB2 83852 broad.mit.edu 37 13 50042072 50042072 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:50042072C>T ENST00000354234.4 + 5 1187 c.281C>T c.(280-282)tCc>tTc p.S94F SETDB2_ENST00000317257.8_Missense_Mutation_p.S106F|SETDB2_ENST00000258672.5_Missense_Mutation_p.S94F NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 106 cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) TGTGAAAACTCCTTTCCAGAA 0.328000 4 20 0 0 0.000248 0 0 ITGAM 3684 broad.mit.edu 37 16 31308886 31308886 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:31308886G>A ENST00000544665.3 + 13 1479 c.1408G>A c.(1408-1410)Ggc>Agc p.G470S ITGAM_ENST00000287497.8_Missense_Mutation_p.G470S NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 470 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GGACAGCAACGGCAGCACCGA 0.637000 47 109 0 0 0.003610 0 0 LMAN1 3998 broad.mit.edu 37 18 57021803 57021803 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:57021803G>A ENST00000251047.5 - 4 1204 c.487C>T c.(487-489)Cct>Tct p.P163S NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 163 L-type lectin-like. blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) ACTATAGCAGGATTATTTTTC 0.284000 8 50 0 0 0.003080 0 0 HPSE 10855 broad.mit.edu 37 4 84243433 84243433 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:84243433G>A ENST00000405413.2 - 3 448 c.312C>T c.(310-312)ttC>ttT p.F104F HPSE_ENST00000512196.1_Silent_p.F104F|HPSE_ENST00000311412.5_Silent_p.F104F|HPSE_ENST00000513463.1_Silent_p.F104F NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase 104 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) TCTTGGGATCGAAAATTAGGA 0.418000 6 23 0 0 0.001168 0 0 DUSP5 1847 broad.mit.edu 37 10 112266805 112266805 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:112266805G>A ENST00000369583.3 + 3 925 c.641G>A c.(640-642)cGg>cAg p.R214Q DUSP5_ENST00000468749.1_3'UTR NM_004419.3 NP_004410.3 Q16690 DUS5_HUMAN dual specificity phosphatase 5 214 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 13 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) GTCTCCCGACGGACCTCCGAG 0.552000 75 90 0 0 0.003610 0 0 MROH7 374977 broad.mit.edu 37 1 55167895 55167895 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:55167895G>A ENST00000414150.2 + 20 3696 c.3418G>A c.(3418-3420)Gag>Aag p.E1140K MROH7_ENST00000454855.2_Missense_Mutation_p.E658K|MROH7_ENST00000409996.1_Missense_Mutation_p.E708K|MROH7_ENST00000421030.2_Missense_Mutation_p.E1140K maestro heat-like repeat family member 7 GACCATGCAGGAGGGCAACTC 0.617000 5 8 0 0 0.000602 0 0 STARD8 9754 broad.mit.edu 37 X 67937560 67937560 + Silent SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:67937560T>A ENST00000252336.6 + 5 936 c.564T>A c.(562-564)ggT>ggA p.G188G STARD8_ENST00000374597.3_Silent_p.G188G|STARD8_ENST00000374599.3_Silent_p.G268G NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 188 G -> S (in a breast cancer sample; somatic mutation). regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 CCTCAGCCGGTGGCAGTGGTG 0.612000 4 9 0 0 0.000602 0 0 FOXI1 2299 broad.mit.edu 37 5 169535329 169535329 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:169535329C>T ENST00000306268.6 + 2 912 c.851C>T c.(850-852)tCt>tTt p.S284F FOXI1_ENST00000449804.2_Intron Q12951 FOXI1_HUMAN forkhead box I1 284 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCCTTTCCTCTATGACAGCC 0.637000 Pendred syndrome 17 68 0 0 0.007413 0 0 STEAP2 261729 broad.mit.edu 37 7 89866207 89866207 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:89866207C>T ENST00000394626.1 + 6 1671 c.1336C>T c.(1336-1338)Ctt>Ttt p.L446F STEAP2_ENST00000394632.1_Silent_p.I396I|STEAP2_ENST00000394629.2_Missense_Mutation_p.L446F|STEAP2_ENST00000287908.3_3'UTR|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394622.2_3'UTR NM_001244945.1 NP_001231874.1 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 0 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) CTTTAAAGATCTTTTGCAGCT 0.383000 32 47 0 0 0.004878 0 0 CSF1 1435 broad.mit.edu 37 1 110466588 110466588 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:110466588C>T ENST00000329608.6 + 6 1736 c.1345C>T c.(1345-1347)Cgg>Tgg p.R449W CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.R449W|CSF1_ENST00000344188.5_Intron NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 449 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CACCAGGGATCGGAGGAGCCC 0.647000 25 25 0 0 0.004656 0 0 DDX51 317781 broad.mit.edu 37 12 132627287 132627287 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:132627287G>A ENST00000397333.3 - 3 694 c.656C>T c.(655-657)tCg>tTg p.S219L NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 219 rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) AAAGTAGGACGAGATGCCGTG 0.622000 16 25 0 0 0.004990 0 0 OR4M1 441670 broad.mit.edu 37 14 20248886 20248886 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:20248886C>T ENST00000315957.4 + 1 486 c.405C>T c.(403-405)atC>atT p.I135I NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGCTACCATCATGAATCGAC 0.498000 96 573 0 0 0.003610 0 0 CCDC88A 55704 broad.mit.edu 37 2 55566617 55566617 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:55566617G>A ENST00000436346.1 - 13 2342 c.1501C>T c.(1501-1503)Caa>Taa p.Q501* CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.Q501*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.Q501*|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.Q501*|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 501 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 CTGAGCCTTTGATTTTCTTTT 0.299000 13 12 0 0 0.002450 0 0 DISP2 85455 broad.mit.edu 37 15 40659901 40659901 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:40659901C>T ENST00000267889.3 + 8 1675 c.1588C>T c.(1588-1590)Ctt>Ttt p.L530F NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 530 SSD. smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) GGCCTTCTTCCTTTACCAGGT 0.607000 19 44 0 0 0.001523 0 0 BSDC1 55108 broad.mit.edu 37 1 32833963 32833963 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:32833963G>A ENST00000341071.7 - 10 1407 c.1396C>T c.(1396-1398)Cag>Tag p.Q466* BSDC1_ENST00000413080.1_Intron|BSDC1_ENST00000455895.2_Intron|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000446293.2_Intron|BSDC1_ENST00000463967.1_5'UTR|BSDC1_ENST00000419121.2_Intron Q9NW68 BSDC1_HUMAN BSD domain containing 1 277 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GGACCCTCCTGAGGGGACAGC 0.622000 12 7 0 0 0.001368 0 0 PHF21B 112885 broad.mit.edu 37 22 45312465 45312465 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:45312465C>T ENST00000313237.5 - 4 409 c.259G>A c.(259-261)Ggc>Agc p.G87S PHF21B_ENST00000447824.3_Missense_Mutation_p.G75S|PHF21B_ENST00000396103.3_Missense_Mutation_p.G87S|PHF21B_ENST00000404079.2_Missense_Mutation_p.G75S|PHF21B_ENST00000403565.1_5'UTR NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 87 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CGGTCCCGGCCCGGGGCAACG 0.632000 59 26 0 0 0.003610 0 0 TNFRSF10B 8795 broad.mit.edu 37 8 22900656 22900656 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:22900656G>A ENST00000276431.4 - 2 529 c.245C>T c.(244-246)cCa>cTa p.P82L TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Intron|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.P82L NM_003842.4|NM_147187.2 NP_003833.4|NP_671716.2 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, member 10b 82 activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) CATACCAGGTGGACACAATCC 0.532000 4 5 0 0 0.000602 0 0 AP1M2 10053 broad.mit.edu 37 19 10687881 10687881 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:10687881G>A ENST00000590923.1 - 9 1129 c.1046C>T c.(1045-1047)tCt>tTt p.S349F AP1M2_ENST00000250244.6_Missense_Mutation_p.S347F Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 347 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) TACCGGGAAAGACTTAATACT 0.587000 4 9 0 0 0.000248 0 0 FAM47A 158724 broad.mit.edu 37 X 34148669 34148669 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:34148669C>T ENST00000346193.3 - 1 1778 c.1727G>A c.(1726-1728)cGa>cAa p.R576Q NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 576 p.R576Q(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GTAGGATGCTCGAATCTTGGG 0.512000 34 4 0 0 0.003271 0 0 RFPL1 5988 broad.mit.edu 37 22 29835098 29835098 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:29835098G>A ENST00000354373.2 + 1 527 c.318G>A c.(316-318)ctG>ctA p.L106L RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 106 zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TCAAGGAACTGGAGCCCAAGC 0.527000 38 128 0 0 0.006999 0 0 KCNT1 57582 broad.mit.edu 37 9 138670594 138670594 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:138670594G>A ENST00000298480.5 + 23 2729 c.2655G>A c.(2653-2655)aaG>aaA p.K885K KCNT1_ENST00000371757.2_Silent_p.K885K|KCNT1_ENST00000486577.2_Silent_p.K844K|KCNT1_ENST00000263604.3_Silent_p.K866K|KCNT1_ENST00000491806.2_Silent_p.K852K|KCNT1_ENST00000488444.2_Silent_p.K866K|KCNT1_ENST00000490355.2_Silent_p.K864K|KCNT1_ENST00000487664.1_Silent_p.K840K B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 885 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TGGTGGACAAGGAGAGCACCA 0.652000 11 33 0 0 0.000673 0 0 SLC29A3 55315 broad.mit.edu 37 10 73082809 73082809 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:73082809C>T ENST00000373189.5 + 2 350 c.298C>T c.(298-300)Ctg>Ttg p.L100L NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 100 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 CTCAGACATCCTGGTAAGGGC 0.552000 18 20 0 0 0.007413 0 0 TPP1 1200 broad.mit.edu 37 11 6635861 6635861 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:6635861G>A ENST00000533371.1 - 12 1677 c.879C>T c.(877-879)ttC>ttT p.F293F TPP1_ENST00000299427.6_Silent_p.F536F O14773 TPP1_HUMAN tripeptidyl peptidase I 536 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) GACCAGAGCAGAAACCCTGGC 0.562000 16 25 0 0 0.004990 0 0 CACNA1I 8911 broad.mit.edu 37 22 40066866 40066866 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:40066866C>T ENST00000336649.4 + 29 4464 c.4464C>T c.(4462-4464)tcC>tcT p.S1488S CACNA1I_ENST00000404898.1_Silent_p.S1447S|CACNA1I_ENST00000402142.3_Silent_p.S1482S|CACNA1I_ENST00000401624.1_Silent_p.S1482S|CACNA1I_ENST00000400164.3_Silent_p.S1447S|CACNA1I_ENST00000407673.1_Silent_p.S1447S Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1482 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCATCCACTCCATGTGCACCA 0.587000 32 134 0 0 0.004878 0 0 CDH9 1007 broad.mit.edu 37 5 26915831 26915831 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:26915831C>T ENST00000231021.4 - 3 602 c.430G>A c.(430-432)Gaa>Aaa p.E144K NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 144 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 ATGATAAATTCCGATTCCGGT 0.398000 31 150 0 0 0.001786 0 0 UNC5B 219699 broad.mit.edu 37 10 73051439 73051439 + Silent SNP C C T rs150389249 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:73051439C>T ENST00000335350.6 + 10 1961 c.1545C>T c.(1543-1545)ttC>ttT p.F515F UNC5B_ENST00000373192.4_Silent_p.F504F NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 515 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CTAGCGATTTCGCCCGGGACA 0.682000 28 23 0 0 0.001786 0 0 DSP 1832 broad.mit.edu 37 6 7568118 7568118 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:7568118G>A ENST00000379802.3 + 10 1586 c.1245G>A c.(1243-1245)ctG>ctA p.L415L DSP_ENST00000418664.2_Silent_p.L415L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 415 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGCACCTGCTGGAACAGATCA 0.542000 7 49 0 0 0.003080 0 0 C10orf120 399814 broad.mit.edu 37 10 124458905 124458905 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:124458905G>A ENST00000329446.4 - 2 231 c.200C>T c.(199-201)tCa>tTa p.S67L NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 67 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) CCGTGGGTCTGATCTGTAGAA 0.502000 20 34 0 0 0.002780 0 0 KLHDC10 23008 broad.mit.edu 37 7 129760665 129760665 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:129760665C>T ENST00000335420.5 + 4 686 c.552C>T c.(550-552)gtC>gtT p.V184V NM_014997.3 NP_055812.1 Q6PID8 KLD10_HUMAN kelch domain containing 10 184 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 GCAATGACGTCCATGTGTGTA 0.483000 36 177 0 0 0.004878 0 0 EEPD1 80820 broad.mit.edu 37 7 36327374 36327374 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:36327374G>A ENST00000242108.4 + 6 2021 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K EEPD1_ENST00000534978.1_Missense_Mutation_p.E435K NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 435 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 GACCCTACAGGAAACCCTGAA 0.562000 21 115 0 0 0.001882 0 0 PCLO 27445 broad.mit.edu 37 7 82546144 82546144 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:82546144C>T ENST00000423517.2 - 7 11495 c.11158G>A c.(11158-11160)Gtt>Att p.V3720I PCLO_ENST00000437081.1_Missense_Mutation_p.V440I|PCLO_ENST00000333891.8_Missense_Mutation_p.V3720I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3651 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTTCTTTTAACTTTTTTCTGG 0.383000 161 10 0 0 0.003610 0 0 VAT1L 57687 broad.mit.edu 37 16 77910348 77910348 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:77910348C>T ENST00000302536.2 + 5 957 c.804C>T c.(802-804)ccC>ccT p.P268P VAT1L_ENST00000563850.1_3'UTR NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 268 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 TTCTCAAACCCCTGGGAACCT 0.473000 23 77 0 0 0.004656 0 0 C10orf71 118461 broad.mit.edu 37 10 50531805 50531805 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:50531805C>T ENST00000374144.3 + 3 1503 c.1215C>T c.(1213-1215)aaC>aaT p.N405N C10orf71_ENST00000323868.4_Silent_p.N405N Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 405 endometrium(1) 1 CACAGACCAACCAGAGAGGCC 0.458000 18 66 0 0 0.007413 0 0 CDK20 23552 broad.mit.edu 37 9 90586150 90586150 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:90586150C>T ENST00000375883.3 - 3 596 c.290G>A c.(289-291)aGg>aAg p.R97K CDK20_ENST00000325303.8_Missense_Mutation_p.R97K|CDK20_ENST00000336654.5_Missense_Mutation_p.R110K|CDK20_ENST00000605159.1_Missense_Mutation_p.R97K|CDK20_ENST00000375871.4_Missense_Mutation_p.R97K NM_001170639.1|NM_012119.4|NM_178432.3 NP_001164110.1|NP_036251.2|NP_848519.1 Q8IZL9 CDK20_HUMAN cyclin-dependent kinase 20 97 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 GGCTAGTGGCCTCTGGGCATG 0.582000 6 16 0 0 0.003080 0 0 GMPPA 29926 broad.mit.edu 37 2 220370413 220370413 + Missense_Mutation SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:220370413C>G ENST00000373917.3 + 9 1060 c.989C>G c.(988-990)cCc>cGc p.P330R GMPPA_ENST00000373908.1_Intron|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000358215.3_Intron|GMPPA_ENST00000313597.5_Intron|GMPPA_ENST00000341142.3_Intron Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 285 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) ATATTTGCCCCCAGGGCCTCT 0.592000 10 8 0 0 0.006214 0 0 CYP2D7 1564 broad.mit.edu 37 22 42536660 42536660 + RNA SNP G G A rs143457816 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:42536660G>A ENST00000435101.1 - 0 343 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 TCTTCCAGACGGCCTCATCCT 0.602000 6 9 0 0 0.001168 0 0 MAGI1 9223 broad.mit.edu 37 3 65346846 65346846 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:65346846G>A ENST00000483466.1 - 23 3990 c.3749C>T c.(3748-3750)tCc>tTc p.S1250F MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000330909.8_Intron|MAGI1_ENST00000497477.2_Missense_Mutation_p.S1154F NM_004742.2 NP_004733.2 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1250 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GCCAGGGAAGGAAGGAATGTT 0.483000 34 36 0 0 0.003271 0 0 SNHG14 104472715 broad.mit.edu 37 15 25351701 25351701 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:25351701G>A ENST00000546682.1 + 0 3911 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-29_ENST00000384516.1_RNA NR_003361.1 TGGAAACCTTGGAAATCTGAA 0.463000 22 17 0 0 0.002299 0 0 EPHA4 2043 broad.mit.edu 37 2 222428683 222428683 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:222428683G>A ENST00000281821.2 - 3 632 c.591C>T c.(589-591)gtC>gtT p.V197V EPHA4_ENST00000409938.1_Silent_p.V197V|EPHA4_ENST00000409854.1_Silent_p.V197V|EPHA4_ENST00000392071.4_Silent_p.V146V NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 197 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) AGAACACACGGACTGATACCA 0.527000 22 51 0 0 0.003330 0 0 MRGPRD 116512 broad.mit.edu 37 11 68748298 68748298 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:68748298C>T ENST00000309106.3 - 1 157 c.158G>A c.(157-159)gGc>gAc p.G53D NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 53 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CATTCGAAAGCCCAGCAGCCA 0.602000 14 29 0 0 0.002450 0 0 PRKCZ 5590 broad.mit.edu 37 1 2103820 2103820 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:2103820G>A ENST00000400921.2 + 10 1412 c.729G>A c.(727-729)gaG>gaA p.E243E PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.E243E NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 426 anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) TGCGGGGAGAGGAGTACGGTG 0.642000 4 4 0 0 0.000248 0 0 CPXM1 56265 broad.mit.edu 37 20 2778807 2778807 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:2778807G>A ENST00000380605.2 - 4 645 c.581C>T c.(580-582)tCt>tTt p.S194F NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 194 F5/8 type C. cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CCTCCAGACAGAGTTCCTGCC 0.622000 15 12 0 0 0.006122 0 0 STYK1 55359 broad.mit.edu 37 12 10782194 10782194 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:10782194C>T ENST00000075503.3 - 6 1051 c.531G>A c.(529-531)ctG>ctA p.L177L NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 177 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CCAGCTGCACCAGGTTTTTGT 0.527000 HNSCC(73;0.22) 8 38 0 0 0.006214 0 0 PLCB2 5330 broad.mit.edu 37 15 40589767 40589767 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:40589767C>T ENST00000260402.3 - 13 1527 c.1278G>A c.(1276-1278)acG>acA p.T426T PLCB2_ENST00000456256.2_Silent_p.T426T|PLCB2_ENST00000557821.1_Silent_p.T426T NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 426 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.T426T(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CCCCAAAGATCGTCCGGCAAT 0.597000 19 29 0 0 0.002780 0 0 AOAH 313 broad.mit.edu 37 7 36657921 36657921 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:36657921C>T ENST00000431169.1 - 10 1033 c.733G>A c.(733-735)Gag>Aag p.E245K AOAH_ENST00000535891.1_Missense_Mutation_p.E213K|AOAH_ENST00000258749.5_Missense_Mutation_p.E245K NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 245 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 AATTTCTTCTCATATGGAACT 0.338000 30 92 0 0 0.002445 0 0 PHLPP1 23239 broad.mit.edu 37 18 60646130 60646130 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:60646130C>T ENST00000400316.4 + 17 4865 c.3084C>T c.(3082-3084)ttC>ttT p.F1028F PHLPP1_ENST00000262719.5_Silent_p.F1540F NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1540 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 CTAGCGCCTTCTCCGACAACG 0.642000 3 8 0 0 0.000248 0 0 CPD 1362 broad.mit.edu 37 17 28712108 28712108 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:28712108C>T ENST00000225719.4 + 2 924 c.848C>T c.(847-849)tCa>tTa p.S283L CPD_ENST00000543464.2_Missense_Mutation_p.S36L NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 283 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 AGCAAAACCTCAGATGATGAA 0.418000 23 68 0 0 0.002299 0 0 SRL 6345 broad.mit.edu 37 16 4242450 4242450 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:4242450C>T ENST00000399609.3 - 6 1138 c.1126G>A c.(1126-1128)Gat>Aat p.D376N SRL_ENST00000537996.1_Missense_Mutation_p.D334N NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 835 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 TAGAATTTATCGGGATCTTCC 0.478000 19 50 0 0 0.006122 0 0 MARC2 54996 broad.mit.edu 37 1 220936284 220936284 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:220936284C>A ENST00000366913.3 + 4 840 c.642C>A c.(640-642)atC>atA p.I214I MARC2_ENST00000359316.2_Silent_p.I214I NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 214 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding CGCTCCTGATCATGACAGATG 0.488000 15 49 5.01169e-05 8.06908e-05 0.004990 1 0 ZNF598 90850 broad.mit.edu 37 16 2049689 2049689 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:2049689G>A ENST00000563630.1 - 9 1938 c.1696C>T c.(1696-1698)Cct>Tct p.P566S ZNF598_ENST00000431526.1_Missense_Mutation_p.P621S|ZNF598_ENST00000562103.1_Missense_Mutation_p.P566S Q86UK7 ZN598_HUMAN zinc finger protein 598 621 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CTGCTGGCAGGAGCTTCCGGG 0.677000 6 21 0 0 0.003080 0 0 C9orf172 389813 broad.mit.edu 37 9 139741099 139741099 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:139741099C>T ENST00000436881.1 + 1 2233 c.2233C>T c.(2233-2235)Ctg>Ttg p.L745L NM_001080482.2 NP_001073951.2 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 745 endometrium(2)|large_intestine(1)|lung(6) 9 TGTCGGCTTCCTGTCGCGCGG 0.701000 4 8 0 0 0.000248 0 0 RHOU 58480 broad.mit.edu 37 1 228879481 228879481 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:228879481C>T ENST00000366691.3 + 3 1437 c.771C>T c.(769-771)ttC>ttT p.F257F NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 257 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) ACTGCTGTTTCGTATGATGCT 0.408000 14 56 0 0 0.002450 0 0 SLC25A31 83447 broad.mit.edu 37 4 128651718 128651718 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:128651718G>A ENST00000281154.4 + 1 186 c.18G>A c.(16-18)gcG>gcA p.A6A NM_031291.2 NP_112581.1 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 6 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 GTGAGCCTGCGAAAAAGAAGG 0.552000 18 65 0 0 0.007413 0 0 TTC8 123016 broad.mit.edu 37 14 89338717 89338717 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:89338717C>T ENST00000338104.6 + 13 1368 c.1316C>T c.(1315-1317)gCt>gTt p.A439V TTC8_ENST00000346301.4_Missense_Mutation_p.A383V|TTC8_ENST00000358622.5_Missense_Mutation_p.A225V|TTC8_ENST00000536576.1_Missense_Mutation_p.A184V|TTC8_ENST00000345383.5_Missense_Mutation_p.A413V|TTC8_ENST00000354441.6_Missense_Mutation_p.A158V|TTC8_ENST00000380656.2_Missense_Mutation_p.A423V Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 449 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TTCAGGCTGGCTCTGGTCAAC 0.532000 25 33 0 0 0.003330 0 0 SYT10 341359 broad.mit.edu 37 12 33535403 33535403 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:33535403C>T ENST00000228567.3 - 5 1547 c.1251G>A c.(1249-1251)agG>agA p.R417R SYT10_ENST00000535526.1_Silent_p.R236R NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 417 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TAGTTGTTTTCCTCTTTTTTA 0.368000 21 53 0 0 0.005443 0 0 CDSN 1041 broad.mit.edu 37 6 31083860 31083860 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:31083860G>A ENST00000376288.2 - 2 1558 c.1532C>T c.(1531-1533)cCc>cTc p.P511L PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 511 cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 AGCTAGCTGGGGCCCCAGAGG 0.562000 20 84 0 0 0.002780 0 0 DRC1 92749 broad.mit.edu 37 2 26676345 26676345 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:26676345C>T ENST00000288710.2 + 14 1921 c.1847C>T c.(1846-1848)tCc>tTc p.S616F NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) ACCCCACCCTCCCCCTGGGTC 0.582000 28 16 0 0 0.005443 0 0 HYDIN 54768 broad.mit.edu 37 16 71101260 71101260 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:71101260C>T ENST00000393567.2 - 15 2158 c.2008G>A c.(2008-2010)Gag>Aag p.E670K HYDIN_ENST00000448691.1_Missense_Mutation_p.E670K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E670K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E685K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E670K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E687K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E687K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E697K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 670 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGTGCCAGCTCGTATTTCTGC 0.527000 34 22 0 0 0.005524 0 0 NUP205 23165 broad.mit.edu 37 7 135300760 135300760 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:135300760C>T ENST00000285968.6 + 24 3433 c.3407C>T c.(3406-3408)aCc>aTc p.T1136I NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1136 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CGGTCACATACCCAGAGGCTC 0.428000 15 105 0 0 0.006122 0 0 SEMA5A 9037 broad.mit.edu 37 5 9154728 9154728 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:9154728G>A ENST00000382496.5 - 12 2018 c.1353C>T c.(1351-1353)ttC>ttT p.F451F NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 451 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GCCTCTCAGGGAAGAGCTCAA 0.557000 43 57 0 0 0.003610 0 0 LALBA 3906 broad.mit.edu 37 12 48963762 48963762 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:48963762G>A ENST00000549817.1 - 1 87 c.42C>T c.(40-42)ttC>ttT p.F14F LALBA_ENST00000301046.2_Silent_p.F14F P00709 LALBA_HUMAN lactalbumin, alpha- 14 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 GGATGGCAGGGAACAGGATGC 0.468000 147 36 0 0 0.003610 0 0 RASAL3 64926 broad.mit.edu 37 19 15564295 15564295 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:15564295C>T ENST00000343625.6 - 15 2373 c.2293G>A c.(2293-2295)Gag>Aag p.E765K NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 765 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 CCGGGCTTCTCCCCTGCGGAG 0.662000 3 8 0 0 0.004672 0 0 TULP3 7289 broad.mit.edu 37 12 3040401 3040401 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:3040401C>T ENST00000448120.2 + 6 742 c.691C>T c.(691-693)Cag>Tag p.Q231* TULP3_ENST00000397132.2_Nonsense_Mutation_p.Q231* NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 231 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) AGAAGAAAATCAGAAGGTATG 0.403000 12 2 0 0 0.001368 0 0 SH3GL3 6457 broad.mit.edu 37 15 84245385 84245385 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:84245385G>A ENST00000324537.5 + 9 1032 c.540G>A c.(538-540)aaG>aaA p.K180K SH3GL3_ENST00000434347.1_Silent_p.K180K|SH3GL3_ENST00000427482.2_Silent_p.K172K|SH3GL3_ENST00000535412.1_Silent_p.K172K Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 172 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 ATTATAAAAAGAAACGAGTAG 0.413000 30 32 0 0 0.002445 0 0 FRMPD4 9758 broad.mit.edu 37 X 12735780 12735780 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:12735780C>T ENST00000380682.1 + 16 3341 c.2835C>T c.(2833-2835)ccC>ccT p.P945P NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 945 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GCTACCACCCCCTTGCAGAAG 0.587000 34 67 0 0 0.005524 0 0 MYO1A 4640 broad.mit.edu 37 12 57423625 57423625 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57423625C>T ENST00000442789.2 - 26 2910 c.2623G>A c.(2623-2625)Ggg>Agg p.G875R MYO1A_ENST00000544473.1_Missense_Mutation_p.G713R|MYO1A_ENST00000300119.3_Missense_Mutation_p.G875R NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 875 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 CCTTGCAGCCCAATGTAGTCA 0.592000 157 57 0 0 0.003610 0 0 ACAP3 116983 broad.mit.edu 37 1 1231242 1231242 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:1231242G>A ENST00000354700.5 - 18 1781 c.1579C>T c.(1579-1581)Ctg>Ttg p.L527L ACAP3_ENST00000353662.3_Silent_p.L485L NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 527 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 GGGGCCTCCAGGGCTGGTGCC 0.652000 13 9 0 0 0.001855 0 0 DDX41 51428 broad.mit.edu 37 5 176939113 176939113 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176939113G>A ENST00000507955.1 - 16 2239 c.1716C>T c.(1714-1716)tcC>tcT p.S572S NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 572 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TGTCCAGCATGGACTCATCCC 0.617000 48 23 0 0 0.003610 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552028 178552028 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:178552028C>T ENST00000251582.7 - 19 3005 c.2904G>A c.(2902-2904)cgG>cgA p.R968R NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 968 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GGCTGCAGGCCCGGCGGCTCT 0.687000 13 63 0 0 0.003163 0 0 HS3ST5 222537 broad.mit.edu 37 6 114379098 114379098 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:114379098C>T ENST00000312719.5 - 5 1552 c.364G>A c.(364-366)Gaa>Aaa p.E122K HS3ST5_ENST00000411826.1_Missense_Mutation_p.E122K|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 122 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) AAGTGGATTTCTTGAGAGGCT 0.443000 39 17 0 0 0.007835 0 0 DNAH5 1767 broad.mit.edu 37 5 13829760 13829760 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:13829760G>A ENST00000265104.4 - 38 6407 c.6303C>T c.(6301-6303)ttC>ttT p.F2101F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2101 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCACTGAGCGGAAATTAATCT 0.453000 Kartagener syndrome 30 42 0 0 0.002836 0 0 COL5A1 1289 broad.mit.edu 37 9 137707430 137707430 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:137707430G>A ENST00000371817.3 + 51 4437 c.4023G>A c.(4021-4023)gtG>gtA p.V1341V NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1341 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGGGCCCAGTGGGTTTTCCTG 0.617000 5 10 0 0 0.001168 0 0 LMTK2 22853 broad.mit.edu 37 7 97832933 97832933 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:97832933C>T ENST00000297293.5 + 12 4448 c.4155C>T c.(4153-4155)ggC>ggT p.G1385G NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1385 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) AGGCGTGCGGCCCGGACCTGA 0.602000 10 25 0 0 0.000978 0 0 CLEC4E 26253 broad.mit.edu 37 12 8687365 8687365 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:8687365C>T ENST00000299663.3 - 6 694 c.529G>A c.(529-531)Gag>Aag p.E177K CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Missense_Mutation_p.E132K NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 177 C-type lectin. integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) GCACAGTCCTCCAGGGTAGCT 0.413000 45 20 0 0 0.003610 0 0 PAK7 57144 broad.mit.edu 37 20 9560902 9560902 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:9560902C>T ENST00000378429.3 - 5 1426 c.880G>A c.(880-882)Gaa>Aaa p.E294K PAK7_ENST00000353224.5_Missense_Mutation_p.E294K|PAK7_ENST00000378423.1_Missense_Mutation_p.E294K NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 294 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) ATCATCGGTTCCTGGAGTCCC 0.552000 45 20 0 0 0.003610 0 0 PTCH2 8643 broad.mit.edu 37 1 45295074 45295074 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:45295074C>T ENST00000447098.2 - 9 1226 c.1215_splice c.e9+1 p.M405_splice PTCH2_ENST00000372192.3_Splice_Site_p.M405_splice NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 405 SSD. protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CAAGACCCACCATGAGCAGAT 0.632000 Basal Cell Nevus syndrome 13 33 0 0 0.001855 0 0 PASK 23178 broad.mit.edu 37 2 242062230 242062230 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:242062230G>A ENST00000403638.3 - 12 3080 c.2989C>T c.(2989-2991)Caa>Taa p.Q997* PASK_ENST00000544142.1_Nonsense_Mutation_p.Q811*|PASK_ENST00000405260.1_Nonsense_Mutation_p.Q997*|PASK_ENST00000358649.4_Nonsense_Mutation_p.Q997*|PASK_ENST00000234040.4_Nonsense_Mutation_p.Q997*|PASK_ENST00000539818.1_Nonsense_Mutation_p.Q781* NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 997 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CTGTACTTTTGGGAGTACTCG 0.592000 21 30 0 0 0.003330 0 0 PASD1 139135 broad.mit.edu 37 X 150828184 150828184 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:150828184G>A ENST00000370357.4 + 10 962 c.e10-1 NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GAAATGTACAGGACCAAATTG 0.368000 18 26 0 0 0.001216 0 0 KBTBD7 84078 broad.mit.edu 37 13 41767908 41767908 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:41767908G>A ENST00000379483.3 - 1 794 c.486C>T c.(484-486)tcC>tcT p.S162S NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 162 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GGGCTAAGAAGGAGGCACAGG 0.582000 21 30 0 0 0.003330 0 0 WNK2 65268 broad.mit.edu 37 9 96002179 96002179 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:96002179G>A ENST00000297954.4 + 6 1463 c.1463G>A c.(1462-1464)gGa>gAa p.G488E WNK2_ENST00000349097.3_Missense_Mutation_p.G100E|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.G100E|WNK2_ENST00000395477.2_Missense_Mutation_p.G488E|WNK2_ENST00000395475.2_Missense_Mutation_p.G474E Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 488 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 AAACTGAAGGGAAAGCCCAAG 0.602000 9 4 0 0 0.000673 0 0 PPAP2B 8613 broad.mit.edu 37 1 56962285 56962285 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:56962285G>A ENST00000371250.3 - 6 1425 c.874C>T c.(874-876)Cgg>Tgg p.R292W PPAP2B_ENST00000459962.1_5'UTR NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 292 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 ATTTCCTTCCGGATAGCAGGG 0.468000 28 32 0 0 0.006320 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766245 27766245 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:27766245C>T ENST00000451261.2 + 5 1632 c.1233C>T c.(1231-1233)ttC>ttT p.F411F NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TCAAGAAATTCACTCCTCATC 0.428000 14 19 0 0 0.002450 0 0 NELL1 4745 broad.mit.edu 37 11 20948935 20948935 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:20948935C>T ENST00000298925.5 + 9 1078 c.925C>T c.(925-927)Cga>Tga p.R309* NELL1_ENST00000357134.5_Nonsense_Mutation_p.R281*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.R281*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.R224* Q92832 NELL1_HUMAN NEL-like 1 (chicken) 281 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 ACTGCTCTATCGAGATCAAGA 0.398000 24 4 0 0 0.006320 0 0 SLC51A 200931 broad.mit.edu 37 3 195944803 195944803 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:195944803G>A ENST00000296327.5 + 2 338 c.129G>A c.(127-129)ctG>ctA p.L43L NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit CCCAACTCCTGAGAGGTGAGT 0.617000 4 14 0 0 0.000248 0 0 GALM 130589 broad.mit.edu 37 2 38903126 38903126 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:38903126T>A ENST00000272252.5 + 2 515 c.263T>A c.(262-264)tTc>tAc p.F88Y GALM_ENST00000410063.1_Intron NM_138801.2 NP_620156.1 Q96C23 GALM_HUMAN galactose mutarotase (aldose 1-epimerase) 88 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(82;0.248) AAAGGAACCTTCAAGGTGGAT 0.498000 19 71 0 0 0.001523 0 0 CXCR2P1 3580 broad.mit.edu 37 2 218925031 218925031 + RNA SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:218925031A>C ENST00000439871.1 - 0 1349 NR_002712.1 GAAGGGAGGAACCCCACGGGA 0.552000 17 33 0 0 0.007413 0 0 ACSM1 116285 broad.mit.edu 37 16 20696537 20696537 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:20696537C>T ENST00000307493.4 - 2 448 c.381G>A c.(379-381)gtG>gtA p.V127V ACSM1_ENST00000520010.1_Silent_p.V127V|ACSM1_ENST00000219151.4_5'UTR NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 127 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 AGCCCACAGCCACCAGCCACC 0.577000 10 47 0 0 0.000673 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230469 140230469 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140230469G>A ENST00000378122.3 + 1 3113 c.2389G>A c.(2389-2391)Ggg>Agg p.G797R PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G797R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATTCAACTGGGAAGGTGGG 0.423000 48 26 0 0 0.003610 0 0 CCDC105 126402 broad.mit.edu 37 19 15131400 15131400 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:15131400C>T ENST00000292574.3 + 3 885 c.803C>T c.(802-804)tCc>tTc p.S268F NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 268 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 GTGAACCTCTCCCGAGCCCCC 0.592000 20 12 0 0 0.001523 0 0 MPP4 58538 broad.mit.edu 37 2 202545639 202545639 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:202545639G>A ENST00000409474.3 - 10 1058 c.851C>T c.(850-852)gCc>gTc p.A284V MPP4_ENST00000409143.1_Missense_Mutation_p.A257V|MPP4_ENST00000396886.3_Missense_Mutation_p.A240V|MPP4_ENST00000447335.2_Missense_Mutation_p.A284V|MPP4_ENST00000315506.7_Missense_Mutation_p.A271V|MPP4_ENST00000359962.5_Missense_Mutation_p.A284V|MPP4_ENST00000428900.2_Missense_Mutation_p.A284V NM_033066.2 NP_149055.1 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) 284 SH3. cytoplasm protein binding kidney(1)|lung(11) 12 CCACCAGAGGGCATCATTCTG 0.572000 OREG0015145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 9 0 0 0.001168 0 0 GK 2710 broad.mit.edu 37 X 30736685 30736685 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:30736685C>T ENST00000378943.3 + 13 1167 c.988C>T c.(988-990)Cgc>Tgc p.R330C GK_ENST00000378945.3_Missense_Mutation_p.R330C|GK_ENST00000378946.3_Missense_Mutation_p.R336C|GK_ENST00000427190.1_Missense_Mutation_p.R131C|GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase 336 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1)|large_intestine(3) 4 TGCTGTTATTCGCTGGCTAAG 0.333000 4 11 0 0 0.001984 0 0 USP8 9101 broad.mit.edu 37 15 50782062 50782062 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:50782062C>T ENST00000433963.1 + 14 2455 c.1955C>T c.(1954-1956)cCt>cTt p.P652L USP8_ENST00000396444.3_Missense_Mutation_p.P652L|USP8_ENST00000307179.4_Missense_Mutation_p.P652L|USP8_ENST00000425032.3_Missense_Mutation_p.P546L NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 652 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CCAGGACTGCCTTCAGGCTGG 0.343000 18 53 0 0 0.005443 0 0 GRIK2 2898 broad.mit.edu 37 6 102074294 102074294 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:102074294G>A ENST00000369138.1 + 3 813 c.323G>A c.(322-324)gGg>gAg p.G108E GRIK2_ENST00000369134.4_Missense_Mutation_p.G59E|GRIK2_ENST00000318991.6_Missense_Mutation_p.G108E|GRIK2_ENST00000358361.3_Missense_Mutation_p.G108E|GRIK2_ENST00000421544.1_Missense_Mutation_p.G108E|GRIK2_ENST00000413795.1_Missense_Mutation_p.G108E|GRIK2_ENST00000369137.3_Missense_Mutation_p.G108E NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 108 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GCCATCTTCGGGCCTTCACAC 0.537000 113 36 0 0 0.003610 0 0 RCC1 1104 broad.mit.edu 37 1 28861846 28861846 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:28861846C>T ENST00000373833.6 + 9 900 c.615C>T c.(613-615)ggC>ggT p.G205G RCC1_ENST00000373831.3_Silent_p.G236G|RCC1_ENST00000373832.1_Silent_p.G205G|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000398958.2_Silent_p.G205G P18754 RCC1_HUMAN regulator of chromosome condensation 1 205 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GCCAGCTAGGCCGTGTGCCTG 0.587000 16 24 0 0 0.006122 0 0 ATAD3B 83858 broad.mit.edu 37 1 1430980 1430980 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:1430980C>T ENST00000308647.7 + 16 1846 c.1730C>T c.(1729-1731)cCt>cTt p.P577L NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 577 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCGGAGGGGCCTGGGCGCGGG 0.672000 25 10 0 0 0.003330 0 0 GJA10 84694 broad.mit.edu 37 6 90604271 90604271 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:90604271C>T ENST00000369352.1 + 1 84 c.84C>T c.(82-84)atC>atT p.I28I NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 28 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GGCTGACCATCCTCTTCATCT 0.512000 32 14 0 0 0.002445 0 0 RABL6 55684 broad.mit.edu 37 9 139733691 139733691 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:139733691C>T ENST00000371675.3 + 12 2051 c.1166C>T c.(1165-1167)tCg>tTg p.S389L RABL6_ENST00000371663.4_Missense_Mutation_p.S505L|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_Missense_Mutation_p.S504L|RABL6_ENST00000432842.2_Intron RAB, member RAS oncogene family-like 6 ATACCAGCTTCGAAGCCACGG 0.672000 6 4 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9070500 9070500 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9070500G>A ENST00000397910.4 - 3 17149 c.16946C>T c.(16945-16947)tCa>tTa p.S5649L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5651 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTCTCTGGTGATGTGGAGGA 0.522000 7 22 0 0 0.003080 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59983018 59983018 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:59983018G>A ENST00000265036.5 - 2 152 c.85C>T c.(85-87)Ccg>Tcg p.P29S DEPDC1B_ENST00000545085.1_Missense_Mutation_p.P2S|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.P29S NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 29 DEP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) TTCCGTAACGGCATCTTAGCA 0.443000 18 100 0 0 0.001882 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579502 44579502 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:44579502G>A ENST00000289547.4 - 2 549 c.494C>T c.(493-495)gCc>gTc p.A165V NPC1L1_ENST00000381160.3_Missense_Mutation_p.A165V|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A165V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A165V NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 165 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GCTCTGCTCGGCAAAGCTATG 0.602000 48 24 0 0 0.003610 0 0 PIGC 5279 broad.mit.edu 37 1 172411146 172411146 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:172411146G>A ENST00000367728.1 - 1 2080 c.617C>T c.(616-618)gCc>gTc p.A206V PIGC_ENST00000258324.1_Missense_Mutation_p.A206V|PIGC_ENST00000344529.4_Missense_Mutation_p.A206V|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron Q92535 PIGC_HUMAN phosphatidylinositol glycan anchor biosynthesis, class C 206 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 AATCTGAATGGCAAATGTCAC 0.498000 14 78 0 0 0.004007 0 0 MCU 90550 broad.mit.edu 37 10 74620224 74620224 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:74620224C>T ENST00000536019.1 + 4 733 c.288C>T c.(286-288)ctC>ctT p.L96L MCU_ENST00000357157.6_Silent_p.L145L|MCU_ENST00000373053.3_Silent_p.L145L NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 145 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 ACCTCCTCCTCCTTGATGACT 0.398000 23 67 0 0 0.004656 0 0 KIF3B 9371 broad.mit.edu 37 20 30919041 30919041 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:30919041G>A ENST00000375712.3 + 9 2330 c.2163G>A c.(2161-2163)agG>agA p.R721R KIF3B_ENST00000418717.2_Silent_p.R347R NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 721 Globular. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AAAGTGGAAGGAAGTCGGGAT 0.483000 53 80 0 0 0.003610 0 0 FHDC1 85462 broad.mit.edu 37 4 153897073 153897073 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:153897073C>T ENST00000511601.1 + 12 2818 c.2630C>T c.(2629-2631)cCc>cTc p.P877L FHDC1_ENST00000260008.3_Missense_Mutation_p.P877L Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 877 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GCCTCCAAGCCCGGGAGCGCC 0.642000 31 53 0 0 0.001512 0 0 ADD2 119 broad.mit.edu 37 2 70931543 70931543 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:70931543C>T ENST00000264436.3 - 4 676 c.232G>A c.(232-234)Ggg>Agg p.G78R ADD2_ENST00000430656.1_Missense_Mutation_p.G94R|ADD2_ENST00000413157.2_Missense_Mutation_p.G78R|ADD2_ENST00000407644.2_Missense_Mutation_p.G78R|ADD2_ENST00000355733.3_Missense_Mutation_p.G78R NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 78 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GAGTTGTTCCCCTTCTTCATC 0.597000 21 36 0 0 0.002299 0 0 CELSR2 1952 broad.mit.edu 37 1 109794877 109794877 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:109794877C>T ENST00000271332.3 + 1 2237 c.2176C>T c.(2176-2178)Ccg>Tcg p.P726S NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 726 Cadherin 6. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TGAGGACCGGCCGGCAGGCAC 0.577000 82 175 0 0 0.003610 0 0 CRTAM 56253 broad.mit.edu 37 11 122738726 122738726 + Missense_Mutation SNP G G A rs148256561 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:122738726G>A ENST00000227348.4 + 9 1017 c.970G>A c.(970-972)Gaa>Aaa p.E324K CRTAM_ENST00000533709.1_Missense_Mutation_p.E125K NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 324 cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding p.E324K(1) breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TGTAGAAAACGAAGTTTCAGA 0.323000 14 11 0 0 0.004990 0 0 KIAA1919 91749 broad.mit.edu 37 6 111587465 111587465 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:111587465C>T ENST00000368847.4 + 4 1053 c.700C>T c.(700-702)Ctt>Ttt p.L234F NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 234 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) TCTTTGTCTCCTTTTTCTGTT 0.378000 31 7 0 0 0.002445 0 0 GOLGB1 2804 broad.mit.edu 37 3 121437283 121437283 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:121437283G>A ENST00000393667.3 - 8 947 c.837C>T c.(835-837)gtC>gtT p.V279V GOLGB1_ENST00000340645.5_Silent_p.V274V NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 274 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GCAAGTCAACGACCTGAGCAC 0.458000 37 53 0 0 0.003214 0 0 VWA7 80737 broad.mit.edu 37 6 31744007 31744007 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:31744007G>A ENST00000375686.3 - 3 484 c.247C>T c.(247-249)Ctt>Ttt p.L83F VWA7_ENST00000447450.1_Missense_Mutation_p.L83F|VWA7_ENST00000375688.4_Missense_Mutation_p.L83F|VWA7_ENST00000467576.1_5'UTR NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 83 extracellular region TCATCAGCAAGGAGTGTTCGA 0.582000 247 171 0 0 0.003610 0 0 TNR 7143 broad.mit.edu 37 1 175324761 175324761 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:175324761G>A ENST00000367674.1 - 17 3835 c.3127C>T c.(3127-3129)Cct>Tct p.P1043S TNR_ENST00000263525.2_Missense_Mutation_p.P1043S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1043 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TTTGCCGGAGGGTCCAGGACT 0.542000 20 59 0 0 0.001523 0 0 FAM47C 442444 broad.mit.edu 37 X 37026576 37026576 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:37026576G>A ENST00000358047.3 + 1 145 c.93G>A c.(91-93)gcG>gcA p.A31A NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 31 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGTACTTCGCGAAGCGCAAGC 0.642000 5 16 0 0 0.000602 0 0 FAT4 79633 broad.mit.edu 37 4 126389779 126389779 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:126389779G>A ENST00000394329.3 + 11 12025 c.12012G>A c.(12010-12012)acG>acA p.T4004T FAT4_ENST00000335110.5_Silent_p.T2267T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4004 Laminin G-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T4004T(1)|p.T3969T(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AATTTGCCACGATTAAAAGTC 0.398000 9 23 0 0 0.004482 0 0 CDHR2 54825 broad.mit.edu 37 5 176011703 176011703 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176011703C>T ENST00000510636.1 + 19 2695 c.2421C>T c.(2419-2421)acC>acT p.T807T CDHR2_ENST00000506348.1_Silent_p.T807T|CDHR2_ENST00000261944.5_Silent_p.T807T NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 807 Cadherin 7. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 ATCCCCCCACCCTGGATGTAG 0.597000 20 117 0 0 0.001523 0 0 MUC3A 4584 broad.mit.edu 37 7 100549542 100549542 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100549542C>T ENST00000379458.4 + 2 123 c.123C>T c.(121-123)agC>agT p.41_41insS MUC3A_ENST00000483366.1_3'UTR mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 AAGCAGCCAGCGCTGTGCTCA 0.582000 20 177 0 0 0.001523 0 0 PSG5 5673 broad.mit.edu 37 19 43680064 43680064 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:43680064C>A ENST00000404580.1 - 3 755 c.667G>T c.(667-669)Gat>Tat p.D223Y PSG5_ENST00000407356.1_Missense_Mutation_p.D223Y|PSG5_ENST00000599812.1_Missense_Mutation_p.D316Y|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Missense_Mutation_p.D223Y|PSG5_ENST00000342951.6_Missense_Mutation_p.D223Y Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 223 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) ATGCCACCATCTCGGTCCCGT 0.493000 74 71 2.01383e-38 3.29087e-38 0.003610 1 0 FBXO24 26261 broad.mit.edu 37 7 100193253 100193253 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100193253G>A ENST00000241071.6 + 8 1452 c.1130G>A c.(1129-1131)cGa>cAa p.R377Q PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000468962.1_Missense_Mutation_p.R365Q|FBXO24_ENST00000427939.2_Missense_Mutation_p.R415Q NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 377 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GAATTTGGCCGAATCTTCATG 0.502000 116 11 0 0 0.003610 0 0 NFIX 4784 broad.mit.edu 37 19 13201181 13201181 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:13201181C>T ENST00000358552.3 + 8 1345 c.1345C>T c.(1345-1347)Ctg>Ttg p.L449L NFIX_ENST00000397661.2_Silent_p.F441F|NFIX_ENST00000585575.1_Silent_p.L483L|NFIX_ENST00000360105.4_Silent_p.F403F|NFIX_ENST00000587760.1_Silent_p.F433F|NFIX_ENST00000587260.1_Silent_p.F440F|NFIX_ENST00000592199.1_Silent_p.L491L|NFIX_ENST00000588228.1_Silent_p.L444L Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 491 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) CGGCAACTTTCTGAACATCCC 0.622000 23 85 0 0 0.001512 0 0 ADAM21 8747 broad.mit.edu 37 14 70924528 70924528 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:70924528C>T ENST00000603540.1 + 2 570 c.312C>T c.(310-312)ttC>ttT p.F104F ADAM21_ENST00000267499.3_Silent_p.F104F|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 104 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) ATCAGCTCTTCATCCCAGATG 0.478000 5 32 0 0 0.001168 0 0 PLD5 200150 broad.mit.edu 37 1 242383300 242383300 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:242383300G>A ENST00000442594.2 - 6 958 c.449C>T c.(448-450)tCc>tTc p.S150F PLD5_ENST00000536534.1_Missense_Mutation_p.S242F|PLD5_ENST00000427495.1_Missense_Mutation_p.S180F NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 242 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CTGTCCCAGGGATTGCCAGTC 0.498000 18 27 0 0 0.006122 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27100920 27100920 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:27100920C>T ENST00000359193.2 + 1 89 c.70C>T c.(70-72)Ctc>Ttc p.L24F NM_021064.4 NP_066408.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 24 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 TAGGGCCGGTCTCCAGTTCCC 0.657000 16 61 0 0 0.006122 0 0 IFT52 51098 broad.mit.edu 37 20 42265791 42265791 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:42265791C>T ENST00000373030.3 + 12 1148 c.1018C>T c.(1018-1020)Cct>Tct p.P340S IFT52_ENST00000373039.4_Missense_Mutation_p.P340S NM_016004.2 NP_057088.2 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog (Chlamydomonas) 340 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TTAGGTTTTTCCTCCCAGTTT 0.398000 50 49 0 0 0.003610 0 0 NF1 4763 broad.mit.edu 37 17 29556419 29556419 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:29556419T>C ENST00000358273.4 + 21 3169 c.2786T>C c.(2785-2787)cTg>cCg p.L929P NF1_ENST00000356175.3_Missense_Mutation_p.L929P NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 929 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGTCCTGCTCTGTATCCAATG 0.398000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 57 41 0 0 0.003610 0 0 PHF19 26147 broad.mit.edu 37 9 123620471 123620471 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:123620471G>A ENST00000373896.3 - 15 1746 c.1494C>T c.(1492-1494)tgC>tgT p.C498C PHF19_ENST00000419155.1_Silent_p.C289C|PHF19_ENST00000487555.1_5'UTR NM_015651.1 NP_056466.1 Q5T6S3 PHF19_HUMAN PHD finger protein 19 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGTCCGAGGGGCAGCGTCCAT 0.607000 14 29 0 0 0.001855 0 0 DNAH5 1767 broad.mit.edu 37 5 13865925 13865925 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:13865925G>A ENST00000265104.4 - 27 4311 c.4207C>T c.(4207-4209)Ctt>Ttt p.L1403F CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1403 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTTATTTCAAGAAGCTGAGGA 0.328000 Kartagener syndrome 42 21 0 0 0.003214 0 0 ZNF235 9310 broad.mit.edu 37 19 44793050 44793050 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:44793050G>A ENST00000291182.4 - 5 640 c.538C>T c.(538-540)Ccg>Tcg p.P180S ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) CAAGAATTCGGAACTTTCCCA 0.348000 10 55 0 0 0.006214 0 0 KCNA6 3742 broad.mit.edu 37 12 4920712 4920712 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:4920712C>T ENST00000433855.1 + 1 2371 c.1505C>T c.(1504-1506)cCc>cTc p.P502L KCNA6_ENST00000280684.3_Missense_Mutation_p.P502L NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 502 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CCTGACTTCCCCGAGGCTAAC 0.607000 HNSCC(72;0.22) 28 15 0 0 0.001512 0 0 DIP2C 22982 broad.mit.edu 37 10 465054 465054 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:465054G>A ENST00000280886.6 - 6 777 c.690C>T c.(688-690)tcC>tcT p.S230S DIP2C_ENST00000381496.3_Silent_p.S123S NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 230 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCGCTGTCCGGGACCCCGTGG 0.542000 14 13 0 0 0.003163 0 0 DLGAP4 22839 broad.mit.edu 37 20 35125333 35125333 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:35125333G>A ENST00000373913.3 + 8 2354 c.1874G>A c.(1873-1875)gGa>gAa p.G625E DLGAP4_ENST00000373907.2_Missense_Mutation_p.G625E|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G625E|DLGAP4_ENST00000340491.4_Missense_Mutation_p.G86E|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G625E|DLGAP4_ENST00000475894.1_3'UTR Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 625 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) ACACGGGGTGGAGTCGCCCCA 0.652000 15 43 0 0 0.002450 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580830 140580830 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140580830G>A ENST00000354757.3 + 1 1483 c.1483G>A c.(1483-1485)Gac>Aac p.D495N PCDHB11_ENST00000536699.1_Missense_Mutation_p.D130N NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 495 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCGCCCCAGGACCTGCACCT 0.637000 75 115 0 0 0.003610 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527671 65527671 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:65527671G>A ENST00000310193.3 - 4 1142 c.969C>T c.(967-969)gaC>gaT p.D323D CYP7B1_ENST00000523954.1_5'UTR NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 323 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GCAGCAAACGGTCAATTTCGT 0.468000 19 29 0 0 0.001523 0 0 OR14A16 284532 broad.mit.edu 37 1 247978180 247978180 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:247978180G>A ENST00000357627.1 - 1 851 c.852C>T c.(850-852)ccC>ccT p.P284P NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P284P(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TGTATATAATGGGATTAAAGG 0.408000 8 27 0 0 0.006214 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51768752 51768752 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:51768752G>A ENST00000316401.7 + 3 534 c.153G>A c.(151-153)atG>atA p.M51I SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA NM_173635.1 NP_775906.1 SIGLEC family like 1 TGGATGGCATGGATGGCAGCC 0.572000 15 33 0 0 0.002450 0 0 C18orf25 147339 broad.mit.edu 37 18 43820095 43820095 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:43820095G>A ENST00000282059.6 + 3 1214 c.840G>A c.(838-840)caG>caA p.Q280Q C18orf25_ENST00000321319.6_Intron NM_145055.3 NP_659492.1 Q96B23 CR025_HUMAN chromosome 18 open reading frame 25 280 central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 11 TAGGCGGCCAGGACACAGGAG 0.512000 17 50 0 0 0.007413 0 0 ISX 91464 broad.mit.edu 37 22 35480387 35480387 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:35480387G>A ENST00000308700.6 + 3 1345 c.393G>A c.(391-393)caG>caA p.Q131Q ISX_ENST00000404699.2_Silent_p.Q131Q NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 131 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 TCTGGTTCCAGAATCAGCGAG 0.512000 16 50 0 0 0.004990 0 0 VENTX 27287 broad.mit.edu 37 10 135053636 135053636 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:135053636C>T ENST00000325980.9 + 3 1114 c.603C>T c.(601-603)tcC>tcT p.S201S NM_014468.2 NP_055283.1 O95231 VENTX_HUMAN VENT homeobox 201 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) CCCCTGGCTCCTTCTGGGGTC 0.677000 8 14 0 0 0.003080 0 0 DGKK 139189 broad.mit.edu 37 X 50114815 50114815 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:50114815C>T ENST00000376025.2 - 0 3578 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AGTGCAGTCTCATCCTCAGCA 0.468000 11 1 0 0 0.001368 0 0 NME8 51314 broad.mit.edu 37 7 37927900 37927900 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:37927900G>A ENST00000199447.4 + 15 1641 c.1269G>A c.(1267-1269)atG>atA p.M423I NME8_ENST00000440017.1_Missense_Mutation_p.M423I|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 423 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity AGTTTGCGATGGACAGTTTGC 0.363000 30 78 0 0 0.005524 0 0 TCF21 6943 broad.mit.edu 37 6 134210675 134210675 + Missense_Mutation SNP G G A rs144842546 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:134210675G>A ENST00000367882.4 + 1 400 c.140G>A c.(139-141)gGg>gAg p.G47E RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.G47E NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 47 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) TGCGAGAATGGGTCTCCCCAG 0.602000 11 8 0 0 0.000978 0 0 SPCS2 9789 broad.mit.edu 37 11 74676882 74676882 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:74676882C>T ENST00000263672.6 + 3 312 c.273C>T c.(271-273)tcC>tcT p.S91S SPCS2_ENST00000530257.1_Intron|SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000526361.1_Intron NM_014752.2 NP_055567.2 Q15005 SPCS2_HUMAN signal peptidase complex subunit 2 homolog (S. cerevisiae) 91 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity breast(1) 1 GTACAATCTCCTGTTTCTTTG 0.393000 36 94 0 0 0.006999 0 0 ACOT1 641371 broad.mit.edu 37 14 74008211 74008211 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:74008211C>T ENST00000311148.4 + 2 780 c.472C>T c.(472-474)Cct>Tct p.P158S ACOT1_ENST00000557556.1_Missense_Mutation_p.P158S|HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000334988.2_Intron NM_001037161.1 NP_001032238.1 acyl-CoA thioesterase 1 endometrium(1)|large_intestine(1)|lung(2) 4 OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033) TGGGCCCTTTCCTGGCATTGT 0.468000 53 23 0 0 0.003610 0 0 KIF4B 285643 broad.mit.edu 37 5 154394966 154394966 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:154394966C>T ENST00000435029.4 + 1 1707 c.1547C>T c.(1546-1548)gCt>gTt p.A516V NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 516 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ACTCAGCATGCTCTCCATCAA 0.493000 36 46 0 0 0.006230 0 0 FAM83F 113828 broad.mit.edu 37 22 40417373 40417373 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:40417373G>A ENST00000333407.5 + 4 953 c.859G>A c.(859-861)Gag>Aag p.E287K FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 287 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 CTTTGACACGGAGTTCCGGGA 0.602000 149 14 0 0 0.003610 0 0 MAPK13 5603 broad.mit.edu 37 6 36106167 36106167 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:36106167G>A ENST00000211287.4 + 9 970 c.708G>A c.(706-708)ctG>ctA p.L236L MAPK13_ENST00000373766.5_Intron|MAPK13_ENST00000373761.6_Silent_p.L226L|MAPK13_ENST00000373759.1_Intron NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 236 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 CCCAGATCCTGAAAGTGACCG 0.602000 28 2 0 0 0.002445 0 0 MAGI1 9223 broad.mit.edu 37 3 65365004 65365004 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:65365004C>T ENST00000330909.8 - 18 3010 c.3011G>A c.(3010-3012)gGg>gAg p.G1004E MAGI1_ENST00000402939.2_Missense_Mutation_p.G976E|MAGI1_ENST00000483466.1_Missense_Mutation_p.G1004E|MAGI1_ENST00000497477.2_Missense_Mutation_p.G976E NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1004 Interaction with FCHSD2.|PDZ 5. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CTCGTTCTCCCCGCGCCGGAT 0.672000 4 12 0 0 0.000248 0 0 MYH13 8735 broad.mit.edu 37 17 10247364 10247364 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10247364G>A ENST00000418404.3 - 15 1810 c.1647C>T c.(1645-1647)tcC>tcT p.S549S MYH13_ENST00000252172.4_Silent_p.S549S|MYH13_ENST00000570743.1_Silent_p.S549S Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 549 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGTTCTTGAAGGAGGTGTCTG 0.498000 61 45 0 0 0.003610 0 0 DOCK9 23348 broad.mit.edu 37 13 99515687 99515687 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:99515687G>A ENST00000376460.1 - 31 3482 c.3402C>T c.(3400-3402)atC>atT p.I1134I DOCK9_ENST00000339416.2_Silent_p.I1135I|DOCK9_ENST00000442173.1_Silent_p.I1134I|DOCK9_ENST00000448493.2_Silent_p.I1146I|DOCK9_ENST00000461998.1_5'UTR NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1135 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CACTGATGGCGATCAGACGGA 0.493000 23 53 0 0 0.006320 0 0 BAHCC1 57597 broad.mit.edu 37 17 79408918 79408918 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:79408918C>T ENST00000307745.7 + 9 543 c.543C>T c.(541-543)ttC>ttT p.F181F ACCACAACTTCCCCAGCGTGG 0.677000 24 92 0 0 0.006320 0 0 CCDC171 203238 broad.mit.edu 37 9 15578922 15578922 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:15578922G>A ENST00000380701.3 + 4 581 c.253G>A c.(253-255)Gaa>Aaa p.E85K CCDC171_ENST00000535968.1_Missense_Mutation_p.E85K|CCDC171_ENST00000297641.3_Missense_Mutation_p.E85K NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 85 ACAAAGTCTGGAATATGACCT 0.473000 14 16 0 0 0.002450 0 0 TLE6 79816 broad.mit.edu 37 19 2991957 2991957 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:2991957C>T ENST00000246112.4 + 14 1562 c.1361C>T c.(1360-1362)cCt>cTt p.P454L TLE6_ENST00000452088.1_Missense_Mutation_p.P331L NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 331 regulation of transcription, DNA-dependent nucleus p.P331H(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATCATGAAACCTCTGGAGTAC 0.567000 18 30 0 0 0.007413 0 0 DNMBP 23268 broad.mit.edu 37 10 101731860 101731860 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:101731860G>A ENST00000342239.3 - 2 113 c.22C>T c.(22-24)Cga>Tga p.R8* DNMBP_ENST00000324109.4_Nonsense_Mutation_p.R8* Q6XZF7 DNMBP_HUMAN dynamin binding protein 8 SH3 1. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) AAAATGGCTCGAACCACTGAG 0.403000 37 84 0 0 0.004289 0 0 KAZN 23254 broad.mit.edu 37 1 15370527 15370527 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:15370527C>T ENST00000376030.2 + 4 892 c.598C>T c.(598-600)Ctg>Ttg p.L200L KAZN_ENST00000503743.1_Silent_p.L200L|KAZN_ENST00000400797.3_Silent_p.L106L|KAZN_ENST00000422387.2_Silent_p.L200L|KAZN_ENST00000400798.2_Silent_p.L106L|KAZN_ENST00000361144.5_Silent_p.L194L NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 200 Interaction with PPL. keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 GGAGAAGGACCTGCTGGAGCG 0.657000 22 14 0 0 0.002780 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474497 140474497 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140474497G>A ENST00000194155.4 + 1 271 c.123G>A c.(121-123)acG>acA p.T41T NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 41 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGAGGAAACGGAGAGTGGCT 0.507000 11 57 0 0 0.001368 0 0 MSI1 4440 broad.mit.edu 37 12 120784124 120784124 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:120784124G>A ENST00000257552.2 - 13 949 c.859_splice c.e13-1 p.G287_splice NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 287 nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGGGTGAGAGCCTGGCAACC 0.687000 5 1 0 0 0.001168 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8660772 8660772 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:8660772G>A ENST00000270328.4 - 11 1619 c.1353C>T c.(1351-1353)ctC>ctT p.L451L ADAMTS10_ENST00000597188.1_Silent_p.L451L Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 451 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TGTTCAGGCAGAGCCCCAGGC 0.607000 41 92 0 0 0.006999 0 0 KDM2B 84678 broad.mit.edu 37 12 121877844 121877844 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:121877844G>A ENST00000377069.4 - 21 3844 c.3438C>T c.(3436-3438)atC>atT p.I1146I KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.I1215I|KDM2B_ENST00000542973.1_Silent_p.I583I NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 1215 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GCAGCTCCACGATGTTCCGGA 0.612000 5 7 0 0 0.000602 0 0 OPALIN 93377 broad.mit.edu 37 10 98108077 98108077 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:98108077G>A ENST00000419479.1 - 6 695 c.188C>T c.(187-189)tCa>tTa p.S63L OPALIN_ENST00000393871.1_Missense_Mutation_p.S50L|OPALIN_ENST00000371172.3_Missense_Mutation_p.S73L|OPALIN_ENST00000393870.2_Missense_Mutation_p.S62L|OPALIN_ENST00000536387.1_Missense_Mutation_p.S63L NM_001040103.1 NP_001035192.1 Q96PE5 OPALI_HUMAN oligodendrocytic myelin paranodal and inner loop protein 73 Golgi apparatus|integral to membrane|plasma membrane breast(1)|large_intestine(1)|lung(5)|prostate(2) 9 ATCAATTTCTGAAATTTCACA 0.323000 12 34 0 0 0.001855 0 0 ASIC4 55515 broad.mit.edu 37 2 220379729 220379729 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:220379729C>T ENST00000358078.4 + 1 678 c.664C>T c.(664-666)Cgg>Tgg p.R222W ASIC4_ENST00000347842.3_Missense_Mutation_p.R222W|AC053503.11_ENST00000429882.1_RNA Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 222 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity CTACCTGACCCGGCCTCACCT 0.692000 10 11 0 0 0.000673 0 0 ZBTB16 7704 broad.mit.edu 37 11 114121090 114121090 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:114121090G>T ENST00000335953.4 + 7 2215 c.1835G>T c.(1834-1836)cGg>cTg p.R612L RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R612L|ZBTB16_ENST00000535379.1_3'UTR NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 612 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CAGCGCTCCCGGGACTACTCG 0.617000 19 16 1.64293e-13 2.66972e-13 0.003330 1 0 TMPRSS11F 389208 broad.mit.edu 37 4 68930472 68930472 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:68930472C>T ENST00000356291.2 - 8 1005 c.946G>A c.(946-948)Gac>Aac p.D316N RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 316 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 ATAGATGAGTCTGGGAGGCAA 0.388000 14 22 0 0 0.004007 0 0 MTHFSD 64779 broad.mit.edu 37 16 86585798 86585798 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:86585798A>C ENST00000381214.5 - 3 242 c.224T>G c.(223-225)tTc>tGc p.F75C MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000543303.2_Missense_Mutation_p.F74C|MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000360900.6_Intron NM_001159378.1 NP_001152850.1 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain containing 75 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding endometrium(1)|large_intestine(3)|lung(6)|skin(1) 11 AAGGACGAAGAAGCGAGCACT 0.498000 24 22 0 0 0.002299 0 0 RANBP2 5903 broad.mit.edu 37 2 109383182 109383182 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:109383182C>T ENST00000283195.6 + 20 6313 c.6187C>T c.(6187-6189)Ctc>Ttc p.L2063F NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2063 RanBD1 2. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTTAAAAATTCTCAAAAACGA 0.383000 139 320 0 0 0.003610 0 0 FBRS 64319 broad.mit.edu 37 16 30680858 30680858 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:30680858C>T ENST00000356166.6 + 18 3923 c.2835C>T c.(2833-2835)ctC>ctT p.L945L FBRS_ENST00000287468.5_Silent_p.L425L|FBRS_ENST00000395073.2_Silent_p.L337L|FBRS_ENST00000568722.1_Silent_p.L337L Q9HAH7 FBRS_HUMAN fibrosin 425 ovary(1) 1 Colorectal(24;0.103) CTCACCTTCTCAGCAAGACCC 0.706000 97 96 0 0 0.003610 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745253 140745253 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140745253C>T ENST00000518069.1 + 1 1356 c.1356C>T c.(1354-1356)ttC>ttT p.F452F PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCCAATTTCCCTCAAGCCT 0.522000 27 138 0 0 0.005443 0 0 CA12 771 broad.mit.edu 37 15 63638846 63638846 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:63638846G>A ENST00000178638.3 - 3 609 c.169C>T c.(169-171)Ccc>Tcc p.P57S CA12_ENST00000344366.3_Missense_Mutation_p.P57S|CA12_ENST00000422263.2_Intron NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 57 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) AGGTCTATGGGGGACTGCAGC 0.547000 41 60 0 0 0.001951 0 0 BICD1 636 broad.mit.edu 37 12 32481427 32481427 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:32481427C>T ENST00000548411.1 + 5 2219 c.2038C>T c.(2038-2040)Ctg>Ttg p.L680L BICD1_ENST00000281474.5_Silent_p.L680L NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 680 Interacts with RAB6A. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GCTAAAGTCCCTGCTGAGCAC 0.507000 18 60 0 0 0.006122 0 0 ZNF609 23060 broad.mit.edu 37 15 64967899 64967899 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:64967899C>T ENST00000326648.3 + 4 2974 c.2846C>T c.(2845-2847)cCc>cTc p.P949L NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 949 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAAAAGAAGCCCGAGCTGAGC 0.527000 72 68 0 0 0.003610 0 0 GDPD3 79153 broad.mit.edu 37 16 30122787 30122787 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:30122787G>A ENST00000406256.3 - 7 1006 c.629C>T c.(628-630)tCc>tTc p.S210F NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 210 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 CAGGTAGTAGGAAAGCAGCAC 0.567000 22 93 0 0 0.003954 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52912063 52912063 + Missense_Mutation SNP A A G rs1044615 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:52912063A>G ENST00000371544.3 - 22 3827 c.3565T>C c.(3565-3567)Tgg>Cgg p.W1189R ZCCHC11_ENST00000257177.4_Missense_Mutation_p.W1189R NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1189 PAP-associated 2. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AGTCCCAGCCAAAGCTCCCCT 0.358000 12 31 0 0 0.002450 0 0 SFRP2 6423 broad.mit.edu 37 4 154702787 154702787 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:154702787G>A ENST00000274063.4 - 3 988 c.704C>T c.(703-705)tCg>tTg p.S235L NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 235 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding p.S235L(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) CCACAGCACCGATTTCTTCAG 0.512000 20 56 0 0 0.007413 0 0 CEACAM18 729767 broad.mit.edu 37 19 51984798 51984798 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:51984798C>T ENST00000396477.4 + 3 573 c.552C>T c.(550-552)tcC>tcT p.S184S CEACAM18_ENST00000451626.1_Silent_p.S245S NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 245 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGACAATTTCCCCAGACGGCA 0.488000 10 26 0 0 0.000978 0 0 BCL11B 64919 broad.mit.edu 37 14 99737530 99737530 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:99737530G>A ENST00000345514.2 - 1 292 c.26C>T c.(25-27)cCg>cTg p.P9L BCL11B_ENST00000443726.2_Missense_Mutation_p.P9L|BCL11B_ENST00000357195.3_Missense_Mutation_p.P9L NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 0 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CAAGTGCTGCGGGTTGCCCTG 0.701000 T TLX3 T-ALL 3 7 0 0 0.000248 0 0 TSKS 60385 broad.mit.edu 37 19 50250056 50250056 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:50250056C>T ENST00000246801.3 - 6 746 c.e6-1 TSKS_ENST00000358830.3_Splice_Site NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GCAGCTTCTCCTGGGTGGTAA 0.647000 5 28 0 0 0.000602 0 0 OBSCN 84033 broad.mit.edu 37 1 228505743 228505743 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:228505743G>A ENST00000570156.2 + 64 16945 c.16871G>A c.(16870-16872)gGg>gAg p.G5624E OBSCN_ENST00000366707.4_Missense_Mutation_p.G2301E|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4667E|OBSCN_ENST00000422127.1_Missense_Mutation_p.G4667E|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1786E NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4667 SH3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGCCCGGTGGGCGGTTCGAG 0.627000 45 45 0 0 0.003610 0 0 NPY5R 4889 broad.mit.edu 37 4 164272238 164272238 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:164272238C>T ENST00000515560.1 + 4 2335 c.813C>T c.(811-813)ctC>ctT p.L271L NPY5R_ENST00000338566.3_Silent_p.L271L|NPY5R_ENST00000506953.1_Silent_p.L271L Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 271 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) AGGTGAAACTCTCTGGCAGCC 0.398000 37 19 0 0 0.005524 0 0 OR1J1 347168 broad.mit.edu 37 9 125240167 125240167 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:125240167G>A ENST00000259357.2 - 1 68 c.39C>T c.(37-39)ctC>ctT p.L13L NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GGCCCAGGAGGAGGAACTCGG 0.552000 40 49 0 0 0.001951 0 0 NACA 4666 broad.mit.edu 37 12 57112468 57112468 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57112468G>A ENST00000454682.1 - 3 3127 c.2846C>T c.(2845-2847)tCc>tTc p.S949F NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TCCTTTAGGGGAGGGAGGAGT 0.647000 T BCL6 NHL 14 98 0 0 0.003163 0 0 REP15 387849 broad.mit.edu 37 12 27849684 27849684 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:27849684C>T ENST00000310791.2 + 1 257 c.189C>T c.(187-189)ttC>ttT p.F63F RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA NM_001029874.1 NP_001025045.1 Q6BDI9 REP15_HUMAN RAB15 effector protein 63 early endosome membrane breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1) 9 Lung SC(9;0.0873) TAATCCATTTCATCACTTTCT 0.453000 21 23 0 0 0.001523 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520449 33520449 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:33520449G>A ENST00000297307.5 - 1 963 c.878C>T c.(877-879)gCc>gTc p.A293V NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 293 DUF6 2. integral to membrane CAGTATAAGGGCCACAACCAC 0.577000 83 110 0 0 0.003610 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57867865 57867865 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57867865C>A ENST00000393797.2 - 19 2340 c.2148G>T c.(2146-2148)ctG>ctT p.L716L ARHGAP9_ENST00000356411.2_Silent_p.L645L|ARHGAP9_ENST00000550288.1_Silent_p.L705L|ARHGAP9_ENST00000393791.3_Silent_p.L626L|ARHGAP9_ENST00000430041.2_Silent_p.L442L|ARHGAP9_ENST00000424809.2_Silent_p.L626L Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 645 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) GTGGTGGCACCAGAGGCTGGG 0.552000 5 62 0.000602214 0.000967026 0.000602 1 0 FAT3 120114 broad.mit.edu 37 11 92565004 92565004 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:92565004C>A ENST00000298047.6 + 13 9715 c.9698C>A c.(9697-9699)cCc>cAc p.P3233H FAT3_ENST00000409404.2_Missense_Mutation_p.P3233H|FAT3_ENST00000525166.1_Missense_Mutation_p.P3083H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3233 Cadherin 29. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AATGACAACCCCCCTGTGTTT 0.557000 TCGA Ovarian(4;0.039) 9 314 0.000274275 0.000440745 0.004482 1 0 ALK 238 broad.mit.edu 37 2 29754793 29754793 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:29754793G>A ENST00000389048.3 - 4 2048 c.1142C>T c.(1141-1143)cCa>cTa p.P381L ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 381 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) ATGCTTCCCTGGAGTGGGCAT 0.512000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 27 18 0 0 0.007291 0 0 KCNT2 343450 broad.mit.edu 37 1 196300392 196300392 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:196300392C>T ENST00000367433.5 - 18 2099 c.e18-1 KCNT2_ENST00000367431.4_Splice_Site|KCNT2_ENST00000498426.1_Splice_Site|KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000294725.8_Splice_Site Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TTTAGCATACCTGTAAAATAA 0.318000 54 204 0 0 0.003610 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597558 136597558 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:136597558C>T ENST00000531224.1 - 5 1357 c.1105G>A c.(1105-1107)Ggg>Agg p.G369R BCLAF1_ENST00000353331.4_Missense_Mutation_p.G367R|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G367R|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G369R|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G367R NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 369 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTGCCCTCCCTTTCTCTGAT 0.428000 66 168 0 0 0.003610 0 0 PUF60 22827 broad.mit.edu 37 8 144900408 144900408 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:144900408G>A ENST00000526683.1 - 7 1113 c.558C>T c.(556-558)gcC>gcT p.A186A PUF60_ENST00000349157.6_Silent_p.A169A|PUF60_ENST00000453551.2_Silent_p.A143A|PUF60_ENST00000313352.7_Silent_p.A126A|PUF60_ENST00000456095.2_Silent_p.A157A|PUF60_ENST00000527197.1_Silent_p.A140A|PUF60_ENST00000524570.1_5'UTR NM_001271098.1|NM_078480.1 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 186 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 1. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TCTGCTCCAAGGCCAGCTGTG 0.657000 4 5 0 0 0.000602 0 0 ACBD7 414149 broad.mit.edu 37 10 15121003 15121003 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:15121003G>A ENST00000356189.5 - 2 96 c.49C>T c.(49-51)Ctg>Ttg p.L17L ACBD7_ENST00000496890.1_5'UTR NM_001039844.2 NP_001034933.1 Q8N6N7 ACBD7_HUMAN acyl-CoA binding domain containing 7 17 ACB. fatty-acyl-CoA binding endometrium(1)|lung(4)|prostate(1) 6 CTTGCTTTCAGCTTCCTCACA 0.363000 25 45 0 0 0.006320 0 0 PCK1 5105 broad.mit.edu 37 20 56140548 56140548 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:56140548G>A ENST00000319441.4 + 10 1721 c.1557G>A c.(1555-1557)aaG>aaA p.K519K PCK1_ENST00000543666.1_Silent_p.K202K NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 519 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GGTTCCGGAAGGACAAGGAAG 0.547000 20 48 0 0 0.001216 0 0 NFU1 27247 broad.mit.edu 37 2 69650762 69650762 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:69650762G>A ENST00000410022.2 - 3 459 c.254C>T c.(253-255)aCc>aTc p.T85I NFU1_ENST00000471185.1_Intron|NFU1_ENST00000394305.1_Intron|NFU1_ENST00000303698.3_Missense_Mutation_p.T61I NM_001002755.2 NP_001002755.1 Q9UMS0 NFU1_HUMAN NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) 85 iron-sulfur cluster assembly cytosol|mitochondrion|nucleus 4 iron, 4 sulfur cluster binding|iron ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 7 AAAATCCATGGTCCTTGTCTC 0.373000 7 26 0 0 0.006214 0 0 SLC4A1 6521 broad.mit.edu 37 17 42330638 42330638 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:42330638C>T ENST00000262418.6 - 17 2314 c.2159G>A c.(2158-2160)gGg>gAg p.G720E NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 720 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCAGGGCATCCCAAAGAGGGC 0.637000 22 29 0 0 0.001523 0 0 MTR 4548 broad.mit.edu 37 1 237054611 237054611 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:237054611C>T ENST00000366577.5 + 29 3580 c.3186C>T c.(3184-3186)ttC>ttT p.F1062F MTR_ENST00000535889.1_Silent_p.F1011F NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 1062 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TAGCCACCTTCTATGGGTTAA 0.527000 60 30 0 0 0.003610 0 0 MYO18B 84700 broad.mit.edu 37 22 26423526 26423526 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:26423526G>A ENST00000335473.7 + 43 7836 c.7586G>A c.(7585-7587)gGa>gAa p.G2529E MYO18B_ENST00000536101.1_Missense_Mutation_p.G2529E|MYO18B_ENST00000407587.2_Missense_Mutation_p.G2530E NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2529 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGTCGACCAGGAATCCCACGA 0.602000 37 4 0 0 0.003214 0 0 POM121 9883 broad.mit.edu 37 7 72413956 72413956 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:72413956C>T ENST00000395270.1 + 14 3670 c.2629C>T c.(2629-2631)Ccc>Tcc p.P877S POM121_ENST00000434423.2_Missense_Mutation_p.P1142S|POM121_ENST00000446813.1_Missense_Mutation_p.P877S|POM121_ENST00000257622.4_Missense_Mutation_p.P877S|POM121_ENST00000358357.3_Missense_Mutation_p.P877S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1142 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CACCTCCACCCCCTTCGCAGG 0.612000 18 37 0 0 0.007291 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61405054 61405054 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:61405054C>T ENST00000496593.1 + 0 1658 NR_002775.2 AGGATGAAGCCAAGGAAGAGT 0.537000 15 16 0 0 0.004990 0 0 BMPER 168667 broad.mit.edu 37 7 34091542 34091542 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:34091542C>T ENST00000297161.2 + 9 1120 c.746C>T c.(745-747)tCc>tTc p.S249F BMPER_ENST00000426693.1_Missense_Mutation_p.S249F|BMPER_ENST00000494786.1_3'UTR NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 249 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GACAATGGATCCTCATTTCTG 0.463000 134 102 0 0 0.003610 0 0 B4GALT6 9331 broad.mit.edu 37 18 29206972 29206972 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:29206972G>A ENST00000306851.5 - 7 1185 c.889C>T c.(889-891)Ctt>Ttt p.L297F B4GALT6_ENST00000237019.7_Missense_Mutation_p.L258F|B4GALT6_ENST00000383131.3_Missense_Mutation_p.L258F NM_004775.3 NP_004766.2 Q9UBX8 B4GT6_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 297 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1) 20 OV - Ovarian serous cystadenocarcinoma(10;0.00791) CTGTTCCAAAGGTCATCATCT 0.348000 12 50 0 0 0.002450 0 0 TGFBR2 7048 broad.mit.edu 37 3 30732960 30732960 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:30732960C>T ENST00000295754.5 + 7 1955 c.1573C>T c.(1573-1575)Cca>Tca p.P525S TGFBR2_ENST00000359013.4_Missense_Mutation_p.P550S NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 525 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 GGACCACGACCCAGAGGCCCG 0.607000 13 36 0 0 0.002450 0 0 CEBPE 1053 broad.mit.edu 37 14 23588290 23588290 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:23588290C>T ENST00000206513.5 - 1 535 c.11G>A c.(10-12)gGg>gAg p.G4E NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 4 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) GTAGTAGGTCCCGTGGGACAT 0.701000 6 7 0 0 0.001984 0 0 SCN5A 6331 broad.mit.edu 37 3 38674777 38674777 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:38674777G>A ENST00000413689.1 - 2 215 c.22C>T c.(22-24)Cgg>Tgg p.R8W SCN5A_ENST00000449557.2_Missense_Mutation_p.R8W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R8W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R8W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R8W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R8W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R8W|SCN5A_ENST00000333535.4_Missense_Mutation_p.R8W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R8W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R8W NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 8 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTGGTGCCCCGAGGTAATAGG 0.592000 13 23 0 0 0.006122 0 0 MED13 9969 broad.mit.edu 37 17 60106997 60106997 + Silent SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:60106997A>G ENST00000397786.2 - 8 1264 c.1188T>C c.(1186-1188)gcT>gcC p.A396A NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 396 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CACCTGATGAAGCAGAATACT 0.338000 19 41 0 0 0.001523 0 0 MYO18A 399687 broad.mit.edu 37 17 27419908 27419908 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:27419908G>A ENST00000527372.1 - 33 5218 c.5038C>T c.(5038-5040)Ccc>Tcc p.P1680S MYO18A_ENST00000354329.4_Missense_Mutation_p.P1680S|MYO18A_ENST00000531253.1_Missense_Mutation_p.P1680S|MYO18A_ENST00000533112.1_Missense_Mutation_p.P1643S NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1680 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CGCTTGCTGGGAGCACTGTTC 0.562000 27 103 0 0 0.001512 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6263963 6263963 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:6263963C>A ENST00000400104.3 - 5 402 c.202G>T c.(202-204)Gtt>Ttt p.V68F L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V68F|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V68F|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.V68F Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 68 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) AACAGCTCAACAGGTGCTGCG 0.443000 54 12 3.37043e-27 5.50099e-27 0.003610 1 0 NACA 4666 broad.mit.edu 37 12 57112564 57112564 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57112564G>A ENST00000454682.1 - 3 3031 c.2750C>T c.(2749-2751)tCc>tTc p.S917F NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTTGGGGGAGGAAGAAGT 0.607000 T BCL6 NHL 9 84 0 0 0.006214 0 0 DCC 1630 broad.mit.edu 37 18 50961561 50961561 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:50961561G>A ENST00000442544.2 + 22 3827 c.3211G>A c.(3211-3213)Gat>Aat p.D1071N DCC_ENST00000581580.1_Missense_Mutation_p.D706N NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1071 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TAATTTGATTGATAGAAGCAC 0.328000 69 165 0 0 0.003610 0 0 ZNF786 136051 broad.mit.edu 37 7 148768946 148768946 + Silent SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:148768946G>T ENST00000316286.9 - 3 932 c.660C>A c.(658-660)ctC>ctA p.L220L ZNF786_ENST00000491431.1_Silent_p.L306L|ZNF786_ENST00000451334.3_Silent_p.L269L Q8N393 ZN786_HUMAN zinc finger protein 786 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGTCCACTGGGAGGGAGCGCT 0.701000 8 29 0.000673444 0.00108114 0.000673 1 0 RAPGEF4 11069 broad.mit.edu 37 2 173679042 173679042 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:173679042G>A ENST00000264111.6 + 4 520 c.333G>A c.(331-333)acG>acA p.T111T RAPGEF4_ENST00000397081.3_Silent_p.T111T|RAPGEF4_ENST00000409036.1_Silent_p.T111T Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 111 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) GAATTGGGACGGCCTTTGGAG 0.483000 26 39 0 0 0.001786 0 0 NEK10 152110 broad.mit.edu 37 3 27393991 27393991 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:27393991G>A ENST00000429845.2 - 4 459 c.97C>T c.(97-99)Cgg>Tgg p.R33W NEK10_ENST00000341435.5_Missense_Mutation_p.R33W Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 33 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AAAAGGCACCGAAGTCTTTTA 0.413000 33 25 0 0 0.002836 0 0 SLC1A6 6511 broad.mit.edu 37 19 15079196 15079196 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:15079196C>T ENST00000598504.1 - 6 1826 c.467G>A c.(466-468)gGg>gAg p.G156E SLC1A6_ENST00000600144.1_Missense_Mutation_p.G156E|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G156E|SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000221742.3_Missense_Mutation_p.G156E NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 156 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GGAGCCCTTCCCGGGATGGAT 0.607000 15 10 0 0 0.004990 0 0 NPY4R 5540 broad.mit.edu 37 10 47087258 47087258 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:47087258G>A ENST00000374312.1 + 3 894 c.475G>A c.(475-477)Ggg>Agg p.G159R NPY4R_ENST00000395716.1_Missense_Mutation_p.G159R NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 GGCCTACCTGGGGATTGTGCT 0.582000 21 146 0 0 0.001523 0 0 WWTR1 25937 broad.mit.edu 37 3 149260244 149260244 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:149260244C>T ENST00000465804.1 - 5 905 c.649G>A c.(649-651)Ggg>Agg p.G217R WWTR1_ENST00000467467.1_Missense_Mutation_p.G217R|WWTR1_ENST00000360632.3_Missense_Mutation_p.G217R NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 217 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CTCATGAGCCCTGCGGGTGGG 0.557000 T CAMTA1 epitheliod hemangioendothelioma 10 46 0 0 0.000978 0 0 PRR5 55615 broad.mit.edu 37 22 45133024 45133024 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:45133024C>T ENST00000403581.1 + 10 1742 c.1133C>T c.(1132-1134)tCc>tTc p.S378F PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.S355F|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron NM_001198721.1 NP_001185650.1 proline rich 5 (renal) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) ATCCTGGAGTCCGTGGACTCG 0.662000 18 94 0 0 0.006122 0 0 GSTK1 373156 broad.mit.edu 37 7 142960620 142960620 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:142960620C>T ENST00000479303.1 + 1 72 c.14C>T c.(13-15)cCg>cTg p.P5L GSTK1_ENST00000358406.5_Missense_Mutation_p.P5L|GSTK1_ENST00000409500.3_Missense_Mutation_p.P5L|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000443571.2_Missense_Mutation_p.P5L NM_001143679.1 NP_001137151.1 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 5 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity p.P5Q(2) lung(4) 4 Melanoma(164;0.059) Glutathione(DB00143) GGGCCCCTGCCGCGCACCGTG 0.677000 31 98 0 0 0.004289 0 0 DSCAM 1826 broad.mit.edu 37 21 41447141 41447141 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:41447141C>T ENST00000400454.1 - 27 5189 c.e27-1 NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGAATTGTACCTGAAAGCAGG 0.498000 10 38 0 0 0.000978 0 0 ZAN 7455 broad.mit.edu 37 7 100346084 100346084 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100346084C>T ENST00000542585.1 + 0 1388 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGGAGGTTTCCCTAATGCAGG 0.582000 18 2 0 0 0.007413 0 0 MUC16 94025 broad.mit.edu 37 19 9089642 9089642 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9089642G>A ENST00000397910.4 - 1 2376 c.2173C>T c.(2173-2175)Cct>Tct p.P725S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 725 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACAACAGAGGAATGCTGGTG 0.498000 22 63 0 0 0.001882 0 0 NEUROD4 58158 broad.mit.edu 37 12 55421163 55421163 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:55421163G>A ENST00000242994.3 + 2 1318 c.940G>A c.(940-942)Gat>Aat p.D314N NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 314 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 CATGTCCTATGATTCCTACCC 0.453000 103 1286 0 0 0.003610 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744114 31744114 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:31744114G>A ENST00000399889.2 - 1 443 c.418C>T c.(418-420)Ctc>Ttc p.L140F NM_181621.3 NP_853652.1 Q52LG2 KR132_HUMAN keratin associated protein 13-2 140 intermediate filament endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 21 CCATAGCCGAGGGAAGGGAAG 0.572000 11 21 0 0 0.001855 0 0 CEACAM6 4680 broad.mit.edu 37 19 42260607 42260607 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:42260607C>T ENST00000199764.6 + 2 382 c.164C>T c.(163-165)gCc>gTc p.A55V CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 55 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CTTCTACTCGCCCACAACCTG 0.493000 40 99 0 0 0.006999 0 0 HCN1 348980 broad.mit.edu 37 5 45396809 45396809 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:45396809C>T ENST00000303230.4 - 4 1072 c.1015G>A c.(1015-1017)Gat>Aat p.D339N NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 339 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.D339N(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CCCCAAGAATCATTCTGCAAC 0.418000 14 62 0 0 0.003163 0 0 DDI1 414301 broad.mit.edu 37 11 103908311 103908311 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:103908311C>T ENST00000302259.3 + 1 1004 c.761C>T c.(760-762)cCt>cTt p.P254L PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 254 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) AATGGGCATCCTTTGAAGGCT 0.493000 65 62 0 0 0.003610 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74623646 74623646 + Missense_Mutation SNP T T G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:74623646T>G ENST00000156626.7 - 3 1050 c.851A>C c.(850-852)aAg>aCg p.K284T ST6GALNAC1_ENST00000590878.1_5'UTR NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 284 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 GGCTTTGATCTTCACAGAGTC 0.562000 50 52 0 0 0.003610 0 0 MYH8 4626 broad.mit.edu 37 17 10305102 10305102 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10305102C>T ENST00000403437.2 - 23 2783 c.2688_splice c.e23-1 p.E897_splice CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 897 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTATCTGCTTCCTATGGAGAG 0.358000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 88 49 0 0 0.003610 0 0 ZNF343 79175 broad.mit.edu 37 20 2473352 2473352 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:2473352G>A ENST00000278772.4 - 5 784 c.297C>T c.(295-297)ctC>ctT p.L99L RP4-734P14.4_ENST00000461548.1_Silent_p.L99L|ZNF343_ENST00000358413.2_Silent_p.L99L|ZNF343_ENST00000381253.1_Silent_p.L99L NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 99 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 TACCCAATGAGAGAAGATTCC 0.378000 22 14 0 0 0.001882 0 0 WWC2 80014 broad.mit.edu 37 4 184166646 184166646 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:184166646C>T ENST00000403733.3 + 6 879 c.680C>T c.(679-681)tCt>tTt p.S227F WWC2_ENST00000378925.3_Missense_Mutation_p.S129F|WWC2_ENST00000504005.1_Intron|WWC2_ENST00000513834.1_Missense_Mutation_p.S227F|WWC2_ENST00000448232.2_Missense_Mutation_p.S227F NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 227 p.S227F(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) GAACTAAAATCTATCAGAAAG 0.368000 16 14 0 0 0.004007 0 0 OLFML2A 169611 broad.mit.edu 37 9 127561573 127561573 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:127561573G>A ENST00000373580.3 + 4 472 c.472G>A c.(472-474)Gcc>Acc p.A158T NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 158 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 GAGCATCAAGGCCAACCTGAG 0.587000 20 21 0 0 0.003954 0 0 ADCY9 115 broad.mit.edu 37 16 4027629 4027629 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:4027629G>A ENST00000294016.3 - 9 3220 c.2682C>T c.(2680-2682)ttC>ttT p.F894F NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 894 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TGAACACTGGGAACTGCAAGA 0.617000 10 13 0 0 0.000978 0 0 NGF 4803 broad.mit.edu 37 1 115828696 115828696 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:115828696C>T ENST00000369512.2 - 3 889 c.721G>A c.(721-723)Gcc>Acc p.A241T RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 241 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) GCAGGTCAGGCTCTTCTCACA 0.552000 15 34 0 0 0.004007 0 0 TMEM106C 79022 broad.mit.edu 37 12 48359717 48359717 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:48359717C>T ENST00000429772.2 + 4 461 c.348C>T c.(346-348)gaC>gaT p.D116D TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000449758.2_Silent_p.D116D|TMEM106C_ENST00000256686.6_Silent_p.D116D|TMEM106C_ENST00000552546.1_Silent_p.D45D|TMEM106C_ENST00000552561.1_Silent_p.D116D|TMEM106C_ENST00000550552.1_Silent_p.D116D NM_001143842.1 NP_001137314.1 Q9BVX2 T106C_HUMAN transmembrane protein 106C 116 endoplasmic reticulum membrane|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) TGGATGATGACGGCATCAAAG 0.463000 12 340 0 0 0.001368 0 0 DCDC1 341019 broad.mit.edu 37 11 30946894 30946894 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:30946894C>T ENST00000597505.1 - 21 2958 c.2959G>A c.(2959-2961)Gaa>Aaa p.E987K DCDC1_ENST00000339794.5_Missense_Mutation_p.E66K|DCDC1_ENST00000406071.2_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 222 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GCAAATATTTCCTTCCCCTTT 0.348000 88 31 0 0 0.003610 0 0 KCNQ2 3785 broad.mit.edu 37 20 62073779 62073779 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:62073779C>T ENST00000354587.3 - 5 972 c.796G>A c.(796-798)Gat>Aat p.D266N KCNQ2_ENST00000370221.1_Missense_Mutation_p.D266N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D266N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D266N|KCNQ2_ENST00000430658.1_Missense_Mutation_p.D266N|KCNQ2_ENST00000344425.5_Missense_Mutation_p.D266N|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D266N|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D266N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D266N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D266N|KCNQ2_ENST00000370222.3_Missense_Mutation_p.D266N|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D266N O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 266 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CAGAGTGCATCCGCGTAGGTG 0.577000 53 212 0 0 0.003610 0 0 CDC27 996 broad.mit.edu 37 17 45219350 45219350 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:45219350A>C ENST00000066544.3 - 12 1513 c.1420T>G c.(1420-1422)Tta>Gta p.L474V CDC27_ENST00000531206.1_Missense_Mutation_p.L480V|CDC27_ENST00000527547.1_Missense_Mutation_p.L473V|CDC27_ENST00000446365.2_Missense_Mutation_p.L413V NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 474 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CACAAAGCTAAATAACCTTTC 0.378000 73 100 0 0 0.003610 0 0 UCHL5 51377 broad.mit.edu 37 1 193018906 193018906 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:193018906G>A ENST00000367455.3 - 3 451 c.216C>T c.(214-216)tcC>tcT p.S72S UCHL5_ENST00000367451.4_Silent_p.S72S|UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367449.1_Silent_p.S72S|UCHL5_ENST00000367454.1_Silent_p.S72S|UCHL5_ENST00000367448.1_Silent_p.S72S|UCHL5_ENST00000530098.2_Intron NM_015984.3 NP_057068.1 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 72 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1) 19 TGTCAAGTCGGGAGTCCTGAA 0.398000 10 56 0 0 0.000673 0 0 MRC2 9902 broad.mit.edu 37 17 60754805 60754805 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:60754805C>T ENST00000303375.5 + 12 2412 c.2010C>T c.(2008-2010)ccC>ccT p.P670P NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 670 endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GCTCCTGTCCCCAGGGCTGGG 0.672000 17 15 0 0 0.001216 0 0 CNTN4 152330 broad.mit.edu 37 3 2928832 2928832 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:2928832G>A ENST00000397461.1 + 9 1248 c.864G>A c.(862-864)gaG>gaA p.E288E CNTN4_ENST00000418658.1_Silent_p.E288E|CNTN4_ENST00000427331.1_Silent_p.E288E|CNTN4_ENST00000358480.3_Silent_p.E69E NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 288 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding p.E288D(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TTCAGCAGGAGGATGCTGGTT 0.398000 7 23 0 0 0.001984 0 0 DNAH7 56171 broad.mit.edu 37 2 196659083 196659083 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:196659083G>A ENST00000312428.6 - 57 10795 c.10695C>T c.(10693-10695)ttC>ttT p.F3565F DNAH7_ENST00000409063.1_Silent_p.F48F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3565 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGCTGCCAAAGAACTCCGGAT 0.463000 27 50 0 0 0.006320 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156925567 156925567 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:156925567C>T ENST00000368194.3 - 20 2735 c.1696G>A c.(1696-1698)Gat>Aat p.D566N ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D526N NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 526 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCCAAGGCATCCTTTTCTTTC 0.498000 149 216 0 0 0.003610 0 0 INA 9118 broad.mit.edu 37 10 105048256 105048256 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:105048256C>T ENST00000369849.4 + 3 1379 c.1330C>T c.(1330-1332)Cta>Tta p.L444L NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 444 Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ATCCACTGGGCTATCACTTAA 0.473000 34 77 0 0 0.005524 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140740132 140740132 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140740132G>A ENST00000522605.1 + 1 430 c.430G>A c.(430-432)Gaa>Aaa p.E144K PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAAATTGGCGAATCCACTAA 0.368000 19 55 0 0 0.001882 0 0 SERPINB3 6317 broad.mit.edu 37 18 61324626 61324626 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:61324626G>A ENST00000283752.5 - 6 633 c.490C>T c.(490-492)Cct>Tct p.P164S SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.P164S NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 164 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TTACCTTCAGGAATTAGGTTT 0.353000 24 79 0 0 0.006320 0 0 CDK14 5218 broad.mit.edu 37 7 90741917 90741917 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:90741917G>A ENST00000406263.1 + 12 1519 c.1077G>A c.(1075-1077)aaG>aaA p.K359K CDK14_ENST00000436577.2_Silent_p.K276K|CDK14_ENST00000265741.3_Silent_p.K387K|CDK14_ENST00000380050.3_Silent_p.K405K O94921 CDK14_HUMAN cyclin-dependent kinase 14 405 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 GTTCCCCAAAGAACAGACTGT 0.502000 129 84 0 0 0.003610 0 0 PLOD1 5351 broad.mit.edu 37 1 12012792 12012792 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:12012792G>A ENST00000196061.4 + 5 606 c.579_splice c.e5+1 p.R193_splice PLOD1_ENST00000376369.3_Splice_Site_p.R240_splice|PLOD1_ENST00000485046.1_3'UTR NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 193 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CGGAGAAGAGGGTAAGAGGCA 0.632000 20 19 0 0 0.001882 0 0 ANKRD17 26057 broad.mit.edu 37 4 73987397 73987397 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:73987397G>A ENST00000358602.4 - 19 3688 c.3572C>T c.(3571-3573)gCt>gTt p.A1191V ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1078V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A940V|ANKRD17_ENST00000514252.1_5'UTR NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1191 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCCACCAGAAGCAGCCAGACT 0.393000 12 39 0 0 0.001368 0 0 NAT6 24142 broad.mit.edu 37 3 50334761 50334761 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:50334761G>A ENST00000443842.1 - 2 941 c.134C>T c.(133-135)cCt>cTt p.P45L HYAL3_ENST00000450982.1_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.P45L|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000443094.2_Missense_Mutation_p.P45L|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000354862.4_Missense_Mutation_p.P67L|HYAL3_ENST00000513170.1_Intron N-acetyltransferase 6 (GCN5-related) endometrium(3)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CTGGTGTTCAGGATCCAGGGT 0.602000 9 50 0 0 0.000673 0 0 DIDO1 11083 broad.mit.edu 37 20 61510928 61510928 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:61510928C>T ENST00000266070.4 - 16 6705 c.6380G>A c.(6379-6381)cGg>cAg p.R2127Q DIDO1_ENST00000395343.1_Missense_Mutation_p.R2127Q NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2127 Arg-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) gtcccagtcccgctctcggct 0.721000 37 62 0 0 0.005524 0 0 SMPX 23676 broad.mit.edu 37 X 21761934 21761934 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:21761934C>T ENST00000379494.3 - 3 299 c.66G>A c.(64-66)atG>atA p.M22I SMPX_ENST00000494525.1_5'UTR NM_014332.2 NP_055147.1 Q9UHP9 SMPX_HUMAN small muscle protein, X-linked 22 striated muscle contraction breast(1)|endometrium(1) 2 GAAAGGCTCCCATTGGAATAT 0.428000 34 48 0 0 0.006230 0 0 CSMD3 114788 broad.mit.edu 37 8 113293562 113293562 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:113293562G>A ENST00000297405.5 - 59 9593 c.9349C>T c.(9349-9351)Cca>Tca p.P3117S CSMD3_ENST00000352409.3_Missense_Mutation_p.P3047S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2948S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3077S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3117 Sushi 23. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTGGTTCCTGGGTTACCACAC 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 22 0 0 0.002780 0 0 SCUBE1 80274 broad.mit.edu 37 22 43616481 43616481 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:43616481G>A ENST00000360835.3 - 14 1788 c.1662C>T c.(1660-1662)atC>atT p.I554I NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 554 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) TCTTTGTCTCGATCTCAAACT 0.607000 23 110 0 0 0.005443 0 0 MXRA5 25878 broad.mit.edu 37 X 3241058 3241058 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:3241058C>T ENST00000217939.6 - 5 2822 c.2668G>A c.(2668-2670)Gac>Aac p.D890N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 890 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCGGAAAGGTCATCAACAACT 0.473000 46 6 0 0 0.003610 0 0 ZGPAT 84619 broad.mit.edu 37 20 62364577 62364577 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:62364577C>T ENST00000328969.5 + 3 718 c.591C>T c.(589-591)tcC>tcT p.S197S ZGPAT_ENST00000355969.6_Silent_p.S197S|ZGPAT_ENST00000369967.3_Silent_p.S197S|ZGPAT_ENST00000448100.1_Silent_p.S197S|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000357119.4_Silent_p.S197S NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 197 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GCAGGTTCTCCCATGGGCAGG 0.652000 12 60 0 0 0.001855 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307585 46307585 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:46307585G>A ENST00000221538.3 - 3 1720 c.1578C>T c.(1576-1578)ttC>ttT p.F526F RSPH6A_ENST00000597055.1_Silent_p.F526F|RSPH6A_ENST00000600188.1_Silent_p.F262F NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 526 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GGATGCCCTCGAAGTCCGGGT 0.652000 15 27 0 0 0.002450 0 0 MYH2 4620 broad.mit.edu 37 17 10435093 10435093 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10435093C>T ENST00000245503.5 - 22 2938 c.2554G>A c.(2554-2556)Gag>Aag p.E852K CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E852K NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 852 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ATCTCCTTCTCAGTTTCTGCA 0.428000 39 45 0 0 0.001951 0 0 BPIFB2 80341 broad.mit.edu 37 20 31600668 31600668 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:31600668G>A ENST00000170150.3 + 4 458 c.263G>A c.(262-264)gGa>gAa p.G88E NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 88 extracellular region lipid binding GCTGGTTTCGGAGTGCGCCTG 0.532000 47 226 0 0 0.003610 0 0 MYO15A 51168 broad.mit.edu 37 17 18040975 18040975 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:18040975C>T ENST00000205890.5 + 16 5195 c.4857C>T c.(4855-4857)atC>atT p.I1619I NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1619 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCAACAAGATCGTCTTCCAGG 0.517000 8 37 0 0 0.000673 0 0 FLAD1 80308 broad.mit.edu 37 1 154965400 154965400 + Nonsense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:154965400G>T ENST00000292180.3 + 7 1973 c.1651G>T c.(1651-1653)Gag>Tag p.E551* FLAD1_ENST00000368428.1_Nonsense_Mutation_p.E92*|FLAD1_ENST00000315144.10_Nonsense_Mutation_p.E454*|FLAD1_ENST00000295530.2_3'UTR|FLAD1_ENST00000368432.1_3'UTR|FLAD1_ENST00000405236.2_3'UTR NM_025207.4 NP_079483.3 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 551 FAD synthase. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGGAGTCGGGAGAATACCGT 0.597000 6 16 0.00198382 0.00318022 0.001984 1 0 PTPRB 5787 broad.mit.edu 37 12 70960288 70960288 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:70960288C>T ENST00000334414.6 - 15 3875 c.3831G>A c.(3829-3831)aaG>aaA p.K1277K PTPRB_ENST00000551525.1_Silent_p.K1276K|PTPRB_ENST00000451516.2_Silent_p.K969K|PTPRB_ENST00000550857.1_Silent_p.K969K|PTPRB_ENST00000550358.1_Silent_p.K1189K|PTPRB_ENST00000261266.5_Silent_p.K1059K|PTPRB_ENST00000538708.1_Intron NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1059 Fibronectin type-III 15. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCTTGTATTTCTTGCCTGGTG 0.433000 16 161 0 0 0.004990 0 0 MYH1 4619 broad.mit.edu 37 17 10398382 10398382 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10398382C>T ENST00000226207.5 - 37 5426 c.5332G>A c.(5332-5334)Gac>Aac p.D1778N CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1778 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCGCTGGTGTCCTGTTCCTTC 0.507000 29 136 0 0 0.003271 0 0 EPS15L1 58513 broad.mit.edu 37 19 16547762 16547762 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:16547762G>A ENST00000597937.1 - 6 362 c.358C>T c.(358-360)Cac>Tac p.H120Y EPS15L1_ENST00000535753.2_Missense_Mutation_p.H120Y|EPS15L1_ENST00000594975.1_Missense_Mutation_p.H120Y|EPS15L1_ENST00000248070.6_Missense_Mutation_p.H120Y|EPS15L1_ENST00000455140.2_Missense_Mutation_p.H120Y NM_001258376.1 NP_001245305.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 120 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 ACAGCCCAGTGGGCCTCTGCA 0.498000 33 31 0 0 0.007835 0 0 C15orf27 123591 broad.mit.edu 37 15 76496495 76496495 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:76496495G>A ENST00000388942.3 + 11 1711 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 479 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 CCCCGAGCTGGAACACAGGGT 0.642000 19 132 0 0 0.001882 0 0 UROC1 131669 broad.mit.edu 37 3 126224595 126224595 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:126224595C>T ENST00000290868.2 - 8 815 c.762G>A c.(760-762)ggG>ggA p.G254G UROC1_ENST00000383579.3_Silent_p.G254G NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 254 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) TGGCCTGAGCCCCACTCATTC 0.642000 14 36 0 0 0.003163 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140718610 140718610 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140718610G>A ENST00000394576.2 + 1 72 c.72G>A c.(70-72)tgG>tgA p.W24* PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACCCTGTGGGAGGCCAGGG 0.582000 OREG0016854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 40 0 0 0.003330 0 0 OGDH 4967 broad.mit.edu 37 7 44715757 44715757 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:44715757C>T ENST00000443864.2 + 9 1308 c.1215C>T c.(1213-1215)ccC>ccT p.P405P OGDH_ENST00000449767.1_Intron|OGDH_ENST00000222673.5_Intron|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000444676.1_Intron NM_001003941.2 NP_001003941.1 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) AGGTAAGGCCCAGAGAGAGGC 0.557000 57 28 0 0 0.003610 0 0 OSMR 9180 broad.mit.edu 37 5 38904051 38904051 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:38904051G>A ENST00000274276.3 + 8 1461 c.1059G>A c.(1057-1059)tgG>tgA p.W353* NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 353 Fibronectin type-III 1. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TCATGACCTGGAAGGTGCACT 0.313000 5 46 0 0 0.000602 0 0 HNF1A 6927 broad.mit.edu 37 12 121432128 121432128 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:121432128G>A ENST00000257555.6 + 4 1101 c.875G>A c.(874-876)gGg>gAg p.G292E HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Missense_Mutation_p.G292E|HNF1A_ENST00000543427.1_Missense_Mutation_p.G175E|HNF1A_ENST00000402929.1_Missense_Mutation_p.G292E|HNF1A_ENST00000400024.2_Missense_Mutation_p.G292E|HNF1A_ENST00000544413.1_Missense_Mutation_p.G292E P20823 HNF1A_HUMAN HNF1 homeobox A 292 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.P291fs*47(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCCCCCCCAGGGCCAGGCCCG 0.662000 Hepatic Adenoma, Familial Clustering of 36 70 0 0 0.006230 0 0 DDC 1644 broad.mit.edu 37 7 50605624 50605624 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:50605624C>T ENST00000444124.2 - 4 569 c.369G>A c.(367-369)ggG>ggA p.G123G DDC_ENST00000357936.5_Silent_p.G123G|DDC_ENST00000426377.1_Intron|DDC_ENST00000431062.1_Silent_p.G123G|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000380984.4_Silent_p.G123G|DDC_ENST00000489162.1_5'UTR NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 123 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CCAGCATCTTCCCGAGCCAGT 0.562000 32 71 0 0 0.003271 0 0 LELP1 149018 broad.mit.edu 37 1 153177437 153177437 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:153177437C>T ENST00000368747.1 + 2 364 c.254C>T c.(253-255)tCc>tTc p.S85F NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 85 Cys/Pro-rich. NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGCCCTTCATCCTGCCCACAT 0.642000 6 27 0 0 0.001168 0 0 SNX29 92017 broad.mit.edu 37 16 12136845 12136845 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:12136845C>T ENST00000566228.1 + 5 408 c.339C>T c.(337-339)ggC>ggT p.G113G SNX29_ENST00000568359.1_3'UTR NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 0 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 CAGACGTGGGCCGGGGTCGCG 0.652000 10 21 0 0 0.000978 0 0 SLC11A2 4891 broad.mit.edu 37 12 51390708 51390708 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:51390708G>A ENST00000394904.3 - 9 859 c.810C>T c.(808-810)ttC>ttT p.F270F SLC11A2_ENST00000546743.1_Silent_p.F162F|SLC11A2_ENST00000545993.2_Silent_p.F237F|SLC11A2_ENST00000262051.7_Silent_p.F241F|SLC11A2_ENST00000547198.1_Silent_p.F241F|SLC11A2_ENST00000547688.1_Silent_p.F270F|SLC11A2_ENST00000541174.2_Silent_p.F241F|SLC11A2_ENST00000262052.5_Silent_p.F241F NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 241 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 AGGATGGTACGAACATGCCCT 0.493000 11 2 0 0 0.001368 0 0 NEB 4703 broad.mit.edu 37 2 152520287 152520287 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:152520287G>A ENST00000427231.2 - 45 5740 c.5538C>T c.(5536-5538)ttC>ttT p.F1846F NEB_ENST00000603639.1_Silent_p.F1846F|NEB_ENST00000604864.1_Silent_p.F1846F|NEB_ENST00000409198.1_Silent_p.F1846F|NEB_ENST00000172853.10_Silent_p.F1846F|NEB_ENST00000397345.3_Silent_p.F1846F NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1846 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CCACTTGCATGAAGTGCACCA 0.507000 15 45 0 0 0.003163 0 0 WNK1 65125 broad.mit.edu 37 12 1005702 1005702 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:1005702G>A ENST00000537687.1 + 24 7472 c.6829G>A c.(6829-6831)Gct>Act p.A2277T WNK1_ENST00000530271.2_Missense_Mutation_p.A2515T|WNK1_ENST00000535572.1_Missense_Mutation_p.A1769T|WNK1_ENST00000315939.6_Missense_Mutation_p.A2017T|WNK1_ENST00000340908.4_Missense_Mutation_p.A1610T NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2017 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CCCGGAGGCCGCTTTTTTAAG 0.498000 11 36 0 0 0.000978 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7505331 7505331 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:7505331C>T ENST00000359920.6 + 1 758 c.505C>T c.(505-507)Cca>Tca p.P169S CTD-2207O23.3_ENST00000593531.1_Silent_p.S126S|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.P11S NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 169 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) GGGTCCCCAGCCAACACCGAG 0.682000 11 31 0 0 0.001368 0 0 PEG3 5178 broad.mit.edu 37 19 57326893 57326893 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:57326893C>T ENST00000326441.9 - 10 3280 c.2917G>A c.(2917-2919)Gag>Aag p.E973K ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E849K|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E847K|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E973K|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 973 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCCCCACACTCCTGACATTCA 0.468000 31 103 0 0 0.003271 0 0 MYO1G 64005 broad.mit.edu 37 7 45006306 45006306 + Silent SNP G G A rs144708261 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:45006306G>A ENST00000258787.7 - 15 2050 c.1914C>T c.(1912-1914)ttC>ttT p.F638F NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 638 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 GGCGGGAAGCGAAGCCAGCCC 0.602000 18 123 0 0 0.006122 0 0 DNAI2 64446 broad.mit.edu 37 17 72278110 72278110 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:72278110C>T ENST00000579490.1 + 1 460 c.325C>T c.(325-327)Cag>Tag p.Q109* DNAI2_ENST00000311014.6_Nonsense_Mutation_p.Q52*|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.Q52*|DNAI2_ENST00000582036.1_Nonsense_Mutation_p.Q52* Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 52 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CACGGGCATCCAGTGCTCGAT 0.662000 Kartagener syndrome 42 49 0 0 0.003214 0 0 MYO7B 4648 broad.mit.edu 37 2 128367446 128367446 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:128367446T>A ENST00000389524.4 + 24 3100 c.3047T>A c.(3046-3048)gTc>gAc p.V1016D MYO7B_ENST00000428314.1_Missense_Mutation_p.V1016D|MYO7B_ENST00000409816.2_Missense_Mutation_p.V1016D Q6PIF6 MYO7B_HUMAN myosin VIIB 1016 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ATATGGAACGTCATCCTGAGG 0.592000 6 6 0 0 0.006214 0 0 RNF186 54546 broad.mit.edu 37 1 20141231 20141231 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:20141231C>T ENST00000375121.2 - 1 540 c.364G>A c.(364-366)Ggg>Agg p.G122R RP11-91K11.2_ENST00000454736.1_RNA NM_019062.1 NP_061935.1 Q9NXI6 RN186_HUMAN ring finger protein 186 122 integral to membrane zinc ion binding kidney(1)|lung(3)|urinary_tract(1) 5 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCCACCAGCCCCTGAGGACAG 0.662000 19 26 0 0 0.001216 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202306 140202306 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140202306G>A ENST00000529859.1 + 1 946 c.946G>A c.(946-948)Gaa>Aaa p.E316K PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E316K|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E316K|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAACTCATATGAAATTAATAT 0.323000 6 31 0 0 0.001168 0 0 CACNA1B 774 broad.mit.edu 37 9 140964210 140964210 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:140964210G>A ENST00000371372.1 + 32 4814 c.4668_splice c.e32-1 p.E1557_splice CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000277551.2_Splice_Site_p.E1557_splice|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1557 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCACATGTAGGAAACGGTTGG 0.483000 7 16 0 0 0.004482 0 0 PRIMA1 145270 broad.mit.edu 37 14 94245645 94245645 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:94245645C>T ENST00000393140.1 - 3 208 c.106G>A c.(106-108)Gag>Aag p.E36K PRIMA1_ENST00000316227.3_Missense_Mutation_p.E36K|PRIMA1_ENST00000393143.1_Missense_Mutation_p.E36K NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 36 neurotransmitter catabolic process cell junction|integral to membrane|synapse endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) TTCTGGGGCTCACCATGCGTC 0.652000 11 4 0 0 0.001523 0 0 GLP2R 9340 broad.mit.edu 37 17 9765355 9765355 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:9765355G>A ENST00000262441.5 + 9 1517 c.1004G>A c.(1003-1005)gGg>gAg p.G335E GLP2R_ENST00000574745.1_Missense_Mutation_p.G155E NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 335 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) ACAACAAATGGGAATAAGAAA 0.473000 78 58 0 0 0.003610 0 0 SYNJ1 8867 broad.mit.edu 37 21 34018742 34018742 + Missense_Mutation SNP G G C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:34018742G>C ENST00000382499.2 - 24 3324 c.3325C>G c.(3325-3327)Cga>Gga p.R1109G SYNJ1_ENST00000433931.2_Missense_Mutation_p.R1109G|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R1070G|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R1065G|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R1070G NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1070 Poly-Pro.|Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GACGGTGCTCGGCTTGGTCTG 0.527000 32 62 0 0 0.003271 0 0 GCSAML 148823 broad.mit.edu 37 1 247737590 247737590 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:247737590G>A ENST00000366491.2 + 7 751 c.254G>A c.(253-255)aGg>aAg p.R85K GCSAML_ENST00000536561.1_Missense_Mutation_p.R85K|GCSAML_ENST00000527084.1_Missense_Mutation_p.R73K|GCSAML_ENST00000366488.4_Missense_Mutation_p.R105K|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000527541.1_Missense_Mutation_p.R73K|GCSAML_ENST00000366489.1_Missense_Mutation_p.R85K|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000463359.1_Missense_Mutation_p.R73K germinal center-associated, signaling and motility-like TTTAGAGAAAGGTCAGAGACA 0.438000 12 35 0 0 0.000978 0 0 DSG4 147409 broad.mit.edu 37 18 28968840 28968840 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:28968840T>A ENST00000359747.4 + 5 405 c.376T>A c.(376-378)Tat>Aat p.Y126N RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.Y126N NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 126 Cadherin 1. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCCACAGATCTATTGCCGGGC 0.363000 44 102 0 0 0.003610 0 0 CYP2D7 1564 broad.mit.edu 37 22 42536661 42536661 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:42536661G>A ENST00000435101.1 - 0 342 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 CTTCCAGACGGCCTCATCCTT 0.607000 6 9 0 0 0.001168 0 0 OR1L6 392390 broad.mit.edu 37 9 125512429 125512429 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:125512429G>A ENST00000373684.1 + 1 411 c.411G>A c.(409-411)caG>caA p.Q137Q OR1L6_ENST00000304720.2_Silent_p.Q101Q Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 GCCTGGCCCAGATGTACTTCT 0.488000 21 71 0 0 0.003330 0 0 PLEC 5339 broad.mit.edu 37 8 144994613 144994613 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:144994613G>A ENST00000322810.4 - 32 9956 c.9787C>T c.(9787-9789)Ccc>Tcc p.P3263S PLEC_ENST00000354589.3_Missense_Mutation_p.P3126S|PLEC_ENST00000345136.3_Missense_Mutation_p.P3126S|PLEC_ENST00000527096.1_Missense_Mutation_p.P3149S|PLEC_ENST00000398774.2_Missense_Mutation_p.P3094S|PLEC_ENST00000354958.2_Missense_Mutation_p.P3104S|PLEC_ENST00000436759.2_Missense_Mutation_p.P3153S|PLEC_ENST00000356346.3_Missense_Mutation_p.P3112S|PLEC_ENST00000357649.2_Missense_Mutation_p.P3130S NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3263 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGCTCCCGGGGAATGAGGCCC 0.667000 8 11 0 0 0.003080 0 0 CAPZA3 93661 broad.mit.edu 37 12 18892056 18892056 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:18892056G>A ENST00000317658.3 + 1 1012 c.854G>A c.(853-855)gGa>gAa p.G285E NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 285 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) CCTAAATTAGGATATGTCATT 0.383000 6 52 0 0 0.001984 0 0 C10orf90 118611 broad.mit.edu 37 10 128147757 128147757 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:128147757G>A ENST00000284694.7 - 6 1869 c.1749C>T c.(1747-1749)ttC>ttT p.F583F C10orf90_ENST00000544758.1_Silent_p.F680F|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000356858.3_Silent_p.F536F|C10orf90_ENST00000454341.1_Silent_p.F486F NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 583 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) AGCGAGAAATGAACTGAGGCT 0.493000 29 69 0 0 0.001786 0 0 XIST 7503 broad.mit.edu 37 X 73064557 73064557 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:73064557G>A ENST00000429829.1 - 0 8031 NR_001564.2 AACAGGCCAGGAAAATGGGCC 0.468000 21 24 0 0 0.002780 0 0 TBCE 6905 broad.mit.edu 37 1 235594039 235594039 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:235594039C>T ENST00000543662.1 + 7 686 c.580C>T c.(580-582)Ccc>Tcc p.P194S TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.P194S|TBCE_ENST00000406207.1_Missense_Mutation_p.P194S Q15813 TBCE_HUMAN tubulin folding cofactor E 194 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) ACTAAAATTTCCCTCCGGTTC 0.338000 16 19 0 0 0.004007 0 0 AK9 221264 broad.mit.edu 37 6 109962759 109962759 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:109962759G>A ENST00000424296.2 - 10 971 c.895C>T c.(895-897)Cag>Tag p.Q299* AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Nonsense_Mutation_p.Q299*|AK9_ENST00000368948.2_Nonsense_Mutation_p.Q299* NM_001145128.2 NP_001138600.2 adenylate kinase 9 TCTGCACCCTGAAGTTTGGTT 0.343000 20 3 0 0 0.002299 0 0 DCC 1630 broad.mit.edu 37 18 50866258 50866258 + Nonsense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:50866258T>A ENST00000442544.2 + 15 2956 c.2340T>A c.(2338-2340)taT>taA p.Y780* DCC_ENST00000412726.1_Nonsense_Mutation_p.Y628*|DCC_ENST00000581580.1_Nonsense_Mutation_p.Y435* NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 780 Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCAGCGATATTATTCCATTG 0.393000 10 25 0 0 0.000978 0 0 DHRS7C 201140 broad.mit.edu 37 17 9674859 9674859 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:9674859G>A ENST00000330255.4 - 6 897 c.885C>T c.(883-885)ttC>ttT p.F295F DHRS7C_ENST00000571134.1_Silent_p.F294F NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 295 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 CCACCACGGCGAAAAAGAACT 0.577000 11 5 0 0 0.001855 0 0 ABCF1 23 broad.mit.edu 37 6 30546140 30546140 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:30546140C>T ENST00000326195.8 + 5 471 c.359C>T c.(358-360)cCc>cTc p.P120L ABCF1_ENST00000376545.3_Missense_Mutation_p.P120L|ABCF1_ENST00000396515.4_Intron NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 120 inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 GCCCCAAAACCCCGCGGAGGG 0.488000 12 70 0 0 0.003163 0 0 OR8S1 341568 broad.mit.edu 37 12 48919812 48919812 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:48919812G>A ENST00000310194.1 + 1 398 c.398G>A c.(397-399)gGa>gAa p.G133E OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 CTACTTTATGGACAGATCATG 0.527000 23 388 0 0 0.002299 0 0 ZNF764 92595 broad.mit.edu 37 16 30569482 30569482 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:30569482G>A ENST00000395091.2 - 1 337 c.22C>T c.(22-24)Ctc>Ttc p.L8F ZNF764_ENST00000252797.2_Missense_Mutation_p.L8F|AC002310.13_ENST00000568114.1_Missense_Mutation_p.L8F Q96H86 ZN764_HUMAN zinc finger protein 764 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 CGGGGAGGGAGCGGGGCCAGA 0.726000 13 11 0 0 0.004990 0 0 HNF1A 6927 broad.mit.edu 37 12 121434148 121434148 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:121434148C>T ENST00000257555.6 + 5 1265 c.1039C>T c.(1039-1041)Ccc>Tcc p.P347S HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Missense_Mutation_p.P347S|HNF1A_ENST00000543427.1_Missense_Mutation_p.P230S|HNF1A_ENST00000402929.1_Missense_Mutation_p.P347S|HNF1A_ENST00000400024.2_Missense_Mutation_p.P347S|HNF1A_ENST00000544413.1_Missense_Mutation_p.P347S P20823 HNF1A_HUMAN HNF1 homeobox A 347 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGTGTCTACACCCCTCCACCA 0.592000 Hepatic Adenoma, Familial Clustering of 241 83 0 0 0.003610 0 0 PKD1L1 168507 broad.mit.edu 37 7 47874793 47874793 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:47874793G>A ENST00000289672.2 - 38 6042 c.5992C>T c.(5992-5994)Ctg>Ttg p.L1998L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1998 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGGGTACACAGGAGACCCACC 0.572000 30 19 0 0 0.003755 0 0 CD163 9332 broad.mit.edu 37 12 7632536 7632536 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:7632536A>T ENST00000359156.4 - 16 3602 c.3400T>A c.(3400-3402)Ttt>Att p.F1134I CD163_ENST00000396620.3_Intron|CD163_ENST00000541972.1_Intron|CD163_ENST00000432237.2_Intron NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1134 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 ATAGGAAGAAATTTAGACACA 0.373000 7 28 0 0 0.001984 0 0 UBQLN4 56893 broad.mit.edu 37 1 156013896 156013896 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:156013896G>A ENST00000368309.3 - 6 1111 c.1019C>T c.(1018-1020)tCc>tTc p.S340F UBQLN4_ENST00000368307.1_Intron NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 340 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) GGGGGCCTGGGAGGTGGGGGG 0.687000 4 18 0 0 0.000248 0 0 ZNF254 9534 broad.mit.edu 37 19 24309664 24309664 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:24309664C>T ENST00000357002.4 + 4 977 c.862C>T c.(862-864)Cat>Tat p.H288Y ZNF254_ENST00000342944.6_Missense_Mutation_p.H203Y NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 288 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TAAGATAATTCATACTGGAGA 0.353000 7 29 0 0 0.001984 0 0 CLLU1OS 574016 broad.mit.edu 37 12 92816326 92816326 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:92816326C>T ENST00000378487.2 - 2 140 c.139G>A c.(139-141)Gaa>Aaa p.E47K RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Missense_Mutation_p.E47K NM_001025232.1 NP_001020403.1 Q5K130 CLU1O_HUMAN chronic lymphocytic leukemia up-regulated 1 opposite strand 47 large_intestine(1)|lung(7) 8 CACTAACCTTCATTTCTACCA 0.393000 10 10 0 0 0.000673 0 0 ATP6V1E2 90423 broad.mit.edu 37 2 46739724 46739724 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:46739724C>T ENST00000306448.4 - 2 1240 c.127G>A c.(127-129)Gga>Aga p.G43R ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.G43R NM_080653.3 NP_542384.1 Q96A05 VATE2_HUMAN ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 43 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain proton-transporting ATPase activity, rotational mechanism cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.151) ACGAGGCGTCCTTTCTCAATG 0.438000 77 57 0 0 0.003610 0 0 PCSK5 5125 broad.mit.edu 37 9 78953354 78953354 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:78953354C>T ENST00000545128.1 + 34 5414 c.4876C>T c.(4876-4878)Caa>Taa p.Q1626* NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 791 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GACTTGTGATCAATGCAAAGG 0.473000 6 16 0 0 0.001984 0 0 KCNH2 3757 broad.mit.edu 37 7 150649601 150649601 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:150649601G>A ENST00000392968.2 - 4 2301 c.1181C>T c.(1180-1182)gCc>gTc p.A394V KCNH2_ENST00000330883.4_Missense_Mutation_p.A150V|KCNH2_ENST00000262186.5_Missense_Mutation_p.A490V|KCNH2_ENST00000430723.3_Missense_Mutation_p.A490V Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 490 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GTAGTGGACGGCGATGCGGCC 0.592000 36 78 0 0 0.007835 0 0 RETSAT 54884 broad.mit.edu 37 2 85577173 85577173 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:85577173G>A ENST00000295802.4 - 4 901 c.789C>T c.(787-789)ttC>ttT p.F263F RETSAT_ENST00000263854.6_Silent_p.F263F|RETSAT_ENST00000457495.2_Silent_p.F202F NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 263 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) CGTAAGTGGGGAAGATGTAGC 0.597000 20 18 0 0 0.001216 0 0 OR5H6 79295 broad.mit.edu 37 3 97983782 97983782 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:97983782C>T ENST00000383696.2 + 1 695 c.654C>T c.(652-654)ttC>ttT p.F218F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F218F(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TTTTTATTTTCGCAGGTTCTG 0.299000 6 28 0 0 0.001984 0 0 STON1 11037 broad.mit.edu 37 2 48807966 48807966 + Missense_Mutation SNP C C T rs77258218 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:48807966C>T ENST00000309835.3 + 1 204 c.194C>T c.(193-195)cCc>cTc p.P65L STON1_ENST00000406226.1_Missense_Mutation_p.P65L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P65L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P65L|STON1_ENST00000404752.1_Missense_Mutation_p.P65L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P65L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P65L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P65L stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTCTCCTCCCCCATTGTAGAT 0.507000 36 102 0 0 0.005524 0 0 ABCA9 10350 broad.mit.edu 37 17 67012496 67012496 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:67012496C>T ENST00000340001.4 - 22 3148 c.2937G>A c.(2935-2937)cgG>cgA p.R979R ABCA9_ENST00000370732.2_Silent_p.R979R|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Silent_p.R979R NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 979 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) AGCAATTCAGCCGTTTTGTAT 0.353000 49 55 0 0 0.003610 0 0 AKAP6 9472 broad.mit.edu 37 14 33291510 33291510 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:33291510C>T ENST00000280979.4 + 13 4661 c.4491C>T c.(4489-4491)ccC>ccT p.P1497P AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1497 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TGGAGGATCCCCTGCTTCGTG 0.368000 21 15 0 0 0.001882 0 0 ACVRL1 94 broad.mit.edu 37 12 52309924 52309924 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:52309924A>T ENST00000550683.1 + 7 1296 c.1195A>T c.(1195-1197)Atc>Ttc p.I399F ACVRL1_ENST00000419526.2_Missense_Mutation_p.I211F|ACVRL1_ENST00000388922.4_Missense_Mutation_p.I385F NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 385 Protein kinase. W -> S (in HHT2; dbSNP:rs28936402). blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) GGACGAGCAGATCCGCACGGA 0.607000 55 26 0 0 0.003610 0 0 SND1 27044 broad.mit.edu 37 7 127729645 127729645 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:127729645C>T ENST00000354725.3 + 22 2717 c.2523C>T c.(2521-2523)acC>acT p.T841T NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 841 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 CCCATGTCACCCTGCAGTTTG 0.597000 25 77 0 0 0.003330 0 0 OR2G6 391211 broad.mit.edu 37 1 248685814 248685814 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248685814C>T ENST00000343414.4 + 1 899 c.867C>T c.(865-867)atC>atT p.I289I NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCCCATTATCTACACTCTGA 0.443000 42 29 0 0 0.002222 0 0 TENC1 23371 broad.mit.edu 37 12 53452367 53452367 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:53452367C>T ENST00000314250.6 + 16 1527 c.1237C>T c.(1237-1239)Ccc>Tcc p.P413S TENC1_ENST00000552570.1_Missense_Mutation_p.P413S|TENC1_ENST00000314276.3_Missense_Mutation_p.P423S|TENC1_ENST00000451358.1_Missense_Mutation_p.P413S|TENC1_ENST00000546602.1_Missense_Mutation_p.P413S|TENC1_ENST00000379902.3_Missense_Mutation_p.P289S|TENC1_ENST00000549700.1_Missense_Mutation_p.P413S NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 413 C2 tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 TGAGAGGTTCCCCTTCCAAGC 0.622000 38 25 0 0 0.003610 0 0 UPF3B 65109 broad.mit.edu 37 X 118971903 118971903 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:118971903G>A ENST00000276201.2 - 10 1188 c.1119C>T c.(1117-1119)cgC>cgT p.R373R UPF3B_ENST00000345865.2_Silent_p.R360R NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 373 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 TCTGCCTACGGCGCTCTTCTT 0.463000 64 13 0 0 0.003610 0 0 GUCY2F 2986 broad.mit.edu 37 X 108638692 108638692 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:108638692G>A ENST00000218006.2 - 12 2593 c.2302C>T c.(2302-2304)Cct>Tct p.P768S NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 768 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TACACAGGAGGAGGCTTCTTA 0.468000 96 21 0 0 0.003610 0 0 SART1 9092 broad.mit.edu 37 11 65734964 65734964 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:65734964C>T ENST00000312397.5 + 11 1428 c.1336C>T c.(1336-1338)Cga>Tga p.R446* NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 446 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGGTCGCCGCCGAGTGTCCGA 0.677000 16 26 0 0 0.003163 0 0 ZFAND2A 90637 broad.mit.edu 37 7 1195110 1195110 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:1195110G>A ENST00000401903.1 - 4 520 c.261C>T c.(259-261)caC>caT p.H87H ZFAND2A_ENST00000316495.3_Silent_p.H87H Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 87 cytoplasm|nucleus zinc ion binding lung(2)|ovary(1) 3 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) TCTTCCCAGGGTGAGAGTCAC 0.502000 98 55 0 0 0.003610 0 0 SELL 6402 broad.mit.edu 37 1 169672473 169672473 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:169672473C>T ENST00000236147.4 - 6 1074 c.914G>A c.(913-915)gGa>gAa p.G305E SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 292 Sushi 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) TAACTCAGTTCCTTCTGAGCA 0.438000 30 12 0 0 0.007291 0 0 HECTD4 283450 broad.mit.edu 37 12 112744000 112744000 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:112744000G>A ENST00000550722.1 - 7 1166 c.771C>T c.(769-771)ccC>ccT p.P257P HECTD4_ENST00000377560.5_Silent_p.P257P|HECTD4_ENST00000430131.2_Silent_p.P7P NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGCTGCCAATGGGGAGGTGAT 0.498000 5 5 0 0 0.000602 0 0 ACAN 176 broad.mit.edu 37 15 89386847 89386847 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:89386847C>T ENST00000439576.2 + 6 1393 c.1019C>T c.(1018-1020)cCc>cTc p.P340L ACAN_ENST00000559004.1_Missense_Mutation_p.P340L|ACAN_ENST00000352105.7_Missense_Mutation_p.P340L|ACAN_ENST00000561243.1_Missense_Mutation_p.P340L|ACAN_ENST00000558207.1_Missense_Mutation_p.P340L NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 340 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TACCCCGACCCCTCATCCCGC 0.642000 37 74 0 0 0.002222 0 0 RND1 27289 broad.mit.edu 37 12 49258632 49258632 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:49258632C>T ENST00000309739.5 - 2 272 c.142G>A c.(142-144)Gaa>Aaa p.E48K NM_014470.3 NP_055285.1 Q92730 RND1_HUMAN Rho family GTPase 1 48 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 GTGTAATTTTCGAACACGGTG 0.517000 36 158 0 0 0.004289 0 0 ODF2 4957 broad.mit.edu 37 9 131222920 131222920 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:131222920C>T ENST00000303890.5 + 5 668 c.83C>T c.(82-84)cCg>cTg p.P28L ODF2_ENST00000434106.2_Intron|ODF2_ENST00000351030.3_Missense_Mutation_p.P28L|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000448249.3_Missense_Mutation_p.P28L|ODF2_ENST00000372807.5_Missense_Mutation_p.P28L|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000372796.4_Intron|ODF2_ENST00000444119.2_Missense_Mutation_p.P28L|ODF2_ENST00000535026.1_Missense_Mutation_p.P28L NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 0 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 AAAAAACTCCCGAAACCATCA 0.567000 22 24 0 0 0.001523 0 0 MIR518B 574474 broad.mit.edu 37 19 54206011 54206011 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:54206011G>A ENST00000385127.1 + 0 21 NR_030196.1 GCCCTCCAGAGGGAAGCGCTT 0.418000 16 48 0 0 0.004990 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69049724 69049724 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:69049724A>G ENST00000295381.3 + 10 1869 c.1450A>G c.(1450-1452)Aga>Gga p.R484G ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R485G|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R477G|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.R178G|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R445G|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R478G NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 484 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 AGGGCACAGGAGAACGATGTC 0.537000 29 76 0 0 0.007291 0 0 ATP7B 540 broad.mit.edu 37 13 52548897 52548897 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:52548897G>A ENST00000242839.4 - 2 615 c.459C>T c.(457-459)acC>acT p.T153T ATP7B_ENST00000542656.1_Silent_p.T121T|ATP7B_ENST00000418097.2_Silent_p.T153T|ATP7B_ENST00000448424.2_Silent_p.T153T|ATP7B_ENST00000400366.3_Silent_p.T153T|ATP7B_ENST00000344297.5_Silent_p.T153T|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Silent_p.T153T NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 153 HMA 2. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) AGGACTGGCAGGTCATGCCCT 0.582000 Wilson disease 10 28 0 0 0.000673 0 0 CNGA2 1260 broad.mit.edu 37 X 150912737 150912737 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:150912737G>A ENST00000329903.4 + 6 1795 c.1762G>A c.(1762-1764)Gaa>Aaa p.E588K NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 588 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GGATGAGAACGAAGTGGCAAC 0.547000 74 16 0 0 0.003610 0 0 GRM7 2917 broad.mit.edu 37 3 7728080 7728080 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:7728080C>T ENST00000486284.1 + 10 3009 c.2735C>T c.(2734-2736)tCt>tTt p.S912F GRM7_ENST00000403881.1_Intron|GRM7_ENST00000357716.4_Intron|GRM7_ENST00000389336.4_Intron|GRM7_ENST00000402647.2_Missense_Mutation_p.S912F NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 0 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GTACAAAAGTCTGTTACTTGG 0.308000 18 46 0 0 0.002299 0 0 SCAF11 9169 broad.mit.edu 37 12 46320217 46320217 + Nonsense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:46320217A>C ENST00000465950.1 - 1 3531 c.2322T>G c.(2320-2322)taT>taG p.Y774* SCAF11_ENST00000419565.2_Nonsense_Mutation_p.Y1089*|SCAF11_ENST00000549162.1_Nonsense_Mutation_p.Y897*|SCAF11_ENST00000369367.3_Nonsense_Mutation_p.Y1089* Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1089 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TCTGATCTTTATAGGCAAAAC 0.428000 22 91 0 0 0.003330 0 0 OR4A16 81327 broad.mit.edu 37 11 55110799 55110799 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:55110799C>T ENST00000314721.2 + 1 173 c.123C>T c.(121-123)ctC>ctT p.L41L NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 TGGGAAACCTCCTCATTTGGG 0.433000 37 32 0 0 0.006999 0 0 SENP7 57337 broad.mit.edu 37 3 101062792 101062792 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:101062792G>A ENST00000394095.2 - 14 1897 c.1844C>T c.(1843-1845)tCt>tTt p.S615F SENP7_ENST00000348610.3_Missense_Mutation_p.S582F|SENP7_ENST00000358203.3_Missense_Mutation_p.S451F|SENP7_ENST00000314261.7_Missense_Mutation_p.S549F|SENP7_ENST00000394094.2_Missense_Mutation_p.S550F|SENP7_ENST00000394091.1_Missense_Mutation_p.S451F NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 615 proteolysis nucleus cysteine-type peptidase activity p.S549Y(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GAATTCACTAGATTTTGCTAC 0.259000 5 5 0 0 0.001168 0 0 EIF4G1 1981 broad.mit.edu 37 3 184035526 184035526 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:184035526C>T ENST00000342981.4 + 5 760 c.346C>T c.(346-348)Ccg>Tcg p.P116S EIF4G1_ENST00000352767.3_Missense_Mutation_p.P123S|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P116S|EIF4G1_ENST00000350481.5_5'UTR|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P76S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P116S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P29S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P123S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P76S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P29S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P123S NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 116 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATACGTTGTCCCGACACAGCA 0.557000 5 37 0 0 0.000602 0 0 SPAG9 9043 broad.mit.edu 37 17 49197823 49197823 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:49197823G>A ENST00000262013.7 - 1 403 c.195C>T c.(193-195)ttC>ttT p.F65F SPAG9_ENST00000357122.4_Silent_p.F65F|SPAG9_ENST00000505279.1_Silent_p.F65F NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 65 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) GGTCCTGCGCGAACACCGAGT 0.642000 4 18 0 0 0.000602 0 0 TRIM71 131405 broad.mit.edu 37 3 32932742 32932742 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:32932742C>T ENST00000383763.4 + 4 2109 c.2046C>T c.(2044-2046)ttC>ttT p.F682F NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 682 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCTTCACGTTCGAGGGCCAGT 0.577000 28 23 0 0 0.006320 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31958389 31958389 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:31958389C>A ENST00000357886.4 - 12 1503 c.1350G>T c.(1348-1350)acG>acT p.T450T CDK5RAP1_ENST00000339269.5_Silent_p.T359T|CDK5RAP1_ENST00000544843.1_Intron|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Silent_p.T436T|CDK5RAP1_ENST00000452723.3_Silent_p.T346T Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 450 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 GATCTTCCTCCGTCTCACCAC 0.527000 7 216 0.00307968 0.00492749 0.003080 1 0 HGSNAT 138050 broad.mit.edu 37 8 43054585 43054585 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:43054585C>T ENST00000458501.2 + 18 1865 c.1865C>T c.(1864-1866)cCc>cTc p.P622L HGSNAT_ENST00000521576.1_Missense_Mutation_p.P311L|HGSNAT_ENST00000297798.7_Missense_Mutation_p.P326L|HGSNAT_ENST00000379644.4_Missense_Mutation_p.P594L Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 622 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) AACTACTTCCCCTTTCAGTGG 0.483000 6 5 0 0 0.001168 0 0 GATA2 2624 broad.mit.edu 37 3 128205204 128205204 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:128205204C>T ENST00000341105.2 - 3 568 c.237G>A c.(235-237)ctG>ctA p.L79L GATA2_ENST00000487848.1_Silent_p.L79L|GATA2_ENST00000430265.2_Silent_p.L79L NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 79 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) GGCCTCCGGTCAGGCGGGCTG 0.652000 Mis AML(CML blast transformation) 7 20 0 0 0.000673 0 0 IL17RC 84818 broad.mit.edu 37 3 9959648 9959648 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:9959648C>T ENST00000295981.3 + 3 600 c.382C>T c.(382-384)Ccg>Tcg p.P128S IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000416074.2_5'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.P57S|IL17RC_ENST00000413608.1_Missense_Mutation_p.P57S|IL17RC_ENST00000383812.4_Missense_Mutation_p.P57S|IL17RC_ENST00000403601.3_Missense_Mutation_p.P57S NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 128 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CGTGCCTGCTCCGGGCCCCGT 0.622000 20 11 0 0 0.002299 0 0 NELL1 4745 broad.mit.edu 37 11 20869269 20869269 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:20869269C>T ENST00000298925.5 + 5 713 c.560C>T c.(559-561)tCt>tTt p.S187F NELL1_ENST00000357134.5_Missense_Mutation_p.S159F|NELL1_ENST00000532434.1_Missense_Mutation_p.S159F|NELL1_ENST00000325319.5_Intron Q92832 NELL1_HUMAN NEL-like 1 (chicken) 159 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GTTAGCGCCTCTCATCTCCTG 0.463000 8 4 0 0 0.003080 0 0 NUP88 4927 broad.mit.edu 37 17 5312176 5312176 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:5312176G>A ENST00000573584.1 - 5 1243 c.734C>T c.(733-735)cCa>cTa p.P245L NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa 245 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 TGCTGCCAATGGCCCAAAGTC 0.413000 29 23 0 0 0.002445 0 0 HNF1B 6928 broad.mit.edu 37 17 36093787 36093787 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:36093787C>T ENST00000225893.4 - 3 933 c.572G>A c.(571-573)gGa>gAa p.G191E HNF1B_ENST00000560016.1_Missense_Mutation_p.G191E|HNF1B_ENST00000561193.1_Intron|HNF1B_ENST00000427275.2_Intron NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 191 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TGTCATATTTCCAGAACTCTG 0.478000 198 255 0 0 0.003610 0 0 KRT40 125115 broad.mit.edu 37 17 39137388 39137388 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:39137388G>A ENST00000377755.4 - 4 737 c.703C>T c.(703-705)Cgt>Tgt p.R235C KRT40_ENST00000398486.2_Missense_Mutation_p.R235C Q6A162 K1C40_HUMAN keratin 40 235 Coil 1B.|Rod. R -> H (in dbSNP:rs2010027). intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) AGCTGTTCACGAAGCAAGTTG 0.498000 64 87 0 0 0.003610 0 0 N4BP2 55728 broad.mit.edu 37 4 40098995 40098995 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:40098995C>T ENST00000261435.6 + 3 451 c.35C>T c.(34-36)cCt>cTt p.P12L NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 12 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GGGGGAAATCCTTTTCGGAAG 0.403000 27 55 0 0 0.003271 0 0 PSMB7 5695 broad.mit.edu 37 9 127119142 127119142 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:127119142T>C ENST00000259457.3 - 7 636 c.623A>G c.(622-624)aAc>aGc p.N208S PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000536392.1_3'UTR NM_002799.3 NP_002790.1 Q99436 PSB7_HUMAN proteasome (prosome, macropain) subunit, beta type, 7 208 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1) 5 GCCCAGGTCGTTGAAGATGCC 0.557000 15 36 0 0 0.004990 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727911 20727911 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:20727911C>T ENST00000427401.4 - 4 1192 c.1098G>A c.(1096-1098)gaG>gaA p.E366E NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 366 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TGTAGGGTTTCTCTCCACTAT 0.403000 22 32 0 0 0.002299 0 0 PRKCG 5582 broad.mit.edu 37 19 54395012 54395012 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:54395012G>A ENST00000263431.3 + 6 896 c.614G>A c.(613-615)cGg>cAg p.R205Q PRKCG_ENST00000540413.1_Missense_Mutation_p.R205Q|PRKCG_ENST00000542049.1_Missense_Mutation_p.R92Q|PRKCG_ENST00000536044.1_Missense_Mutation_p.R205Q NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 205 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding p.R205Q(1) large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCAGACCCTCGGAACCTGACG 0.532000 24 103 0 0 0.002780 0 0 GHRH 2691 broad.mit.edu 37 20 35882724 35882724 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:35882724T>C ENST00000373614.2 - 4 308 c.197A>G c.(196-198)aAc>aGc p.N66S GHRH_ENST00000373611.2_Missense_Mutation_p.N66S|GHRH_ENST00000237527.3_Missense_Mutation_p.N66S P01286 SLIB_HUMAN growth hormone releasing hormone 66 activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food extracellular space|terminal button growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Myeloproliferative disorder(115;0.00878) TCGCTCTTGGTTGCTCTCTCT 0.498000 29 209 0 0 0.002096 0 0 AK8 158067 broad.mit.edu 37 9 135702305 135702305 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:135702305G>A ENST00000298545.3 - 8 1214 c.693C>T c.(691-693)ccC>ccT p.P231P AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 231 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 TGGGGTAGGAGGGAATGACCC 0.537000 42 116 0 0 0.003214 0 0 TTLL13 440307 broad.mit.edu 37 15 90801445 90801445 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:90801445G>A ENST00000438251.1 + 9 1401 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K TTLL13_ENST00000339615.5_Missense_Mutation_p.E371K|RP11-697E2.6_ENST00000561573.1_3'UTR A6NNM8 TTL13_HUMAN tubulin tyrosine ligase-like family, member 13 371 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 16 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) TGCCTGTTTTGAAATCCTTGG 0.473000 116 134 0 0 0.003610 0 0 PHKA1 5255 broad.mit.edu 37 X 71830924 71830924 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:71830924C>T ENST00000373545.3 - 21 2741 c.2303G>A c.(2302-2304)cGa>cAa p.R768Q PHKA1_ENST00000373539.3_Missense_Mutation_p.R827Q|PHKA1_ENST00000339490.3_Missense_Mutation_p.R827Q|PHKA1_ENST00000541944.1_Missense_Mutation_p.R768Q|PHKA1_ENST00000373542.4_Missense_Mutation_p.R827Q P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 827 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) AGAAATGTATCGGATCAGGCC 0.393000 18 4 0 0 0.001523 0 0 OR1J1 347168 broad.mit.edu 37 9 125240166 125240166 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:125240166G>A ENST00000259357.2 - 1 69 c.40C>T c.(40-42)Ctc>Ttc p.L14F NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 AGGCCCAGGAGGAGGAACTCG 0.552000 40 50 0 0 0.001951 0 0 ZC3H3 23144 broad.mit.edu 37 8 144621226 144621226 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:144621226G>A ENST00000262577.5 - 2 342 c.311C>T c.(310-312)cCt>cTt p.P104L NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 104 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CTGCGGGACAGGAGGCTGGCC 0.627000 40 32 0 0 0.007835 0 0 ADPRH 141 broad.mit.edu 37 3 119301087 119301087 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:119301087G>A ENST00000478399.1 + 2 1476 c.71G>A c.(70-72)tGg>tAg p.W24* ADPRH_ENST00000465513.1_Nonsense_Mutation_p.W24*|ADPRH_ENST00000357003.3_Nonsense_Mutation_p.W24*|ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000478927.1_Nonsense_Mutation_p.W24* P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 24 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) AATGGGAAGTGGGAGTTCCTC 0.572000 10 36 0 0 0.006214 0 0 UTP20 27340 broad.mit.edu 37 12 101693480 101693480 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:101693480A>T ENST00000261637.4 + 13 1625 c.1451A>T c.(1450-1452)aAg>aTg p.K484M NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 484 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 AAGCAGAAGAAGACTAGATCC 0.318000 33 6 0 0 0.002445 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27820188 27820188 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:27820188C>T ENST00000318304.8 + 13 1415 c.1132C>T c.(1132-1134)Cca>Tca p.P378S PPFIBP1_ENST00000228425.6_Missense_Mutation_p.P361S|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.P225S|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.P347S NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 378 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) GGAGAAAAGTCCATCACCCAC 0.428000 39 28 0 0 0.006230 0 0 R3HDM4 91300 broad.mit.edu 37 19 899633 899633 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:899633G>A ENST00000361574.5 - 6 688 c.615C>T c.(613-615)ccC>ccT p.P205P R3HDM4_ENST00000587975.1_Silent_p.P184P NM_138774.3 NP_620129.2 Q96D70 CS022_HUMAN R3H domain containing 4 205 R3H. nucleus nucleic acid binding ACACGGCCTGGGGGGACACGG 0.692000 6 13 0 0 0.001168 0 0 ACKR3 57007 broad.mit.edu 37 2 237489121 237489121 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:237489121C>T ENST00000272928.3 + 2 323 c.13C>T c.(13-15)Ctc>Ttc p.L5F NM_020311.2 NP_064707.1 atypical chemokine receptor 3 GGATCTGCATCTCTTCGACTA 0.488000 20 15 0 0 0.001523 0 0 GIPR 2696 broad.mit.edu 37 19 46176156 46176156 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:46176156G>A ENST00000590918.1 + 5 427 c.328G>A c.(328-330)Gga>Aga p.G110R GIPR_ENST00000304207.8_Missense_Mutation_p.G74R|GIPR_ENST00000263281.3_Missense_Mutation_p.G110R NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 110 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) TGGCCAATGGGGACTTTGGAG 0.502000 16 52 0 0 0.007413 0 0 RNF220 55182 broad.mit.edu 37 1 45101295 45101295 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:45101295C>T ENST00000443020.2 + 6 503 c.311C>T c.(310-312)tCg>tTg p.S104L TMEM53_ENST00000372243.3_3'UTR|TMEM53_ENST00000372244.3_3'UTR|RNF220_ENST00000372247.2_Intron|RNF220_ENST00000361799.2_Intron|RNF220_ENST00000355387.2_Intron|TMEM53_ENST00000372242.3_3'UTR Q5VTB9 RN220_HUMAN ring finger protein 220 331 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 CTGGCAGGATCGGAGCAGGAG 0.577000 17 25 0 0 0.001216 0 0 MORC1 27136 broad.mit.edu 37 3 108724056 108724056 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:108724056A>G ENST00000232603.5 - 19 1956 c.1874T>C c.(1873-1875)aTa>aCa p.I625T MORC1_ENST00000483760.1_Missense_Mutation_p.I604T NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 625 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGTCTCTTCTATGTTTCTTTT 0.388000 14 43 0 0 0.002450 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382115 41382115 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:41382115C>T ENST00000377801.3 - 2 699 c.625G>A c.(625-627)Ggg>Agg p.G209R PLCXD3_ENST00000328457.3_Missense_Mutation_p.G209R Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 209 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 ATCATCTGCCCAGGCCAGAGA 0.512000 17 37 0 0 0.004990 0 0 TTLL4 9654 broad.mit.edu 37 2 219617591 219617591 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:219617591C>T ENST00000392102.1 + 17 3422 c.3082C>T c.(3082-3084)Cct>Tct p.P1028S TTLL4_ENST00000258398.4_Missense_Mutation_p.P1028S|TTLL4_ENST00000442769.1_Missense_Mutation_p.P964S|TTLL4_ENST00000457313.1_Missense_Mutation_p.P863S NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1028 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) ACGAATTTTTCCTTCTCATAT 0.453000 39 74 0 0 0.001951 0 0 CSTF1 1477 broad.mit.edu 37 20 54974321 54974321 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:54974321C>T ENST00000217109.4 + 5 1296 c.944C>T c.(943-945)tCc>tTc p.S315F CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 315 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) GCCATTTTTTCCAAAAATTCT 0.403000 19 66 0 0 0.007413 0 0 PKP4 8502 broad.mit.edu 37 2 159530253 159530253 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:159530253C>T ENST00000389757.3 + 18 3114 c.2989C>T c.(2989-2991)Ctc>Ttc p.L997F AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.L997F NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 997 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 ATATCGGGACCTCCGGAGCAT 0.398000 HNSCC(62;0.18) 15 18 0 0 0.003163 0 0 RBKS 64080 broad.mit.edu 37 2 28004589 28004589 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:28004589C>T ENST00000302188.3 - 8 1614 c.862G>A c.(862-864)Gaa>Aaa p.E288K AC110084.1_ENST00000601759.1_Intron NM_022128.1 NP_071411.1 Q9H477 RBSK_HUMAN ribokinase 288 D-ribose metabolic process ATP binding|ribokinase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(172;0.155) AGCATGTCTTCCAAGGACAGA 0.458000 35 33 0 0 0.006999 0 0 TMEM225 338661 broad.mit.edu 37 11 123755324 123755324 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:123755324C>T ENST00000375026.2 - 2 417 c.201G>A c.(199-201)agG>agA p.R67R NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 67 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 TCATCATAATCCTGACCACTT 0.408000 8 7 0 0 0.000673 0 0 AGAP3 116988 broad.mit.edu 37 7 150835375 150835375 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:150835375C>T ENST00000397238.2 + 12 1641 c.1641C>T c.(1639-1641)tcC>tcT p.S547S AGAP3_ENST00000463381.1_Intron NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 511 PH. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 CCACCACTTCCCTGCCCCCAG 0.682000 34 4 0 0 0.007835 0 0 ZNF888 388559 broad.mit.edu 37 19 53418540 53418540 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:53418540G>A ENST00000596623.1 - 0 459 zinc finger protein 888 CCTCCTGAGAGAATTCTATGG 0.438000 32 160 0 0 0.002522 0 0 HELB 92797 broad.mit.edu 37 12 66709072 66709072 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:66709072C>T ENST00000247815.4 + 6 1968 c.1909C>T c.(1909-1911)Ctt>Ttt p.L637F NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 637 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) GCTGAAAGATCTTTTTGAGAC 0.353000 23 259 0 0 0.003954 0 0 SEMA4A 64218 broad.mit.edu 37 1 156142688 156142688 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:156142688G>A ENST00000368285.3 + 11 1473 c.1206G>A c.(1204-1206)gtG>gtA p.V402V SEMA4A_ENST00000368284.1_Silent_p.V270V|SEMA4A_ENST00000368282.1_Silent_p.V402V|SEMA4A_ENST00000355014.2_Silent_p.V402V|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Silent_p.V270V NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 402 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) ATGAGCAAGTGGTGGGGACGC 0.572000 59 60 0 0 0.003610 0 0 PDIA2 64714 broad.mit.edu 37 16 333322 333322 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:333322C>T ENST00000219406.6 + 1 171 c.153C>T c.(151-153)acC>acT p.T51T PDIA2_ENST00000404312.1_Silent_p.T51T NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 51 Thioredoxin 1. apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GCCGCCACACCCTGGGCCTGG 0.697000 7 22 0 0 0.004482 0 0 COL4A6 1288 broad.mit.edu 37 X 107415711 107415711 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:107415711G>A ENST00000394872.2 - 32 3424 c.3193C>T c.(3193-3195)Cca>Tca p.P1065S COL4A6_ENST00000545689.1_Missense_Mutation_p.P1064S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1064S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1064S|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1065S Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1065 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TTCAGGCCTGGGAGACCAGAT 0.458000 Alport syndrome with Diffuse Leiomyomatosis 48 66 0 0 0.003610 0 0 ATG2B 55102 broad.mit.edu 37 14 96790332 96790332 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:96790332G>A ENST00000359933.4 - 16 3334 c.2441C>T c.(2440-2442)tCg>tTg p.S814L NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 814 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TTCCTGGAACGATCCTAAAAA 0.398000 16 6 0 0 0.004990 0 0 CARD14 79092 broad.mit.edu 37 17 78162266 78162266 + Missense_Mutation SNP G G A rs144570537 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:78162266G>A ENST00000573882.1 + 7 1302 c.766G>A c.(766-768)Gac>Aac p.D256N CARD14_ENST00000344227.2_Missense_Mutation_p.D256N|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.D19N|CARD14_ENST00000570421.1_Missense_Mutation_p.D256N Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 256 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GACAGCCAGCGACCAGGAGTC 0.592000 19 37 0 0 0.001882 0 0 DROSHA 29102 broad.mit.edu 37 5 31526376 31526376 + Missense_Mutation SNP G G C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:31526376G>C ENST00000511367.2 - 4 908 c.664C>G c.(664-666)Cca>Gca p.P222A DROSHA_ENST00000442743.1_Missense_Mutation_p.P222A|DROSHA_ENST00000513349.1_Missense_Mutation_p.P222A|DROSHA_ENST00000344624.3_Missense_Mutation_p.P222A NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 222 Arg-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 AGCCTTTCTGGGGACCTTCTC 0.567000 9 46 0 0 0.006214 0 0 MYOM3 127294 broad.mit.edu 37 1 24387573 24387573 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:24387573C>T ENST00000330966.7 - 35 4143 c.e35-1 RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Splice_Site|MYOM3_ENST00000374434.3_Splice_Site Q5VTT5 MYOM3_HUMAN myomesin 3 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGCCAAGGTTCTGAAAAACAG 0.488000 11 24 0 0 0.002450 0 0 TSPAN13 27075 broad.mit.edu 37 7 16823074 16823074 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:16823074G>A ENST00000262067.4 + 6 1006 c.573G>A c.(571-573)agG>agA p.R191R NM_014399.3 NP_055214.1 O95857 TSN13_HUMAN tetraspanin 13 191 integral to plasma membrane|membrane fraction autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 7 Lung NSC(10;0.0494)|all_lung(11;0.109) UCEC - Uterine corpus endometrioid carcinoma (126;0.188) ACAGATACAGGAACCAGAAAG 0.358000 71 202 0 0 0.003610 0 0 PDE5A 8654 broad.mit.edu 37 4 120419785 120419785 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:120419785C>T ENST00000354960.3 - 21 2918 c.2599G>A c.(2599-2601)Ggg>Agg p.G867R PDE5A_ENST00000394439.1_Missense_Mutation_p.G815R|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.G825R NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 867 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) CCGCTTTCCCCATTAATCAGC 0.493000 21 39 0 0 0.002780 0 0 STAB2 55576 broad.mit.edu 37 12 104077010 104077010 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:104077010C>T ENST00000388887.2 + 26 3037 c.2833C>T c.(2833-2835)Cga>Tga p.R945* NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 945 EGF-like 9. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GAAAGGATTTCGAGGAAATGG 0.383000 31 6 0 0 0.004289 0 0 SEC14L4 284904 broad.mit.edu 37 22 30891336 30891336 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:30891336C>T ENST00000392772.2 - 5 443 c.166G>A c.(166-168)Ggt>Agt p.G56S SEC14L4_ENST00000540456.1_Missense_Mutation_p.G95S|SEC14L4_ENST00000381982.3_Missense_Mutation_p.G110S|SEC14L4_ENST00000255858.7_Missense_Mutation_p.G110S Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 110 integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) AGCAGGAGACCCTTGGGGTCG 0.542000 51 5 0 0 0.003610 0 0 LAMA5 3911 broad.mit.edu 37 20 60886054 60886054 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:60886054G>A ENST00000252999.3 - 74 10251 c.10185C>T c.(10183-10185)ttC>ttT p.F3395F NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3395 Laminin G-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATTGCTCAGGAAGAGCGCCA 0.697000 6 45 0 0 0.001984 0 0 MYLK2 85366 broad.mit.edu 37 20 30419644 30419644 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:30419644C>T ENST00000375994.2 + 10 1836 c.1563C>T c.(1561-1563)atC>atT p.I521I MYLK2_ENST00000375985.4_Silent_p.I521I|MYLK2_ENST00000468730.1_3'UTR Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 521 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCAACCTCATCGTCAAGGACC 0.532000 41 24 0 0 0.001951 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6042423 6042423 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:6042423C>T ENST00000409021.3 - 18 2567 c.2118G>A c.(2116-2118)aaG>aaA p.K706K JAKMIP1_ENST00000409371.3_Silent_p.K521K NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 477 protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCAGGTAGCCCTTCTGCCTGC 0.557000 6 11 0 0 0.003080 0 0 JMJD4 65094 broad.mit.edu 37 1 227923013 227923013 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:227923013C>T ENST00000366758.3 - 1 99 c.100G>A c.(100-102)Gaa>Aaa p.E34K JMJD4_ENST00000438896.2_Missense_Mutation_p.E34K|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR NM_023007.2 NP_075383.2 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 34 p.E34K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) CTCCTCACTTCCGCCGGAGCG 0.711000 13 7 0 0 0.001855 0 0 SLC25A48 153328 broad.mit.edu 37 5 135207319 135207319 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:135207319C>T ENST00000274513.5 + 5 763 c.591C>T c.(589-591)atC>atT p.I197I SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Silent_p.I143I|SLC25A48_ENST00000420621.1_Silent_p.I197I|SLC25A48_ENST00000412661.2_Intron Q6ZT89 S2548_HUMAN solute carrier family 25, member 48 197 transmembrane transport integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 TCTACTTCATCCCCTACGTGT 0.627000 37 16 0 0 0.007835 0 0 INMT 11185 broad.mit.edu 37 7 30795310 30795310 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:30795310C>T ENST00000013222.5 + 3 651 c.635C>T c.(634-636)tCc>tTc p.S212F INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.S211F|INMT_ENST00000484180.1_3'UTR NM_001199219.1|NM_006774.4 NP_001186148.1|NP_006765.4 O95050 INMT_HUMAN indolethylamine N-methyltransferase 212 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CGTGAATTTTCCTGCGTGGCC 0.597000 22 53 0 0 0.002780 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146930 70146930 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:70146930G>A ENST00000335568.5 + 1 714 c.712G>A c.(712-714)Gaa>Aaa p.E238K UGT2B28_ENST00000511240.1_Missense_Mutation_p.E238K NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 238 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GTTTTACAGTGAAGTTTTAGG 0.343000 21 43 0 0 0.003330 0 0 VWF 7450 broad.mit.edu 37 12 6174349 6174349 + Missense_Mutation SNP C C T rs137950753 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:6174349C>T ENST00000261405.5 - 11 1501 c.1247G>A c.(1246-1248)cGg>cAg p.R416Q NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 416 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTGGCAATCCCGGGCCAGCAG 0.562000 12 9 0 0 0.001855 0 0 BAZ1A 11177 broad.mit.edu 37 14 35253105 35253105 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:35253105G>A ENST00000360310.1 - 15 2427 c.1860C>T c.(1858-1860)ctC>ctT p.L620L BAZ1A_ENST00000358716.4_Silent_p.L588L|BAZ1A_ENST00000382422.2_Silent_p.L620L NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 620 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) GCTTTCCACAGAGAGCATGGA 0.343000 18 41 0 0 0.006122 0 0 COL15A1 1306 broad.mit.edu 37 9 101748166 101748166 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:101748166G>A ENST00000375001.3 + 3 843 c.420G>A c.(418-420)gaG>gaA p.E140E NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 140 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) ACTACACGGAGCCAGGCTCCC 0.602000 19 50 0 0 0.001216 0 0 THSD7A 221981 broad.mit.edu 37 7 11676536 11676536 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:11676536C>T ENST00000423059.3 - 2 494 c.243G>A c.(241-243)acG>acA p.T81T THSD7A_ENST00000480061.1_5'UTR NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 81 TSP type-1 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACACAGCCCTCGTTTGGATGC 0.458000 HNSCC(18;0.044) 48 120 0 0 0.003610 0 0 CR1 1378 broad.mit.edu 37 1 207679396 207679396 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:207679396C>T ENST00000367049.4 + 2 269 c.269C>T c.(268-270)tCa>tTa p.S90L CR1_ENST00000400960.2_Missense_Mutation_p.S90L|CR1_ENST00000367052.1_Missense_Mutation_p.S90L|CR1_ENST00000367053.1_Missense_Mutation_p.S90L|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Missense_Mutation_p.S90L NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 90 Sushi 1. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.S95L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTAAAAAACTCAGTCTGGACT 0.438000 112 52 0 0 0.003610 0 0 SUPT6H 6830 broad.mit.edu 37 17 27026845 27026845 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:27026845C>T ENST00000314616.6 + 33 4778 c.4495C>T c.(4495-4497)Cag>Tag p.Q1499* SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Q1499* NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1499 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GTACCGGGGCCAGATCTTCCC 0.493000 24 140 0 0 0.003954 0 0 TRPC5 7224 broad.mit.edu 37 X 111097282 111097282 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:111097282C>T ENST00000262839.2 - 4 1871 c.953G>A c.(952-954)gGc>gAc p.G318D NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 318 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TCCAGGGAAGCCATCATACCA 0.498000 16 4 0 0 0.004007 0 0 ZNF517 340385 broad.mit.edu 37 8 146033412 146033412 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:146033412C>T ENST00000359971.3 + 5 1218 c.1111C>T c.(1111-1113)Ccg>Tcg p.P371S ZNF517_ENST00000531720.1_Missense_Mutation_p.P371S|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron NM_213605.2 NP_998770.2 Q6ZMY9 ZN517_HUMAN zinc finger protein 517 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) CCACGAGTGCCCGGTGTGCGG 0.746000 3 4 0 0 0.004672 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316651 39316651 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:39316651G>A ENST00000390661.3 - 1 332 c.293C>T c.(292-294)aCc>aTc p.T98I NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 98 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1). keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCAGGTGGTCCTACAGCA 0.657000 16 40 0 0 0.006122 0 0 C10orf82 143379 broad.mit.edu 37 10 118424405 118424405 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:118424405C>T ENST00000369210.3 - 4 382 c.328G>A c.(328-330)Ggc>Agc p.G110S C10orf82_ENST00000588184.1_Missense_Mutation_p.G110S NM_144661.2 NP_653262.1 Q8WW14 CJ082_HUMAN chromosome 10 open reading frame 82 110 endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all cancers(201;0.0143) GGCAGGTAGCCTGCCCAGCCA 0.488000 44 56 0 0 0.003610 0 0 PLCB2 5330 broad.mit.edu 37 15 40589094 40589094 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:40589094G>A ENST00000260402.3 - 14 1588 c.1339C>T c.(1339-1341)Ccc>Tcc p.P447S PLCB2_ENST00000456256.2_Missense_Mutation_p.P447S|PLCB2_ENST00000557821.1_Missense_Mutation_p.P447S NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 447 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CTGGGCAGGGGGACACCTGGT 0.552000 27 30 0 0 0.001786 0 0 PRDM16 63976 broad.mit.edu 37 1 3319459 3319459 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:3319459T>A ENST00000378398.3 + 7 866 c.784T>A c.(784-786)Tac>Aac p.Y262N PRDM16_ENST00000514189.1_Missense_Mutation_p.Y262N|PRDM16_ENST00000511072.1_Missense_Mutation_p.Y262N|PRDM16_ENST00000270722.5_Missense_Mutation_p.Y261N|PRDM16_ENST00000442529.2_Missense_Mutation_p.Y261N|PRDM16_ENST00000441472.2_Missense_Mutation_p.Y261N|PRDM16_ENST00000378391.2_Missense_Mutation_p.Y261N|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 261 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GGCTGCGCTCTACGAGGGCCT 0.637000 T EVI1 """MDS, AML""" 17 5 0 0 0.007413 0 0 OSBPL10 114884 broad.mit.edu 37 3 31712380 31712380 + Missense_Mutation SNP C C T rs145049164 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:31712380C>T ENST00000396556.2 - 9 1944 c.1822G>A c.(1822-1824)Gga>Aga p.G608R OSBPL10_ENST00000438237.2_Missense_Mutation_p.G544R NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 608 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) ACTTTTCCTCCGAGCTCCACC 0.557000 21 80 0 0 0.001882 0 0 AHSP 51327 broad.mit.edu 37 16 31539877 31539877 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:31539877G>A ENST00000302312.4 + 3 277 c.174G>A c.(172-174)ggG>ggA p.G58G AHSP_ENST00000569954.1_3'UTR NM_016633.2 NP_057717.1 Q9NZD4 AHSP_HUMAN alpha hemoglobin stabilizing protein 58 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding lung(2) 2 AGGTGACAGGGGAGCCCCAAG 0.532000 37 22 0 0 0.005524 0 0 CSMD3 114788 broad.mit.edu 37 8 113267556 113267556 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:113267556G>A ENST00000297405.5 - 62 10207 c.9963C>T c.(9961-9963)ttC>ttT p.F3321F CSMD3_ENST00000352409.3_Silent_p.F3251F|CSMD3_ENST00000455883.2_Silent_p.F3152F|CSMD3_ENST00000343508.3_Silent_p.F3281F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3321 Sushi 26. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCACTAATATGAAAGGAAAAT 0.408000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 29 0 0 0.001882 0 0 PARP8 79668 broad.mit.edu 37 5 50055551 50055551 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:50055551C>T ENST00000281631.5 + 4 417 c.259C>T c.(259-261)Cat>Tat p.H87Y PARP8_ENST00000511363.2_Intron|PARP8_ENST00000503750.2_Missense_Mutation_p.H87Y|PARP8_ENST00000505554.1_Missense_Mutation_p.H66Y|PARP8_ENST00000505697.2_Missense_Mutation_p.H87Y|PARP8_ENST00000514067.2_Missense_Mutation_p.H87Y|PARP8_ENST00000514342.2_5'UTR NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 87 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) AGTAATTTTTCATAGAATAGC 0.254000 13 46 0 0 0.004990 0 0 NCKAP5 344148 broad.mit.edu 37 2 133636465 133636465 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:133636465C>T ENST00000409261.1 - 9 977 c.604G>A c.(604-606)Gag>Aag p.E202K NCKAP5_ENST00000317721.6_Missense_Mutation_p.E202K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E202K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.E202K NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 202 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTTTCATTCTCCAAAGCCAAC 0.398000 16 58 0 0 0.007413 0 0 RSAD1 55316 broad.mit.edu 37 17 48559688 48559688 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:48559688C>T ENST00000258955.2 + 4 796 c.711C>T c.(709-711)ttC>ttT p.F237F NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 237 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CCGCACTCTTCGCCCAGGTGC 0.682000 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 86 0 0 0.004289 0 0 FAM98B 283742 broad.mit.edu 37 15 38773740 38773740 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:38773740C>T ENST00000491535.1 + 7 985 c.977C>T c.(976-978)tCt>tTt p.S326F FAM98B_ENST00000397609.2_Intron NM_001042429.1 NP_001035894.1 Q52LJ0 FA98B_HUMAN family with sequence similarity 98, member B 326 tRNA-splicing ligase complex protein binding p.S326F(1) endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209) GTCTATTTTTCTTTCATGTCC 0.333000 17 16 0 0 0.001882 0 0 SERINC4 619189 broad.mit.edu 37 15 44087899 44087899 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:44087899C>T ENST00000299969.6 - 8 1098 c.953G>A c.(952-954)tGg>tAg p.W318* SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000249714.3_Silent_p.V148V|SERINC4_ENST00000319327.6_Silent_p.V392V|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR A6NH21 SERC4_HUMAN serine incorporator 4 0 phospholipid biosynthetic process integral to membrane central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 6 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;7.81e-07) TGTCTGCCTCCACTGTTTCAG 0.463000 14 72 0 0 0.003163 0 0 LMAN1L 79748 broad.mit.edu 37 15 75114199 75114199 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:75114199C>T ENST00000309664.5 + 10 1228 c.1089C>T c.(1087-1089)tcC>tcT p.S363S LMAN1L_ENST00000379709.3_Silent_p.S351S|RP11-414J4.2_ENST00000564823.1_RNA NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 363 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGATTCCATCCACCCCAGGGA 0.612000 46 60 0 0 0.003610 0 0 FRG1B 284802 broad.mit.edu 37 20 29623237 29623237 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:29623237G>A ENST00000278882.3 + 3 429 c.49G>A c.(49-51)Gag>Aag p.E17K FRG1B_ENST00000439954.2_Missense_Mutation_p.G18E|FRG1B_ENST00000358464.4_Missense_Mutation_p.E17K endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTACCCTGGGAGCTCCACAC 0.413000 23 647 0 0 0.002780 0 0 NBEA 26960 broad.mit.edu 37 13 36167498 36167498 + Translation_Start_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:36167498G>A ENST00000379922.3 + 0 356 NBEA_ENST00000540320.1_Missense_Mutation_p.D2404N|NBEA_ENST00000400445.3_Missense_Mutation_p.D2404N|NBEA_ENST00000379939.2_Missense_Mutation_p.D2401N|NBEA_ENST00000310336.4_Missense_Mutation_p.D2404N|NBEA_ENST00000537702.1_Missense_Mutation_p.D197N Q8NFP9 NBEA_HUMAN neurobeachin cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding p.D2404Y(1) NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CAATGCAAATGATGGAAAATT 0.398000 24 33 0 0 0.004656 0 0 EPRS 2058 broad.mit.edu 37 1 220192380 220192380 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:220192380C>T ENST00000366923.3 - 11 1660 c.1391G>A c.(1390-1392)aGa>aAa p.R464K NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 464 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TGTCATCCCTCTTCTCAGTAC 0.393000 19 76 0 0 0.002299 0 0 RAPGEFL1 51195 broad.mit.edu 37 17 38349645 38349645 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:38349645C>T ENST00000436615.3 + 14 1712 c.1222C>T c.(1222-1224)Cgc>Tgc p.R408C RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.R408C|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.R463C|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.R457C NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 614 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 GAGGACAATCCGCAAATACCG 0.552000 31 104 0 0 0.002445 0 0 COL25A1 84570 broad.mit.edu 37 4 110223081 110223081 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:110223081G>A ENST00000399132.1 - 2 625 c.95C>T c.(94-96)cCc>cTc p.P32L COL25A1_ENST00000399127.1_Missense_Mutation_p.P32L|COL25A1_ENST00000399126.1_Missense_Mutation_p.P32L NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 32 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GGCACACGGGGGCATGGTCCG 0.667000 18 5 0 0 0.006122 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136405855 136405855 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:136405855G>A ENST00000393061.3 + 6 1307 c.875G>A c.(874-876)gGa>gAa p.G292E ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G183E|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.G183E Q86TH1 ATL2_HUMAN ADAMTS-like 2 183 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) TGCGTGTCTGGAAAATGTGAG 0.647000 18 30 0 0 0.001216 0 0 SACS 26278 broad.mit.edu 37 13 23928006 23928006 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:23928006G>A ENST00000382298.3 - 9 2691 c.2103C>T c.(2101-2103)ttC>ttT p.F701F SACS_ENST00000476776.1_5'UTR|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.F701F NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 701 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CAAGACTTGGGAAAAGGGACC 0.368000 19 28 0 0 0.002299 0 0 SLC22A2 6582 broad.mit.edu 37 6 160671648 160671648 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:160671648C>T ENST00000366952.1 - 5 2023 c.542G>A c.(541-543)tGg>tAg p.W181* SLC22A2_ENST00000366953.3_Nonsense_Mutation_p.W202*|SLC22A2_ENST00000491092.1_5'UTR O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 202 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) AATTAACATCCACGTATAGGT 0.458000 42 15 0 0 0.002522 0 0 LRRC32 2615 broad.mit.edu 37 11 76371921 76371921 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:76371921G>A ENST00000407242.2 - 3 958 c.716C>T c.(715-717)cCc>cTc p.P239L LRRC32_ENST00000260061.5_Missense_Mutation_p.P239L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.P239L|AP001189.4_ENST00000447519.1_RNA NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 239 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CTCAGCCTGGGGCTGGGAGGC 0.607000 27 24 0 0 0.007291 0 0 FAT2 2196 broad.mit.edu 37 5 150901330 150901330 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:150901330G>A ENST00000261800.5 - 18 10836 c.10824C>T c.(10822-10824)acC>acT p.T3608T NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3608 Cadherin 32. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCGTGGTGAAGGTCCCATCGC 0.632000 10 30 0 0 0.000673 0 0 CACNA1B 774 broad.mit.edu 37 9 140809148 140809148 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:140809148C>T ENST00000371372.1 + 5 810 c.665C>T c.(664-666)cCa>cTa p.P222L CACNA1B_ENST00000371355.4_Missense_Mutation_p.P222L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.P222L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.P222L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P222L NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 222 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCCATGGTTCCACTCCTGCAG 0.547000 6 21 0 0 0.001984 0 0 WDR47 22911 broad.mit.edu 37 1 109554153 109554153 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:109554153A>G ENST00000357672.3 - 4 806 c.431T>C c.(430-432)gTt>gCt p.V144A WDR47_ENST00000400794.3_Missense_Mutation_p.V179A|WDR47_ENST00000369962.3_Missense_Mutation_p.V172A|WDR47_ENST00000369965.4_Missense_Mutation_p.V172A|WDR47_ENST00000361054.3_Missense_Mutation_p.V144A O94967 WDR47_HUMAN WD repeat domain 47 172 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) GAATTCTGCAACCATGACACA 0.438000 148 265 0 0 0.003610 0 0 XDH 7498 broad.mit.edu 37 2 31572598 31572598 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:31572598T>C ENST00000379416.3 - 26 2971 c.2923A>G c.(2923-2925)Agc>Ggc p.S975G NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 975 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TACTGAGAGCTTGCTAGGCAT 0.483000 35 79 0 0 0.004878 0 0 VIT 5212 broad.mit.edu 37 2 36986174 36986174 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:36986174C>T ENST00000379242.3 + 6 774 c.472C>T c.(472-474)Cca>Tca p.P158S VIT_ENST00000389975.3_Missense_Mutation_p.P158S|VIT_ENST00000404084.1_Missense_Mutation_p.P136S|VIT_ENST00000379241.3_Missense_Mutation_p.P158S|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Missense_Mutation_p.P158S|VIT_ENST00000457137.2_Missense_Mutation_p.P158S NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 158 proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) ATCGAAAAGTCCAGCTGCCCA 0.408000 25 80 0 0 0.005443 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102548767 102548767 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:102548767G>A ENST00000334701.7 - 11 2417 c.2136C>T c.(2134-2136)aaC>aaT p.N712N HSP90AA1_ENST00000216281.8_Silent_p.N590N NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 590 Required for homodimerization. axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TCACCAATCGGTTTGACACAA 0.388000 21 3 0 0 0.001882 0 0 TAF1L 138474 broad.mit.edu 37 9 32634978 32634978 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:32634978C>T ENST00000242310.4 - 1 689 c.600G>A c.(598-600)gtG>gtA p.V200V RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 200 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TACTGAAATCCACTTTCTCTG 0.473000 26 28 0 0 0.006320 0 0 MXRA5 25878 broad.mit.edu 37 X 3229399 3229399 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:3229399C>T ENST00000217939.6 - 7 6999 c.6845G>A c.(6844-6846)gGg>gAg p.G2282E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2282 Ig-like C2-type 7. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CACCAGACTCCCGTCTGGGAG 0.567000 28 27 0 0 0.005443 0 0 TTI2 80185 broad.mit.edu 37 8 33367348 33367348 + Silent SNP G G A rs138257989 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:33367348G>A ENST00000431156.2 - 3 1368 c.750C>T c.(748-750)ccC>ccT p.P250P TTI2_ENST00000520636.1_Silent_p.P250P|TTI2_ENST00000360742.5_Silent_p.P250P NM_001102401.2 NP_001095871.1 Q6NXR4 CH041_HUMAN TELO2 interacting protein 2 250 binding CCAATGATGCGGGAAGTACCC 0.478000 20 8 0 0 0.001523 0 0 RAD51C 5889 broad.mit.edu 37 17 56774133 56774133 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:56774133G>A ENST00000337432.4 + 3 555 c.484G>A c.(484-486)Gga>Aga p.G162R RAD51C_ENST00000583539.1_Missense_Mutation_p.G162R|RAD51C_ENST00000487921.1_3'UTR NM_058216.1 NP_478123.1 O43502 RA51C_HUMAN RAD51 paralog C 162 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGATACAGAGGGAAGTTTTAT 0.423000 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 18 63 0 0 0.001216 0 0 NYNRIN 57523 broad.mit.edu 37 14 24886130 24886130 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:24886130C>T ENST00000382554.3 + 9 5493 c.5175C>T c.(5173-5175)gcC>gcT p.A1725A NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1725 Integrase catalytic. DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TCAAGAGGGCCCTCAAGGAGT 0.642000 10 14 0 0 0.000978 0 0 SNHG14 104472715 broad.mit.edu 37 15 25417836 25417836 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:25417836C>T ENST00000549301.1 + 0 503 SNHG14_ENST00000553149.1_RNA|SNORD115-2_ENST00000362842.1_RNA ACTTAAAAATCATGCTCAATA 0.527000 57 165 0 0 0.003610 0 0 LCT 3938 broad.mit.edu 37 2 136567394 136567394 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:136567394G>A ENST00000264162.2 - 8 2533 c.2523C>T c.(2521-2523)atC>atT p.I841I NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 841 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TCTTTTCTATGATGCTAGTGA 0.493000 55 131 0 0 0.003610 0 0 NAALAD2 10003 broad.mit.edu 37 11 89924813 89924813 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:89924813T>C ENST00000375944.3 + 7 905 c.884T>C c.(883-885)aTa>aCa p.I295T NAALAD2_ENST00000534061.1_Silent_p.N707N|NAALAD2_ENST00000321955.4_Silent_p.N674N Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 665 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ATATTGAAAATAAAGCCAACT 0.358000 45 27 0 0 0.002852 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834716 125834716 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:125834716G>A ENST00000299308.3 + 2 779 c.771G>A c.(769-771)gaG>gaA p.E257E NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 257 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CAGCCCGAGAGAGGATTGGGA 0.567000 59 13 0 0 0.003610 0 0 ARSA 410 broad.mit.edu 37 22 51063675 51063675 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:51063675G>A ENST00000547307.1 - 8 1827 c.1422C>T c.(1420-1422)ccC>ccT p.P474P ARSA_ENST00000547805.1_Silent_p.P474P|ARSA_ENST00000395619.3_Silent_p.P476P|ARSA_ENST00000356098.5_Silent_p.P476P|ARSA_ENST00000216124.5_Silent_p.P476P|ARSA_ENST00000453344.2_Silent_p.P390P|ARSA_ENST00000395621.3_Silent_p.P476P P15289 ARSA_HUMAN arylsulfatase A 474 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) CCACCTGGCTGGGGCCGAAGG 0.682000 33 18 0 0 0.002445 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42169682 42169682 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:42169682C>T ENST00000373135.3 + 19 2365 c.2233C>T c.(2233-2235)Ctg>Ttg p.L745L L3MBTL1_ENST00000427442.2_Silent_p.L813L|L3MBTL1_ENST00000418998.1_Silent_p.L813L|L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000444063.1_3'UTR NM_015478.6 NP_056293.4 Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 0 SAM. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 AAAAGGCATCCTGGAGACAGG 0.473000 23 93 0 0 0.003330 0 0 PCNXL3 399909 broad.mit.edu 37 11 65385893 65385893 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:65385893C>T ENST00000355703.3 + 6 1599 c.1060C>T c.(1060-1062)Ccc>Tcc p.P354S NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 354 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CGCCGGGGTCCCCTCAGATGA 0.692000 3 9 0 0 0.004672 0 0 SLC16A12 387700 broad.mit.edu 37 10 91222195 91222195 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:91222195C>T ENST00000341233.4 - 3 441 c.51G>A c.(49-51)tgG>tgA p.W17* RP11-168O10.6_ENST00000454270.1_RNA|SLC16A12_ENST00000371790.4_Nonsense_Mutation_p.W47* NM_213606.3 NP_998771.3 Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 17 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 TCATCCAGCCCCAGCCTCCAT 0.463000 16 80 0 0 0.006122 0 0 RPL10L 140801 broad.mit.edu 37 14 47120507 47120507 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:47120507C>T ENST00000298283.3 - 1 521 c.433G>A c.(433-435)Gag>Aag p.E145K NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 145 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome p.E145K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 ACATGCTCCTCGTTCTGAAGC 0.527000 20 32 0 0 0.002780 0 0 ARPC1A 10552 broad.mit.edu 37 7 98983391 98983391 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:98983391G>A ENST00000432884.2 + 12 1461 c.1000G>A c.(1000-1002)Gga>Aga p.G334R ARPC1B_ENST00000451682.1_Silent_p.K18K|ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Silent_p.K18K Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa 0 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) CCTGGAACAAGGACCGCACCC 0.647000 29 2 0 0 0.002096 0 0 COL18A1 80781 broad.mit.edu 37 21 46888697 46888697 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:46888697C>T ENST00000359759.4 + 2 1914 c.1893C>T c.(1891-1893)ttC>ttT p.F631F COL18A1_ENST00000400337.2_Silent_p.F216F|COL18A1_ENST00000355480.5_Silent_p.F396F P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 631 TSP N-terminal. cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CTGACAAGTTCCAGGTAACCC 0.697000 5 5 0 0 0.001168 0 0 RGS11 8786 broad.mit.edu 37 16 321272 321272 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:321272G>A ENST00000397770.3 - 12 809 c.792C>T c.(790-792)ctC>ctT p.L264L RGS11_ENST00000316163.5_Silent_p.L243L|RGS11_ENST00000359740.5_Silent_p.L253L|ARHGDIG_ENST00000464609.1_Intron O94810 RGS11_HUMAN regulator of G-protein signaling 11 264 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) ACCCCGACACGAGGGGATCGT 0.667000 7 20 0 0 0.004482 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143380 61143380 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:61143380C>T ENST00000475015.1 - 0 958 C20orf166-AS1_ENST00000412495.1_RNA GGTGTCTGCCCCGTCGGCTGA 0.647000 7 31 0 0 0.003080 0 0 GUCY2C 2984 broad.mit.edu 37 12 14804439 14804439 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:14804439G>A ENST00000261170.3 - 15 1748 c.1612C>T c.(1612-1614)Cag>Tag p.Q538* NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 538 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TAGTCAATCTGAAGCAACTAG 0.398000 10 27 0 0 0.000978 0 0 TAF1L 138474 broad.mit.edu 37 9 32634945 32634945 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:32634945C>T ENST00000242310.4 - 1 722 c.633G>A c.(631-633)gaG>gaA p.E211E RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 211 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GAGGTCCCATCTCAGATTCTG 0.483000 23 45 0 0 0.003954 0 0 KIF27 55582 broad.mit.edu 37 9 86504034 86504034 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:86504034A>C ENST00000297814.2 - 7 2087 c.1944T>G c.(1942-1944)gaT>gaG p.D648E KIF27_ENST00000334204.2_Missense_Mutation_p.D648E|KIF27_ENST00000413982.1_Missense_Mutation_p.D648E|KIF27_ENST00000376347.1_Missense_Mutation_p.D39E NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 648 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 CTGATTCTTCATCATCACTGT 0.343000 27 43 0 0 0.007291 0 0 CDK8 1024 broad.mit.edu 37 13 26975749 26975749 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:26975749C>T ENST00000381527.3 + 12 1760 c.1257C>T c.(1255-1257)acC>acT p.T419T CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) TTATCATGACCTCAGACTATC 0.428000 17 39 0 0 0.001523 0 0 OR4K17 390436 broad.mit.edu 37 14 20585856 20585856 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:20585856C>T ENST00000315543.4 + 1 291 c.291C>T c.(289-291)ctC>ctT p.L97L NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TTGGTAATCTCTCTTTTGTAG 0.388000 112 146 0 0 0.003610 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956242 18956242 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:18956242G>A ENST00000302797.3 - 1 314 c.90C>T c.(88-90)ctC>ctT p.L30L MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 30 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TCAGCACCGTGAGGCTCAAGG 0.552000 74 24 0 0 0.003610 0 0 ERCC6 2074 broad.mit.edu 37 10 50682238 50682238 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:50682238G>A ENST00000355832.5 - 13 2511 c.2433C>T c.(2431-2433)ctC>ctT p.L811L ERCC6_ENST00000542458.1_Silent_p.L181L NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 811 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CTCCAGAAAAGAGATCAGGGT 0.408000 Direct reversal of damage;Nucleotide excision repair (NER) 13 56 0 0 0.004990 0 0 RGS3 5998 broad.mit.edu 37 9 116269610 116269610 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:116269610C>T ENST00000374140.2 + 14 1338 c.1129C>T c.(1129-1131)Ccc>Tcc p.P377S RGS3_ENST00000394646.3_Missense_Mutation_p.P96S|RGS3_ENST00000374136.1_Missense_Mutation_p.P3S|RGS3_ENST00000350696.5_Missense_Mutation_p.P377S|RGS3_ENST00000317613.6_Missense_Mutation_p.P265S|RGS3_ENST00000343817.5_Missense_Mutation_p.P96S NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 377 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GCGCATGGTCCCCCAGGTCAA 0.617000 9 26 0 0 0.006214 0 0 RUNX2 860 broad.mit.edu 37 6 45296521 45296521 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:45296521G>A ENST00000371438.1 + 1 416 c.58_splice c.e1+1 p.D20_splice RUNX2_ENST00000541979.1_Splice_Site_p.D88_splice|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000371460.1_Intron|RUNX2_ENST00000576263.1_Splice_Site_p.D20_splice|RUNX2_ENST00000352853.5_Splice_Site_p.D88_splice|RUNX2_ENST00000465038.2_Splice_Site_p.D20_splice|RUNX2_ENST00000483243.1_3'UTR|SUPT3H_ENST00000459689.1_Intron|RUNX2_ENST00000371436.6_Splice_Site_p.D20_splice NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 20 negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CTTCTTTTGGGGTAAGTGTTA 0.358000 39 22 0 0 0.002852 0 0 OR13G1 441933 broad.mit.edu 37 1 247835746 247835746 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:247835746C>T ENST00000359688.2 - 1 619 c.598G>A c.(598-600)Gat>Aat p.D200N RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGGGTAATATCAGCAACATAC 0.458000 19 72 0 0 0.001882 0 0 ACTN2 88 broad.mit.edu 37 1 236925806 236925806 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:236925806C>T ENST00000366578.4 + 21 2738 c.2572C>T c.(2572-2574)Cag>Tag p.Q858* ACTN2_ENST00000546208.1_Nonsense_Mutation_p.Q352*|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Q858* NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 858 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GCCCCCGGATCAGGCCCAGTA 0.577000 23 20 0 0 0.003954 0 0 ACSBG1 23205 broad.mit.edu 37 15 78486327 78486327 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:78486327G>A ENST00000258873.4 - 4 694 c.489C>T c.(487-489)ctC>ctT p.L163L ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 163 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 AGTTGAAGCCGAGGATGGCCA 0.662000 12 45 0 0 0.001855 0 0 CANT1 124583 broad.mit.edu 37 17 76993104 76993104 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:76993104G>A ENST00000302345.2 - 2 1095 c.601C>T c.(601-603)Ctg>Ttg p.L201L CANT1_ENST00000591773.1_Silent_p.L201L|CANT1_ENST00000392446.5_Silent_p.L201L NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 201 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CCGTCGGACAGAATCACCCAG 0.587000 T ETV4 prostate 63 207 0 0 0.003610 0 0 MYH7 4625 broad.mit.edu 37 14 23893175 23893175 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:23893175C>T ENST00000355349.3 - 23 3025 c.2863G>A c.(2863-2865)Gat>Aat p.D955N NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 955 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCCAGATCATCGATGTCCCTT 0.542000 6 139 0 0 0.001168 0 0 DNAH3 55567 broad.mit.edu 37 16 20959876 20959876 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:20959876C>T ENST00000261383.3 - 57 11271 c.11272G>A c.(11272-11274)Gaa>Aaa p.E3758K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3758 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCCTCAATTTCCTTACAGTAG 0.532000 22 34 0 0 0.002780 0 0 FIP1L1 81608 broad.mit.edu 37 4 54294293 54294293 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:54294293C>T ENST00000337488.6 + 13 1311 c.1117C>T c.(1117-1119)Cca>Tca p.P373S FIP1L1_ENST00000306932.6_Missense_Mutation_p.P299S|FIP1L1_ENST00000507922.1_Missense_Mutation_p.P358S|FIP1L1_ENST00000358575.5_Missense_Mutation_p.P358S|FIP1L1_ENST00000507166.1_Intron NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 373 Pro-rich. mRNA processing nucleus RNA binding p.P373T(1) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) tccacctcctccatttcttcc 0.463000 T PDGFRA idiopathic hypereosinophilic syndrome 18 12 0 0 0.007413 0 0 FFAR3 2865 broad.mit.edu 37 19 35849881 35849881 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:35849881C>T ENST00000327809.4 + 2 290 c.89C>T c.(88-90)cCc>cTc p.P30L FFAR3_ENST00000594310.1_Missense_Mutation_p.P30L NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 30 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) GTGGGGCTCCCCCTCAACCTG 0.647000 37 49 0 0 0.003610 0 0 GRHL1 29841 broad.mit.edu 37 2 10105480 10105480 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:10105480C>T ENST00000324907.9 + 8 1216 c.1080C>T c.(1078-1080)tcC>tcT p.S360S GRHL1_ENST00000405379.2_Silent_p.S360S|GRHL1_ENST00000324883.5_Silent_p.S171S NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 360 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) ACGCCATTTCCTTCACATGGG 0.438000 23 55 0 0 0.003954 0 0 RFTN2 130132 broad.mit.edu 37 2 198436869 198436869 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:198436869C>T ENST00000295049.3 - 9 1905 c.1369G>A c.(1369-1371)Gaa>Aaa p.E457K NM_144629.2 NP_653230.2 Q52LD8 RFTN2_HUMAN raftlin family member 2 457 plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3) 30 GTCCAGCATTCCCGGGAGGGA 0.547000 19 36 0 0 0.001216 0 0 MAP4K4 9448 broad.mit.edu 37 2 102480344 102480344 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:102480344C>T ENST00000324219.4 + 17 2002 c.1928C>T c.(1927-1929)tCc>tTc p.S643F MAP4K4_ENST00000425019.1_Intron|MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S538F|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000347699.4_Intron|MAP4K4_ENST00000456652.1_Intron O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 577 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CGATCCCATTCCTTCAGTGAC 0.493000 167 152 0 0 0.003610 0 0 ST3GAL2 6483 broad.mit.edu 37 16 70422341 70422341 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:70422341G>A ENST00000393640.4 - 3 2749 c.642C>T c.(640-642)ttC>ttT p.F214F RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.F214F Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 2 214 amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 11 Ovarian(137;0.0694) GCACCAGCACGAAGCTGACGT 0.592000 76 73 0 0 0.003610 0 0 XIRP2 129446 broad.mit.edu 37 2 168099701 168099701 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:168099701C>T ENST00000409195.1 + 9 1888 c.1799C>T c.(1798-1800)tCc>tTc p.S600F XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S378F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S600F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 425 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGTGATATTTCCAGGGGCATT 0.433000 10 20 0 0 0.001368 0 0 PCSK5 5125 broad.mit.edu 37 9 78638706 78638706 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:78638706C>T ENST00000545128.1 + 4 1002 c.464C>T c.(463-465)gCc>gTc p.A155V PCSK5_ENST00000376767.3_Missense_Mutation_p.A155V|PCSK5_ENST00000376752.4_Missense_Mutation_p.A155V NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 155 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ATCGAAGGAGCCTGGAAGAGA 0.453000 21 31 0 0 0.003954 0 0 LY75 4065 broad.mit.edu 37 2 160732004 160732004 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:160732004G>A ENST00000263636.4 - 12 1952 c.1925C>T c.(1924-1926)cCc>cTc p.P642L LY75_ENST00000554112.1_Missense_Mutation_p.P642L|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P642L|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P642L|LY75_ENST00000553424.1_Missense_Mutation_p.P642L NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TTCAGGACAGGGGTCATCAGG 0.458000 32 52 0 0 0.003755 0 0 FBXO40 51725 broad.mit.edu 37 3 121341031 121341031 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:121341031C>T ENST00000338040.4 + 3 1169 c.755C>T c.(754-756)tCc>tTc p.S252F NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 252 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GAACAGATTTCCAGTGGCCAT 0.458000 8 23 0 0 0.003080 0 0 SYNE1 23345 broad.mit.edu 37 6 152461226 152461226 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:152461226G>A ENST00000367255.5 - 140 25918 c.25317C>T c.(25315-25317)ctC>ctT p.L8439L SYNE1_ENST00000539504.1_Silent_p.L594L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.L8051L|SYNE1_ENST00000356820.4_Silent_p.L2963L|SYNE1_ENST00000354674.4_Silent_p.L617L|SYNE1_ENST00000265368.4_Silent_p.L8439L|SYNE1_ENST00000448038.1_Silent_p.L8391L|SYNE1_ENST00000423061.1_Silent_p.L8391L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8439 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCCACTTCTGGAGGTTCTGCT 0.547000 HNSCC(10;0.0054) 22 43 0 0 0.002299 0 0 PLEC 5339 broad.mit.edu 37 8 144992838 144992838 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:144992838G>A ENST00000322810.4 - 32 11731 c.11562C>T c.(11560-11562)gcC>gcT p.A3854A PLEC_ENST00000354589.3_Silent_p.A3717A|PLEC_ENST00000345136.3_Silent_p.A3717A|PLEC_ENST00000527096.1_Silent_p.A3740A|PLEC_ENST00000398774.2_Silent_p.A3685A|PLEC_ENST00000354958.2_Silent_p.A3695A|PLEC_ENST00000436759.2_Silent_p.A3744A|PLEC_ENST00000356346.3_Silent_p.A3703A|PLEC_ENST00000357649.2_Silent_p.A3721A NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3854 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGGCCACCTCGGCACTCAGCA 0.652000 50 30 0 0 0.003610 0 0 ENAM 10117 broad.mit.edu 37 4 71508720 71508720 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:71508720G>A ENST00000396073.3 + 9 1858 c.1577G>A c.(1576-1578)aGg>aAg p.R526K ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 526 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GGGTCAAGAAGGATGCCATAT 0.418000 34 30 0 0 0.002445 0 0 ODF3L1 161753 broad.mit.edu 37 15 76019596 76019596 + Silent SNP C C T rs114593678 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:76019596C>T ENST00000332145.2 + 4 763 c.540C>T c.(538-540)taC>taT p.Y180Y NM_175881.3 NP_787077.1 Q8IXM7 OD3L1_HUMAN outer dense fiber of sperm tails 3-like 1 180 kidney(1)|lung(1) 2 CTCCCTGCTACAGTCTGGCCT 0.602000 35 41 0 0 0.002445 0 0 IGSF1 3547 broad.mit.edu 37 X 130412483 130412483 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:130412483C>T ENST00000370904.1 - 18 2876 c.1966G>A c.(1966-1968)Gag>Aag p.E656K IGSF1_ENST00000370903.3_Missense_Mutation_p.E670K|IGSF1_ENST00000361420.3_Missense_Mutation_p.E665K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E656K Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 665 Ig-like C2-type 6. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 ACAGCCATCTCCTCCCATGAA 0.637000 46 56 0 0 0.003610 0 0 ZNF474 133923 broad.mit.edu 37 5 121488171 121488171 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:121488171G>A ENST00000296600.4 + 2 869 c.486G>A c.(484-486)caG>caA p.Q162Q ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 162 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) AGAGTGCCCAGGCTCAGCTGC 0.547000 16 35 0 0 0.001523 0 0 UGT1A5 54579 broad.mit.edu 37 2 234621899 234621899 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:234621899G>A ENST00000373414.3 + 1 262 c.262G>A c.(262-264)Gaa>Aaa p.E88K UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) GACCCAGGACGAATTTGATCG 0.428000 22 34 0 0 0.003330 0 0 CENPF 1063 broad.mit.edu 37 1 214794131 214794131 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:214794131C>T ENST00000366955.3 + 6 875 c.707C>T c.(706-708)cCa>cTa p.P236L NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 236 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CAAAGAACTCCAATTAGGAGA 0.438000 82 90 0 0 0.003610 0 0 TRAK1 22906 broad.mit.edu 37 3 42264742 42264742 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:42264742C>T ENST00000327628.5 + 16 2775 c.2375C>T c.(2374-2376)tCc>tTc p.S792F TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.S734F NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 792 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 ACACCCACATCCTCCCCACCC 0.607000 18 13 0 0 0.007413 0 0 GSDMA 284110 broad.mit.edu 37 17 38122606 38122606 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:38122606G>A ENST00000301659.4 + 3 426 c.308G>A c.(307-309)gGa>gAa p.G103E NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 103 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 AAGGTGAAGGGAACGGCAGGG 0.577000 53 62 0 0 0.003610 0 0 SLC22A9 114571 broad.mit.edu 37 11 63175680 63175680 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:63175680C>T ENST00000279178.3 + 8 1634 c.1385C>T c.(1384-1386)cCc>cTc p.P462L SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 462 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 GAAGTAATTCCCACCATAATC 0.458000 7 43 0 0 0.004482 0 0 MME 4311 broad.mit.edu 37 3 154886309 154886309 + Silent SNP C C T rs148809350 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:154886309C>T ENST00000460393.1 + 19 1929 c.1809C>T c.(1807-1809)ctC>ctT p.L603L MME_ENST00000492661.1_Silent_p.L603L|MME_ENST00000493237.1_Silent_p.L603L|MME_ENST00000462745.1_Silent_p.L603L|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Silent_p.L603L NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 603 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) ATGGAGACCTCGTTGACTGGT 0.378000 16 15 0 0 0.004007 0 0 LRRK1 79705 broad.mit.edu 37 15 101593217 101593217 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:101593217C>T ENST00000284395.5 + 26 4171 c.3771C>T c.(3769-3771)gcC>gcT p.A1257A LRRK1_ENST00000388948.3_Silent_p.A1260A|RP11-505E24.2_ENST00000559857.1_RNA Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1260 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCTACCGGGCCCGGTACCAGG 0.617000 18 38 0 0 0.001523 0 0 TMEM132A 54972 broad.mit.edu 37 11 60704361 60704361 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:60704361G>A ENST00000005286.4 + 11 3210 c.3057G>A c.(3055-3057)agG>agA p.R1019R TMEM132A_ENST00000453848.2_Silent_p.R1018R NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 1018 Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 ACATGGAGAGGATCCGGGGCA 0.652000 20 8 0 0 0.001523 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306454 2306454 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:2306454G>A ENST00000290974.2 - 8 1952 c.1613C>T c.(1612-1614)tCg>tTg p.S538L ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S468L|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S508L|RP11-478C1.7_ENST00000510632.1_RNA NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 538 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CACGGGCTCCGAGGCGGCCTC 0.672000 8 21 0 0 0.003080 0 0 FAM186B 84070 broad.mit.edu 37 12 49994666 49994666 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:49994666C>T ENST00000544141.1 - 4 1086 c.487G>A c.(487-489)Gag>Aag p.E163K FAM186B_ENST00000257894.2_Missense_Mutation_p.E253K|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 253 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTCCTGTTCTCCTTGTGTTGG 0.562000 13 77 0 0 0.002450 0 0 CASR 846 broad.mit.edu 37 3 121973151 121973151 + Missense_Mutation SNP C C T rs121909262 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:121973151C>T ENST00000498619.1 + 2 553 c.115C>T c.(115-117)Cct>Tct p.P39S CASR_ENST00000296154.5_Missense_Mutation_p.P39S|CASR_ENST00000490131.1_Missense_Mutation_p.P39S NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 39 P -> A (in FHH). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GGGGCTCTTTCCTATTCATTT 0.527000 25 58 0 0 0.006320 0 0 COL21A1 81578 broad.mit.edu 37 6 56044778 56044778 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:56044778G>A ENST00000244728.5 - 3 635 c.238C>T c.(238-240)Caa>Taa p.Q80* COL21A1_ENST00000370819.1_Nonsense_Mutation_p.Q80*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.Q80* NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 80 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCACTATATTGAACCACTCCA 0.413000 30 5 0 0 0.002096 0 0 KRT78 196374 broad.mit.edu 37 12 53242410 53242410 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:53242410G>A ENST00000304620.4 - 1 368 c.305C>T c.(304-306)cCc>cTc p.P102L NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 102 Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CTGGAACTGGGGATCGATCTC 0.572000 32 19 0 0 0.002836 0 0 PREX2 80243 broad.mit.edu 37 8 68950441 68950441 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:68950441C>T ENST00000288368.4 + 7 1030 c.753C>T c.(751-753)gtC>gtT p.V251V PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 251 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TGTGTGGAGTCTTACTGAAAA 0.383000 18 24 0 0 0.007413 0 0 COL4A4 1286 broad.mit.edu 37 2 227920826 227920826 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:227920826G>A ENST00000396625.3 - 30 2758 c.2551C>T c.(2551-2553)Cca>Tca p.P851S COL4A4_ENST00000329662.7_Missense_Mutation_p.P851S NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 851 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTCCCACCTGGAGCACCTAAG 0.567000 10 20 0 0 0.001368 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5186172 5186172 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:5186172C>T ENST00000274181.7 + 5 909 c.771C>T c.(769-771)ccC>ccT p.P257P ADAMTS16_ENST00000511368.1_Silent_p.P257P NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 257 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TAGACATGCCCCAGCCTCCCA 0.468000 43 234 0 0 0.003610 0 0 CASD1 64921 broad.mit.edu 37 7 94174937 94174937 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:94174937C>A ENST00000297273.4 + 12 1844 c.1557C>A c.(1555-1557)ccC>ccA p.P519P NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 519 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) ACTTTGTCCCCTTGGTCACTG 0.333000 6 116 0.00116845 0.00187356 0.001168 1 0 ZNF569 148266 broad.mit.edu 37 19 37904471 37904471 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:37904471G>A ENST00000316950.6 - 6 1646 c.1089C>T c.(1087-1089)ttC>ttT p.F363F ZNF569_ENST00000392149.2_Silent_p.F363F|ZNF569_ENST00000392150.2_Silent_p.F204F NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAAACTGAGAGAAGGCTTTAC 0.383000 21 59 0 0 0.002780 0 0 XIST 7503 broad.mit.edu 37 X 73050944 73050944 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:73050944G>A ENST00000429829.1 - 0 11738 NR_001564.2 CTTCCTATCTGGGACCAGGAA 0.453000 19 1 0 0 0.001523 0 0 C17orf75 64149 broad.mit.edu 37 17 30658842 30658842 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:30658842G>A ENST00000577809.1 - 10 1180 c.1131C>T c.(1129-1131)gcC>gcT p.A377A C17orf75_ENST00000225805.4_Silent_p.A377A|RP11-227G15.3_ENST00000581915.1_RNA NM_022344.3 NP_071739.2 Q9HAS0 NJMU_HUMAN chromosome 17 open reading frame 75 377 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TCACATTTTTGGCTTCAGGCA 0.313000 15 57 0 0 0.004007 0 0 PMP22 5376 broad.mit.edu 37 17 15134136 15134136 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:15134136G>A ENST00000494511.1 - 3 568 c.402C>T c.(400-402)tcC>tcT p.S134S PMP22_ENST00000312280.3_3'UTR|PMP22_ENST00000395938.2_3'UTR|PMP22_ENST00000395936.1_3'UTR Q01453 PMP22_HUMAN peripheral myelin protein 22 0 peripheral nervous system development|synaptic transmission integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06) TTTGAGTTTGGGATTTTGGGC 0.443000 7 17 0 0 0.001984 0 0 PRX 57716 broad.mit.edu 37 19 40902667 40902667 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:40902667G>A ENST00000324001.7 - 7 1862 c.1592C>T c.(1591-1593)cCa>cTa p.P531L PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 531 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGGCACCTTTGGGAGTTTCAT 0.562000 86 76 0 0 0.003610 0 0 CXCR2 3579 broad.mit.edu 37 2 219000455 219000455 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:219000455C>T ENST00000318507.2 + 3 1358 c.931C>T c.(931-933)Ccc>Tcc p.P311S NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 311 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 CTGCCTCAACCCCCTCATCTA 0.562000 12 40 0 0 0.000978 0 0 RRP1B 23076 broad.mit.edu 37 21 45107874 45107874 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45107874C>T ENST00000340648.4 + 13 1736 c.1619C>T c.(1618-1620)cCg>cTg p.P540L NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 540 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) CTGTCCACGCCGGCCTGGCCT 0.647000 9 39 0 0 0.006214 0 0 WIPI1 55062 broad.mit.edu 37 17 66431803 66431803 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:66431803G>A ENST00000262139.5 - 6 578 c.579C>T c.(577-579)acC>acT p.T193T WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.T111T NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 193 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 AGGCATTGAAGGTGATGGCAG 0.517000 OREG0024688 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 83 0 0 0.007291 0 0 KCTD7 154881 broad.mit.edu 37 7 66104087 66104087 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:66104087C>T ENST00000275532.3 + 4 922 c.738C>T c.(736-738)caC>caT p.H246H KCTD7_ENST00000443322.1_Silent_p.H246H NM_001167961.2|NM_153033.4 NP_001161433.1|NP_694578.1 Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 246 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 ACCTGCTGCACTGCCTGGTCA 0.592000 97 48 0 0 0.003610 0 0 NR4A3 8013 broad.mit.edu 37 9 102609826 102609826 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:102609826C>T ENST00000330847.1 + 6 1639 c.1595C>T c.(1594-1596)tCc>tTc p.S532F NR4A3_ENST00000395097.2_Missense_Mutation_p.S521F Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 521 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) AAAGACTTTTCCTTAAATTTG 0.478000 T EWSR1 extraskeletal myxoid chondrosarcoma 26 35 0 0 0.004656 0 0 LGALS3BP 3959 broad.mit.edu 37 17 76972097 76972097 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:76972097A>C ENST00000262776.3 - 3 502 c.194T>G c.(193-195)cTg>cGg p.L65R LGALS3BP_ENST00000591778.1_Missense_Mutation_p.L65R|LGALS3BP_ENST00000585407.1_Missense_Mutation_p.L65R NM_005567.3 NP_005558.1 Q08380 LG3BP_HUMAN lectin, galactoside-binding, soluble, 3 binding protein 65 SRCR. cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CTCGAAGCCCAGGGCCCGGCA 0.647000 15 16 0 0 0.004990 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86491674 86491674 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:86491674G>A ENST00000395184.1 + 2 446 c.e2-1 ARHGAP24_ENST00000506421.1_Splice_Site|ARHGAP24_ENST00000503995.1_Splice_Site NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) TTGCTAACTAGGAAAGTCCAT 0.438000 4 8 0 0 0.000248 0 0 CD163L1 283316 broad.mit.edu 37 12 7531734 7531734 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:7531734G>A ENST00000313599.3 - 9 2268 c.2211C>T c.(2209-2211)atC>atT p.I737I CD163L1_ENST00000416109.2_Silent_p.I747I|CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000396630.1_Silent_p.I737I Q9NR16 C163B_HUMAN CD163 molecule-like 1 737 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TGGAGACCCTGATTGCAGACC 0.483000 8 69 0 0 0.003080 0 0 COX10-AS1 100874058 broad.mit.edu 37 17 13927893 13927893 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:13927893C>T ENST00000602743.1 - 0 224 GGAGTGAGAGCCTTTTCTGAC 0.562000 6 17 0 0 0.001855 0 0 OR5M11 219487 broad.mit.edu 37 11 56310114 56310114 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:56310114G>A ENST00000528616.2 - 1 643 c.620C>T c.(619-621)tCc>tTc p.S207F NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 GAGGGAGCTGGAGAGGTTGAA 0.498000 8 30 0 0 0.003080 0 0 MYOCD 93649 broad.mit.edu 37 17 12656151 12656151 + Missense_Mutation SNP G G A rs146033223 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:12656151G>A ENST00000425538.1 + 10 1746 c.1546G>A c.(1546-1548)Gag>Aag p.E516K MYOCD_ENST00000395988.1_Missense_Mutation_p.E420K|MYOCD_ENST00000343344.4_Missense_Mutation_p.E516K NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 516 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCTGGACTCCGAGAAGGACAA 0.582000 14 14 0 0 0.002450 0 0 PRKAG3 53632 broad.mit.edu 37 2 219695493 219695493 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:219695493C>T ENST00000439262.2 - 3 225 c.130G>A c.(130-132)Ggg>Agg p.G44R PRKAG3_ENST00000392098.3_Missense_Mutation_p.G69R|PRKAG3_ENST00000529249.1_Missense_Mutation_p.G69R|PRKAG3_ENST00000545803.1_5'UTR NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 69 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTGGCTCCCCTTCCTCCACC 0.612000 26 42 0 0 0.005443 0 0 PCLO 27445 broad.mit.edu 37 7 82582368 82582368 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:82582368G>A ENST00000423517.2 - 5 8238 c.7901C>T c.(7900-7902)tCt>tTt p.S2634F PCLO_ENST00000333891.8_Missense_Mutation_p.S2634F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2565 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTGTTCTGAAGAAATTGGAAT 0.453000 137 11 0 0 0.003610 0 0 KCNG4 93107 broad.mit.edu 37 16 84270909 84270909 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:84270909G>A ENST00000568181.1 - 2 303 c.183C>T c.(181-183)atC>atT p.I61I KCNG4_ENST00000308251.4_Silent_p.I61I Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 61 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 CGTTGATCAGGATCTCCTTCT 0.642000 22 18 0 0 0.002299 0 0 COL20A1 57642 broad.mit.edu 37 20 61941816 61941816 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:61941816C>T ENST00000422202.1 + 10 1436 c.1368C>T c.(1366-1368)atC>atT p.I456I COL20A1_ENST00000435874.1_Silent_p.I456I|COL20A1_ENST00000326996.6_Silent_p.I449I|COL20A1_ENST00000358894.6_Silent_p.I449I Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 449 Fibronectin type-III 2. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TGTTCCCCATCTATGAGGGCG 0.687000 8 10 0 0 0.004482 0 0 ATG2A 23130 broad.mit.edu 37 11 64673043 64673043 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:64673043G>A ENST00000421419.2 - 24 3570 c.3456C>T c.(3454-3456)ttC>ttT p.F1152F ATG2A_ENST00000377264.3_Silent_p.F1152F Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1152 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 ACCTGAGCAGGAAGGTGGAGG 0.622000 7 7 0 0 0.003080 0 0 KCNG1 3755 broad.mit.edu 37 20 49620632 49620632 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:49620632G>A ENST00000371571.4 - 3 1771 c.1486C>T c.(1486-1488)Cag>Tag p.Q496* RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 496 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 TCACTGTCCTGGGACACGCTC 0.597000 20 46 0 0 0.002299 0 0 LRRC20 55222 broad.mit.edu 37 10 72136260 72136260 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:72136260G>A ENST00000355790.4 - 2 507 c.30C>T c.(28-30)gcC>gcT p.A10A LRRC20_ENST00000395010.1_Silent_p.A10A|LRRC20_ENST00000373224.1_Silent_p.A10A|LRRC20_ENST00000395011.1_Silent_p.A10A|LRRC20_ENST00000358141.2_Silent_p.A10A NM_001278212.1|NM_001278214.1|NM_207119.1 NP_001265141.1|NP_001265143.1|NP_997002.1 Q8TCA0 LRC20_HUMAN leucine rich repeat containing 20 10 endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1) 9 TTGCTACTCTGGCCACGGCCT 0.602000 42 80 0 0 0.003610 0 0 CHAT 1103 broad.mit.edu 37 10 50870760 50870760 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:50870760G>A ENST00000395562.2 + 15 2132 c.1663G>A c.(1663-1665)Gag>Aag p.E555K CHAT_ENST00000351556.3_Missense_Mutation_p.E519K|CHAT_ENST00000455728.2_Missense_Mutation_p.E519K|CHAT_ENST00000339797.1_Missense_Mutation_p.E519K|CHAT_ENST00000395559.2_Missense_Mutation_p.E519K|CHAT_ENST00000337653.2_Missense_Mutation_p.E637K NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 637 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CATGTGCAAGGAGCTGCCCGA 0.577000 21 64 0 0 0.002299 0 0 GSAP 54103 broad.mit.edu 37 7 76943801 76943801 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:76943801G>A ENST00000257626.7 - 27 2173 c.2095C>T c.(2095-2097)Cat>Tat p.H699Y GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Missense_Mutation_p.H20Y NM_017439.3 NP_059135.2 gamma-secretase activating protein TGCAGAGTATGAAAACCTAGG 0.483000 103 9 0 0 0.003610 0 0 TNS4 84951 broad.mit.edu 37 17 38652456 38652456 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:38652456G>A ENST00000254051.6 - 2 380 c.222C>T c.(220-222)gcC>gcT p.A74A NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 74 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) AGGTGGCTTTGGCCTCCACCT 0.642000 14 39 0 0 0.003163 0 0 CEBPE 1053 broad.mit.edu 37 14 23588291 23588291 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:23588291C>T ENST00000206513.5 - 1 534 c.10G>A c.(10-12)Ggg>Agg p.G4R NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 4 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) TAGTAGGTCCCGTGGGACATG 0.701000 5 7 0 0 0.000602 0 0 EXOC4 60412 broad.mit.edu 37 7 133041132 133041132 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:133041132C>T ENST00000253861.4 + 6 841 c.812C>T c.(811-813)cCa>cTa p.P271L EXOC4_ENST00000539845.1_Missense_Mutation_p.P170L|EXOC4_ENST00000393161.2_Missense_Mutation_p.P271L NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 271 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GAATTGGATCCAGAGGAAAAC 0.403000 13 73 0 0 0.002450 0 0 NR5A2 2494 broad.mit.edu 37 1 200090020 200090020 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:200090020C>T ENST00000367362.3 + 7 1561 c.1315C>T c.(1315-1317)Cgt>Tgt p.R439C NR5A2_ENST00000544748.1_Missense_Mutation_p.R367C|NR5A2_ENST00000236914.3_Missense_Mutation_p.R393C NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 439 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) GGCAAAACTTCGTTCTCTCCA 0.438000 11 66 0 0 0.000673 0 0 BOK 666 broad.mit.edu 37 2 242509595 242509595 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:242509595G>A ENST00000318407.3 + 4 707 c.405G>A c.(403-405)gtG>gtA p.V135V NM_032515.4 NP_115904.1 Q9UMX3 BOK_HUMAN BCL2-related ovarian killer 135 activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis mitochondrial membrane|nucleus large_intestine(1)|lung(3)|ovary(1) 5 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835) GGCTGGCCGTGGACTGTGTGA 0.667000 3 6 0 0 0.004672 0 0 RNFT2 84900 broad.mit.edu 37 12 117217001 117217001 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:117217001C>T ENST00000257575.4 + 7 963 c.728_splice c.e7-1 p.L244_splice RNFT2_ENST00000407967.3_Splice_Site_p.L244_splice|RNFT2_ENST00000392549.2_Splice_Site_p.L244_splice|RNFT2_ENST00000319176.7_Intron Q96EX2 RNFT2_HUMAN ring finger protein, transmembrane 2 244 integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) TCCCCCCAGCCTCATATTCCT 0.517000 94 19 0 0 0.003610 0 0 KDM3B 51780 broad.mit.edu 37 5 137754678 137754678 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:137754678G>A ENST00000314358.5 + 14 3672 c.3472G>A c.(3472-3474)Gaa>Aaa p.E1158K KDM3B_ENST00000394866.1_Missense_Mutation_p.E814K|KDM3B_ENST00000542866.1_Missense_Mutation_p.E190K|KDM3B_ENST00000508386.1_3'UTR NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1158 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TTCTGGAAACGAAACTACCTT 0.478000 78 42 0 0 0.003610 0 0 PI3 5266 broad.mit.edu 37 20 43804764 43804764 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:43804764C>T ENST00000243924.3 + 2 389 c.342C>T c.(340-342)ttC>ttT p.F114F NM_002638.3 NP_002629.1 P19957 ELAF_HUMAN peptidase inhibitor 3, skin-derived 114 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) TGGCCTGTTTCGTTCCCCAGT 0.567000 44 68 0 0 0.003610 0 0 TIAM1 7074 broad.mit.edu 37 21 32639059 32639059 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:32639059G>A ENST00000286827.3 - 5 701 c.230C>T c.(229-231)tCc>tTc p.S77F TIAM1_ENST00000541036.1_Missense_Mutation_p.S77F|TIAM1_ENST00000469412.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 77 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 ACCATCTTGGGAGAAGGGCTC 0.592000 15 22 0 0 0.002450 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98376447 98376447 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:98376447C>T ENST00000339364.5 - 13 2082 c.1963G>A c.(1963-1965)Gac>Aac p.D655N PIK3AP1_ENST00000371109.3_Missense_Mutation_p.D254N|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.D477N NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 655 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GTGATGCTGTCTCTTAGCCGT 0.413000 24 90 0 0 0.006320 0 0 SLC9A2 6549 broad.mit.edu 37 2 103322376 103322376 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:103322376G>A ENST00000233969.2 + 11 2191 c.2049G>A c.(2047-2049)agG>agA p.R683R NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 683 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TACAAAAGAGGAGGACTATTT 0.294000 12 33 0 0 0.001855 0 0 SULT1E1 6783 broad.mit.edu 37 4 70719950 70719950 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:70719950C>T ENST00000226444.3 - 4 466 c.354G>A c.(352-354)tgG>tgA p.W118* NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 118 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 AATCCTTTTCCCAAAATGAGG 0.343000 10 24 0 0 0.006214 0 0 PTPRT 11122 broad.mit.edu 37 20 41306689 41306689 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:41306689C>T ENST00000373198.3 - 7 1205 c.970G>A c.(970-972)Gaa>Aaa p.E324K PTPRT_ENST00000373190.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E324K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E324K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E324K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E324K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 324 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TATTCCACTTCCTTCAGGATG 0.567000 18 93 0 0 0.007413 0 0 TCF4 6925 broad.mit.edu 37 18 52921919 52921919 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:52921919C>T ENST00000354452.3 - 15 1770 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K TCF4_ENST00000540999.1_Missense_Mutation_p.E363K|TCF4_ENST00000561831.3_Missense_Mutation_p.E227K|TCF4_ENST00000570177.2_Missense_Mutation_p.E257K|TCF4_ENST00000356073.4_Missense_Mutation_p.E387K|TCF4_ENST00000398339.1_Missense_Mutation_p.E489K|TCF4_ENST00000564403.2_Missense_Mutation_p.E393K|TCF4_ENST00000567880.1_Missense_Mutation_p.E327K|TCF4_ENST00000537578.1_Missense_Mutation_p.E363K|TCF4_ENST00000566279.1_Missense_Mutation_p.E327K|TCF4_ENST00000570287.2_Missense_Mutation_p.E227K|TCF4_ENST00000457482.3_Missense_Mutation_p.E227K|TCF4_ENST00000564999.1_Missense_Mutation_p.E387K|TCF4_ENST00000565018.2_Missense_Mutation_p.E387K|TCF4_ENST00000544241.2_Missense_Mutation_p.E316K|TCF4_ENST00000543082.1_Missense_Mutation_p.E345K|TCF4_ENST00000564228.1_Missense_Mutation_p.E316K|TCF4_ENST00000568740.1_Missense_Mutation_p.E362K|TCF4_ENST00000561992.1_Missense_Mutation_p.E257K|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566286.1_Missense_Mutation_p.E384K|TCF4_ENST00000537856.3_Missense_Mutation_p.E257K|TCF4_ENST00000568673.1_Missense_Mutation_p.E363K NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 387 Leucine-zipper. positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) AAACGATCTTCAATTCGGCTT 0.408000 6 10 0 0 0.003080 0 0 ZNF320 162967 broad.mit.edu 37 19 53384916 53384916 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:53384916G>A ENST00000595635.1 - 8 964 c.463C>T c.(463-465)Cat>Tat p.H155Y ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.H155Y NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) TCTCCAGTATGAATTCTCCTA 0.363000 28 89 0 0 0.006320 0 0 CD7 924 broad.mit.edu 37 17 80274552 80274552 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:80274552G>A ENST00000584284.1 - 2 469 c.388C>T c.(388-390)Ctg>Ttg p.L130L CD7_ENST00000312648.3_Silent_p.L130L|CD7_ENST00000583376.1_Silent_p.L30L|CD7_ENST00000578509.1_Silent_p.L30L P09564 CD7_HUMAN CD7 molecule 130 Ig-like. immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) CCTGTCACCAGGACCAGGGTG 0.657000 47 66 0 0 0.003610 0 0 GAD2 2572 broad.mit.edu 37 10 26513537 26513537 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:26513537C>T ENST00000376261.3 + 6 1184 c.681C>T c.(679-681)atC>atT p.I227I GAD2_ENST00000376248.1_Silent_p.I113I|GAD2_ENST00000259271.3_Silent_p.I227I NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 227 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TGAGAGAAATCATTGGCTGGC 0.393000 17 37 0 0 0.004007 0 0 TRIM51 84767 broad.mit.edu 37 11 55653307 55653307 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:55653307G>A ENST00000449290.2 + 2 495 c.403G>A c.(403-405)Gaa>Aaa p.E135K NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 135 intracellular zinc ion binding GGCTGCTGAGGAACGCCGGGT 0.478000 20 16 0 0 0.002780 0 0 DNAJC5G 285126 broad.mit.edu 37 2 27500708 27500708 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:27500708G>A ENST00000296097.3 + 4 618 c.200G>A c.(199-201)gGg>gAg p.G67E DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.G51E|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.G67E NM_173650.1 NP_775921.1 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 gamma 67 J. protein folding membrane heat shock protein binding|unfolded protein binding cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGAATCCAGGGAATGCTCAA 0.502000 21 63 0 0 0.001523 0 0 DNAH8 1769 broad.mit.edu 37 6 38875791 38875791 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:38875791G>A ENST00000359357.3 + 62 9011 c.8757G>A c.(8755-8757)gtG>gtA p.V2919V DNAH8_ENST00000449981.2_Silent_p.V3136V|DNAH8_ENST00000441566.1_Silent_p.V2883V dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGATTTCAGTGATGAAGAGGG 0.393000 30 34 0 0 0.002096 0 0 OR13C8 138802 broad.mit.edu 37 9 107331863 107331863 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:107331863G>A ENST00000335040.1 + 1 415 c.415G>A c.(415-417)Ggt>Agt p.G139S NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CATGAGCAAGGGTGCCTATGT 0.547000 14 31 0 0 0.002450 0 0 LAMA1 284217 broad.mit.edu 37 18 6973112 6973112 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:6973112G>A ENST00000389658.3 - 47 6811 c.6718C>T c.(6718-6720)Ctg>Ttg p.L2240L NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2240 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTACATCCAGAACATTAGCT 0.383000 66 19 0 0 0.003610 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202911193 202911193 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:202911193C>T ENST00000340990.5 - 7 1257 c.959G>A c.(958-960)cGa>cAa p.R320Q ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R320Q NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 320 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) CTCAGGAATTCGAGCAGCATA 0.498000 26 102 0 0 0.005443 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801111 185801111 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:185801111C>T ENST00000302277.6 + 4 1582 c.988C>T c.(988-990)Cca>Tca p.P330S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 330 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AAATTCAGTCCCATTAGCAGA 0.323000 13 11 0 0 0.001855 0 0 HAAO 23498 broad.mit.edu 37 2 43015689 43015689 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:43015689G>A ENST00000294973.6 - 2 194 c.139C>T c.(139-141)Cac>Tac p.H47Y NM_012205.2 NP_036337.2 P46952 3HAO_HUMAN 3-hydroxyanthranilate 3,4-dioxygenase 47 Domain A (catalytic) (By similarity). neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process cytosol|soluble fraction 3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2) 11 TCTTCGATGTGATAGTCCTTC 0.587000 35 25 0 0 0.004878 0 0 IL12RB1 3594 broad.mit.edu 37 19 18180520 18180520 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:18180520G>A ENST00000600835.1 - 11 1328 c.1025C>T c.(1024-1026)cCa>cTa p.P342L IL12RB1_ENST00000593993.1_Missense_Mutation_p.P342L|IL12RB1_ENST00000430026.2_Missense_Mutation_p.P342L P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 342 Fibronectin type-III 4. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CAGAGCCACTGGTTCTGGAAG 0.587000 29 64 0 0 0.002096 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17053128 17053128 + Missense_Mutation SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:17053128C>G ENST00000262096.8 + 4 1063 c.368C>G c.(367-369)tCt>tGt p.S123C NM_016353.4 NP_057437.1 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 123 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) AGGACCATGTCTGGAGGTAAA 0.418000 10 32 0 0 0.000673 0 0 LRP1B 53353 broad.mit.edu 37 2 141274503 141274503 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:141274503C>T ENST00000389484.3 - 50 9075 c.8104G>A c.(8104-8106)Gat>Aat p.D2702N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2702 LDL-receptor class A 15. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.D2702N(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTCTGACCATCGCATATCCAG 0.328000 TSP Lung(27;0.18) 11 30 0 0 0.001368 0 0 OLFML2A 169611 broad.mit.edu 37 9 127561572 127561572 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:127561572G>A ENST00000373580.3 + 4 471 c.471G>A c.(469-471)aaG>aaA p.K157K NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 157 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 AGAGCATCAAGGCCAACCTGA 0.587000 20 21 0 0 0.003954 0 0 CHFR 55743 broad.mit.edu 37 12 133438112 133438112 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:133438112G>A ENST00000266880.7 - 7 791 c.728C>T c.(727-729)tCg>tTg p.S243L CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.S243L|CHFR_ENST00000450056.2_Missense_Mutation_p.S231L|CHFR_ENST00000443047.2_Missense_Mutation_p.S151L|CHFR_ENST00000315585.7_Missense_Mutation_p.S202L Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 243 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TTCCAACGACGAAAAGGACGC 0.537000 18 30 0 0 0.001523 0 0 USP6NL 9712 broad.mit.edu 37 10 11505008 11505008 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:11505008C>T ENST00000379237.1 - 15 2313 c.1919G>A c.(1918-1920)gGa>gAa p.G640E USP6NL_ENST00000277575.5_Missense_Mutation_p.G657E NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 640 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 GGGAGAGTTTCCGTGGTAAAC 0.552000 5 1 0 0 0.000602 0 0 PSAPL1 768239 broad.mit.edu 37 4 7436274 7436274 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:7436274C>T ENST00000319098.4 - 1 426 c.333G>A c.(331-333)gtG>gtA p.V111V SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron NM_001085382.1 NP_001078851.1 Q6NUJ1 SAPL1_HUMAN prosaposin-like 1 (gene/pseudogene) 111 Saposin B-type 1. sphingolipid metabolic process extracellular region|lysosome lung(4) 4 TGTGGGCATCCACCATCCACT 0.632000 7 7 0 0 0.003080 0 0 DROSHA 29102 broad.mit.edu 37 5 31526613 31526613 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:31526613G>A ENST00000511367.2 - 4 671 c.427C>T c.(427-429)Ccc>Tcc p.P143S DROSHA_ENST00000442743.1_Missense_Mutation_p.P143S|DROSHA_ENST00000513349.1_Missense_Mutation_p.P143S|DROSHA_ENST00000344624.3_Missense_Mutation_p.P143S NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 143 Pro-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 ATCATGAAGGGGAAAGTGCCT 0.587000 5 14 0 0 0.000602 0 0 OR51F1 256892 broad.mit.edu 37 11 4790304 4790304 + Missense_Mutation SNP A A T rs144710348 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:4790304A>T ENST00000380383.1 - 1 864 c.865T>A c.(865-867)Tac>Aac p.Y289N MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.Y282N A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 282 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) AAAAGCAGGTATACATTAGCC 0.473000 26 8 0 0 0.004656 0 0 ZBTB4 57659 broad.mit.edu 37 17 7365321 7365321 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7365321G>A ENST00000311403.4 - 4 3319 c.2980C>T c.(2980-2982)Ccc>Tcc p.P994S ZBTB4_ENST00000380599.4_Missense_Mutation_p.P994S NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 994 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CCCTTAGGGGGAATTGGTGGA 0.607000 5 67 0 0 0.001168 0 0 SLC6A18 348932 broad.mit.edu 37 5 1244835 1244835 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:1244835C>T ENST00000324642.3 + 11 1732 c.1609C>T c.(1609-1611)Ctc>Ttc p.L537F NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 537 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TTACATCATCCTCCTGTTCTG 0.612000 11 47 0 0 0.000978 0 0 UNC5D 137970 broad.mit.edu 37 8 35631824 35631824 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:35631824G>A ENST00000287272.2 + 15 2299 c.2279G>A c.(2278-2280)cGa>cAa p.R760Q UNC5D_ENST00000420357.1_Missense_Mutation_p.R762Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.R834Q|UNC5D_ENST00000404895.2_Missense_Mutation_p.R829Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.R824Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R405Q Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 829 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TAGAGTGAACGAGAAACCATC 0.423000 15 9 0 0 0.004990 0 0 FOXA2 3170 broad.mit.edu 37 20 22562714 22562714 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:22562714G>A ENST00000419308.2 - 2 1350 c.1148C>T c.(1147-1149)tCc>tTc p.S383F FOXA2_ENST00000319993.4_Missense_Mutation_p.S389F|FOXA2_ENST00000377115.4_Missense_Mutation_p.S383F NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 383 Transactivation domain 2 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) CTGCTCCGAGGACATGAGGTT 0.637000 25 10 0 0 0.002780 0 0 CPZ 8532 broad.mit.edu 37 4 8609090 8609090 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:8609090C>T ENST00000382480.2 + 7 1554 c.754C>T c.(754-756)Ccc>Tcc p.P252S CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000360986.4_Missense_Mutation_p.P389S|CPZ_ENST00000315782.6_Missense_Mutation_p.P378S NM_001014448.2 NP_001014448.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 389 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGTGTCCTACCCCTTCGACTT 0.602000 OREG0016100 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 14 0 0 0.004482 0 0 OR52R1 119695 broad.mit.edu 37 11 4824861 4824861 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:4824861G>A ENST00000380382.1 - 1 986 c.987C>T c.(985-987)gtC>gtT p.V329V OR52R1_ENST00000356069.2_Silent_p.V250V|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGCCAAGATGACACAGATAT 0.473000 43 16 0 0 0.002852 0 0 ACLY 47 broad.mit.edu 37 17 40042510 40042510 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:40042510G>A ENST00000352035.2 - 18 2057 c.1927C>T c.(1927-1929)Ctg>Ttg p.L643L ACLY_ENST00000393896.2_Silent_p.L633L|ACLY_ENST00000353196.1_Silent_p.L633L|ACLY_ENST00000590151.1_Silent_p.L643L|ACLY_ENST00000537919.1_Silent_p.L372L NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 643 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) ATGTTGTCCAGCATCCCACCT 0.547000 7 31 0 0 0.001984 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129222 248129222 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248129222C>T ENST00000366480.3 + 1 688 c.589C>T c.(589-591)Cca>Tca p.P197S OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CTGTGAAGTTCCAGCTCTACT 0.428000 13 56 0 0 0.003163 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6380203 6380203 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:6380203C>T ENST00000335585.5 - 3 288 c.265G>A c.(265-267)Gag>Aag p.E89K PPP2R2C_ENST00000507294.1_Missense_Mutation_p.E82K|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.E82K|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.E72K|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.E89K NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 89 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 ATCTTCTCCTCTATCTCCAGG 0.582000 21 41 0 0 0.001523 0 0 NLRP6 171389 broad.mit.edu 37 11 284554 284554 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:284554G>A ENST00000534750.1 + 7 2654 c.2449G>A c.(2449-2451)Gat>Aat p.D817N NLRP6_ENST00000312165.5_Missense_Mutation_p.D818N NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 818 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GACCACCCTGGATCTCAGCGG 0.677000 7 15 0 0 0.001984 0 0 SPPL2B 56928 broad.mit.edu 37 19 2345250 2345250 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:2345250G>A ENST00000452401.2 + 0 1353 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTCCCCCAGGGCTGCTGGT 0.677000 8 20 0 0 0.003080 0 0 CHD2 1106 broad.mit.edu 37 15 93557971 93557971 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:93557971C>T ENST00000394196.4 + 37 5806 c.4738C>T c.(4738-4740)Cgt>Tgt p.R1580C CHD2_ENST00000557381.1_Missense_Mutation_p.R1580C NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1580 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GAAACCATTTCGTCCAGAGGC 0.507000 34 75 0 0 0.005524 0 0 KIF13B 23303 broad.mit.edu 37 8 29025003 29025003 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:29025003G>A ENST00000524189.1 - 11 1083 c.1045C>T c.(1045-1047)Cga>Tga p.R349* KIF13B_ENST00000521515.1_Nonsense_Mutation_p.R349* NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 349 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TGCTTGGCTCGATCTGCATAC 0.537000 27 76 0 0 0.003954 0 0 HRG 3273 broad.mit.edu 37 3 186383882 186383882 + Missense_Mutation SNP C C T rs141595547 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:186383882C>T ENST00000232003.4 + 1 142 c.62C>T c.(61-63)cCc>cTc p.P21L HRG_ENST00000468154.1_3'UTR NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 21 Cystatin 1. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GCCGTGAGTCCCACTGACTGC 0.493000 24 44 0 0 0.003330 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524122 73524122 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:73524122C>T ENST00000339534.2 + 1 98 c.21C>T c.(19-21)ttC>ttT p.F7F NM_203303.2 NP_976048.1 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 7 nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 AGGATTTCTTCGCGTGTGGAC 0.627000 5 4 0 0 0.000602 0 0 AASDH 132949 broad.mit.edu 37 4 57204882 57204882 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:57204882C>T ENST00000451613.1 - 12 2733 c.2564G>A c.(2563-2565)tGg>tAg p.W855* AASDH_ENST00000513376.1_Missense_Mutation_p.G895S|AASDH_ENST00000602986.1_Nonsense_Mutation_p.W787*|AASDH_ENST00000205214.6_Missense_Mutation_p.G995S|AASDH_ENST00000434343.2_Missense_Mutation_p.G510S Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 0 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TCATGGGAACCAAAAAATATT 0.378000 17 18 0 0 0.004007 0 0 UGGT2 55757 broad.mit.edu 37 13 96506591 96506591 + Silent SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:96506591A>G ENST00000376747.3 - 35 4217 c.4147T>C c.(4147-4149)Tta>Cta p.L1383L NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1383 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TTCCGTCTTAAAAGATGTGAT 0.368000 25 40 0 0 0.006320 0 0 DIDO1 11083 broad.mit.edu 37 20 61512276 61512276 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:61512276C>T ENST00000266070.4 - 16 5357 c.5032G>A c.(5032-5034)Ggt>Agt p.G1678S DIDO1_ENST00000395343.1_Missense_Mutation_p.G1678S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1678 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCCCTCTCACCGTCGTGCTGC 0.672000 16 15 0 0 0.003163 0 0 TRPM6 140803 broad.mit.edu 37 9 77370337 77370337 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:77370337C>T ENST00000451710.3 - 28 5075 c.4838G>A c.(4837-4839)gGa>gAa p.G1613E TRPM6_ENST00000360774.1_Missense_Mutation_p.G1613E|TRPM6_ENST00000449912.2_Missense_Mutation_p.G1608E|TRPM6_ENST00000376864.4_Missense_Mutation_p.G1613E|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Missense_Mutation_p.G564E|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1608E Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1613 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GCTGTTTTCTCCTGGCTCTGG 0.418000 18 36 0 0 0.007413 0 0 NOP9 161424 broad.mit.edu 37 14 24774214 24774214 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:24774214C>T ENST00000267425.3 + 10 1917 c.1824C>T c.(1822-1824)acC>acT p.T608T NOP9_ENST00000396802.3_3'UTR NM_174913.1 NP_777573.1 NOP9 nucleolar protein CCTTGACTACCTTCCTAAAGC 0.552000 9 37 0 0 0.004482 0 0 CYP1A2 1544 broad.mit.edu 37 15 75044547 75044547 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:75044547C>T ENST00000343932.4 + 5 1188 c.1125C>T c.(1123-1125)acC>acT p.T375T NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 375 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) TCCTGGAGACCTTCCGACACT 0.597000 138 142 0 0 0.003610 0 0 TRMT10C 54931 broad.mit.edu 37 3 101284252 101284252 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:101284252G>A ENST00000309922.6 + 2 781 c.627G>A c.(625-627)atG>atA p.M209I NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) TTTTTGACATGGCTTACGAAA 0.393000 36 32 0 0 0.004289 0 0 TTN 7273 broad.mit.edu 37 2 179597596 179597596 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179597596C>T ENST00000589042.1 - 55 16531 c.16307G>A c.(16306-16308)gGa>gAa p.G5436E TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5119E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4192E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5119 Ig-like 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCTTTGCTTCCCACGGAATT 0.428000 8 17 0 0 0.003080 0 0 SNHG14 104472715 broad.mit.edu 37 15 25486721 25486721 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:25486721G>A ENST00000453082.2 + 0 2040 NR_003343.1 GAGACTGGAGGAAGACTTCCA 0.607000 8 4 0 0 0.003080 0 0 COL22A1 169044 broad.mit.edu 37 8 139616993 139616993 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:139616993C>T ENST00000303045.6 - 59 4570 c.4124G>A c.(4123-4125)gGa>gAa p.G1375E COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1355E NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1375 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCCTGGGACTCCTTTCTCTCC 0.507000 HNSCC(7;0.00092) 6 16 0 0 0.003080 0 0 HTR3E 285242 broad.mit.edu 37 3 183823756 183823756 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:183823756C>T ENST00000415389.2 + 7 1390 c.925_splice c.e7+1 p.I308_splice HTR3E_ENST00000335304.2_Splice_Site_p.I323_splice|HTR3E_ENST00000440596.2_Splice_Site_p.I334_splice|HTR3E_ENST00000436361.2_Splice_Site_p.I308_splice|HTR3E_ENST00000425359.2_Splice_Site_p.I293_splice NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 308 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CCCCCCTCATCGGTATGGCTC 0.547000 43 111 0 0 0.003610 0 0 SLTM 79811 broad.mit.edu 37 15 59180621 59180621 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:59180621G>A ENST00000380516.2 - 17 2425 c.2338C>T c.(2338-2340)Cct>Tct p.P780S SLTM_ENST00000536328.1_Missense_Mutation_p.P349S NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 780 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GAACTCTCAGGAAACCTGCCC 0.403000 15 124 0 0 0.006122 0 0 PRKCE 5581 broad.mit.edu 37 2 46411915 46411915 + Silent SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:46411915C>G ENST00000306156.3 + 15 2436 c.2109C>G c.(2107-2109)acC>acG p.T703T NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon 703 AGC-kinase C-terminal. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) AAGACTTTACCCGGGAAGAGC 0.488000 23 56 0 0 0.001882 0 0 FKBP15 23307 broad.mit.edu 37 9 115931882 115931882 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:115931882C>T ENST00000238256.3 - 26 3224 c.3107G>A c.(3106-3108)aGa>aAa p.R1036K NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 1036 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CCCTAGAACTCTGTGGGATGG 0.552000 15 23 0 0 0.003163 0 0 TBC1D21 161514 broad.mit.edu 37 15 74180061 74180061 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:74180061G>A ENST00000300504.2 + 9 961 c.878G>A c.(877-879)gGg>gAg p.G293E TBC1D21_ENST00000535547.2_Missense_Mutation_p.G257E|TBC1D21_ENST00000562056.1_Missense_Mutation_p.G256E NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 293 intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 AGCATGGGCGGGGATGACATC 0.647000 25 30 0 0 0.003954 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58183700 58183700 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:58183700G>A ENST00000483681.1 - 8 1133 c.552C>T c.(550-552)ttC>ttT p.F184F DNASE1L3_ENST00000486455.1_Silent_p.F154F|DNASE1L3_ENST00000318316.3_Silent_p.F184F|DNASE1L3_ENST00000394549.2_Silent_p.F184F Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 184 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) CCATGAAAATGAAATTCTAAA 0.517000 12 24 0 0 0.002450 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995456 140995456 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:140995456C>T ENST00000285879.4 + 4 2552 c.2266C>T c.(2266-2268)Ccc>Tcc p.P756S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 756 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTTGAGTCTTCCCCAGAGTTT 0.547000 HNSCC(15;0.026) 108 23 0 0 0.003610 0 0 TBC1D8 11138 broad.mit.edu 37 2 101666995 101666995 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:101666995G>A ENST00000409318.1 - 5 870 c.740C>T c.(739-741)tCc>tTc p.S247F TBC1D8_ENST00000376840.4_Missense_Mutation_p.S232F NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 232 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 CAGGAACATGGAGAAGTCACG 0.512000 4 18 0 0 0.000248 0 0 DPYD 1806 broad.mit.edu 37 1 98348837 98348837 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:98348837G>A ENST00000370192.3 - 2 233 c.133C>T c.(133-135)Cct>Tct p.P45S DPYD_ENST00000423006.2_Intron|DPYD_ENST00000306031.5_Missense_Mutation_p.P45S NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 45 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTCTTATCAGGATTTCTTTTC 0.373000 8 11 0 0 0.004482 0 0 RSAD1 55316 broad.mit.edu 37 17 48559767 48559767 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:48559767C>T ENST00000258955.2 + 4 875 c.790C>T c.(790-792)Ctt>Ttt p.L264F NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 264 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CCGGGCTGTCCTTCGGGAGGC 0.652000 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 22 0 0 0.002299 0 0 FAM65C 140876 broad.mit.edu 37 20 49218928 49218928 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:49218928C>T ENST00000327979.2 - 13 1739 c.1328G>A c.(1327-1329)cGg>cAg p.R443Q FAM65C_ENST00000045083.2_Missense_Mutation_p.R443Q|FAM65C_ENST00000535356.1_Missense_Mutation_p.R447Q Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 443 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGGGTCCTCCCGAGCCTCCTC 0.662000 21 36 0 0 0.002299 0 0 SACS 26278 broad.mit.edu 37 13 23905533 23905533 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:23905533G>A ENST00000382298.3 - 10 13070 c.12482C>T c.(12481-12483)cCt>cTt p.P4161L SACS_ENST00000402364.1_Missense_Mutation_p.P3411L|SACS_ENST00000382292.3_Missense_Mutation_p.P4161L NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4161 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AATTTCAGCAGGAATTGGTGT 0.413000 33 88 0 0 0.003755 0 0 TBC1D17 79735 broad.mit.edu 37 19 50386145 50386145 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:50386145C>T ENST00000221543.5 + 8 1222 c.923C>T c.(922-924)tCg>tTg p.S308L TBC1D17_ENST00000535102.2_Missense_Mutation_p.S275L NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 308 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CGGATCTTCTCGGGGGTGAGT 0.672000 14 39 0 0 0.004007 0 0 GAD1 2571 broad.mit.edu 37 2 171704187 171704187 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:171704187G>A ENST00000358196.3 + 11 1554 c.1002_splice c.e11-1 p.G335_splice NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 335 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ACCTTGTAGGGATATGTTCCC 0.353000 31 66 0 0 0.004878 0 0 DZIP1 22873 broad.mit.edu 37 13 96251628 96251628 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:96251628C>T ENST00000347108.3 - 13 1960 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K DZIP1_ENST00000361396.2_Missense_Mutation_p.E491K|DZIP1_ENST00000376829.2_Missense_Mutation_p.E510K|DZIP1_ENST00000361156.3_Missense_Mutation_p.E491K Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 510 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) CCTTTTTCTTCCTCTGAAAGT 0.373000 17 21 0 0 0.004990 0 0 KDM7A 80853 broad.mit.edu 37 7 139826443 139826443 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:139826443G>A ENST00000397560.2 - 6 979 c.882C>T c.(880-882)gtC>gtT p.V294V JHDM1D_ENST00000006967.5_Silent_p.V294V NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 294 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TTACCCAGAGGACATGGTACC 0.373000 15 97 0 0 0.007413 0 0 SAMD12 401474 broad.mit.edu 37 8 119209968 119209968 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:119209968G>A ENST00000409003.4 - 5 595 c.467C>T c.(466-468)tCa>tTa p.S156L NM_001101676.1 NP_001095146.1 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 156 endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) ACCCTCAGATGATGCTGCAAG 0.428000 70 63 0 0 0.003610 0 0 OR2K2 26248 broad.mit.edu 37 9 114090518 114090518 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:114090518G>A ENST00000374428.1 - 1 282 c.283C>T c.(283-285)Ctc>Ttc p.L95F OR2K2_ENST00000302681.1_Missense_Mutation_p.L66F Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 ATGAAAGAGAGATTTCCAAGG 0.413000 18 17 0 0 0.007413 0 0 NOTCH3 4854 broad.mit.edu 37 19 15290951 15290951 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:15290951G>A ENST00000263388.2 - 20 3334 c.3259C>T c.(3259-3261)Ccc>Tcc p.P1087S NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1087 EGF-like 28. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GCCAAGCAGGGGTCCACCTCC 0.652000 35 27 0 0 0.005524 0 0 IFIT5 24138 broad.mit.edu 37 10 91177344 91177344 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:91177344C>T ENST00000371795.4 + 2 601 c.388C>T c.(388-390)Cct>Tct p.P130S IFIT5_ENST00000416601.1_Missense_Mutation_p.P130S NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 130 binding endometrium(1)|large_intestine(4)|lung(4) 9 ATTGTCCAGTCCTTCTAACTA 0.428000 17 43 0 0 0.004990 0 0 TECTA 7007 broad.mit.edu 37 11 121058574 121058574 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:121058574C>T ENST00000392793.1 + 21 6304 c.6033C>T c.(6031-6033)atC>atT p.I2011I TECTA_ENST00000264037.2_Silent_p.I2011I O75443 TECTA_HUMAN tectorin alpha 2011 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCATTGGCATCGAGGAGAATG 0.433000 20 15 0 0 0.001523 0 0 SLC46A3 283537 broad.mit.edu 37 13 29287571 29287571 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:29287571G>A ENST00000266943.6 - 3 675 c.306C>T c.(304-306)ttC>ttT p.F102F SLC46A3_ENST00000380814.4_Silent_p.F102F NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 102 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) AAATCATAGGGAATTTTCGTC 0.403000 8 15 0 0 0.003080 0 0 GCM1 8521 broad.mit.edu 37 6 52993217 52993217 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:52993217C>T ENST00000259803.7 - 6 1309 c.1098G>A c.(1096-1098)gaG>gaA p.E366E NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 366 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) CATGTACTTTCTCTTCATAAA 0.488000 28 173 0 0 0.004656 0 0 MMP16 4325 broad.mit.edu 37 8 89180047 89180047 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:89180047A>C ENST00000286614.6 - 4 841 c.560T>G c.(559-561)aTt>aGt p.I187S MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 187 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 AGATGCAAAAATAATGGTTAT 0.453000 8 30 0 0 0.006214 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43658673 43658673 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:43658673A>C ENST00000396976.2 - 3 991 c.857T>G c.(856-858)cTc>cGc p.L286R ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.L285R|ZSCAN29_ENST00000396972.1_Intron NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 286 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) ATATTCCCTGAGCCGCTCAGC 0.547000 19 52 0 0 0.001523 0 0 PDS5B 23047 broad.mit.edu 37 13 33273881 33273881 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:33273881C>T ENST00000315596.10 + 16 1801 c.1615C>T c.(1615-1617)Cct>Tct p.P539S NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 539 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TTTACCTGATCCTGGTAAGGC 0.274000 6 13 0 0 0.001168 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24565548 24565548 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:24565548G>A ENST00000376862.3 + 3 1170 c.537G>A c.(535-537)cgG>cgA p.R179R SYNDIG1_ENST00000482637.1_3'UTR NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 179 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 TGCCCCCGCGGGACCACCTGG 0.557000 39 94 0 0 0.005524 0 0 GLRB 2743 broad.mit.edu 37 4 158057999 158057999 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:158057999C>T ENST00000264428.4 + 6 841 c.571C>T c.(571-573)Ccc>Tcc p.P191S GLRB_ENST00000541722.1_Missense_Mutation_p.P191S|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.P191S NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 191 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) GACATTGTTTCCCATGGATAC 0.348000 20 21 0 0 0.002299 0 0 NALCN 259232 broad.mit.edu 37 13 101717859 101717859 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:101717859G>A ENST00000251127.6 - 40 4582 c.4501C>T c.(4501-4503)Ctg>Ttg p.L1501L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1501 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCCACCTCCAGCCTCCCACGC 0.577000 18 30 0 0 0.006122 0 0 STON1 11037 broad.mit.edu 37 2 48807965 48807965 + Missense_Mutation SNP C C T rs151071170 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:48807965C>T ENST00000309835.3 + 1 203 c.193C>T c.(193-195)Ccc>Tcc p.P65S STON1_ENST00000406226.1_Missense_Mutation_p.P65S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P65S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P65S|STON1_ENST00000404752.1_Missense_Mutation_p.P65S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P65S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P65S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P65S stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TCTCTCCTCCCCCATTGTAGA 0.502000 36 100 0 0 0.005524 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46058033 46058033 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:46058033C>T ENST00000380095.1 + 1 761 c.699C>T c.(697-699)ccC>ccT p.P233P TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 233 keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 TCTGCCGCCCCGTGTGCTCCC 0.692000 54 24 0 0 0.003610 0 0 LCP1 3936 broad.mit.edu 37 13 46725188 46725188 + Silent SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:46725188A>C ENST00000398576.2 - 11 1153 c.765T>G c.(763-765)ggT>ggG p.G255G LCP1_ENST00000323076.2_Silent_p.G255G P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 255 Actin-binding 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) CCAGGCTCTCACCTTCTCTCA 0.453000 T BCL6 NHL 14 19 0 0 0.004990 0 0 MCOLN1 57192 broad.mit.edu 37 19 7595183 7595183 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:7595183C>T ENST00000264079.6 + 12 1496 c.1371C>T c.(1369-1371)ctC>ctT p.L457L NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 457 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCGCTCACTCTCCATGGTGT 0.647000 34 121 0 0 0.004878 0 0 RP1L1 94137 broad.mit.edu 37 8 10468596 10468596 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:10468596C>T ENST00000382483.3 - 4 3235 c.3012G>A c.(3010-3012)ggG>ggA p.G1004G NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1004 intracellular signal transduction p.G1004V(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GAGCTGGCTCCCCCAGGCCTT 0.662000 12 9 0 0 0.000978 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140783812 140783812 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140783812C>T ENST00000573521.1 + 1 1293 c.1293C>T c.(1291-1293)ccC>ccT p.P431P PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACTCCGCCCCTGTCCACAG 0.453000 29 7 0 0 0.001786 0 0 ROS1 6098 broad.mit.edu 37 6 117700232 117700232 + Missense_Mutation SNP G G A rs146533107 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:117700232G>A ENST00000368508.3 - 17 2785 c.2587C>T c.(2587-2589)Cgg>Tgg p.R863W GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R858W NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 863 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CTCTGTCCCCGAAGAACAGCT 0.388000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 24 8 0 0 0.003954 0 0 PTPRN2 5799 broad.mit.edu 37 7 157475461 157475461 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:157475461C>T ENST00000389413.3 - 12 1973 c.1870G>A c.(1870-1872)Gga>Aga p.G624R PTPRN2_ENST00000409483.1_Missense_Mutation_p.G615R|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G676R|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G636R|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G653R NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 653 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CCCCCTAGTCCCGAGAGCTTC 0.572000 26 195 0 0 0.007291 0 0 KCNT2 343450 broad.mit.edu 37 1 196309666 196309666 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:196309666C>T ENST00000367433.5 - 16 1689 c.1588G>A c.(1588-1590)Gat>Aat p.D530N KCNT2_ENST00000367431.4_Missense_Mutation_p.D480N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.D141N|KCNT2_ENST00000294725.8_Missense_Mutation_p.D530N Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 530 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TTTTTATTATCCTCCCTCCTA 0.303000 26 14 0 0 0.005443 0 0 LRRC40 55631 broad.mit.edu 37 1 70618143 70618143 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:70618143A>T ENST00000370952.3 - 12 1491 c.1412T>A c.(1411-1413)cTt>cAt p.L471H NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 471 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 CAATTTCTGAAGCACACATAA 0.289000 8 15 0 0 0.004482 0 0 FLT4 2324 broad.mit.edu 37 5 180048671 180048671 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:180048671C>T ENST00000261937.6 - 13 1969 c.1891G>A c.(1891-1893)Gcg>Acg p.A631T FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.A631T|FLT4_ENST00000502649.1_Missense_Mutation_p.A631T NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 631 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GCGTGGCGCGCCCCAGGTGCC 0.677000 17 12 0 0 0.006122 0 0 ILDR1 286676 broad.mit.edu 37 3 121720279 121720279 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:121720279G>A ENST00000273691.3 - 5 627 c.522C>T c.(520-522)atC>atT p.I174I ILDR1_ENST00000344209.5_Silent_p.I174I|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000462014.1_Silent_p.I186I NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 174 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CTCCCAGGATGATGAAGATCA 0.542000 18 21 0 0 0.007413 0 0 GTF2H1 2965 broad.mit.edu 37 11 18382231 18382231 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:18382231C>T ENST00000265963.4 + 14 1697 c.1537C>T c.(1537-1539)Cgg>Tgg p.R513W GTF2H1_ENST00000534641.1_Missense_Mutation_p.R397W|GTF2H1_ENST00000526630.2_Missense_Mutation_p.R103W|GTF2H1_ENST00000530496.2_Missense_Mutation_p.R201W|GTF2H1_ENST00000453096.2_Missense_Mutation_p.R513W NM_005316.3 NP_005307.1 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 62kDa 513 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 AGAAAAGATTCGGAGACAGTA 0.323000 Nucleotide excision repair (NER) 63 16 0 0 0.003610 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599265 136599265 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:136599265G>A ENST00000531224.1 - 4 1006 c.754C>T c.(754-756)Cac>Tac p.H252Y BCLAF1_ENST00000353331.4_Missense_Mutation_p.H250Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.H252Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.H250Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.H252Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.H250Y NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 252 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTTGCAGAGTGAACTGTACTG 0.438000 13 74 0 0 0.004007 0 0 NAA25 80018 broad.mit.edu 37 12 112509802 112509802 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:112509802C>T ENST00000261745.4 - 10 1181 c.933G>A c.(931-933)acG>acA p.T311T NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 311 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TAGATTCTTCCGTTATCCGAT 0.388000 7 26 0 0 0.001984 0 0 TRPC3 7222 broad.mit.edu 37 4 122854187 122854187 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:122854187C>T ENST00000264811.5 - 1 425 c.7G>A c.(7-9)Gga>Aga p.G3R TRPC3_ENST00000379645.3_Missense_Mutation_p.G76R|TRPC3_ENST00000513531.1_Missense_Mutation_p.G3R NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 0 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GATGGGCTTCCCTCCATGGAC 0.547000 13 17 0 0 0.001855 0 0 WDR33 55339 broad.mit.edu 37 2 128480907 128480907 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:128480907C>T ENST00000322313.4 - 12 1369 c.1211G>A c.(1210-1212)cGa>cAa p.R404Q NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 404 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TGGTCGGTTTCGAGTCCAGAA 0.388000 21 69 0 0 0.001882 0 0 ANKMY1 51281 broad.mit.edu 37 2 241492400 241492400 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:241492400G>A ENST00000391987.1 - 4 510 c.144C>T c.(142-144)ttC>ttT p.F48F ANKMY1_ENST00000405002.1_Silent_p.F48F|ANKMY1_ENST00000405523.3_Silent_p.F137F|ANKMY1_ENST00000373318.2_Silent_p.F137F|ANKMY1_ENST00000406958.1_Silent_p.F137F|ANKMY1_ENST00000361678.4_Silent_p.F137F|ANKMY1_ENST00000403283.1_Silent_p.F216F|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000373320.4_Silent_p.F48F|ANKMY1_ENST00000401804.1_Silent_p.F137F|ANKMY1_ENST00000536462.1_Silent_p.F90F|ANKMY1_ENST00000272972.3_Silent_p.F48F Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 48 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) ATGTGCCCGTGAAACTGGAGC 0.552000 9 21 0 0 0.006214 0 0 ADCY8 114 broad.mit.edu 37 8 131964149 131964149 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:131964149G>A ENST00000286355.5 - 3 3298 c.1206C>T c.(1204-1206)ttC>ttT p.F402F ADCY8_ENST00000377928.3_Silent_p.F402F NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 402 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGATCCGATGGAACTGGTGCT 0.527000 HNSCC(32;0.087) 17 35 0 0 0.004007 0 0 UMODL1 89766 broad.mit.edu 37 21 43531747 43531747 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:43531747G>A ENST00000400427.1 + 11 2595 c.2199G>A c.(2197-2199)gaG>gaA p.E733E UMODL1_ENST00000400424.1_Silent_p.E605E|UMODL1_ENST00000408989.2_Silent_p.E805E|UMODL1_ENST00000408910.2_Silent_p.E677E NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 727 Fibronectin type-III 2. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 TGCGAAATGAGGACAGTGGAC 0.612000 10 32 0 0 0.000978 0 0 CEACAM3 1084 broad.mit.edu 37 19 42312871 42312871 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:42312871C>T ENST00000357396.3 + 3 686 c.445C>T c.(445-447)Cct>Tct p.P149S CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.P149S|CEACAM3_ENST00000221999.4_Missense_Mutation_p.P149S NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 149 integral to membrane endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 CCCAGGCCTTCCTGTGGGGGC 0.607000 93 55 0 0 0.003610 0 0 CCDC88B 283234 broad.mit.edu 37 11 64111765 64111765 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:64111765G>A ENST00000356786.5 + 14 1796 c.1752G>A c.(1750-1752)gaG>gaA p.E584E CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 584 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTCCTGTGGAGACACAGGAGT 0.642000 19 25 0 0 0.007413 0 0 AGAP11 119385 broad.mit.edu 37 10 88759215 88759215 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:88759215C>T ENST00000444431.1 + 0 345 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding GGTTGCCAAGCTGTTCTACCT 0.338000 12 33 0 0 0.000978 0 0 ZGPAT 84619 broad.mit.edu 37 20 62364578 62364578 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:62364578C>T ENST00000328969.5 + 3 719 c.592C>T c.(592-594)Cat>Tat p.H198Y ZGPAT_ENST00000355969.6_Missense_Mutation_p.H198Y|ZGPAT_ENST00000369967.3_Missense_Mutation_p.H198Y|ZGPAT_ENST00000448100.1_Missense_Mutation_p.H198Y|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000357119.4_Missense_Mutation_p.H198Y NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 198 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CAGGTTCTCCCATGGGCAGGT 0.657000 12 62 0 0 0.001855 0 0 CLU 1191 broad.mit.edu 37 8 27461907 27461907 + Missense_Mutation SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:27461907C>G ENST00000316403.10 - 6 1240 c.835G>C c.(835-837)Gac>Cac p.D279H CLU_ENST00000560366.1_Missense_Mutation_p.D331H|CLU_ENST00000546343.1_Missense_Mutation_p.D290H|CLU_ENST00000523500.1_Missense_Mutation_p.D279H|CLU_ENST00000405140.3_Missense_Mutation_p.D279H P10909 CLUS_HUMAN clusterin 279 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) CGGTCATCGTCGCCTTCTGGG 0.512000 27 18 0 0 0.006320 0 0 POM121L12 285877 broad.mit.edu 37 7 53103958 53103958 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:53103958C>T ENST00000408890.4 + 1 610 c.594C>T c.(592-594)ttC>ttT p.F198F NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 198 p.F198F(2) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CGTTGTGGTTCGAGGTCTCAG 0.667000 32 80 0 0 0.003755 0 0 FSIP2 401024 broad.mit.edu 37 2 186672480 186672480 + Silent SNP C C T rs138135058 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:186672480C>T ENST00000343098.5 + 17 18714 c.18714C>T c.(18712-18714)atC>atT p.I6238I FSIP2_ENST00000424728.1_Silent_p.I6149I NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 p.I847I(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TTGAAAACATCGTTGAAAAGA 0.393000 12 22 0 0 0.000978 0 0 CEACAM21 90273 broad.mit.edu 37 19 42083815 42083815 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:42083815C>T ENST00000187608.9 + 2 368 c.328C>T c.(328-330)Cag>Tag p.Q110* CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Nonsense_Mutation_p.Q110*|CEACAM21_ENST00000407170.2_5'UTR NM_001098506.1|NM_033543.3 NP_001091976.1|NP_291021.2 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 110 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 TCTGCATTTCCAGAACGTCAC 0.488000 28 18 0 0 0.006320 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42796529 42796529 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:42796529C>T ENST00000314073.5 + 6 634 c.458C>T c.(457-459)tCt>tTt p.S153F GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S153F GLTSCR1-like ACTCAGGCTTCTAATGTTTCT 0.463000 133 20 0 0 0.003610 0 0 NFATC4 4776 broad.mit.edu 37 14 24845681 24845681 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:24845681C>T ENST00000413692.2 + 10 2571 c.2427C>T c.(2425-2427)ccC>ccT p.P809P NFATC4_ENST00000553708.1_Silent_p.P746P|NFATC4_ENST00000553469.1_Silent_p.P778P|NFATC4_ENST00000555453.1_Silent_p.P734P|NFATC4_ENST00000555802.1_Silent_p.P34P|NFATC4_ENST00000556279.1_Silent_p.P778P|NFATC4_ENST00000556759.1_Silent_p.P281P|NFATC4_ENST00000422617.3_Silent_p.P734P|NFATC4_ENST00000556169.1_Silent_p.P734P|NFATC4_ENST00000554344.1_Silent_p.P676P|NFATC4_ENST00000557451.1_Silent_p.P676P|NFATC4_ENST00000250373.4_Silent_p.P746P|NFATC4_ENST00000555393.1_Silent_p.P34P|NFATC4_ENST00000555167.1_Silent_p.P281P|NFATC4_ENST00000554050.1_Silent_p.P746P|NFATC4_ENST00000554966.1_Silent_p.P759P|NFATC4_ENST00000539237.2_Silent_p.P778P|NFATC4_ENST00000557767.1_Silent_p.P34P|NFATC4_ENST00000554591.1_Silent_p.P809P|NFATC4_ENST00000554661.1_Silent_p.P676P|NFATC4_ENST00000555590.1_Silent_p.P759P|NFATC4_ENST00000554473.1_Silent_p.P281P|NFATC4_ENST00000424781.2_Silent_p.P759P|NFATC4_ENST00000553879.1_Silent_p.P676P NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 746 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) ATGGCATGCCCCCTCTGTACC 0.617000 33 36 0 0 0.003271 0 0 CGN 57530 broad.mit.edu 37 1 151498197 151498197 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:151498197C>T ENST00000271636.7 + 9 1827 c.1694C>T c.(1693-1695)tCa>tTa p.S565L NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 559 Glu-rich. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GAGGAGACTTCAGAGGAGACA 0.552000 36 25 0 0 0.006230 0 0 OVOS2 144203 broad.mit.edu 37 12 31269354 31269354 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:31269354G>A ENST00000542490.1 - 0 101 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CAAGGAAAGAGAAAATCCAGA 0.368000 31 72 0 0 0.003755 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84694116 84694116 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:84694116C>T ENST00000286744.5 + 27 4808 c.4584C>T c.(4582-4584)gcC>gcT p.A1528A ADAMTSL3_ENST00000567476.1_Silent_p.A1528A NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1528 TSP type-1 9. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GAGCATGTGCCCCTAAAGACC 0.527000 11 43 0 0 0.001368 0 0 PURG 29942 broad.mit.edu 37 8 30854142 30854142 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:30854142C>T ENST00000339382.2 - 2 1868 c.936G>A c.(934-936)caG>caA p.Q312Q NM_001015508.1 NP_001015508.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 0 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) TATCATGGGGCTGTTCCTTAT 0.328000 21 60 0 0 0.006320 0 0 ATAD2 29028 broad.mit.edu 37 8 124340747 124340747 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:124340747G>A ENST00000287394.5 - 25 3658 c.3551C>T c.(3550-3552)tCa>tTa p.S1184L ATAD2_ENST00000521903.1_Missense_Mutation_p.S502L NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1184 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CTTTGCCTGTGAAATCTTCCT 0.373000 33 58 0 0 0.002836 0 0 ANKRD24 170961 broad.mit.edu 37 19 4210288 4210288 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:4210288C>T ENST00000600132.1 + 13 1254 c.978C>T c.(976-978)atC>atT p.I326I ANKRD24_ENST00000318934.4_Silent_p.I326I|ANKRD24_ENST00000262970.5_Silent_p.I416I|ANKRD24_ENST00000595096.1_3'UTR NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 326 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) ATGAGGAGATCGTGAGGCTGC 0.632000 3 3 0 0 0.000602 0 0 DHRS2 10202 broad.mit.edu 37 14 24114078 24114078 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:24114078C>T ENST00000250383.6 + 8 1194 c.718C>T c.(718-720)Cat>Tat p.H240Y DHRS2_ENST00000344777.7_Silent_p.I243I NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 218 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) CAAGGAACATCATCAGCTGCA 0.512000 15 68 0 0 0.004990 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994883 140994883 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:140994883C>T ENST00000285879.4 + 4 1979 c.1693C>T c.(1693-1695)Cct>Tct p.P565S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 565 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCACTACTTTCCTCAGAGCCC 0.572000 HNSCC(15;0.026) 217 52 0 0 0.003610 0 0 GRM8 2918 broad.mit.edu 37 7 126173566 126173566 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:126173566C>T ENST00000339582.2 - 9 2678 c.1870G>A c.(1870-1872)Gtg>Atg p.V624M GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.V624M|GRM8_ENST00000358373.3_Missense_Mutation_p.V624M O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 624 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTTAGGAGCACGTAACTAAGT 0.458000 HNSCC(24;0.065) 60 26 0 0 0.003610 0 0 IGSF21 84966 broad.mit.edu 37 1 18554492 18554492 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:18554492C>T ENST00000251296.1 + 2 554 c.171C>T c.(169-171)atC>atT p.I57I NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 57 Ig-like 1. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) TGCGGGAGATCGTGTGGTACC 0.587000 20 29 0 0 0.001216 0 0 ZNF532 55205 broad.mit.edu 37 18 56587472 56587472 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:56587472G>A ENST00000336078.4 + 4 2729 c.1953G>A c.(1951-1953)aaG>aaA p.K651K ZNF532_ENST00000589288.1_Silent_p.K651K|ZNF532_ENST00000591083.1_Silent_p.K651K|ZNF532_ENST00000591230.1_Silent_p.K651K|ZNF532_ENST00000591808.1_Silent_p.K651K NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 651 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 ATTGTACAAAGAACCTCGTTT 0.493000 12 47 0 0 0.001855 0 0 DROSHA 29102 broad.mit.edu 37 5 31526876 31526876 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:31526876G>A ENST00000511367.2 - 4 408 c.164C>T c.(163-165)cCt>cTt p.P55L DROSHA_ENST00000442743.1_Missense_Mutation_p.P55L|DROSHA_ENST00000513349.1_Missense_Mutation_p.P55L|DROSHA_ENST00000344624.3_Missense_Mutation_p.P55L|DROSHA_ENST00000504361.1_5'UTR NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 55 Pro-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 GGCACTTGGAGGTTCATATTG 0.557000 19 2 0 0 0.001216 0 0 NCAN 1463 broad.mit.edu 37 19 19356151 19356151 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:19356151G>A ENST00000252575.5 + 13 3565 c.3522G>A c.(3520-3522)ccG>ccA p.P1174P NCAN_ENST00000538881.1_Silent_p.P625P NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1174 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) AGAACCAGCCGGACAATTTCT 0.572000 4 40 0 0 0.000602 0 0 PAMR1 25891 broad.mit.edu 37 11 35515740 35515740 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:35515740C>T ENST00000378880.2 - 2 599 c.154G>A c.(154-156)Gag>Aag p.E52K PAMR1_ENST00000532848.1_Missense_Mutation_p.E12K|PAMR1_ENST00000378878.3_Missense_Mutation_p.E52K|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.E52K NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 52 Cys-rich. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CAGACGCACTCAATCTGATCA 0.507000 57 7 0 0 0.003610 0 0 OR6C1 390321 broad.mit.edu 37 12 55714535 55714535 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:55714535C>T ENST00000379668.2 + 1 190 c.152C>T c.(151-153)tCc>tTc p.S51F NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 CTGCTGGATTCCCACCTGCAG 0.428000 99 19 0 0 0.003610 0 0 FMO2 2327 broad.mit.edu 37 1 171162577 171162577 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:171162577C>T ENST00000441535.1 + 3 353 c.236C>T c.(235-237)cCa>cTa p.P79L RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.P79L|FMO2_ENST00000529935.1_3'UTR NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 79 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAAGATTTTCCAAACTTCCTG 0.353000 20 62 0 0 0.001523 0 0 LGALS8 3964 broad.mit.edu 37 1 236700859 236700859 + Silent SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:236700859T>A ENST00000526589.1 + 6 628 c.108T>A c.(106-108)cgT>cgA p.R36R LGALS8_ENST00000323938.6_Silent_p.R36R|LGALS8_ENST00000341872.6_Silent_p.R36R|LGALS8_ENST00000416919.2_Silent_p.R36R|LGALS8_ENST00000450372.2_Silent_p.R36R|LGALS8_ENST00000352231.2_Silent_p.R36R|LGALS8_ENST00000527974.1_Silent_p.R36R|LGALS8_ENST00000525042.1_Silent_p.R36R|LGALS8_ENST00000526634.1_Silent_p.R36R|LGALS8_ENST00000366584.4_Silent_p.R36R O00214 LEG8_HUMAN lectin, galactoside-binding, soluble, 8 36 Galectin 1. R -> C (in dbSNP:rs1041935). cytoplasm|extracellular space sugar binding kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5) 20 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.0253)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTGTGATACGTGGGCATGTTC 0.393000 12 55 0 0 0.002450 0 0 GAA 2548 broad.mit.edu 37 17 78086482 78086482 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:78086482C>T ENST00000302262.3 + 13 2079 c.1860C>T c.(1858-1860)tcC>tcT p.S620S GAA_ENST00000390015.3_Silent_p.S620S NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 620 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) TGTGGAGCTCCTGGGAGCAGC 0.687000 13 11 0 0 0.002450 0 0 ANO1 55107 broad.mit.edu 37 11 70009430 70009430 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:70009430C>T ENST00000355303.5 + 19 2239 c.1934C>T c.(1933-1935)tCc>tTc p.S645F ANO1_ENST00000398543.2_Missense_Mutation_p.S499F|ANO1_ENST00000316296.5_Missense_Mutation_p.S587F|ANO1_ENST00000538023.1_Missense_Mutation_p.S645F|ANO1_ENST00000531349.1_Missense_Mutation_p.S354F|ANO1_ENST00000530676.1_Missense_Mutation_p.S499F NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 645 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 ATTTTCCGTTCCTTCCGAATG 0.517000 18 31 0 0 0.001882 0 0 DENND1A 57706 broad.mit.edu 37 9 126531808 126531808 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:126531808G>A ENST00000373624.2 - 4 368 c.167C>T c.(166-168)cCc>cTc p.P56L DENND1A_ENST00000373618.1_Intron|DENND1A_ENST00000373620.3_Missense_Mutation_p.P56L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.P24L|DENND1A_ENST00000394215.2_Missense_Mutation_p.P26L NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 56 UDENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 CACATAGAAGGGGAAACAAAA 0.333000 23 83 0 0 0.001786 0 0 DGKI 9162 broad.mit.edu 37 7 137271913 137271913 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:137271913G>A ENST00000453654.1 - 13 994 c.455C>T c.(454-456)cCt>cTt p.P152L DGKI_ENST00000288490.5_Missense_Mutation_p.P452L|DGKI_ENST00000446122.1_Missense_Mutation_p.P452L|DGKI_ENST00000424189.2_Missense_Mutation_p.P452L O75912 DGKI_HUMAN diacylglycerol kinase, iota 452 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 AGGAGGCTGAGGGCTCAGCTG 0.537000 15 95 0 0 0.003163 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99363184 99363184 + Silent SNP C C T rs56262026 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:99363184C>T ENST00000408927.3 + 15 1853 c.1740C>T c.(1738-1740)gtC>gtT p.V580V RAP1GDS1_ENST00000408900.3_Silent_p.V531V|RAP1GDS1_ENST00000264572.7_Silent_p.V489V|RAP1GDS1_ENST00000339360.5_Silent_p.V581V|RAP1GDS1_ENST00000453712.2_Silent_p.V580V|RAP1GDS1_ENST00000380158.4_Silent_p.V532V NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 580 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TTCTAGATGTCGTATCCAAAC 0.423000 T NUP98 T-ALL 6 8 0 0 0.001984 0 0 DNAH9 1770 broad.mit.edu 37 17 11584062 11584062 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:11584062A>G ENST00000262442.3 + 19 3667 c.3599A>G c.(3598-3600)aAc>aGc p.N1200S DNAH9_ENST00000454412.2_Missense_Mutation_p.N1200S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1200 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAATGGAACAACATAAAAAAG 0.532000 14 25 0 0 0.004990 0 0 PSG9 5678 broad.mit.edu 37 19 43762387 43762387 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:43762387C>T ENST00000244293.7 - 4 997 c.931G>A c.(931-933)Gaa>Aaa p.E311K PSG9_ENST00000593948.1_Missense_Mutation_p.E311K|PSG9_ENST00000418820.2_Missense_Mutation_p.E311K|PSG9_ENST00000596730.1_Missense_Mutation_p.E218K|PSG9_ENST00000443718.3_Missense_Mutation_p.E311K|PSG9_ENST00000270077.3_Missense_Mutation_p.E404K|PSG9_ENST00000291752.5_Missense_Mutation_p.E218K Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 404 Ig-like C2-type 2. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TTGGAGATTTCCTTGCCAGTG 0.448000 76 165 0 0 0.003610 0 0 TRPM8 79054 broad.mit.edu 37 2 234845985 234845985 + Silent SNP C C T rs143047295 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:234845985C>T ENST00000355722.4 + 3 144 c.30C>T c.(28-30)atC>atT p.I10I TRPM8_ENST00000324695.4_Intron|TRPM8_ENST00000409625.1_Intron|TRPM8_ENST00000433712.2_Intron Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 0 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TCCACACCATCGTGCTTATCA 0.438000 18 18 0 0 0.006122 0 0 CDH4 1002 broad.mit.edu 37 20 60504813 60504813 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:60504813G>A ENST00000360469.5 + 13 2240 c.2152G>A c.(2152-2154)Gac>Aac p.D718N CDH4_ENST00000543233.1_Missense_Mutation_p.D644N NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 718 Cadherin 5. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) TGACAACGGGGACTGCACCAC 0.582000 67 56 0 0 0.003610 0 0 PSG6 5675 broad.mit.edu 37 19 43411146 43411146 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:43411146G>A ENST00000187910.2 - 5 1233 c.1168C>T c.(1168-1170)Ctc>Ttc p.L390F PSG6_ENST00000402603.4_Missense_Mutation_p.L297F|PSG6_ENST00000292125.2_Missense_Mutation_p.L390F NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) CAAGCATAGAGCCCGCTATGA 0.448000 138 123 0 0 0.003610 0 0 TLE4 7091 broad.mit.edu 37 9 82321672 82321672 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:82321672C>T ENST00000376520.4 + 11 1622 c.794C>T c.(793-795)tCc>tTc p.S265F TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376552.2_Missense_Mutation_p.S265F|TLE4_ENST00000265284.6_Missense_Mutation_p.S240F|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.S265F O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GATCCATCTTCCCCTCGAGGG 0.498000 27 53 0 0 0.002096 0 0 APOBEC1 339 broad.mit.edu 37 12 7802203 7802203 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:7802203C>T ENST00000229304.4 - 5 671 c.651G>A c.(649-651)acG>acA p.T217T NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 217 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 GTGGCGGAATCGTTTGGTAAT 0.398000 5 42 0 0 0.000602 0 0 PCLO 27445 broad.mit.edu 37 7 82582033 82582033 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:82582033C>T ENST00000423517.2 - 5 8573 c.8236G>A c.(8236-8238)Gat>Aat p.D2746N PCLO_ENST00000333891.8_Missense_Mutation_p.D2746N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2677 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCAGAAAGATCAATACATTTA 0.348000 5 49 0 0 0.000602 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777393 18777393 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:18777393G>A ENST00000380548.4 + 19 3505 c.3166G>A c.(3166-3168)Gag>Aag p.E1056K NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1056 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GACCTCGGAGGAGGACCCGGG 0.692000 3 3 0 0 0.000248 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69053182 69053182 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:69053182G>A ENST00000295381.3 + 11 2213 c.1794G>A c.(1792-1794)aaG>aaA p.K598K ARHGAP25_ENST00000409202.3_Silent_p.K599K|ARHGAP25_ENST00000409030.3_Silent_p.K591K|ARHGAP25_ENST00000479844.1_Silent_p.K292K|ARHGAP25_ENST00000467265.1_Silent_p.K559K|ARHGAP25_ENST00000409220.1_Silent_p.K592K NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 598 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 AACTGGAGAAGGAAAAGAAGA 0.473000 22 71 0 0 0.001882 0 0 KRT28 162605 broad.mit.edu 37 17 38953483 38953483 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:38953483C>T ENST00000306658.7 - 4 806 c.741G>A c.(739-741)atG>atA p.M247I NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 247 Linker 12.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) GGGCCGCGTTCATCTCCACGT 0.602000 40 52 0 0 0.003610 0 0 NWD1 284434 broad.mit.edu 37 19 16918626 16918626 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:16918626C>T ENST00000524140.2 + 18 4384 c.3966C>T c.(3964-3966)gtC>gtT p.V1322V NWD1_ENST00000552788.1_Silent_p.V1322V|NWD1_ENST00000549814.1_Silent_p.V1280V|NWD1_ENST00000523826.1_Silent_p.V1116V|NWD1_ENST00000379808.3_Silent_p.V1322V|NWD1_ENST00000339803.6_Silent_p.V1187V NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1322 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ACAACATCGTCCTGGTGCTGG 0.607000 21 49 0 0 0.001882 0 0 GABPB2 126626 broad.mit.edu 37 1 151062929 151062929 + Silent SNP C C T rs145271934 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:151062929C>T ENST00000368918.3 + 3 487 c.156C>T c.(154-156)tcC>tcT p.S52S GABPB2_ENST00000368916.1_Silent_p.S52S|GABPB2_ENST00000368917.1_Silent_p.S52S NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 52 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) GTCATTATTCCACAGCAGAAG 0.507000 45 18 0 0 0.003610 0 0 EBF2 64641 broad.mit.edu 37 8 25718576 25718576 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:25718576C>T ENST00000520164.1 - 13 1868 c.1331G>A c.(1330-1332)gGa>gAa p.G444E EBF2_ENST00000535548.1_Missense_Mutation_p.G175E|EBF2_ENST00000408929.3_Missense_Mutation_p.G296E NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 444 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding p.G444E(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TTGATTATTTCCTTGTGTTGA 0.473000 66 78 0 0 0.003610 0 0 MAGEH1 28986 broad.mit.edu 37 X 55479300 55479300 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:55479300C>T ENST00000342972.1 + 1 763 c.493C>T c.(493-495)Ccc>Tcc p.P165S NM_014061.3 NP_054780.2 Q9H213 MAGH1_HUMAN melanoma antigen family H, 1 165 MAGE. apoptosis central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2) 15 CTTCTGGGGGCCCCGAGCACA 0.507000 49 7 0 0 0.003610 0 0 ALS2 57679 broad.mit.edu 37 2 202619390 202619390 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:202619390G>A ENST00000264276.6 - 6 1848 c.1476C>T c.(1474-1476)tcC>tcT p.S492S NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 492 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 AGAGCCTGGGGGAAACTGAAA 0.488000 21 24 0 0 0.002780 0 0 NGFR 4804 broad.mit.edu 37 17 47583706 47583706 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:47583706C>T ENST00000172229.3 + 3 379 c.254C>T c.(253-255)cCg>cTg p.P85L RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 85 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm p.P85L(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) CCGTGCAAGCCGTGCACCGAG 0.677000 17 26 0 0 0.006122 0 0 MUC16 94025 broad.mit.edu 37 19 8995964 8995964 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:8995964G>A ENST00000397910.4 - 62 41480 c.41277C>T c.(41275-41277)tcC>tcT p.S13759S MUC16_ENST00000380951.5_Silent_p.S400S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13761 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCTGGTGGTGGACACAGAGC 0.532000 16 29 0 0 0.001882 0 0 VCL 7414 broad.mit.edu 37 10 75849867 75849867 + Silent SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:75849867A>G ENST00000211998.4 + 10 1357 c.1263A>G c.(1261-1263)ttA>ttG p.L421L VCL_ENST00000372755.3_Silent_p.L421L|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 421 3 X 112 AA tandem repeats.|N-terminal globular head. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) TAGCAGAATTATGTGATGATC 0.418000 24 56 0 0 0.004656 0 0 SLC22A9 114571 broad.mit.edu 37 11 63174110 63174110 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:63174110C>T ENST00000279178.3 + 7 1464 c.1215C>T c.(1213-1215)aaC>aaT p.N405N SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 405 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AATACATGAACCGTCGAGCAA 0.493000 37 22 0 0 0.003271 0 0 C10orf12 26148 broad.mit.edu 37 10 98742843 98742843 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:98742843C>T ENST00000286067.2 + 1 1803 c.1696C>T c.(1696-1698)Cac>Tac p.H566Y NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 566 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TGACAGTTTCCACACGGAAAC 0.498000 34 26 0 0 0.002836 0 0 PGK2 5232 broad.mit.edu 37 6 49753821 49753821 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:49753821C>T ENST00000304801.3 - 1 1232 c.1080G>A c.(1078-1080)gtG>gtA p.V360V NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 360 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) AAGTGGCTTTCACAATTTCAT 0.473000 125 71 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9075687 9075687 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9075687G>A ENST00000397910.4 - 3 11962 c.11759C>T c.(11758-11760)tCa>tTa p.S3920L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3921 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTTGGGGATGAAGTCGTCCC 0.468000 5 19 0 0 0.001168 0 0 RALGDS 5900 broad.mit.edu 37 9 135985090 135985090 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:135985090G>A ENST00000393160.3 - 4 695 c.342C>T c.(340-342)gcC>gcT p.A114A RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000542690.1_Silent_p.A240A|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000372050.3_Silent_p.A169A|RALGDS_ENST00000393157.3_Silent_p.A168A NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 169 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) AGGCCGTGAGGGCGTCACATc 0.522000 T CIITA """PMBL, Hodgkin Lymphona, """ 15 43 0 0 0.004007 0 0 WASF3 10810 broad.mit.edu 37 13 27256995 27256995 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:27256995C>T ENST00000361042.4 + 9 1451 c.1226C>T c.(1225-1227)tCt>tTt p.S409F WASF3_ENST00000335327.5_Missense_Mutation_p.S412F Q9UPY6 WASF3_HUMAN WAS protein family, member 3 412 Poly-Pro. actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) GGTCCCGGGTCTTCTCTTTCG 0.687000 27 41 0 0 0.007291 0 0 NUB1 51667 broad.mit.edu 37 7 151073881 151073881 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:151073881C>T ENST00000568733.1 + 14 1791 c.1725C>T c.(1723-1725)tcC>tcT p.S575S NUB1_ENST00000566856.1_Silent_p.S537S|WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000413040.2_Silent_p.S561S|NUB1_ENST00000355851.4_Silent_p.S551S Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 551 NEDD8-binding 2. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) CAGCCACGTCCCCTTCTGACT 0.612000 10 1 0 0 0.000673 0 0 FBN1 2200 broad.mit.edu 37 15 48812962 48812962 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:48812962G>T ENST00000316623.5 - 10 1496 c.1041C>A c.(1039-1041)aaC>aaA p.N347K NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 347 TB 2. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GTGGCAGCTGGTTAGAGCAGC 0.532000 13 34 1.15088e-07 1.86016e-07 0.004007 1 0 KCNB2 9312 broad.mit.edu 37 8 73480030 73480030 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:73480030C>T ENST00000523207.1 + 2 649 c.61C>T c.(61-63)Cct>Tct p.P21S NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 21 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACTTTCCCTTCCTCCAGAGCC 0.522000 51 58 0 0 0.003610 0 0 SMCR8 140775 broad.mit.edu 37 17 18220690 18220690 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:18220690C>T ENST00000406438.3 + 1 2067 c.1587C>T c.(1585-1587)atC>atT p.I529I NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 529 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 AGGCCCTCATCCCTGATGACT 0.537000 63 49 0 0 0.003610 0 0 PGD 5226 broad.mit.edu 37 1 10479520 10479520 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:10479520C>T ENST00000538557.1 + 12 1461 c.1217C>T c.(1216-1218)cCc>cTc p.P406L PGD_ENST00000270776.8_Missense_Mutation_p.P419L|PGD_ENST00000541529.1_Missense_Mutation_p.P397L|PGD_ENST00000498356.1_3'UTR P52209 6PGD_HUMAN phosphogluconate dehydrogenase 419 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) GCTGGCATTCCCATGCCCTGT 0.582000 24 40 0 0 0.002780 0 0 ZC3H4 23211 broad.mit.edu 37 19 47569796 47569796 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:47569796G>A ENST00000253048.5 - 15 3766 c.3729C>T c.(3727-3729)ccC>ccT p.P1243P ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1243 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CCCCGGGCTGGGGTGGGGCAC 0.701000 10 8 0 0 0.000673 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57994597 57994597 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57994597C>T ENST00000354947.5 + 8 833 c.817C>T c.(817-819)Cta>Tta p.L273L PIP4K2C_ENST00000422156.3_Silent_p.L225L|PIP4K2C_ENST00000550465.1_Silent_p.L255L|PIP4K2C_ENST00000540759.2_Silent_p.L273L Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 273 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) GTCTCAGTTTCTAGTGCAGCT 0.537000 69 877 0 0 0.003610 0 0 MYPN 84665 broad.mit.edu 37 10 69961688 69961688 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:69961688C>T ENST00000358913.5 + 18 4084 c.3596C>T c.(3595-3597)cCc>cTc p.P1199L MYPN_ENST00000354393.2_Missense_Mutation_p.P924L|MYPN_ENST00000540630.1_Missense_Mutation_p.P1199L NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 1199 Ig-like 5.|Interaction with ACTN. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 ATAGGCATGCCCCCACCTGTG 0.552000 27 97 0 0 0.004656 0 0 EYA1 2138 broad.mit.edu 37 8 72234092 72234092 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:72234092G>A ENST00000340726.3 - 6 934 c.295C>T c.(295-297)Cct>Tct p.P99S EYA1_ENST00000388741.2_Missense_Mutation_p.P65S|EYA1_ENST00000388740.3_Missense_Mutation_p.P66S|EYA1_ENST00000303824.7_Missense_Mutation_p.P98S|EYA1_ENST00000388742.4_Missense_Mutation_p.P99S|EYA1_ENST00000388743.2_Missense_Mutation_p.P98S|EYA1_ENST00000419131.1_Missense_Mutation_p.P99S NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 99 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GAAGGGGTAGGGAGAATATGT 0.453000 15 41 0 0 0.006122 0 0 OR1J1 347168 broad.mit.edu 37 9 125239572 125239572 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:125239572G>A ENST00000259357.2 - 1 663 c.634C>T c.(634-636)Ctg>Ttg p.L212L NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 AGGATGCACAGGAATGGAAGC 0.502000 22 39 0 0 0.006320 0 0 ZNF106 64397 broad.mit.edu 37 15 42742955 42742955 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:42742955G>A ENST00000263805.4 - 2 1772 c.1446C>T c.(1444-1446)tcC>tcT p.S482S ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 GTTCTCCAGGGGAAAAAAAAT 0.398000 60 112 0 0 0.003610 0 0 MCM7 4176 broad.mit.edu 37 7 99697317 99697317 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:99697317C>T ENST00000303887.5 - 3 816 c.171G>A c.(169-171)gaG>gaA p.E57E MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Silent_p.E57E NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 57 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CGGGGTCATCCTCGGCTACGT 0.557000 47 118 0 0 0.003610 0 0 SMG8 55181 broad.mit.edu 37 17 57288906 57288906 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:57288906C>T ENST00000543872.2 + 2 1758 c.1494C>T c.(1492-1494)aaC>aaT p.N498N SMG8_ENST00000300917.5_Silent_p.N498N|SMG8_ENST00000578922.1_Silent_p.N498N|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 498 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TCTCAGAAAACCGATGCCAAA 0.423000 8 37 0 0 0.003080 0 0 KALRN 8997 broad.mit.edu 37 3 124351444 124351444 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:124351444G>A ENST00000360013.3 + 35 5481 c.5354G>A c.(5353-5355)gGa>gAa p.G1785E KALRN_ENST00000428018.2_Missense_Mutation_p.G88E|KALRN_ENST00000393496.1_Missense_Mutation_p.G158E|KALRN_ENST00000291478.4_Missense_Mutation_p.G88E NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1785 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AAGGCAGATGGAAACATCAAA 0.552000 30 82 0 0 0.001786 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169131 50169131 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:50169131C>T ENST00000246785.3 + 1 309 c.51C>T c.(49-51)ttC>ttT p.F17F BCL2L12_ENST00000441864.2_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F17F NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 17 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) TTTTGGGTTTCCGGCCAGAGG 0.572000 14 47 0 0 0.002450 0 0 DPEP2 64174 broad.mit.edu 37 16 68025810 68025810 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:68025810G>A ENST00000412757.2 - 6 1258 c.593C>T c.(592-594)tCc>tTc p.S198F DPEP2_ENST00000393847.1_Missense_Mutation_p.S198F|DPEP2_ENST00000572888.1_Missense_Mutation_p.S198F Q9H4A9 DPEP2_HUMAN dipeptidase 2 198 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) AGGTAAGATGGAGAGGCTATT 0.572000 23 41 0 0 0.003330 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152614 50152614 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:50152614C>T ENST00000284509.6 - 28 3497 c.3356G>A c.(3355-3357)cGg>cAg p.R1119Q ATP8B4_ENST00000559829.1_Missense_Mutation_p.R1119Q NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1119 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CCTGCGGGTCCGAGGCCTTCG 0.498000 24 49 0 0 0.002299 0 0 MEF2BNB-MEF2B 4207 broad.mit.edu 37 19 19261560 19261560 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:19261560G>A ENST00000514819.3 - 3 182 c.36C>T c.(34-36)tcC>tcT p.S12S MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000410050.1_5'UTR|MEF2B_ENST00000409447.2_5'UTR|MEF2B_ENST00000409224.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_5'UTR|MEF2B_ENST00000162023.5_5'UTR|MEF2B_ENST00000602424.2_5'UTR|MEF2B_ENST00000424583.2_5'UTR breast(1)|haematopoietic_and_lymphoid_tissue(11)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 17 CAGGCTGAGTGGAATGATCTT 0.577000 12 54 0 0 0.001855 0 0 CYP2C18 1562 broad.mit.edu 37 10 96443650 96443650 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:96443650G>A ENST00000285979.6 + 1 273 c.74G>A c.(73-75)gGa>gAa p.G25E CYP2C18_ENST00000339022.5_Missense_Mutation_p.G25E NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) CAGAGCTCTGGAAGAGGGAGG 0.483000 35 21 0 0 0.003755 0 0 DNM3 26052 broad.mit.edu 37 1 172002338 172002338 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:172002338C>T ENST00000358155.4 + 6 958 c.782C>T c.(781-783)tCc>tTc p.S261F DNM3_ENST00000520906.1_Missense_Mutation_p.S261F|DNM3_ENST00000355305.5_Missense_Mutation_p.S261F|DNM3_ENST00000367733.2_Missense_Mutation_p.S261F|DNM3_ENST00000367731.1_Missense_Mutation_p.S261F NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 261 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TTTTTCCTTTCCCACCCGGCT 0.473000 7 21 0 0 0.001984 0 0 NOXO1 124056 broad.mit.edu 37 16 2029903 2029903 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:2029903G>A ENST00000354249.4 - 6 954 c.583_splice c.e6-1 p.G195_splice NOXO1_ENST00000566005.1_Splice_Site_p.G200_splice|NOXO1_ENST00000397280.4_Splice_Site_p.G201_splice|NOXO1_ENST00000356120.4_Splice_Site_p.G196_splice|TBL3_ENST00000568546.1_3'UTR NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2 NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1 Q8NFA2 NOXO1_HUMAN NADPH oxidase organizer 1 201 SH3 1. cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst NADPH oxidase complex enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity lung(2) 2 CCAGCCACCAGCCTGTGCGCA 0.687000 6 1 0 0 0.001984 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555120 44555120 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:44555120G>A ENST00000330682.2 - 1 1329 c.1094C>T c.(1093-1095)cCc>cTc p.P365L KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 365 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 TTCCAGAACGGGTTCAAGAAC 0.607000 21 832 0 0 0.003330 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26238260 26238260 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:26238260C>T ENST00000519902.1 - 0 1688 TCCTCAGATTCGGAGTCACTG 0.413000 29 28 0 0 0.001512 0 0 PNISR 25957 broad.mit.edu 37 6 99856122 99856122 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:99856122G>A ENST00000369239.5 - 7 903 c.699C>T c.(697-699)ccC>ccT p.P233P PNISR_ENST00000438806.1_Silent_p.P233P NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 233 nuclear speck p.P233P(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 GAATCCAAGCGGGAAGAGTCC 0.363000 32 8 0 0 0.004289 0 0 C17orf67 339210 broad.mit.edu 37 17 54892321 54892321 + Missense_Mutation SNP G G A rs143175206 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:54892321G>A ENST00000397861.2 - 6 1344 c.65C>T c.(64-66)cCg>cTg p.P22L C17orf67_ENST00000397862.2_Missense_Mutation_p.P46L|C17orf67_ENST00000575658.1_Missense_Mutation_p.P46L Q0P5P2 CQ067_HUMAN chromosome 17 open reading frame 67 46 extracellular region NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 7 Breast(9;2.49e-06) TGTCAAAATCGGGGAGGTCTC 0.522000 64 246 0 0 0.003610 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756232 94756232 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:94756232C>T ENST00000554723.1 - 2 1237 c.819G>A c.(817-819)gtG>gtA p.V273V SERPINA10_ENST00000554173.1_Silent_p.V233V|SERPINA10_ENST00000261994.4_Silent_p.V233V|SERPINA10_ENST00000393096.1_Silent_p.V233V Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 233 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) AGATGTAATCCACAAGAATTA 0.413000 25 10 0 0 0.003330 0 0 FAM151A 338094 broad.mit.edu 37 1 55089042 55089042 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:55089042C>T ENST00000302250.2 - 1 187 c.27G>A c.(25-27)aaG>aaA p.K9K ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Silent_p.K9K NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 9 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 TGACCTGATTCTTTGATAACT 0.602000 40 68 0 0 0.003610 0 0 MGAM 8972 broad.mit.edu 37 7 141752100 141752100 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:141752100A>T ENST00000475668.2 + 25 2866 c.2812A>T c.(2812-2814)Att>Ttt p.I938F MGAM_ENST00000549489.2_Missense_Mutation_p.I938F O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 938 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACAGGTTGCCATTATCACAGA 0.358000 21 4 0 0 0.002299 0 0 SDK1 221935 broad.mit.edu 37 7 4008917 4008917 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:4008917C>T ENST00000404826.2 + 11 1714 c.1575C>T c.(1573-1575)gtC>gtT p.V525V SDK1_ENST00000389531.3_Silent_p.V525V NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 525 Ig-like C2-type 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GTGGCTCTGTCCGGATTCCTA 0.507000 116 597 0 0 0.003610 0 0 TMC1 117531 broad.mit.edu 37 9 75387345 75387345 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:75387345C>T ENST00000297784.5 + 13 1298 c.758C>T c.(757-759)tCc>tTc p.S253F TMC1_ENST00000396237.3_Missense_Mutation_p.S253F|TMC1_ENST00000340019.3_Missense_Mutation_p.S253F NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 253 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 GCACAATATTCCGTTCTCTTT 0.383000 39 85 0 0 0.002852 0 0 EXOC1 55763 broad.mit.edu 37 4 56768600 56768600 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:56768600C>T ENST00000381295.2 + 18 2776 c.2428C>T c.(2428-2430)Cgt>Tgt p.R810C EXOC1_ENST00000349598.6_Missense_Mutation_p.R795C|EXOC1_ENST00000346134.7_Missense_Mutation_p.R810C NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 810 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) ACAAGAACTTCGTAAAGTCAT 0.383000 18 32 0 0 0.001216 0 0 IDE 3416 broad.mit.edu 37 10 94247036 94247036 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:94247036G>A ENST00000265986.6 - 13 1629 c.1573C>T c.(1573-1575)Cct>Tct p.P525S IDE_ENST00000371581.5_5'UTR|IDE_ENST00000496903.1_5'UTR NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 525 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTCTTTGTAGGAAGTTTAAAT 0.328000 98 341 0 0 0.003610 0 0 COL28A1 340267 broad.mit.edu 37 7 7571422 7571422 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:7571422G>A ENST00000399429.3 - 3 378 c.238C>T c.(238-240)Caa>Taa p.Q80* NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 80 VWFA 1. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GGAGTCAATTGGAAAATCTTG 0.413000 14 114 0 0 0.004990 0 0 PRRC2B 84726 broad.mit.edu 37 9 134321978 134321978 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:134321978C>T ENST00000357304.4 + 6 859 c.804C>T c.(802-804)ttC>ttT p.F268F PRRC2B_ENST00000405995.1_Silent_p.F268F|PRRC2B_ENST00000458550.1_Silent_p.F268F NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 268 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CTTCACAGTTCATGGGAAATG 0.522000 21 18 0 0 0.001523 0 0 AGPAT3 56894 broad.mit.edu 37 21 45379681 45379681 + Missense_Mutation SNP C C T rs151002444 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45379681C>T ENST00000398063.2 + 2 611 c.119C>T c.(118-120)cCg>cTg p.P40L AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.P40L|AGPAT3_ENST00000398061.1_Missense_Mutation_p.P40L|AGPAT3_ENST00000327505.2_Missense_Mutation_p.P40L|AGPAT3_ENST00000546158.1_Missense_Mutation_p.P40L|AGPAT3_ENST00000291572.8_Missense_Mutation_p.P40L NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 40 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) GCGCTCTGGCCGGTCAGCAAG 0.647000 9 42 0 0 0.004482 0 0 TRAV8-1 28685 broad.mit.edu 37 14 22265546 22265546 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22265546G>A ENST00000390430.2 + 0 88 CTGGCCCCGAGGAGAATTTCC 0.502000 6 6 0 0 0.001984 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18680342 18680342 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:18680342C>T ENST00000380548.4 + 11 1508 c.1169C>T c.(1168-1170)tCc>tTc p.S390F ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S390F|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S373F|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S390F NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 390 TSP type-1 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GCGTGCTCCTCCTCGTGTGGG 0.597000 8 7 0 0 0.000673 0 0 ZNF595 152687 broad.mit.edu 37 4 60001 60001 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:60001G>A ENST00000509152.2 + 3 366 c.181G>A c.(181-183)Gag>Aag p.E61K ZNF595_ENST00000526473.2_Missense_Mutation_p.E61K|ZNF595_ENST00000339368.6_3'UTR zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GCAAATAAAAGAGCCCTGCAA 0.448000 7 124 0 0 0.003080 0 0 ICAM3 3385 broad.mit.edu 37 19 10446489 10446489 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:10446489C>T ENST00000589261.1 - 3 808 c.276G>A c.(274-276)gaG>gaA p.E92E ICAM3_ENST00000160262.5_Silent_p.E169E P32942 ICAM3_HUMAN intercellular adhesion molecule 3 169 Ig-like C2-type 1. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) CCTCCGCTGGCTCCTCCACTG 0.687000 6 10 0 0 0.001984 0 0 AMDHD2 51005 broad.mit.edu 37 16 2577965 2577965 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:2577965C>T ENST00000302956.4 + 5 701 c.607C>T c.(607-609)Cgt>Tgt p.R203C CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000293971.6_Missense_Mutation_p.R203C|AMDHD2_ENST00000413459.3_Missense_Mutation_p.R203C|AMDHD2_ENST00000565570.1_Intron Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 203 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 GCTGACGGCCCGTGGCATCTG 0.687000 5 9 0 0 0.000602 0 0 PABPC3 5042 broad.mit.edu 37 13 25671363 25671363 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:25671363C>T ENST00000281589.3 + 1 1064 c.1027C>T c.(1027-1029)Cca>Tca p.P343S NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 343 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TTTCTCCTCCCCAGAAGAAGC 0.463000 32 50 0 0 0.002096 0 0 USH2A 7399 broad.mit.edu 37 1 215847641 215847641 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:215847641G>A ENST00000366943.2 - 63 13998 c.13612C>T c.(13612-13614)Cca>Tca p.P4538S USH2A_ENST00000307340.3_Missense_Mutation_p.P4538S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4538 Fibronectin type-III 31. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGCAATTTTGGAGGTTCCATC 0.498000 HNSCC(13;0.011) 41 61 0 0 0.007835 0 0 MXRA8 54587 broad.mit.edu 37 1 1289286 1289286 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:1289286C>T ENST00000309212.6 - 9 1275 c.1245G>A c.(1243-1245)aaG>aaA p.K415K MXRA8_ENST00000342753.4_Silent_p.K314K|MXRA8_ENST00000445648.2_Silent_p.K421K NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 415 integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CCGCCCTCTCCTTCAGGATGT 0.652000 11 9 0 0 0.001855 0 0 C1orf94 84970 broad.mit.edu 37 1 34677895 34677895 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:34677895C>T ENST00000488417.1 + 6 1729 c.1609C>T c.(1609-1611)Cag>Tag p.Q537* C1orf94_ENST00000373374.3_Nonsense_Mutation_p.Q347* NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 347 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCCTTTTGTCCAGCCCAATTA 0.552000 8 24 0 0 0.004482 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153270486 153270486 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:153270486G>A ENST00000290722.1 - 7 1024 c.972C>T c.(970-972)tcC>tcT p.S324S NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 324 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCTGCCCAGGGGACAGGATGT 0.592000 142 72 0 0 0.003610 0 0 ZNF93 81931 broad.mit.edu 37 19 20045439 20045439 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:20045439C>T ENST00000343769.5 + 4 1703 c.1675C>T c.(1675-1677)Cat>Tat p.H559Y AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 559 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 TAAGATACTTCATACTGGAGA 0.363000 9 42 0 0 0.004482 0 0 ZNF616 90317 broad.mit.edu 37 19 52618571 52618571 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:52618571G>A ENST00000600228.1 - 4 2107 c.1846C>T c.(1846-1848)Cag>Tag p.Q616* ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) GTGGAGCCCTGATTAAAGGCT 0.433000 8 25 0 0 0.000978 0 0 CNGA2 1260 broad.mit.edu 37 X 150911103 150911103 + Missense_Mutation SNP G G A rs139084709 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:150911103G>A ENST00000329903.4 + 5 611 c.578G>A c.(577-579)cGa>cAa p.R193Q NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 193 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CTCTTCATCCGATTGCGCACA 0.512000 52 11 0 0 0.003610 0 0 WDR90 197335 broad.mit.edu 37 16 709106 709106 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:709106C>T ENST00000549091.1 + 25 3124 c.3032C>T c.(3031-3033)gCc>gTc p.A1011V WDR90_ENST00000293879.4_Missense_Mutation_p.A1011V NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1011 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) TTCCCCGGGGCCCCCCCAGCC 0.657000 13 54 0 0 0.004990 0 0 ANKRD12 23253 broad.mit.edu 37 18 9208710 9208710 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:9208710C>T ENST00000383440.2 + 4 548 c.291C>T c.(289-291)tcC>tcT p.S97S ANKRD12_ENST00000400020.3_Silent_p.S97S|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000262126.3_Silent_p.S120S NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 120 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ATAAGAAATCCACACCAGTTA 0.373000 29 8 0 0 0.006320 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107446620 107446620 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:107446620T>C ENST00000409382.3 - 5 1830 c.1220A>G c.(1219-1221)tAc>tGc p.Y407C ST6GAL2_ENST00000361686.4_Missense_Mutation_p.Y407C|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.Y407C NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 407 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 ATGAAGAATGTAAAATGGCTG 0.378000 23 60 0 0 0.001882 0 0 NGEF 25791 broad.mit.edu 37 2 233757668 233757668 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:233757668G>A ENST00000264051.3 - 7 1360 c.1082C>T c.(1081-1083)tCt>tTt p.S361F NGEF_ENST00000539537.1_Missense_Mutation_p.S84F|NGEF_ENST00000373552.4_Missense_Mutation_p.S269F NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 361 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GATGTAGACAGAGAAGTGGTC 0.567000 18 31 0 0 0.001523 0 0 CSMD3 114788 broad.mit.edu 37 8 113529299 113529299 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:113529299G>A ENST00000297405.5 - 28 4964 c.4720C>T c.(4720-4722)Cgg>Tgg p.R1574W CSMD3_ENST00000352409.3_Missense_Mutation_p.R1574W|CSMD3_ENST00000455883.2_Missense_Mutation_p.R1470W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R1534W NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1574 Sushi 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CAGAAGTACCGATTTTCTACC 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 39 0 0 0.002445 0 0 EPPK1 83481 broad.mit.edu 37 8 144940509 144940509 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:144940509G>A ENST00000525985.1 - 2 6984 c.6913C>T c.(6913-6915)Cgc>Tgc p.R2305C P58107 EPIPL_HUMAN epiplakin 1 2305 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTGACGGCGCGCTCGGCCGAC 0.697000 15 114 0 0 0.004990 0 0 SPRED2 200734 broad.mit.edu 37 2 65540704 65540704 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:65540704G>A ENST00000356388.4 - 6 1377 c.1188C>T c.(1186-1188)ccC>ccT p.P396P SPRED2_ENST00000443619.2_Silent_p.P393P NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 396 SPR. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 AGGCCCGAAGGGGCAGGTAAC 0.597000 11 30 0 0 0.000978 0 0 HOXC6 3223 broad.mit.edu 37 12 54423488 54423488 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:54423488G>A ENST00000394331.3 + 3 1914 c.204G>A c.(202-204)cgG>cgA p.R68R HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Silent_p.R150R NM_153693.3 NP_710160.1 P09630 HXC6_HUMAN homeobox C6 150 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCTACTCGCGGTACCAGACCC 0.597000 26 11 0 0 0.005443 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308886 140308886 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140308886G>A ENST00000253807.2 + 1 2409 c.2409G>A c.(2407-2409)ggG>ggA p.G803G PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Silent_p.G803G|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAGGAAAGGGGATCACGCTA 0.448000 86 24 0 0 0.003610 0 0 CLVS1 157807 broad.mit.edu 37 8 62371063 62371063 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:62371063G>A ENST00000519846.1 + 6 1411 c.939G>A c.(937-939)tcG>tcA p.S313S CLVS1_ENST00000325897.4_Silent_p.S313S|CLVS1_ENST00000518592.1_Silent_p.S34S Q8IUQ0 CLVS1_HUMAN clavesin 1 313 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ATACGTCCTCGAATCTGGAGA 0.493000 18 16 0 0 0.001523 0 0 KLK15 55554 broad.mit.edu 37 19 51330320 51330320 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:51330320C>T ENST00000326856.4 - 4 421 c.292G>A c.(292-294)Gaa>Aaa p.E98K KLK15_ENST00000416184.1_Missense_Mutation_p.E99K|KLK15_ENST00000301421.2_Missense_Mutation_p.E99K|KLK15_ENST00000596931.1_Missense_Mutation_p.E98K|KLK15_ENST00000598239.1_Missense_Mutation_p.E99K NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 99 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) CTGCGCGCTTCGTAGCGCGGG 0.667000 26 58 0 0 0.005443 0 0 HSD11B1L 374875 broad.mit.edu 37 19 5687364 5687364 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:5687364G>A ENST00000581521.1 + 8 955 c.480G>A c.(478-480)ctG>ctA p.L160L HSD11B1L_ENST00000411793.2_Silent_p.L26L|HSD11B1L_ENST00000581893.1_Silent_p.L26L|HSD11B1L_ENST00000583928.1_Silent_p.L26L|HSD11B1L_ENST00000581773.1_Silent_p.L160L|HSD11B1L_ENST00000342970.2_Silent_p.L73L|HSD11B1L_ENST00000577917.1_Silent_p.L79L|RPL36_ENST00000577222.1_Intron|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000423665.2_Silent_p.L160L|HSD11B1L_ENST00000301382.4_Silent_p.L79L|HSD11B1L_ENST00000339423.2_Silent_p.L160L|RPL36_ENST00000579649.1_Intron Q7Z5J1 DHI1L_HUMAN hydroxysteroid (11-beta) dehydrogenase 1-like 160 extracellular region binding|oxidoreductase activity AGGGCTCCCTGGTGGTGGTGT 0.697000 9 21 0 0 0.000978 0 0 FCGBP 8857 broad.mit.edu 37 19 40424184 40424184 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:40424184G>A ENST00000221347.6 - 4 2026 c.2019C>T c.(2017-2019)ctC>ctT p.L673L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 673 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCATGCCACAGAGTCGGTCGC 0.612000 47 152 0 0 0.003610 0 0 NCOR1 9611 broad.mit.edu 37 17 15968285 15968285 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:15968285G>A ENST00000268712.3 - 34 5257 c.5000C>T c.(4999-5001)cCa>cTa p.P1667L NCOR1_ENST00000395857.3_Missense_Mutation_p.P251L|NCOR1_ENST00000395851.1_Missense_Mutation_p.P1683L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1667 Interaction with C1D (By similarity).|Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGTTCCCCCTGGATGAGGCAC 0.423000 12 55 0 0 0.000978 0 0 OR6K6 128371 broad.mit.edu 37 1 158725577 158725577 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158725577G>A ENST00000368144.2 + 1 1068 c.972G>A c.(970-972)atG>atA p.M324I NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) ACAAGGACATGAAAGAGGCTA 0.453000 28 109 0 0 0.002445 0 0 G2E3 55632 broad.mit.edu 37 14 31084663 31084663 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:31084663C>T ENST00000206595.6 + 14 1936 c.1782C>T c.(1780-1782)atC>atT p.I594I G2E3_ENST00000438909.2_Silent_p.I548I|G2E3_ENST00000553504.1_Silent_p.I624I NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 594 HECT. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 CTGCAAAAATCCTTAGTGAGC 0.388000 46 61 0 0 0.003610 0 0 MLKL 197259 broad.mit.edu 37 16 74719433 74719433 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:74719433G>A ENST00000308807.7 - 5 1234 c.771C>T c.(769-771)ttC>ttT p.F257F MLKL_ENST00000306247.7_Intron NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 257 Protein kinase. ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TGGGAGATTCGAATTTCTTCA 0.398000 11 27 0 0 0.002450 0 0 CLEC7A 64581 broad.mit.edu 37 12 10277969 10277969 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:10277969G>A ENST00000353231.5 - 3 439 c.281C>T c.(280-282)tCc>tTc p.S94F CLEC7A_ENST00000298523.5_Missense_Mutation_p.S94F|CLEC7A_ENST00000396484.2_Missense_Mutation_p.S61F|CLEC7A_ENST00000533022.1_Missense_Mutation_p.S140F|CLEC7A_ENST00000304084.8_Missense_Mutation_p.S140F NM_022570.4 NP_072092.2 Q9BXN2 CLC7A_HUMAN C-type lectin domain family 7, member A 140 carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation cytoplasm|integral to membrane metal ion binding|MHC protein binding|sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 TCCATCCCAGGAATTTAGTGA 0.383000 39 23 0 0 0.002522 0 0 NR6A1 2649 broad.mit.edu 37 9 127298174 127298174 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:127298174G>A ENST00000487099.2 - 7 1219 c.1062C>T c.(1060-1062)tcC>tcT p.S354S NR6A1_ENST00000373584.3_Silent_p.S350S|NR6A1_ENST00000344523.4_Silent_p.S353S|NR6A1_ENST00000416460.2_Silent_p.S349S NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 354 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 GTTCTTCATCGGAGGGCGAGT 0.532000 31 100 0 0 0.003271 0 0 TEP1 7011 broad.mit.edu 37 14 20852304 20852304 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:20852304G>A ENST00000262715.5 - 24 3467 c.3427C>T c.(3427-3429)Cct>Tct p.P1143S TEP1_ENST00000556935.1_Missense_Mutation_p.P1035S NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1143 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGCCGGGCAGGACTCGGTGGC 0.642000 30 36 0 0 0.001512 0 0 SREBF1 6720 broad.mit.edu 37 17 17721617 17721617 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:17721617G>A ENST00000355815.4 - 7 1399 c.1230C>T c.(1228-1230)ctC>ctT p.L410L SREBF1_ENST00000261646.5_Silent_p.L380L|SREBF1_ENST00000435530.2_Silent_p.L380L|SREBF1_ENST00000395757.1_Silent_p.L126L|SREBF1_ENST00000338854.5_Silent_p.L380L NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 380 Interaction with LMNA (By similarity). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 TCTCCTGCTTGAGTTTCTGGT 0.542000 35 21 0 0 0.001951 0 0 SECISBP2 79048 broad.mit.edu 37 9 91961898 91961898 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:91961898C>T ENST00000375807.3 + 11 1608 c.1537C>T c.(1537-1539)Cca>Tca p.P513S SECISBP2_ENST00000339901.4_Missense_Mutation_p.P440S|SECISBP2_ENST00000534113.2_Missense_Mutation_p.P445S NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 513 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 CTCCAGCGCCCCACTGATGAA 0.557000 17 24 0 0 0.004990 0 0 HTR5A 3361 broad.mit.edu 37 7 154862937 154862937 + Missense_Mutation SNP G G A rs141719500 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:154862937G>A ENST00000287907.2 + 1 904 c.328G>A c.(328-330)Ggt>Agt p.G110S AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Missense_Mutation_p.P26L|AC093726.4_ENST00000395731.2_Missense_Mutation_p.P26L NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 110 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CTGGCAGCTAGGTCGGAGGCT 0.662000 16 42 0 0 0.004007 0 0 OR1D2 4991 broad.mit.edu 37 17 2995520 2995520 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:2995520C>T ENST00000331459.1 - 1 770 c.771G>A c.(769-771)atG>atA p.M257I NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 257 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 TTAGGTATACCATACAAAGTG 0.488000 14 54 0 0 0.003163 0 0 FOXN1 8456 broad.mit.edu 37 17 26861910 26861910 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:26861910G>A ENST00000226247.2 + 7 1350 c.1321G>A c.(1321-1323)Gac>Aac p.D441N FOXN1_ENST00000579795.1_Missense_Mutation_p.D441N NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 441 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CCCCCTGCAGGACCTACTTAT 0.657000 20 12 0 0 0.002299 0 0 QSOX1 5768 broad.mit.edu 37 1 180151443 180151443 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:180151443C>T ENST00000367602.3 + 6 815 c.741C>T c.(739-741)tcC>tcT p.S247S QSOX1_ENST00000367600.5_Silent_p.S247S O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 247 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 GCTCTGTCTCCCGAGTCCCCG 0.602000 107 57 0 0 0.003610 0 0 OR6K2 81448 broad.mit.edu 37 1 158670177 158670177 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158670177C>T ENST00000359610.2 - 1 309 c.266G>A c.(265-267)aGg>aAg p.R89K NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) GGAAATGCTCCTCTCACTAAG 0.458000 50 17 0 0 0.003610 0 0 CSMD1 64478 broad.mit.edu 37 8 2820090 2820090 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:2820090C>T ENST00000520002.1 - 62 10084 c.9529G>A c.(9529-9531)Gaa>Aaa p.E3177K CSMD1_ENST00000400186.3_Missense_Mutation_p.E3000K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E3000K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E3177K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E3176K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2999K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3177 Sushi 26. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAGAAGACTTCGGACTTATAG 0.522000 14 3 0 0 0.004007 0 0 CAND1 55832 broad.mit.edu 37 12 67696296 67696296 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:67696296C>T ENST00000545606.1 + 8 1631 c.1194C>T c.(1192-1194)taC>taT p.Y398Y NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 398 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TTCACGCATACCTTTCTCTTT 0.423000 16 167 0 0 0.004990 0 0 ALPK3 57538 broad.mit.edu 37 15 85407727 85407727 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:85407727C>T ENST00000258888.5 + 12 5327 c.5160C>T c.(5158-5160)acC>acT p.T1720T NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1720 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CATATGCTACCCTGGAGGAAG 0.542000 24 94 0 0 0.003954 0 0 LRP5 4041 broad.mit.edu 37 11 68154023 68154023 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:68154023G>A ENST00000294304.7 + 6 1361 c.1255G>A c.(1255-1257)Gat>Aat p.D419N NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 419 Beta-propeller 2. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CAACGACCCCGATGGCATCGC 0.652000 17 42 0 0 0.007413 0 0 PRPF4B 8899 broad.mit.edu 37 6 4032706 4032706 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:4032706A>G ENST00000337659.6 + 2 1055 c.955A>G c.(955-957)Act>Gct p.T319A PRPF4B_ENST00000538861.1_Missense_Mutation_p.T305A NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 319 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) ACGGTCTGAAACTGATAAAGA 0.413000 86 43 0 0 0.003610 0 0 EML5 161436 broad.mit.edu 37 14 89172638 89172638 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:89172638C>T ENST00000554922.1 - 11 2038 c.1790G>A c.(1789-1791)aGa>aAa p.R597K EML5_ENST00000352093.5_Missense_Mutation_p.R597K|EML5_ENST00000380664.5_Missense_Mutation_p.R597K NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 597 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TTTCAGTTTTCTTTCAGGAAT 0.393000 30 10 0 0 0.002836 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745589 140745589 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140745589C>T ENST00000518069.1 + 1 1692 c.1692C>T c.(1690-1692)taC>taT p.Y564Y PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATCCTGTACCCCGCCCTCC 0.617000 39 142 0 0 0.002222 0 0 OPA3 80207 broad.mit.edu 37 19 46032324 46032324 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:46032324G>A ENST00000323060.3 - 2 610 c.533C>T c.(532-534)tCc>tTc p.S178F NM_001017989.2 NP_001017989.2 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 177 response to stimulus|visual perception mitochondrion cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) CTATTTCTCGGACGCCGGCGC 0.662000 19 39 0 0 0.001216 0 0 HS3ST3A1 9955 broad.mit.edu 37 17 13400018 13400018 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:13400018G>A ENST00000284110.1 - 2 1514 c.717C>T c.(715-717)atC>atT p.I239I HS3ST3A1_ENST00000578576.1_Silent_p.I37I NM_006042.1 NP_006033.1 Q9Y663 HS3SA_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 239 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GCACCACCACGATGAGCTTGG 0.637000 14 96 0 0 0.001523 0 0 TTN 7273 broad.mit.edu 37 2 179396977 179396977 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179396977C>T ENST00000589042.1 - 358 104589 c.104365G>A c.(104365-104367)Gaa>Aaa p.E34789K TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25724K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25916K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33148K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25849K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32221K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33148 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGTCAAGTTCGCTTTTGTAT 0.438000 11 23 0 0 0.001368 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967459 142967459 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:142967459G>A ENST00000370494.1 + 1 287 c.257G>A c.(256-258)aGa>aAa p.R86K NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 86 acid-amino acid ligase activity p.R86I(2) breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) AAGTTGGAAAGAATAAGTTTA 0.403000 44 4 0 0 0.001951 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963876 73963876 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:73963876C>T ENST00000373468.1 - 3 1167 c.516G>A c.(514-516)agG>agA p.R172R KIAA2022_ENST00000055682.5_Silent_p.R172R Q5QGS0 K2022_HUMAN KIAA2022 172 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTTCATAATCCCTATTTAGAT 0.453000 23 2 0 0 0.004656 0 0 MICAL3 57553 broad.mit.edu 37 22 18389393 18389393 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:18389393G>A ENST00000441493.2 - 2 538 c.186C>T c.(184-186)gcC>gcT p.A62A MICAL3_ENST00000429452.1_Silent_p.A62A|MICAL3_ENST00000383094.3_Silent_p.A62A|MICAL3_ENST00000444520.1_Silent_p.A62A|MICAL3_ENST00000414725.2_Silent_p.A62A|MICAL3_ENST00000207726.7_Silent_p.A62A|MICAL3_ENST00000585038.1_Silent_p.A62A|MICAL3_ENST00000400561.2_Silent_p.A62A NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 62 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) AGAGGGCTTTGGCTTTCCAGT 0.493000 180 18 0 0 0.003610 0 0 BMX 660 broad.mit.edu 37 X 15534347 15534347 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:15534347G>A ENST00000357607.2 + 5 626 c.438G>A c.(436-438)tgG>tgA p.W146* BMX_ENST00000342014.6_Nonsense_Mutation_p.W146*|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Nonsense_Mutation_p.W146* P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 146 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) GTACCCTCTGGGAAGCATGTA 0.537000 71 14 0 0 0.003610 0 0 PPFIA2 8499 broad.mit.edu 37 12 81719572 81719572 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:81719572G>A ENST00000550584.2 - 21 2921 c.2626C>T c.(2626-2628)Cga>Tga p.R876* PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R858*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R443*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R93*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R723*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R876*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R858*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R777*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R876*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R802*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R876* NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 802 p.R876*(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TTTAGTCTTCGATCCTTCTCA 0.393000 25 4 0 0 0.004656 0 0 RANBP9 10048 broad.mit.edu 37 6 13632704 13632704 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:13632704G>A ENST00000011619.3 - 12 1903 c.1845C>T c.(1843-1845)gcC>gcT p.A615A NOL7_ENST00000474485.1_3'UTR|RANBP9_ENST00000469916.1_5'UTR|RANBP9_ENST00000539980.1_Silent_p.A386A NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 615 Interaction with FMR1. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) TTTCTATGGCGGCCTGACTTC 0.413000 96 72 0 0 0.003610 0 0 OR2M3 127062 broad.mit.edu 37 1 248366472 248366472 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248366472T>A ENST00000456743.1 + 1 141 c.103T>A c.(103-105)Ttt>Att p.F35I NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCTGGCCATCTTTTCAGTGGC 0.542000 64 237 0 0 0.003610 0 0 SYT10 341359 broad.mit.edu 37 12 33592443 33592443 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:33592443C>T ENST00000228567.3 - 1 311 c.15G>A c.(13-15)aaG>aaA p.K5K SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 5 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CTCCGTCCTCCTTGTGGAAAC 0.542000 47 131 0 0 0.003610 0 0 IL17B 27190 broad.mit.edu 37 5 148754100 148754100 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:148754100G>A ENST00000261796.3 - 3 425 c.375C>T c.(373-375)ggC>ggT p.G125G RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR NM_014443.2 NP_055258.1 Q9UHF5 IL17B_HUMAN interleukin 17B 125 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTCACACAGCCCAGACACA 0.667000 39 17 0 0 0.002222 0 0 TDP1 55775 broad.mit.edu 37 14 90458319 90458319 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:90458319C>A ENST00000335725.4 + 13 1675 c.1425C>A c.(1423-1425)tcC>tcA p.S475S TDP1_ENST00000357382.3_Silent_p.S236S|TDP1_ENST00000393454.2_Silent_p.S475S|TDP1_ENST00000393452.3_Silent_p.S475S|TDP1_ENST00000555880.1_Silent_p.S475S NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 475 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) GGCTGCATTCCTATTTTCAGT 0.308000 Repair of DNA-protein crosslinks 43 14 6.18754e-15 1.00644e-14 0.003610 1 0 RYR3 6263 broad.mit.edu 37 15 33603265 33603265 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:33603265G>A ENST00000389232.4 + 1 89 c.19G>A c.(19-21)Gga>Aga p.G7R RYR3_ENST00000415757.3_Missense_Mutation_p.G7R NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 7 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGGGGGAGAAGGAGGCGAGGA 0.741000 8 18 0 0 0.006214 0 0 ARID3A 1820 broad.mit.edu 37 19 971923 971923 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:971923C>T ENST00000263620.3 + 9 1967 c.1640C>T c.(1639-1641)cCc>cTc p.P547L NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 547 Important for cytoplasmic localization (By similarity). cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTCTGCTCCCAACAAAGGA 0.662000 24 63 0 0 0.005443 0 0 ARSA 410 broad.mit.edu 37 22 51065039 51065039 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:51065039G>A ENST00000547307.1 - 4 1233 c.828C>T c.(826-828)gtC>gtT p.V276V ARSA_ENST00000547805.1_Silent_p.V276V|ARSA_ENST00000395619.3_Silent_p.V278V|ARSA_ENST00000356098.5_Silent_p.V278V|ARSA_ENST00000216124.5_Silent_p.V278V|ARSA_ENST00000453344.2_Silent_p.V192V|ARSA_ENST00000395621.3_Silent_p.V278V P15289 ARSA_HUMAN arylsulfatase A 276 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) CAGTGAAGATGACCAGCGTCT 0.642000 42 18 0 0 0.006999 0 0 OXA1L 5018 broad.mit.edu 37 14 23235899 23235899 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:23235899C>T ENST00000285848.5 + 1 169 c.169C>T c.(169-171)Ctt>Ttt p.L57F OXA1L_ENST00000604262.1_5'UTR NM_005015.3 NP_005006.3 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 0 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) AGCAAGTCCTCTTCCGGGCAA 0.607000 93 84 0 0 0.003610 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471889 47471889 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:47471889C>T ENST00000266581.4 - 2 1363 c.897G>A c.(895-897)gaG>gaA p.E299E AMIGO2_ENST00000321382.3_Silent_p.E299E|AMIGO2_ENST00000550413.1_Silent_p.E299E|AMIGO2_ENST00000429635.1_Silent_p.E299E NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 299 Ig-like C2-type. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) CGACCTGAGCCTCATGAATAA 0.498000 95 65 0 0 0.003610 0 0 RAG1 5896 broad.mit.edu 37 11 36594953 36594953 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:36594953C>T ENST00000299440.5 + 2 211 c.99C>T c.(97-99)ttC>ttT p.F33F NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 33 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TTAAGCTGTTCCGGGTGAGAT 0.473000 Familial Hemophagocytic Lymphohistiocytosis 35 14 0 0 0.002836 0 0 PREX1 57580 broad.mit.edu 37 20 47262529 47262529 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:47262529G>A ENST00000396220.1 - 26 3394 c.3372C>T c.(3370-3372)gcC>gcT p.A1124A PREX1_ENST00000371941.3_Silent_p.A1124A Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1124 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCAGGGAGGAGGCCTCCTCAG 0.597000 42 42 0 0 0.002222 0 0 CCDC50 152137 broad.mit.edu 37 3 191075887 191075887 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:191075887C>T ENST00000392455.3 + 3 811 c.213C>T c.(211-213)gcC>gcT p.A71A CCDC50_ENST00000392456.3_Silent_p.A71A NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 71 cytoplasm protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) AAGCGCAGGCCCAGCTCCAGA 0.552000 51 45 0 0 0.003610 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49348843 49348843 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:49348843G>A ENST00000263265.6 - 15 2152 c.1597C>T c.(1597-1599)Cct>Tct p.P533S PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P508S NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 533 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GGGGACCTAGGGGAGCTCAGT 0.527000 29 23 0 0 0.006320 0 0 TTN 7273 broad.mit.edu 37 2 179432657 179432657 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179432657C>T ENST00000589042.1 - 326 78426 c.78202G>A c.(78202-78204)Gaa>Aaa p.E26068K TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17003K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17195K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24427K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17128K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23500K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24427 Ig-like 126. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAATATTTTCAGCATACACT 0.388000 53 82 0 0 0.003610 0 0 SERPINE3 647174 broad.mit.edu 37 13 51935993 51935993 + Missense_Mutation SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:51935993C>G ENST00000524365.1 + 10 1760 c.1135C>G c.(1135-1137)Cgg>Ggg p.R379G SERPINE3_ENST00000400389.4_Missense_Mutation_p.R379G|SERPINE3_ENST00000521255.1_Missense_Mutation_p.R379G|RP11-24B19.4_ENST00000602881.1_RNA A8MV23 SERP3_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 379 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 TAAAGCAGATCGGCCATTCAT 0.358000 8 19 0 0 0.004482 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370118 86370118 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:86370118G>A ENST00000400286.2 - 2 1124 c.526C>T c.(526-528)Cct>Tct p.P176S NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 176 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) ATGTTTGGAGGAAGACTCTCA 0.373000 19 49 0 0 0.001216 0 0 CDSN 1041 broad.mit.edu 37 6 31084447 31084447 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:31084447C>T ENST00000376288.2 - 2 971 c.945G>A c.(943-945)aaG>aaA p.K315K PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 315 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 AGATTTTACCCTTACTGTAGG 0.552000 40 17 0 0 0.002222 0 0 ZNF518A 9849 broad.mit.edu 37 10 97917321 97917321 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:97917321C>T ENST00000534948.1 + 0 2099 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) GTTCAGGTTTCATGAAGACTG 0.413000 35 24 0 0 0.003755 0 0 STIM2 57620 broad.mit.edu 37 4 27019467 27019467 + Missense_Mutation SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:27019467C>G ENST00000382009.3 + 12 2176 c.1909C>G c.(1909-1911)Cgg>Ggg p.R637G STIM2_ENST00000237364.5_Missense_Mutation_p.R629G|STIM2_ENST00000412829.2_Missense_Mutation_p.R629G|STIM2_ENST00000465503.1_Missense_Mutation_p.R550G|STIM2_ENST00000467011.1_Missense_Mutation_p.R542G|STIM2_ENST00000467087.1_Missense_Mutation_p.R542G NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 542 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) GTCACACCCTCGGCACCCTCA 0.607000 56 73 0 0 0.003610 0 0 NOTCH4 4855 broad.mit.edu 37 6 32187468 32187468 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32187468G>T ENST00000375023.3 - 8 1549 c.1411C>A c.(1411-1413)Cgt>Agt p.R471S NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 471 EGF-like 11; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.R471S(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GCCTCACAACGGGAGCCTGTG 0.622000 8 572 0.000442599 0.000711061 0.006214 1 0 FAM83F 113828 broad.mit.edu 37 22 40417616 40417616 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:40417616G>A ENST00000333407.5 + 4 1196 c.1102G>A c.(1102-1104)Gcc>Acc p.A368T FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 368 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TGGCGAGTCGGCCTGGCGCCT 0.711000 32 4 0 0 0.003755 0 0 GEMIN6 79833 broad.mit.edu 37 2 39009027 39009027 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:39009027C>T ENST00000281950.2 + 3 613 c.497C>T c.(496-498)tCc>tTc p.S166F GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR NM_024775.9 NP_079051.9 Q8WXD5 GEMI6_HUMAN gem (nuclear organelle) associated protein 6 166 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding kidney(1)|large_intestine(3)|pancreas(1) 5 all_hematologic(82;0.21) CTTACAGCTTCCCAATGAGAG 0.383000 20 59 0 0 0.001523 0 0 OR1J2 26740 broad.mit.edu 37 9 125273186 125273186 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:125273186C>T ENST00000335302.5 + 1 106 c.106C>T c.(106-108)Ctg>Ttg p.L36L NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 GGGCATGTACCTGACCACGGT 0.597000 31 106 0 0 0.002096 0 0 MYO1A 4640 broad.mit.edu 37 12 57423650 57423650 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57423650G>A ENST00000442789.2 - 26 2885 c.2598C>T c.(2596-2598)ccC>ccT p.P866P MYO1A_ENST00000544473.1_Silent_p.P704P|MYO1A_ENST00000300119.3_Silent_p.P866P NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 866 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AGAATGGAATGGGGACACTGA 0.622000 15 161 0 0 0.004007 0 0 HRC 3270 broad.mit.edu 37 19 49657807 49657807 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:49657807C>T ENST00000252825.4 - 1 874 c.688G>A c.(688-690)Gga>Aga p.G230R HRC_ENST00000595625.1_Missense_Mutation_p.G230R NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 230 4 X tandem repeats, acidic.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) TGATGGTGTCCATCTGAGACA 0.537000 8 17 0 0 0.003080 0 0 DUT 1854 broad.mit.edu 37 15 48633604 48633604 + Missense_Mutation SNP G G C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:48633604G>C ENST00000559540.1 + 4 453 c.411G>C c.(409-411)caG>caC p.Q137H DUT_ENST00000455976.2_Intron|DUT_ENST00000558813.1_Intron|DUT_ENST00000559935.1_Intron|DUT_ENST00000331200.3_Intron|DUT_ENST00000559416.1_Intron P33316 DUT_HUMAN deoxyuridine triphosphatase 0 DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process mitochondrion|nucleoplasm dUTP diphosphatase activity|protein binding kidney(2) 2 all_lung(180;0.00265) all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07) TGAATTTTCAGAGTCATGTAT 0.284000 Modulation of nucleotide pools 10 13 0 0 0.000673 0 0 IGHV1-58 28464 broad.mit.edu 37 14 107078526 107078526 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:107078526C>T ENST00000390628.2 - 0 258 TCCATCCTATCCACTCAAGGC 0.527000 44 13 0 0 0.002852 0 0 UGT2B10 7365 broad.mit.edu 37 4 69693259 69693259 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:69693259G>A ENST00000265403.7 + 5 1327 c.1300G>A c.(1300-1302)Gat>Aat p.D434N UGT2B10_ENST00000458688.2_Missense_Mutation_p.D350N NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 434 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.D434Y(2) endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 AGTAATTAATGATCCTTCGTG 0.383000 24 49 0 0 0.001786 0 0 PCLO 27445 broad.mit.edu 37 7 82545000 82545000 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:82545000G>A ENST00000423517.2 - 7 12639 c.12302C>T c.(12301-12303)tCc>tTc p.S4101F PCLO_ENST00000437081.1_Missense_Mutation_p.S821F|PCLO_ENST00000333891.8_Missense_Mutation_p.S4101F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4032 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAATCTAGAGGAAGACTGTAA 0.438000 9 27 0 0 0.006214 0 0 BMP6 654 broad.mit.edu 37 6 7727831 7727831 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:7727831G>A ENST00000283147.6 + 1 802 c.643G>A c.(643-645)Gtc>Atc p.V215I NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 215 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) CGCGGACATGGTCATGAGCTT 0.622000 8 27 0 0 0.000673 0 0 A2ML1 144568 broad.mit.edu 37 12 9008104 9008104 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:9008104G>A ENST00000299698.7 + 23 2944 c.e23-1 A2ML1_ENST00000539547.1_Splice_Site NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GCATCTCACAGGAAAGGTGGC 0.443000 12 55 0 0 0.002450 0 0 ZNF121 7675 broad.mit.edu 37 19 9677277 9677277 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9677277G>A ENST00000586602.1 - 6 928 c.512C>T c.(511-513)cCc>cTc p.P171L ZNF121_ENST00000320451.6_Missense_Mutation_p.P171L P58317 ZN121_HUMAN zinc finger protein 121 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 24 ACATTCATAGGGTTTCTCCCC 0.363000 35 18 0 0 0.004289 0 0 TAOK2 9344 broad.mit.edu 37 16 29999291 29999291 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:29999291C>T ENST00000308893.4 + 16 4741 c.3698C>T c.(3697-3699)cCc>cTc p.P1233L TAOK2_ENST00000416441.2_Missense_Mutation_p.P1060L|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.P1120L NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1233 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GCCCTGCCCCCCTGGAGGTAG 0.652000 7 6 0 0 0.004482 0 0 SYNE1 23345 broad.mit.edu 37 6 152631048 152631048 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:152631048G>A ENST00000367255.5 - 90 17725 c.17124C>T c.(17122-17124)ctC>ctT p.L5708L SYNE1_ENST00000341594.5_Silent_p.L5320L|SYNE1_ENST00000356820.4_Silent_p.L232L|SYNE1_ENST00000265368.4_Silent_p.L5708L|SYNE1_ENST00000448038.1_Silent_p.L5637L|SYNE1_ENST00000423061.1_Silent_p.L5637L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5708 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAGCATGACAGAGAGGTAAGC 0.607000 HNSCC(10;0.0054) 27 10 0 0 0.006320 0 0 A2ML1 144568 broad.mit.edu 37 12 8988120 8988120 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:8988120G>A ENST00000299698.7 + 6 681 c.501G>A c.(499-501)agG>agA p.R167R NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 11 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 ATAGCAACAGGATTGCACAGT 0.512000 6 52 0 0 0.001984 0 0 HK1 3098 broad.mit.edu 37 10 71119753 71119753 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:71119753C>T ENST00000448642.2 + 8 821 c.432C>T c.(430-432)tcC>tcT p.S144S HK1_ENST00000298649.3_Silent_p.S108S|HK1_ENST00000359426.6_Silent_p.S109S|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.S113S|HK1_ENST00000360289.2_Silent_p.S97S P19367 HXK1_HUMAN hexokinase 1 109 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 ACATGGAGTCCGAGGTTTATG 0.547000 15 31 0 0 0.004007 0 0 PGAP1 80055 broad.mit.edu 37 2 197777618 197777618 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:197777618G>A ENST00000354764.3 - 4 751 c.637C>T c.(637-639)Cgt>Tgt p.R213C PGAP1_ENST00000409188.1_Missense_Mutation_p.R171C|PGAP1_ENST00000409475.1_Missense_Mutation_p.R213C|PGAP1_ENST00000485830.1_5'UTR NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 213 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 GTAATGAAACGATCTAATGGC 0.368000 11 19 0 0 0.001368 0 0 MYH8 4626 broad.mit.edu 37 17 10304883 10304883 + Missense_Mutation SNP C C T rs1140933 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10304883C>T ENST00000403437.2 - 23 3002 c.2908G>A c.(2908-2910)Gag>Aag p.E970K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 970 E -> Q (in Ref. 1 and 4). muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GCATGTTTCTCCTTCTCAACC 0.408000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 121 83 0 0 0.003610 0 0 KIAA1109 84162 broad.mit.edu 37 4 123274229 123274229 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:123274229C>T ENST00000264501.4 + 81 14393 c.14020C>T c.(14020-14022)Cgt>Tgt p.R4674C KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4674C Q2LD37 K1109_HUMAN KIAA1109 4674 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCCAAATTTTCGTTCAAAATC 0.368000 20 26 0 0 0.001523 0 0 TENM2 57451 broad.mit.edu 37 5 167553802 167553802 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:167553802G>A ENST00000519204.1 + 11 2008 c.1890G>A c.(1888-1890)ggG>ggA p.G630G TENM2_ENST00000518659.1_Silent_p.G751G|TENM2_ENST00000520394.1_Silent_p.G519G|TENM2_ENST00000403607.2_Silent_p.G584G|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Silent_p.G751G teneurin transmembrane protein 2 TCTGCATCGGGGGAGCCTGCC 0.572000 6 14 0 0 0.004482 0 0 C6orf25 80739 broad.mit.edu 37 6 31691594 31691594 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:31691594C>T ENST00000375809.3 + 2 251 c.240C>T c.(238-240)ttC>ttT p.F80F C6orf25_ENST00000375805.2_Silent_p.F80F|C6orf25_ENST00000375810.4_Silent_p.F80F|C6orf25_ENST00000480039.1_Silent_p.F80F NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 80 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TCCAGCCTTTCGTCGGCCGCC 0.687000 160 318 0 0 0.003610 0 0 VWF 7450 broad.mit.edu 37 12 6101035 6101035 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:6101035G>A ENST00000261405.5 - 38 7002 c.6748C>T c.(6748-6750)Cct>Tct p.P2250S NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2250 E2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCCTCTTCAGGGACACAGCTG 0.592000 23 12 0 0 0.003330 0 0 ULK2 9706 broad.mit.edu 37 17 19699438 19699438 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:19699438G>A ENST00000395544.4 - 19 2466 c.1967C>T c.(1966-1968)gCc>gTc p.A656V ULK2_ENST00000361658.2_Missense_Mutation_p.A656V NM_014683.3 NP_055498.3 Q8IYT8 ULK2_HUMAN unc-51 like autophagy activating kinase 2 656 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) CTGCTGCTCGGCCCGCTGCCT 0.458000 15 58 0 0 0.007413 0 0 WDR90 197335 broad.mit.edu 37 16 709107 709107 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:709107C>T ENST00000549091.1 + 25 3125 c.3033C>T c.(3031-3033)gcC>gcT p.A1011A WDR90_ENST00000293879.4_Silent_p.A1011A NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1011 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) TCCCCGGGGCCCCCCCAGCCT 0.662000 12 53 0 0 0.004007 0 0 BMP15 9210 broad.mit.edu 37 X 50659191 50659191 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:50659191G>A ENST00000252677.3 + 2 763 c.763G>A c.(763-765)Gag>Aag p.E255K NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 255 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) GGGCATGGAGGAGTTCATGGA 0.463000 26 5 0 0 0.003330 0 0 FAT3 120114 broad.mit.edu 37 11 92087720 92087720 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:92087720G>A ENST00000298047.6 + 1 2459 c.2442G>A c.(2440-2442)tgG>tgA p.W814* FAT3_ENST00000409404.2_Nonsense_Mutation_p.W814*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.W664*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.W814* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 814 Cadherin 7. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AATCGTCATGGAGACTGCTGA 0.413000 TCGA Ovarian(4;0.039) 303 251 0 0 0.003610 0 0 COL5A1 1289 broad.mit.edu 37 9 137582856 137582856 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:137582856G>A ENST00000371817.3 + 2 622 c.208G>A c.(208-210)Ggc>Agc p.G70S COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 70 TSP N-terminal. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ATCTTCCAAAGGCCCGGATGT 0.552000 12 40 0 0 0.000978 0 0 MAP2K7 5609 broad.mit.edu 37 19 7976345 7976345 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:7976345C>T ENST00000545011.1 + 9 1152 c.1087C>T c.(1087-1089)Ccc>Tcc p.P363S MAP2K7_ENST00000397979.3_Missense_Mutation_p.P321S|MAP2K7_ENST00000397983.3_Missense_Mutation_p.P337S|MAP2K7_ENST00000397981.3_Missense_Mutation_p.P328S O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 321 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) AGGACAGTTTCCCTACAAGAA 0.602000 23 11 0 0 0.006320 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590025 140590025 + Missense_Mutation SNP C C T rs141554375 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140590025C>T ENST00000239450.2 + 1 1735 c.1546C>T c.(1546-1548)Ctc>Ttc p.L516F PCDHB12_ENST00000541609.1_Missense_Mutation_p.L179F NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 516 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGTTTGCCCTCAGGTCGCT 0.687000 68 81 0 0 0.003610 0 0 TMEM8A 58986 broad.mit.edu 37 16 426736 426736 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:426736G>A ENST00000431232.2 - 5 872 c.712C>T c.(712-714)Ccc>Tcc p.P238S TMEM8A_ENST00000250930.3_Missense_Mutation_p.P45S NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 238 cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 AGACGCACGGGGCAGCCCAGG 0.687000 10 18 0 0 0.006214 0 0 PREX2 80243 broad.mit.edu 37 8 68984784 68984784 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:68984784G>A ENST00000288368.4 + 14 1825 c.1548G>A c.(1546-1548)ctG>ctA p.L516L PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 516 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.L516L(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CCAACAAACTGATAGACTGGT 0.323000 34 33 0 0 0.006999 0 0 RRAD 6236 broad.mit.edu 37 16 66957429 66957429 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:66957429G>A ENST00000299759.6 - 4 889 c.639C>T c.(637-639)gtC>gtT p.V213V RRAD_ENST00000420652.1_Silent_p.V213V P55042 RAD_HUMAN Ras-related associated with diabetes 213 small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) CATCCACCGAGACCTCACGAG 0.632000 16 44 0 0 0.004007 0 0 TDRKH 11022 broad.mit.edu 37 1 151749052 151749052 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:151749052G>A ENST00000368822.1 - 7 1540 c.907C>T c.(907-909)Cat>Tat p.H303Y TDRKH_ENST00000368823.1_Missense_Mutation_p.H299Y|TDRKH_ENST00000458431.2_Missense_Mutation_p.H303Y|TDRKH_ENST00000440583.2_Missense_Mutation_p.H79Y|TDRKH_ENST00000368825.3_Missense_Mutation_p.H258Y|TDRKH_ENST00000368827.6_Missense_Mutation_p.H303Y|TDRKH_ENST00000368824.3_Missense_Mutation_p.H303Y Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 303 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCATCAGCATGAAAACTGAAG 0.498000 43 28 0 0 0.003214 0 0 EFHB 151651 broad.mit.edu 37 3 19959780 19959780 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:19959780C>T ENST00000295824.9 - 4 1282 c.1121G>A c.(1120-1122)gGa>gAa p.G374E EFHB_ENST00000344838.4_Missense_Mutation_p.G244E|EFHB_ENST00000498089.1_5'UTR NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 374 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 TTTTGGTAATCCTGGTGCTTG 0.373000 214 201 0 0 0.003610 0 0 OR1N2 138882 broad.mit.edu 37 9 125315494 125315494 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:125315494G>A ENST00000373688.2 + 1 104 c.46G>A c.(46-48)Gga>Aga p.G16R NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 ACAAGGGATGGGAAAACCAGG 0.448000 25 51 0 0 0.005443 0 0 STXBP5L 9515 broad.mit.edu 37 3 120673881 120673881 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:120673881G>A ENST00000273666.6 + 3 555 c.284G>A c.(283-285)cGa>cAa p.R95Q STXBP5L_ENST00000492541.1_Missense_Mutation_p.R95Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R95Q|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R95Q|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R95Q NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 95 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GGTGCTATACGAATGTATCCT 0.358000 14 37 0 0 0.001855 0 0 NOVA1 4857 broad.mit.edu 37 14 26917328 26917328 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:26917328C>T ENST00000539517.2 - 5 1678 c.1361G>A c.(1360-1362)aGg>aAg p.R454K NOVA1_ENST00000465357.2_Missense_Mutation_p.R430K|NOVA1_ENST00000267422.7_Missense_Mutation_p.R332K NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 457 KH 3. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GATCTGTATCCTTGCACCAGT 0.433000 25 14 0 0 0.003330 0 0 TRPM2 7226 broad.mit.edu 37 21 45811262 45811262 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45811262G>A ENST00000397928.1 + 11 1993 c.1548G>A c.(1546-1548)tgG>tgA p.W516* TRPM2_ENST00000397932.2_Nonsense_Mutation_p.W516*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.W516*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.W516* NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 516 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TTGTCACCTGGGACACCTTGC 0.587000 19 111 0 0 0.007413 0 0 SPG7 6687 broad.mit.edu 37 16 89619491 89619491 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:89619491G>A ENST00000268704.2 + 14 1899 c.1884G>A c.(1882-1884)atG>atA p.M628I NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 628 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GGATGTGCATGGCCCTGGGAG 0.622000 10 13 0 0 0.000978 0 0 COL9A3 1299 broad.mit.edu 37 20 61461890 61461890 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:61461890G>A ENST00000343916.3 + 24 1240 c.1237G>A c.(1237-1239)Gac>Aac p.D413N NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 413 Triple-helical region 3 (COL3). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) CAGCATGGGAGACCCCGGCCT 0.697000 12 17 0 0 0.004990 0 0 SULT1B1 27284 broad.mit.edu 37 4 70599185 70599185 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:70599185C>T ENST00000310613.2 - 6 840 c.543G>A c.(541-543)tgG>tgA p.W181* NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 181 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 CCTTTTTCTTCCACCAGTTTT 0.323000 32 63 0 0 0.002096 0 0 PRPF4B 8899 broad.mit.edu 37 6 4032432 4032432 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:4032432C>T ENST00000337659.6 + 2 781 c.681C>T c.(679-681)tcC>tcT p.S227S PRPF4B_ENST00000538861.1_Silent_p.S213S NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 227 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) AAAGCCCATCCAAAAGAAGTA 0.388000 193 78 0 0 0.003610 0 0 MARK1 4139 broad.mit.edu 37 1 220826519 220826519 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:220826519C>T ENST00000402574.1 + 16 2410 c.1408C>T c.(1408-1410)Ccc>Tcc p.P470S MARK1_ENST00000366918.4_Missense_Mutation_p.P583S|MARK1_ENST00000366917.4_Missense_Mutation_p.P605S NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 605 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) GACCCGTTTTCCCCGAGGGAG 0.537000 19 80 0 0 0.007413 0 0 ASXL2 55252 broad.mit.edu 37 2 25965968 25965968 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:25965968G>A ENST00000435504.4 - 13 3531 c.3238C>T c.(3238-3240)Ctc>Ttc p.L1080F ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.L1052F Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 1080 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAACTGAGAGAAGATTCTGC 0.507000 26 67 0 0 0.004656 0 0 RPL15 6138 broad.mit.edu 37 3 23960057 23960057 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:23960057C>T ENST00000307839.5 + 3 938 c.299C>T c.(298-300)tCc>tTc p.S100F RPL15_ENST00000415719.1_Missense_Mutation_p.S100F|RPL15_ENST00000456530.2_Missense_Mutation_p.S100F|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000354811.5_Missense_Mutation_p.S100F|RPL15_ENST00000413699.1_Missense_Mutation_p.S100F|RPL15_ENST00000435882.1_Missense_Mutation_p.S100F NM_001253379.1|NM_001253380.1|NM_002948.3 NP_001240308.1|NP_001240309.1|NP_002939.2 P61313 RL15_HUMAN ribosomal protein L15 100 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 AGCCTTCAGTCCGTTGCAGAG 0.483000 51 49 0 0 0.003610 0 0 CEP164 22897 broad.mit.edu 37 11 117242073 117242073 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:117242073C>T ENST00000278935.3 + 9 1190 c.1043C>T c.(1042-1044)cCa>cTa p.P348L CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 348 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus p.P348Q(1) breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AAGGAAGCACCAGAGGACACA 0.537000 36 14 0 0 0.003271 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519652 113519652 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:113519652C>T ENST00000284601.3 - 4 1563 c.1495G>A c.(1495-1497)Gaa>Aaa p.E499K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 499 glycogen metabolic process integral to membrane p.E499Q(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TCTGTTGATTCTTTGAGACAT 0.318000 12 41 0 0 0.000978 0 0 MRPS27 23107 broad.mit.edu 37 5 71519533 71519533 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:71519533G>A ENST00000261413.5 - 10 1021 c.982C>T c.(982-984)Cct>Tct p.P328S MRPS27_ENST00000513900.1_Missense_Mutation_p.P342S|MRPS27_ENST00000457646.4_Missense_Mutation_p.P272S NM_015084.2 NP_055899.2 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 328 mitochondrion|ribosome breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) AGGTATTGAGGAAGCTTGGAC 0.468000 55 67 0 0 0.003610 0 0 ITGA1 3672 broad.mit.edu 37 5 52183790 52183790 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:52183790C>T ENST00000282588.6 + 8 1375 c.917C>T c.(916-918)tCc>tTc p.S306F NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 306 VWFA. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) CAACGGTTTTCCATAGCTGTA 0.393000 6 49 0 0 0.001984 0 0 SPINK5 11005 broad.mit.edu 37 5 147505148 147505148 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:147505148C>T ENST00000359874.3 + 29 2874 c.2801C>T c.(2800-2802)tCc>tTc p.S934F SPINK5_ENST00000256084.7_Intron NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 914 Kazal-like 14. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGGCGTTCCTTGGCCTCT 0.448000 11 40 0 0 0.000673 0 0 SDR42E1 93517 broad.mit.edu 37 16 82034428 82034428 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:82034428G>A ENST00000328945.5 - 2 163 c.36C>T c.(34-36)ctC>ctT p.L12L SDR42E1_ENST00000534209.1_5'UTR NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 12 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 CTCCTGTAATGAGGACACTTT 0.378000 7 42 0 0 0.004482 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717156 142717156 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:142717156G>A ENST00000381779.4 - 2 1994 c.1769C>T c.(1768-1770)cCa>cTa p.P590L SLITRK4_ENST00000356928.1_Missense_Mutation_p.P590L|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P590L NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 590 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) GCTTGTGAATGGTGCAGACGG 0.448000 28 43 0 0 0.007291 0 0 JAK3 3718 broad.mit.edu 37 19 17940955 17940955 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:17940955C>T ENST00000458235.1 - 23 3268 c.3169G>A c.(3169-3171)Ggc>Agc p.G1057S JAK3_ENST00000527670.1_Missense_Mutation_p.G1057S|JAK3_ENST00000534444.1_Missense_Mutation_p.G1057S NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 1057 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 AGCCTCTGGCCCTCCTCCAGC 0.667000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 8 2 0 0 0.000978 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367392 105367392 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:105367392G>A ENST00000297581.2 + 3 1366 c.1317G>A c.(1315-1317)cgG>cgA p.R439R DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 439 osteoclast differentiation cell surface|integral to membrane|plasma membrane TCAAAAGACGGCTGAGTCTCT 0.478000 28 24 0 0 0.001512 0 0 MYH7 4625 broad.mit.edu 37 14 23884991 23884991 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:23884991C>T ENST00000355349.3 - 35 5166 c.5004G>A c.(5002-5004)aaG>aaA p.K1668K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1668 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CGATGTTCTCCTTCAGGTCGT 0.627000 24 26 0 0 0.003330 0 0 AUTS2 26053 broad.mit.edu 37 7 70231110 70231110 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:70231110C>T ENST00000342771.4 + 9 1800 c.1479C>T c.(1477-1479)atC>atT p.I493I AUTS2_ENST00000406775.2_Silent_p.I493I NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 493 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) AGCAAGACATCTTGCGACAGG 0.582000 29 61 0 0 0.002096 0 0 OR5W2 390148 broad.mit.edu 37 11 55681306 55681306 + Silent SNP G G A rs142170371 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:55681306G>A ENST00000344514.1 - 1 752 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F251F(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GAGTTCCCTGGAAAATTGCAA 0.423000 33 40 0 0 0.006999 0 0 PLB1 151056 broad.mit.edu 37 2 28828728 28828728 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:28828728C>T ENST00000422425.2 + 41 2981 c.2937C>T c.(2935-2937)ctC>ctT p.L979L PLB1_ENST00000327757.5_Silent_p.L990L|PLB1_ENST00000541605.1_Intron NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 990 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) AGGATGGGCTCCCAGATACGT 0.532000 54 146 0 0 0.003610 0 0 RASGRP4 115727 broad.mit.edu 37 19 38903659 38903659 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:38903659G>A ENST00000454404.2 - 12 1558 c.1345C>T c.(1345-1347)Cga>Tga p.R449* RASGRP4_ENST00000587753.1_Nonsense_Mutation_p.R414*|RASGRP4_ENST00000587738.1_Nonsense_Mutation_p.R483*|RASGRP4_ENST00000293062.9_Nonsense_Mutation_p.R386*|RASGRP4_ENST00000586305.1_Nonsense_Mutation_p.R469*|RASGRP4_ENST00000426920.2_Nonsense_Mutation_p.R294*|RASGRP4_ENST00000433821.2_Nonsense_Mutation_p.R391* NM_001146205.1|NM_170604.2 NP_001139677.1|NP_733749.1 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 483 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) ATTGTTCCTCGGCCTTCAGGG 0.542000 20 63 0 0 0.001216 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873624 48873624 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:48873624G>A ENST00000394754.1 + 8 2647 c.2533G>A c.(2533-2535)Gtg>Atg p.V845M GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V845M|LHCGR_ENST00000420913.3_5'UTR|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V845M|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V798M|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V107M|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.V141M|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V845M NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 798 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ACCAATTATGGTGACAGAGAC 0.358000 13 41 0 0 0.004007 0 0 TRANK1 9881 broad.mit.edu 37 3 36875372 36875372 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:36875372G>A ENST00000301807.6 - 21 5817 c.3920C>T c.(3919-3921)tCc>tTc p.S1307F TRANK1_ENST00000428977.2_Missense_Mutation_p.S1307F|TRANK1_ENST00000429976.2_Missense_Mutation_p.S1857F NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1857 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GGAGAGCTTGGAAATGGGAAG 0.413000 19 48 0 0 0.007413 0 0 CLPTM1 1209 broad.mit.edu 37 19 45495974 45495974 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:45495974C>T ENST00000541297.2 + 14 2252 c.1787C>T c.(1786-1788)cCc>cTc p.P596L CLPTM1_ENST00000337392.5_Missense_Mutation_p.P610L|CLPTM1_ENST00000546079.1_Missense_Mutation_p.P508L O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 610 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) GCTGCCGCCCCCGTGGCCGAG 0.657000 89 237 0 0 0.003610 0 0 BEST3 144453 broad.mit.edu 37 12 70065290 70065290 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:70065290C>T ENST00000330891.5 - 9 1244 c.1018G>A c.(1018-1020)Gat>Aat p.D340N BEST3_ENST00000553096.1_Missense_Mutation_p.D234N|BEST3_ENST00000488961.1_Missense_Mutation_p.D127N|BEST3_ENST00000476098.1_Missense_Mutation_p.D127N|BEST3_ENST00000331471.4_Missense_Mutation_p.D340N NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 340 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GCAGCAGAATCGTCCCAGTAA 0.428000 21 190 0 0 0.001523 0 0 CALCR 799 broad.mit.edu 37 7 93090138 93090138 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:93090138C>T ENST00000359558.2 - 10 1044 c.745G>A c.(745-747)Gac>Aac p.D249N CALCR_ENST00000421592.1_Missense_Mutation_p.D231N|CALCR_ENST00000360249.4_Missense_Mutation_p.D231N|CALCR_ENST00000426151.1_Missense_Mutation_p.D215N|CALCR_ENST00000394441.1_Missense_Mutation_p.D215N NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 231 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CTTACCGGGTCCCTTCGCACG 0.383000 101 8 0 0 0.003610 0 0 XRCC6BP1 91419 broad.mit.edu 37 12 58345576 58345576 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:58345576C>T ENST00000300145.3 + 4 476 c.351C>T c.(349-351)gcC>gcT p.A117A XRCC6BP1_ENST00000546709.1_3'UTR NM_033276.2 NP_150592.1 Q9Y6H3 ATP23_HUMAN XRCC6 binding protein 1 117 double-strand break repair via nonhomologous end joining DNA-dependent protein kinase-DNA ligase 4 complex DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 11 ATAATCAGGCCCATATGAACA 0.418000 30 499 0 0 0.002445 0 0 MACROD2 140733 broad.mit.edu 37 20 16030510 16030510 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:16030510G>A ENST00000217246.4 + 17 1662 c.1267G>A c.(1267-1269)Gga>Aga p.G423R MACROD2_ENST00000310348.4_Missense_Mutation_p.G446R|MACROD2_ENST00000402914.1_Missense_Mutation_p.G211R|MACROD2_ENST00000378058.3_Missense_Mutation_p.G211R|MACROD2_ENST00000407045.3_Missense_Mutation_p.G96R NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 446 breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) ACAAAGAAATGGAACTAAATG 0.512000 7 27 0 0 0.006214 0 0 CMTM2 146225 broad.mit.edu 37 16 66620900 66620900 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:66620900G>A ENST00000268595.2 + 3 596 c.444_splice c.e3-1 p.D149_splice CMTM2_ENST00000379486.2_Splice_Site_p.D96_splice NM_144673.2 NP_653274.1 Q8TAZ6 CKLF2_HUMAN CKLF-like MARVEL transmembrane domain containing 2 149 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) CCACCTTCAGGACCTCTTCAA 0.512000 16 47 0 0 0.007413 0 0 TIFAB 497189 broad.mit.edu 37 5 134785608 134785608 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:134785608G>A ENST00000537858.1 - 2 222 c.22C>T c.(22-24)Ctg>Ttg p.L8L NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 8 breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTCACTCGCAGGACGGTGAGG 0.607000 57 36 0 0 0.003610 0 0 DMXL2 23312 broad.mit.edu 37 15 51742477 51742477 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:51742477G>A ENST00000251076.5 - 42 9037 c.8750C>T c.(8749-8751)tCg>tTg p.S2917L DMXL2_ENST00000449909.3_Missense_Mutation_p.S2281L|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.S2918L NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2917 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CCTACCCCCCGAGATTAGGAG 0.488000 43 77 0 0 0.003610 0 0 KRT2 3849 broad.mit.edu 37 12 53045694 53045694 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:53045694C>T ENST00000309680.3 - 1 254 c.233G>A c.(232-234)gGa>gAa p.G78E NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 78 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) accacctcctccagccacACT 0.632000 11 37 0 0 0.000673 0 0 SYT13 57586 broad.mit.edu 37 11 45274136 45274136 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:45274136G>A ENST00000020926.3 - 4 793 c.682C>T c.(682-684)Ccc>Tcc p.P228S NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 228 C2 1. transport vesicle p.P228T(1) breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 TCCGCCAGGGGGAGCACCAGG 0.682000 OREG0020928 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 13 0 0 0.002096 0 0 LAMA3 3909 broad.mit.edu 37 18 21395432 21395432 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:21395432G>A ENST00000313654.9 + 17 2183 c.1941_splice c.e17-1 p.G648_splice LAMA3_ENST00000399516.3_Splice_Site_p.G648_splice NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 648 Domain V.|Laminin EGF-like 7. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTTCTGCAGGGAGATGGTGA 0.423000 21 47 0 0 0.002299 0 0 OR4M2 390538 broad.mit.edu 37 15 22369378 22369378 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:22369378C>T ENST00000332663.2 + 1 901 c.803C>T c.(802-804)tCc>tTc p.S268F RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S268F(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GACTCGTTTTCCCTAGATAAA 0.423000 38 89 0 0 0.004878 0 0 PRB4 5545 broad.mit.edu 37 12 11461537 11461537 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:11461537C>T ENST00000279575.1 - 3 413 c.380G>A c.(379-381)gGa>gAa p.G127E PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.G127E NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 190 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in allele M and allele S). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 CTGGTTGCCTCCTTGTGGGGG 0.602000 HNSCC(22;0.051) 6 138 0 0 0.004482 0 0 FIBIN 387758 broad.mit.edu 37 11 27016309 27016309 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:27016309C>T ENST00000318627.2 + 1 682 c.236C>T c.(235-237)aCc>aTc p.T79I NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 79 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 CTGAGCCTCACCCTGCGGGAG 0.652000 8 5 0 0 0.003080 0 0 PDX1 3651 broad.mit.edu 37 13 28498598 28498598 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:28498598G>A ENST00000381033.4 + 2 731 c.612G>A c.(610-612)gaG>gaA p.E204E NM_000209.3 NP_000200.1 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 204 detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) GGAAAAAGGAGGAGGACAAGA 0.647000 62 144 0 0 0.003610 0 0 OR5K3 403277 broad.mit.edu 37 3 98110187 98110187 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:98110187G>A ENST00000383695.1 + 1 678 c.678G>A c.(676-678)atG>atA p.M226I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 TATTTACAATGAAATCCAAGG 0.343000 12 65 0 0 0.000978 0 0 AKAP3 10566 broad.mit.edu 37 12 4737380 4737380 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:4737380G>A ENST00000545990.2 - 5 1212 c.688C>T c.(688-690)Cca>Tca p.P230S AKAP3_ENST00000228850.1_Missense_Mutation_p.P230S NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 230 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TTGTCATCTGGACCCTGTCTT 0.448000 24 59 0 0 0.005443 0 0 CRB2 286204 broad.mit.edu 37 9 126133596 126133596 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:126133596C>T ENST00000373631.3 + 8 2176 c.2175C>T c.(2173-2175)ctC>ctT p.L725L CRB2_ENST00000359999.3_Silent_p.L725L|CRB2_ENST00000373629.2_Silent_p.L393L NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 725 Laminin G-like 2. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 ATGATGGGCTCCGTCACCTGG 0.667000 28 81 0 0 0.001512 0 0 SVEP1 79987 broad.mit.edu 37 9 113241924 113241924 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:113241924C>T ENST00000401783.2 - 13 2814 c.2478G>A c.(2476-2478)ctG>ctA p.L826L SVEP1_ENST00000374469.1_Silent_p.L803L|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.L826L|SVEP1_ENST00000374461.1_Silent_p.L803L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 826 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCATTTTTCCCAGGGTCGTCT 0.388000 68 118 0 0 0.003610 0 0 FAM120A 23196 broad.mit.edu 37 9 96261096 96261096 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:96261096C>T ENST00000277165.6 + 5 1152 c.958C>T c.(958-960)Cga>Tga p.R320* FAM120A_ENST00000333936.5_Nonsense_Mutation_p.R320*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.R320*|FAM120A_ENST00000375389.3_Nonsense_Mutation_p.R320* NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 320 cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CAAAGTTATTCGATTTAAGAG 0.333000 47 65 0 0 0.003610 0 0 NRCAM 4897 broad.mit.edu 37 7 107807505 107807505 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:107807505C>T ENST00000379028.3 - 30 3797 c.3327G>A c.(3325-3327)tgG>tgA p.W1109* NRCAM_ENST00000379022.4_Nonsense_Mutation_p.W1109*|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000425651.2_Nonsense_Mutation_p.W1109*|NRCAM_ENST00000351718.4_Intron Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1109 Fibronectin type-III 5. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TTTCTTTTCTCCATTCTTCTT 0.378000 29 3 0 0 0.001786 0 0 DNAH3 55567 broad.mit.edu 37 16 20975658 20975658 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:20975658G>A ENST00000261383.3 - 53 9547 c.9548C>T c.(9547-9549)cCa>cTa p.P3183L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3183 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GGCAACTTCTGGGAGGTAATG 0.478000 36 35 0 0 0.003755 0 0 MUC17 140453 broad.mit.edu 37 7 100678579 100678579 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100678579G>A ENST00000306151.4 + 3 3946 c.3882G>A c.(3880-3882)gaG>gaA p.E1294E NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1294 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCAGTCCTGAGGCTAGCACCC 0.483000 7 712 0 0 0.005443 0 0 ALPK2 115701 broad.mit.edu 37 18 56203321 56203321 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:56203321C>T ENST00000361673.3 - 5 4311 c.4098G>A c.(4096-4098)aaG>aaA p.K1366K RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1366 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TAACATTTTCCTTCCCTCCAG 0.453000 62 42 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9080501 9080501 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9080501C>T ENST00000397910.4 - 2 9733 c.9530G>A c.(9529-9531)gGa>gAa p.G3177E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3178 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A3175fs*111(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CGTGGAATTTCCTTGTGCTGC 0.498000 38 85 0 0 0.003610 0 0 DNAJC16 23341 broad.mit.edu 37 1 15874796 15874796 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:15874796C>T ENST00000375847.3 + 7 1060 c.896C>T c.(895-897)tCa>tTa p.S299L DNAJC16_ENST00000375849.1_Missense_Mutation_p.S299L|DNAJC16_ENST00000375838.1_Missense_Mutation_p.S299L NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 299 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GATTATTTATCATTTGGATAT 0.383000 18 25 0 0 0.004990 0 0 AKAP9 10142 broad.mit.edu 37 7 91730219 91730219 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:91730219C>T ENST00000359028.2 + 45 11183 c.10958C>T c.(10957-10959)gCc>gTc p.A3653V AKAP9_ENST00000358100.2_Missense_Mutation_p.A3599V|AKAP9_ENST00000356239.3_Missense_Mutation_p.A3649V Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3653 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GCCATCATTGCCTCTGAAAAA 0.403000 T BRAF papillary thyroid 35 114 0 0 0.002222 0 0 OR2M3 127062 broad.mit.edu 37 1 248366471 248366471 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248366471C>T ENST00000456743.1 + 1 140 c.102C>T c.(100-102)atC>atT p.I34I NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCCTGGCCATCTTTTCAGTGG 0.542000 61 239 0 0 0.003610 0 0 TTC7A 57217 broad.mit.edu 37 2 47221609 47221609 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:47221609C>T ENST00000319190.5 + 7 1325 c.957C>T c.(955-957)ttC>ttT p.F319F TTC7A_ENST00000394850.2_Silent_p.F319F|TTC7A_ENST00000409245.1_Silent_p.F285F|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_3'UTR NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 319 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) AGAGTTCTTTCGCCACTCAGG 0.597000 33 67 0 0 0.002096 0 0 SLC6A14 11254 broad.mit.edu 37 X 115585494 115585494 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:115585494G>A ENST00000371900.4 + 10 1378 c.1290G>A c.(1288-1290)acG>acA p.T430T NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 430 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CTGAAGAAACGATCACAACAA 0.348000 27 5 0 0 0.004656 0 0 CNPY3 10695 broad.mit.edu 37 6 42906465 42906465 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:42906465C>T ENST00000372836.4 + 6 1144 c.773C>T c.(772-774)cCc>cTc p.P258L CNPY3_ENST00000394142.3_3'UTR NM_006586.3 NP_006577.2 Q9BT09 CNPY3_HUMAN canopy FGF signaling regulator 3 258 Saposin B-type. innate immune response endoplasmic reticulum central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1) 6 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) GACCCCAGCCCCGAGGAGGAT 0.612000 33 5 0 0 0.002222 0 0 NR2E3 10002 broad.mit.edu 37 15 72104678 72104678 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:72104678G>A ENST00000398840.2 + 0 764 Q9Y5X4 NR2E3_HUMAN nuclear receptor subfamily 2, group E, member 3 phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|endometrium(1)|lung(1) 3 TCCAACAGCTGATGAGAATAT 0.597000 24 92 0 0 0.005443 0 0 COL21A1 81578 broad.mit.edu 37 6 55922555 55922555 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:55922555C>T ENST00000244728.5 - 30 3171 c.2774G>A c.(2773-2775)gGa>gAa p.G925E COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G922E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G925E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G291E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 925 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CCCTTGGATTCCAGGTTTTCC 0.517000 5 16 0 0 0.000602 0 0 CDHR2 54825 broad.mit.edu 37 5 176011704 176011704 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176011704C>T ENST00000510636.1 + 19 2696 c.2422C>T c.(2422-2424)Ctg>Ttg p.L808L CDHR2_ENST00000506348.1_Silent_p.L808L|CDHR2_ENST00000261944.5_Silent_p.L808L NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 808 Cadherin 7. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TCCCCCCACCCTGGATGTAGC 0.597000 20 117 0 0 0.001523 0 0 MAP4K3 8491 broad.mit.edu 37 2 39505596 39505596 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:39505596C>A ENST00000263881.3 - 24 2070 c.1746G>T c.(1744-1746)ggG>ggT p.G582G MAP4K3_ENST00000341681.5_Silent_p.G561G|MAP4K3_ENST00000437545.1_Silent_p.G498G|MAP4K3_ENST00000536018.1_Silent_p.G135G NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 582 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) GGGTATAAATCCCTTCTTCGG 0.254000 10 37 1.08611e-07 1.7559e-07 0.000978 1 0 CEP350 9857 broad.mit.edu 37 1 180062207 180062207 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:180062207C>T ENST00000367607.3 + 34 7385 c.6967C>T c.(6967-6969)Cat>Tat p.H2323Y CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2323 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TGAAAATCTCCATAAAAGTGA 0.343000 12 14 0 0 0.001855 0 0 CYP2E1 1571 broad.mit.edu 37 10 135345187 135345187 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:135345187C>T ENST00000463117.2 + 5 708 c.436C>T c.(436-438)Cgg>Tgg p.R146W CYP2E1_ENST00000252945.3_Missense_Mutation_p.R146W|CYP2E1_ENST00000480558.1_3'UTR|SPRN_ENST00000541506.1_Intron P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 146 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) CAATGAGAGCCGGATCCAGAG 0.567000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 28 29 0 0 0.006320 0 0 CHD3 1107 broad.mit.edu 37 17 7798840 7798840 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7798840T>C ENST00000380358.4 + 10 1865 c.1864T>C c.(1864-1866)Tcc>Ccc p.S622P CHD3_ENST00000330494.7_Missense_Mutation_p.S563P|CHD3_ENST00000358181.4_Missense_Mutation_p.S563P NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 563 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CTGGCACTGCTCCTGGGCCAA 0.537000 15 69 0 0 0.004007 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178553072 178553072 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:178553072C>T ENST00000251582.7 - 18 2778 c.2677G>A c.(2677-2679)Ggc>Agc p.G893S NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 893 TSP type-1 2. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GCACAGAAGCCACGGTGTACC 0.652000 14 107 0 0 0.004007 0 0 ZNF852 285346 broad.mit.edu 37 3 44541327 44541327 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:44541327G>A ENST00000436261.1 - 4 1102 c.942C>T c.(940-942)ctC>ctT p.L314L ZNF852_ENST00000489411.1_5'UTR B6EU87 B6EU87_HUMAN zinc finger protein 852 314 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|lung(5) 8 GATGGTCAATGAGATTTCTAT 0.413000 10 26 0 0 0.001855 0 0 PSPC1 55269 broad.mit.edu 37 13 20279827 20279827 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:20279827G>A ENST00000338910.4 - 8 1520 c.1361C>T c.(1360-1362)cCa>cTa p.P454L NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 454 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TGGCATCATTGGAGTTCCCAT 0.413000 10 27 0 0 0.000978 0 0 ITPKC 80271 broad.mit.edu 37 19 41245435 41245435 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:41245435C>T ENST00000263370.2 + 7 2055 c.2022C>T c.(2020-2022)atC>atT p.I674I NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 674 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ACAACATGATCTGCCTCCTGC 0.642000 7 9 0 0 0.003080 0 0 PUS7L 83448 broad.mit.edu 37 12 44148400 44148400 + Missense_Mutation SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:44148400C>G ENST00000416848.2 - 2 1137 c.649G>C c.(649-651)Gac>Cac p.D217H PUS7L_ENST00000553166.1_Missense_Mutation_p.D217H|PUS7L_ENST00000551923.1_Missense_Mutation_p.D217H|PUS7L_ENST00000344862.5_Missense_Mutation_p.D217H|PUS7L_ENST00000431332.3_Intron NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 217 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TTAAAAAAGTCAAATGCTTCC 0.299000 16 79 0 0 0.003163 0 0 CD74 972 broad.mit.edu 37 5 149792262 149792262 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:149792262C>T ENST00000353334.6 - 1 230 c.51G>A c.(49-51)atG>atA p.M17I CD74_ENST00000377795.3_Missense_Mutation_p.M17I|CD74_ENST00000009530.7_Missense_Mutation_p.M17I|CD74_ENST00000524315.1_Missense_Mutation_p.M17I NM_001025159.2|NM_004355.3 NP_001020330.1|NP_004346.1 P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain 17 antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTGGTCATCCATGACTGGCT 0.617000 T ROS1 NSCLC 36 181 0 0 0.002222 0 0 UROC1 131669 broad.mit.edu 37 3 126220104 126220104 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:126220104C>T ENST00000290868.2 - 10 975 c.922G>A c.(922-924)Gag>Aag p.E308K UROC1_ENST00000383579.3_Missense_Mutation_p.E368K NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 308 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CTGAGCACCTCCTTTTTTTTC 0.587000 94 73 0 0 0.003610 0 0 CR2 1380 broad.mit.edu 37 1 207643161 207643161 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:207643161G>A ENST00000367057.3 + 6 1128 c.939G>A c.(937-939)gtG>gtA p.V313V CR2_ENST00000367058.3_Silent_p.V313V|CR2_ENST00000367059.3_Silent_p.V313V|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Silent_p.V313V NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 313 Sushi 5. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 AGGAAGGAGTGAACTTCATCC 0.483000 6 38 0 0 0.003080 0 0 ALDH3A1 218 broad.mit.edu 37 17 19646600 19646600 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:19646600G>A ENST00000457500.2 - 2 668 c.339C>T c.(337-339)acC>acT p.T113T ALDH3A1_ENST00000444455.1_Silent_p.T113T|ALDH3A1_ENST00000395555.3_Silent_p.T113T|ALDH3A1_ENST00000225740.6_Silent_p.T113T|ALDH3A1_ENST00000494157.2_Silent_p.T40T|ALDH3A1_ENST00000485231.1_5'UTR NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 113 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) GGTAGTTCCAGGTGCCAATGA 0.657000 18 20 0 0 0.007413 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724818 38724818 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:38724818G>A ENST00000342213.2 - 1 756 c.410C>T c.(409-411)tCc>tTc p.S137F NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 137 C-type lectin. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CGCGGTGCAGGAGCGTTGGGG 0.687000 6 19 0 0 0.001168 0 0 COLEC12 81035 broad.mit.edu 37 18 335150 335150 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:335150C>T ENST00000400256.3 - 6 1615 c.1408G>A c.(1408-1410)Gga>Aga p.G470R NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 470 Collagen-like 1. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CCCTTCTCTCCTTTCTGTCCC 0.617000 28 6 0 0 0.006320 0 0 ACOT11 26027 broad.mit.edu 37 1 55050413 55050413 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:55050413G>A ENST00000371316.3 + 2 201 c.119G>A c.(118-120)gGa>gAa p.G40E ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.G40E NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 40 Acyl coenzyme A hydrolase 1. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 GACGGCGAGGGATACCGGAAC 0.632000 5 17 0 0 0.000602 0 0 HRNR 388697 broad.mit.edu 37 1 152191892 152191892 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:152191892C>T ENST00000368801.2 - 3 2288 c.2213G>A c.(2212-2214)aGg>aAg p.R738K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 738 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGTTCACTCCTAGATGACTG 0.557000 51 193 0 0 0.003610 0 0 DDC 1644 broad.mit.edu 37 7 50531040 50531040 + Silent SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:50531040A>G ENST00000444124.2 - 14 1532 c.1332T>C c.(1330-1332)ttT>ttC p.F444F DDC_ENST00000357936.5_Silent_p.F444F|DDC_ENST00000426377.1_Silent_p.F366F|DDC_ENST00000431062.1_Silent_p.F351F NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 444 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) AGCGCAGGACAAACTTGTCCC 0.527000 18 64 0 0 0.006122 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79730011 79730011 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:79730011C>T ENST00000338008.5 + 2 225 c.45C>T c.(43-45)ctC>ctT p.L15L ZFYVE16_ENST00000510158.1_Silent_p.L15L|ZFYVE16_ENST00000505560.1_Silent_p.L15L NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 15 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TGGACAAACTCCTTGATGATT 0.333000 86 36 0 0 0.003610 0 0 PXDNL 137902 broad.mit.edu 37 8 52370068 52370068 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:52370068G>A ENST00000356297.4 - 9 1072 c.972C>T c.(970-972)tcC>tcT p.S324S PXDNL_ENST00000543296.1_Silent_p.S324S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 324 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTGGAAGACTGGAGTATCTGA 0.413000 24 33 0 0 0.002780 0 0 FREM2 341640 broad.mit.edu 37 13 39263123 39263123 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:39263123C>T ENST00000280481.7 + 1 1858 c.1642C>T c.(1642-1644)Ctg>Ttg p.L548L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 548 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGTACAGTTTCTGTTCCCCAT 0.592000 5 7 0 0 0.000602 0 0 JAK3 3718 broad.mit.edu 37 19 17940954 17940954 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:17940954C>T ENST00000458235.1 - 23 3269 c.3170G>A c.(3169-3171)gGc>gAc p.G1057D JAK3_ENST00000527670.1_Missense_Mutation_p.G1057D|JAK3_ENST00000534444.1_Missense_Mutation_p.G1057D NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 1057 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 CAGCCTCTGGCCCTCCTCCAG 0.667000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 8 2 0 0 0.000978 0 0 VGLL1 51442 broad.mit.edu 37 X 135618348 135618348 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:135618348G>A ENST00000370634.3 + 2 339 c.169G>A c.(169-171)Gaa>Aaa p.E57K NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) GAGCCCCCAGGAATTGACCCC 0.537000 29 34 0 0 0.002445 0 0 TRIP10 9322 broad.mit.edu 37 19 6744928 6744928 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:6744928C>T ENST00000600428.1 + 9 1229 c.583C>T c.(583-585)Ccc>Tcc p.P195S TRIP10_ENST00000313244.9_Missense_Mutation_p.P303S|TRIP10_ENST00000313285.8_Missense_Mutation_p.P303S|TRIP10_ENST00000596758.1_Missense_Mutation_p.P303S Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 303 Induction of membrane tubulation. actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 TCTGGGCACCCCCTCGGATGG 0.652000 35 24 0 0 0.002445 0 0 LRRC34 151827 broad.mit.edu 37 3 169525424 169525424 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:169525424C>T ENST00000522526.2 - 3 768 c.331G>A c.(331-333)Gat>Aat p.D111N LRRC34_ENST00000446859.1_Missense_Mutation_p.D111N|LRRC34_ENST00000522830.1_Missense_Mutation_p.D50N|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000316515.7_Missense_Mutation_p.D98N Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 98 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2) 10 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) ATCCAAAAATCTTCACCTGTA 0.303000 12 55 0 0 0.003163 0 0 ACAA1 30 broad.mit.edu 37 3 38169315 38169315 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:38169315C>T ENST00000333167.8 - 7 760 c.588G>A c.(586-588)cgG>cgA p.R196R ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000544624.1_Silent_p.R44R|ACAA1_ENST00000301810.7_Silent_p.R163R|ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000450296.1_Silent_p.R155R NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 196 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) CCTGCTTCTCCCGTGAAATGC 0.502000 14 52 0 0 0.004007 0 0 FAM83E 54854 broad.mit.edu 37 19 49106982 49106982 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:49106982G>A ENST00000263266.3 - 4 1134 c.945C>T c.(943-945)tcC>tcT p.S315S NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 315 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) AGCGGCGGCGGGACACGCGGT 0.801000 5 0 0 0 0.000602 0 0 KCNK9 51305 broad.mit.edu 37 8 140631316 140631316 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:140631316C>T ENST00000520439.1 - 2 373 c.310G>A c.(310-312)Gat>Aat p.D104N KCNK9_ENST00000303015.1_Missense_Mutation_p.D104N Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 104 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TTGCCCGCATCGGTGCCAGGT 0.612000 9 7 0 0 0.006214 0 0 E2F2 1870 broad.mit.edu 37 1 23847473 23847473 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:23847473G>A ENST00000361729.2 - 4 1095 c.669C>T c.(667-669)gcC>gcT p.A223A NM_004091.3 NP_004082.1 Q14209 E2F2_HUMAN E2F transcription factor 2 223 Dimerization (Potential). G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) GCTGGTCCAAGGCCTGCTCCG 0.577000 17 22 0 0 0.006122 0 0 GAA 2548 broad.mit.edu 37 17 78084763 78084763 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:78084763C>T ENST00000302262.3 + 11 1794 c.1575C>T c.(1573-1575)ttC>ttT p.F525F GAA_ENST00000390015.3_Silent_p.F525F NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 525 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CTTCCAACTTCATCAGGGGCT 0.602000 22 39 0 0 0.003330 0 0 TMEM57 55219 broad.mit.edu 37 1 25824876 25824876 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:25824876C>T ENST00000374343.4 + 11 2093 c.1914C>T c.(1912-1914)ccC>ccT p.P638P TMEM57_ENST00000399763.3_Silent_p.P280P|TMEM57_ENST00000399766.3_Silent_p.P411P NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 638 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) CTGTTTCCCCCCACTACTCTT 0.537000 34 39 0 0 0.003271 0 0 TLR4 7099 broad.mit.edu 37 9 120475859 120475859 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:120475859G>A ENST00000355622.6 + 3 1554 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E445K NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 485 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TTCTTTCCAGGAAAACTTCCT 0.448000 22 34 0 0 0.001523 0 0 AKR7L 246181 broad.mit.edu 37 1 19597390 19597390 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:19597390G>A ENST00000420396.2 - 0 253 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 AGGCTTCAGGGAGTTCCCAAT 0.522000 10 19 0 0 0.000673 0 0 TDP1 55775 broad.mit.edu 37 14 90446902 90446902 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:90446902C>T ENST00000335725.4 + 8 1060 c.810C>T c.(808-810)ctC>ctT p.L270L TDP1_ENST00000357382.3_Silent_p.L31L|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000393454.2_Silent_p.L270L|TDP1_ENST00000393452.3_Silent_p.L270L|TDP1_ENST00000555880.1_Silent_p.L270L NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 270 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) TGCTGCTGCTCTATGAAGAAG 0.418000 Repair of DNA-protein crosslinks 37 13 0 0 0.002222 0 0 ARAP2 116984 broad.mit.edu 37 4 36075412 36075412 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:36075412C>T ENST00000303965.4 - 32 5131 c.4642G>A c.(4642-4644)Gaa>Aaa p.E1548K NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1548 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CGTTTTCGTTCCTTTCCAGCT 0.398000 26 28 0 0 0.005443 0 0 PSD4 23550 broad.mit.edu 37 2 113943480 113943480 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:113943480G>A ENST00000245796.6 + 5 1471 c.1276G>A c.(1276-1278)Gaa>Aaa p.E426K PSD4_ENST00000441564.2_Intron NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 426 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACACCCCCAGGAATCTCTTCC 0.642000 12 10 0 0 0.001368 0 0 NELL2 4753 broad.mit.edu 37 12 45173792 45173792 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:45173792C>T ENST00000429094.2 - 4 853 c.349G>A c.(349-351)Gaa>Aaa p.E117K NELL2_ENST00000549027.1_Missense_Mutation_p.E116K|NELL2_ENST00000452445.2_Missense_Mutation_p.E117K|NELL2_ENST00000333837.4_Missense_Mutation_p.E140K|NELL2_ENST00000437801.2_Missense_Mutation_p.E167K|NELL2_ENST00000551601.1_Missense_Mutation_p.E116K|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.E116K NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 117 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CCACTACTTTCCAGTTCCAGG 0.458000 16 81 0 0 0.007413 0 0 EVX2 344191 broad.mit.edu 37 2 176948121 176948121 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:176948121G>A ENST00000308618.4 - 1 520 c.384C>T c.(382-384)ccC>ccT p.P128P NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 128 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CGAGGCCCCCGGGGGAGCGAA 0.687000 7 9 0 0 0.001984 0 0 PKD1L1 168507 broad.mit.edu 37 7 47930226 47930226 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:47930226G>A ENST00000289672.2 - 16 2639 c.2589C>T c.(2587-2589)ttC>ttT p.F863F NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 863 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GCATCACAAGGAACTGATCAT 0.582000 22 67 0 0 0.001523 0 0 C19orf40 91442 broad.mit.edu 37 19 33464112 33464112 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:33464112A>G ENST00000588258.1 + 2 120 c.10A>G c.(10-12)Aac>Gac p.N4D C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000590281.1_Missense_Mutation_p.N4D|C19orf40_ENST00000589646.1_Intron NM_152266.3 NP_689479.1 Q9BTP7 FAP24_HUMAN chromosome 19 open reading frame 40 4 DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Esophageal squamous(110;0.137) CATGGAAAAGAACCCCCCTGA 0.607000 Direct reversal of damage 21 58 0 0 0.002299 0 0 HNF4A 3172 broad.mit.edu 37 20 43052704 43052704 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:43052704C>T ENST00000316099.3 + 8 1028 c.939C>T c.(937-939)tcC>tcT p.S313S HNF4A_ENST00000457232.1_Silent_p.S291S|HNF4A_ENST00000443598.2_Silent_p.S313S|HNF4A_ENST00000415691.1_Silent_p.S313S NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 313 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGCTGCGTTCCCAGGTGCAGG 0.612000 57 312 0 0 0.003610 0 0 GRXCR1 389207 broad.mit.edu 37 4 43032468 43032468 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:43032468C>T ENST00000399770.2 + 4 784 c.784C>T c.(784-786)Cga>Tga p.R262* NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 262 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity p.R262*(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 GTCCATGTTTCGAAACTGCTT 0.473000 47 55 0 0 0.003610 0 0 UGT2A3 79799 broad.mit.edu 37 4 69816930 69816930 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:69816930C>T ENST00000251566.4 - 1 579 c.549G>A c.(547-549)ggG>ggA p.G183G UGT2A3_ENST00000420231.2_5'UTR NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 183 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CTGGAAGTTTCCCACAGCTTC 0.448000 8 11 0 0 0.004482 0 0 DDX5 1655 broad.mit.edu 37 17 62496442 62496442 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:62496442G>A ENST00000225792.5 - 13 1845 c.1444C>T c.(1444-1446)Cgt>Tgt p.R482C DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Missense_Mutation_p.R403C|DDX5_ENST00000578804.1_Missense_Mutation_p.R482C NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 482 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CCCCTGGAACGACCTGTCAAG 0.418000 T ETV4 prostate 42 46 0 0 0.002522 0 0 SMARCC2 6601 broad.mit.edu 37 12 56558273 56558273 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:56558273C>T ENST00000550164.1 - 28 3489 c.3475G>A c.(3475-3477)Ggc>Agc p.G1159S RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_Missense_Mutation_p.G1128S Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1128 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GGGAGAGTGCCCGGGGCGAAC 0.592000 26 22 0 0 0.004656 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040547 103040547 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:103040547C>T ENST00000264260.2 + 4 936 c.347C>T c.(346-348)cCa>cTa p.P116L IL18RAP_ENST00000409369.1_Intron NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 116 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 TTTTTGACCCCAGGGGTGAAT 0.373000 24 14 0 0 0.003330 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200811132 200811132 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:200811132T>C ENST00000358823.2 + 7 1208 c.938T>C c.(937-939)tTg>tCg p.L313S CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L313S|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.L324S NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 324 CH. cytoplasm|microtubule protein binding AGTAATTATTTGGTGTTCATG 0.338000 27 68 0 0 0.006320 0 0 CLC 1178 broad.mit.edu 37 19 40224958 40224958 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:40224958C>T ENST00000221804.4 - 3 343 c.268G>A c.(268-270)Gaa>Aaa p.E90K NM_001828.5 NP_001819.2 Q05315 LPPL_HUMAN Charcot-Leyden crystal galectin 90 Galectin. lipid catabolic process|multicellular organismal development carboxylesterase activity|lysophospholipase activity|sugar binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1) 12 all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06) Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255) Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23) GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655) ATGCTCAGTTCAAATTCTTGG 0.562000 28 54 0 0 0.006320 0 0 ACTR3B 57180 broad.mit.edu 37 7 152550596 152550596 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:152550596C>T ENST00000256001.8 + 11 1229 c.1095C>T c.(1093-1095)gtC>gtT p.V365V ACTR3B_ENST00000537264.1_Silent_p.V277V|ACTR3B_ENST00000397282.2_Silent_p.V277V|ACTR3B_ENST00000377776.3_Intron NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) 365 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) CTGTGGAGGTCCAGGTGGTCA 0.587000 12 36 0 0 0.002450 0 0 TTC25 83538 broad.mit.edu 37 17 40094955 40094955 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:40094955G>A ENST00000591658.1 + 0 839 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) TGATGCAAGAGAAATGGCTGC 0.547000 51 104 0 0 0.003610 0 0 ZNF28 7576 broad.mit.edu 37 19 53304429 53304429 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:53304429G>A ENST00000438150.2 - 2 1403 c.510C>T c.(508-510)tcC>tcT p.S170S ZNF28_ENST00000360272.4_Silent_p.S170S|ZNF28_ENST00000457749.2_Silent_p.S223S|ZNF28_ENST00000414252.2_Silent_p.S170S P17035 ZNF28_HUMAN zinc finger protein 28 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TACAATTAAAGGATTTGCCAC 0.323000 31 82 0 0 0.001786 0 0 C7 730 broad.mit.edu 37 5 40964869 40964869 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:40964869G>A ENST00000313164.9 + 14 2135 c.1776G>A c.(1774-1776)ggG>ggA p.G592G NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 592 Sushi 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TTCCTGTGGGGAAAAATGTAG 0.368000 6 77 0 0 0.001168 0 0 ACOT4 122970 broad.mit.edu 37 14 74062026 74062026 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:74062026G>A ENST00000326303.4 + 3 1188 c.934G>A c.(934-936)Gag>Aag p.E312K NM_152331.3 NP_689544.3 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 312 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) GATTCCAATAGAGAAGGCCCA 0.507000 21 18 0 0 0.001216 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038874 17038874 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:17038874C>T ENST00000443236.1 - 25 3487 c.3456G>A c.(3454-3456)ctG>ctA p.L1152L NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1105 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTGGGACCCCCAGGGTGAAGG 0.627000 31 20 0 0 0.004289 0 0 ARNT2 9915 broad.mit.edu 37 15 80867401 80867401 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:80867401C>T ENST00000533983.1 + 15 1769 c.1430C>T c.(1429-1431)tCc>tTc p.S477F ARNT2_ENST00000303329.4_Missense_Mutation_p.S488F|ARNT2_ENST00000527771.1_Missense_Mutation_p.S477F Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 488 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) GCAATCTTCTCCCAGGAAAGA 0.473000 34 135 0 0 0.004289 0 0 LARGE 9215 broad.mit.edu 37 22 33700406 33700406 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:33700406G>A ENST00000354992.2 - 13 2110 c.1539C>T c.(1537-1539)ttC>ttT p.F513F LARGE_ENST00000397394.2_Silent_p.F513F|LARGE_ENST00000452586.2_Silent_p.F312F|LARGE_ENST00000437602.2_Silent_p.F513F|LARGE_ENST00000337431.2_Silent_p.F461F|LARGE_ENST00000402320.1_Silent_p.F461F NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 513 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) CGTAGCGGAGGAACTGCTGGG 0.627000 9 37 0 0 0.004482 0 0 CHGB 1114 broad.mit.edu 37 20 5904347 5904347 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:5904347G>A ENST00000378961.4 + 4 1761 c.1557G>A c.(1555-1557)ggG>ggA p.G519G NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 519 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AGAGATTAGGGGAACTGTTCA 0.448000 7 4 0 0 0.003080 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161022449 161022449 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:161022449G>A ENST00000368013.3 - 7 1123 c.803C>T c.(802-804)cCc>cTc p.P268L ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P91L|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P268L NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 268 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AGTATGGTAGGGCCGCATCTG 0.592000 6 29 0 0 0.001168 0 0 GOLGA4 2803 broad.mit.edu 37 3 37369101 37369101 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:37369101C>T ENST00000361924.2 + 14 6098 c.5724C>T c.(5722-5724)tcC>tcT p.S1908S GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.S1930S NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1908 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AAGAAAAGTCCAAATCACATT 0.393000 47 36 0 0 0.003610 0 0 SYNE1 23345 broad.mit.edu 37 6 152861132 152861132 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:152861132C>T ENST00000367255.5 - 4 693 c.92G>A c.(91-93)cGa>cAa p.R31Q SYNE1_ENST00000413186.2_Missense_Mutation_p.R31Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R31Q|SYNE1_ENST00000466159.2_Missense_Mutation_p.R31Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R31Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R31Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.R31Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.R31Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R31Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 31 Actin-binding.|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGTGAAAGTTCGTTTTTGTAC 0.338000 HNSCC(10;0.0054) 74 21 0 0 0.003610 0 0 LOC101928517 101928517 broad.mit.edu 37 19 51671442 51671442 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:51671442G>A ENST00000600074.1 - 0 493 SIGLEC17P_ENST00000598286.1_RNA TGTGAGCAGGGAACACCCCCC 0.637000 19 47 0 0 0.002299 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087068 39087068 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:39087068G>A ENST00000400482.3 - 3 981 c.392C>T c.(391-393)cCt>cTt p.P131L KCNJ6_ENST00000288309.6_Missense_Mutation_p.P131L NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 131 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GGTAACACAAGGAGTCCAGGA 0.468000 22 74 0 0 0.002299 0 0 MYO18B 84700 broad.mit.edu 37 22 26270264 26270264 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:26270264G>A ENST00000335473.7 + 23 4213 c.3963G>A c.(3961-3963)aaG>aaA p.K1321K MYO18B_ENST00000536101.1_Silent_p.K1321K|MYO18B_ENST00000407587.2_Silent_p.K1322K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1321 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TTTTTCTCAAGGCAGGTGTGA 0.547000 107 15 0 0 0.003610 0 0 MTUS2 23281 broad.mit.edu 37 13 29600443 29600443 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:29600443C>T ENST00000431530.3 + 1 1696 c.1638C>T c.(1636-1638)ctC>ctT p.L546L NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 536 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CAGCACCCCTCCACCCAGAGA 0.493000 18 31 0 0 0.004990 0 0 CFH 3075 broad.mit.edu 37 1 196694310 196694310 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:196694310C>T ENST00000367429.4 + 12 1996 c.1756C>T c.(1756-1758)Cag>Tag p.Q586* NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 586 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CAAGAAAGACCAGTATAAAGT 0.353000 29 19 0 0 0.005443 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178580519 178580519 + Silent SNP G G A rs147438064 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:178580519G>A ENST00000251582.7 - 9 1589 c.1488C>T c.(1486-1488)ttC>ttT p.F496F ADAMTS2_ENST00000274609.5_Silent_p.F496F NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 496 Disintegrin. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGCCCAGGCCGAAGTCAAAGC 0.672000 5 25 0 0 0.001168 0 0 TRAV26-2 28656 broad.mit.edu 37 14 22671026 22671026 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22671026G>A ENST00000390460.1 + 0 91 GGAGAGTAACGAAGAAGAGCC 0.463000 26 27 0 0 0.007291 0 0 FARP1 10160 broad.mit.edu 37 13 99061620 99061620 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:99061620C>T ENST00000376586.2 + 14 1779 c.1443C>T c.(1441-1443)tcC>tcT p.S481S FARP1_ENST00000595437.1_Silent_p.S481S|FARP1_ENST00000319562.6_Silent_p.S481S Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 481 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTCACCTTTCCGAGCTGTCTG 0.517000 17 27 0 0 0.002299 0 0 ASXL2 55252 broad.mit.edu 37 2 26022340 26022340 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:26022340G>A ENST00000435504.4 - 5 610 c.317C>T c.(316-318)tCa>tTa p.S106L ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.S78L Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 106 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGGAATCTGACTGACCATC 0.458000 41 99 0 0 0.006999 0 0 NLRP5 126206 broad.mit.edu 37 19 56539352 56539352 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:56539352C>T ENST00000390649.3 + 7 1753 c.1753C>T c.(1753-1755)Ctc>Ttc p.L585F NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 585 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTTCTTCCACCTCAGTCTCCA 0.537000 10 21 0 0 0.001368 0 0 MAPT 4137 broad.mit.edu 37 17 44067303 44067303 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:44067303C>T ENST00000344290.5 + 8 1564 c.1242C>T c.(1240-1242)caC>caT p.H414H MAPT_ENST00000571987.1_Silent_p.H414H|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Silent_p.H414H|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.H414H|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000431008.3_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 414 H -> L (in Ref. 5; AAC04277). cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GCCCCAAACACCCCACTCCTG 0.468000 127 182 0 0 0.003610 0 0 ADCY3 109 broad.mit.edu 37 2 25141686 25141686 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:25141686G>A ENST00000260600.5 - 1 1022 c.171C>T c.(169-171)ttC>ttT p.F57F NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 57 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) ACTCCGGCACGAAAGTCAGCC 0.627000 15 37 0 0 0.004990 0 0 MMRN2 79812 broad.mit.edu 37 10 88704965 88704965 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:88704965C>T ENST00000372027.4 - 4 534 c.461G>A c.(460-462)gGa>gAa p.G154E NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 154 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 GCTGACTGGTCCATCCTGAGG 0.552000 20 15 0 0 0.003330 0 0 LOC150776 150776 broad.mit.edu 37 2 132266173 132266173 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:132266173C>T ENST00000438378.2 + 0 1226 NR_026922.1 GCAGTCCCCTCATGCCAAGGT 0.453000 4 20 0 0 0.000248 0 0 FAM160B1 57700 broad.mit.edu 37 10 116606030 116606030 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:116606030C>T ENST00000369248.4 + 10 1637 c.1302C>T c.(1300-1302)atC>atT p.I434I FAM160B1_ENST00000369250.3_Silent_p.I434I NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 434 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 TGTTTTTTATCCTTGGAGAAC 0.423000 58 48 0 0 0.003610 0 0 GPR39 2863 broad.mit.edu 37 2 133175238 133175238 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:133175238C>T ENST00000329321.3 + 1 1092 c.623C>T c.(622-624)tCc>tTc p.S208F NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 208 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCCAATATGTCCATCTGTACC 0.622000 12 39 0 0 0.001855 0 0 RREB1 6239 broad.mit.edu 37 6 7230453 7230453 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:7230453C>T ENST00000379938.2 + 10 2658 c.2121C>T c.(2119-2121)ccC>ccT p.P707P RREB1_ENST00000379933.3_Silent_p.P707P|RREB1_ENST00000334984.6_Silent_p.P707P|RREB1_ENST00000349384.6_Silent_p.P707P NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 707 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GCCACTACCCCTTCACTGTCA 0.597000 44 39 0 0 0.003610 0 0 SKAP1 8631 broad.mit.edu 37 17 46262156 46262156 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:46262156G>A ENST00000336915.6 - 7 565 c.496C>T c.(496-498)Ccc>Tcc p.P166S SKAP1_ENST00000584924.1_Missense_Mutation_p.P166S NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 166 PH. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 CGCAGGTGGGGGGCCATCCGT 0.542000 30 126 0 0 0.001512 0 0 IL25 64806 broad.mit.edu 37 14 23842583 23842583 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:23842583G>A ENST00000329715.2 + 1 514 c.256G>A c.(256-258)Gcc>Acc p.A86T IL25_ENST00000397242.2_Missense_Mutation_p.A70T NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 86 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) CAACAGCAGGGCCATCTCCCC 0.632000 8 33 0 0 0.000673 0 0 PTPRT 11122 broad.mit.edu 37 20 40980844 40980844 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:40980844C>T ENST00000373198.3 - 10 1877 c.1642G>A c.(1642-1644)Gaa>Aaa p.E548K PTPRT_ENST00000373190.1_Missense_Mutation_p.E548K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E548K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E548K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E548K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E548K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E548K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 548 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGTGGGTTTCATTCCGGAGC 0.572000 43 69 0 0 0.002522 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627177 108627177 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:108627177G>A ENST00000264047.2 + 9 1879 c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K SLC5A7_ENST00000540517.1_Missense_Mutation_p.E430K|SLC5A7_ENST00000409059.1_Missense_Mutation_p.E535K NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 535 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGTCAAAAATGAAAATATTAA 0.373000 15 18 0 0 0.003163 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767519 143767519 + Silent SNP G G A rs66906173 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:143767519G>A ENST00000419275.1 - 1 362 c.330C>T c.(328-330)tcC>tcT p.S110S NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 110 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 TGAAAAACTGGGAACCATTTG 0.478000 15 308 0 0 0.003610 0 0 TNRC6B 23112 broad.mit.edu 37 22 40662767 40662767 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:40662767C>T ENST00000454349.2 + 5 2744 c.2533C>T c.(2533-2535)Cca>Tca p.P845S TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.P845S|TNRC6B_ENST00000301923.9_Intron NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 845 Pro-rich. gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 AGGCCCACCCCCACCACCTCC 0.612000 8 46 0 0 0.003080 0 0 LTBP3 4054 broad.mit.edu 37 11 65315422 65315422 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:65315422G>A ENST00000301873.5 - 12 2083 c.1815C>T c.(1813-1815)taC>taT p.Y605Y LTBP3_ENST00000532932.1_Silent_p.Y35Y|LTBP3_ENST00000322147.4_Silent_p.Y605Y|LTBP3_ENST00000536982.1_Silent_p.Y231Y NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 605 Cys-rich.|EGF-like 3. extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GATGTGACCGGTAGCCGGGGT 0.667000 25 16 0 0 0.005443 0 0 SCYL1 57410 broad.mit.edu 37 11 65306023 65306023 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:65306023C>T ENST00000270176.5 + 18 2490 c.2413C>T c.(2413-2415)Cgg>Tgg p.R805W SCYL1_ENST00000525364.1_3'UTR|SCYL1_ENST00000527630.1_Missense_Mutation_p.R704W|SCYL1_ENST00000534462.1_3'UTR|SCYL1_ENST00000527009.1_Missense_Mutation_p.R662W|SCYL1_ENST00000533862.1_3'UTR|SCYL1_ENST00000524944.1_3'UTR|SCYL1_ENST00000279270.6_3'UTR|SCYL1_ENST00000420247.2_Missense_Mutation_p.R788W NM_020680.3 NP_065731.3 Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 805 Interaction with COPB1 (By similarity). regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 GCTGGGAGCCCGGAAGCTGGA 0.677000 8 15 0 0 0.006214 0 0 GFAP 2670 broad.mit.edu 37 17 42990641 42990641 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:42990641G>A ENST00000253408.5 - 4 841 c.776C>T c.(775-777)tCc>tTc p.S259F GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.S259F|GFAP_ENST00000435360.2_Missense_Mutation_p.S259F NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 259 Coil 2B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) GGCTACCTTGGAGCGGTACCA 0.602000 60 132 0 0 0.003610 0 0 LILRB5 10990 broad.mit.edu 37 19 54760628 54760628 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:54760628G>A ENST00000450632.1 - 3 156 c.79C>T c.(79-81)Ccc>Tcc p.P27S LILRB5_ENST00000449561.2_Missense_Mutation_p.P27S|LILRB5_ENST00000345866.6_Missense_Mutation_p.P27S|LILRB5_ENST00000316219.5_Missense_Mutation_p.P27S O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 27 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGGGTTTGGGGAGGGTGCCT 0.622000 9 45 0 0 0.000673 0 0 ALPI 248 broad.mit.edu 37 2 233322730 233322730 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:233322730G>A ENST00000295463.3 + 8 956 c.879G>A c.(877-879)acG>acA p.T293T NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 293 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCGGAGACACGAAATATGAGA 0.622000 12 15 0 0 0.002450 0 0 PALD1 27143 broad.mit.edu 37 10 72291073 72291073 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:72291073G>A ENST00000263563.6 + 5 764 c.496G>A c.(496-498)Gaa>Aaa p.E166K NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 TGTGCGGGAGGAACCTGTGCT 0.587000 22 50 0 0 0.002780 0 0 ACVRL1 94 broad.mit.edu 37 12 52307413 52307413 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:52307413C>T ENST00000550683.1 + 3 527 c.426C>T c.(424-426)gcC>gcT p.A142A ACVRL1_ENST00000419526.2_Intron|ACVRL1_ENST00000388922.4_Silent_p.A128A NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 128 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CCGTGCTGGCCTTGCTGGCCC 0.682000 7 23 0 0 0.001984 0 0 ETV3 2117 broad.mit.edu 37 1 157103994 157103994 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:157103994G>A ENST00000368192.4 - 4 374 c.310C>T c.(310-312)Cat>Tat p.H104Y ETV3_ENST00000326786.4_Missense_Mutation_p.H104Y NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 104 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) TTTGTTTTATGAAGGATCCTC 0.373000 8 45 0 0 0.004482 0 0 OR2B6 26212 broad.mit.edu 37 6 27925809 27925809 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:27925809C>T ENST00000244623.1 + 1 791 c.791C>T c.(790-792)tCg>tTg p.S264L NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CAACCACCTTCGCCCAGCTCC 0.453000 92 50 0 0 0.003610 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882320 228882320 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:228882320C>T ENST00000392056.3 - 7 3296 c.3250G>A c.(3250-3252)Gaa>Aaa p.E1084K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1084K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1084 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGAATGCTTTCGCAGCTGGAG 0.622000 20 23 0 0 0.001882 0 0 RAVER2 55225 broad.mit.edu 37 1 65255101 65255101 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:65255101G>A ENST00000294428.3 + 5 1087 c.1009G>A c.(1009-1011)Gag>Aag p.E337K RAVER2_ENST00000430964.2_Missense_Mutation_p.E43K|RAVER2_ENST00000371072.4_Missense_Mutation_p.E337K Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 337 cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 CTTACTTCCAGAGCCAAATCC 0.373000 12 27 0 0 0.000978 0 0 PPRC1 23082 broad.mit.edu 37 10 103901607 103901607 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:103901607C>T ENST00000278070.2 + 5 3381 c.3342C>T c.(3340-3342)ccC>ccT p.P1114P PPRC1_ENST00000370012.1_Silent_p.P81P|PPRC1_ENST00000413464.2_Silent_p.P1114P|PPRC1_ENST00000489648.1_3'UTR NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1114 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) AGAAGCCCCCCTTGCCTGCTA 0.592000 9 16 0 0 0.004482 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477410 110477410 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:110477410G>A ENST00000378402.5 + 49 8453 c.8349G>A c.(8347-8349)ccG>ccA p.P2783P NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2783 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTCACACACCGAACAAGGCTG 0.408000 HNSCC(38;0.096) 37 30 0 0 0.005524 0 0 ZNF534 147658 broad.mit.edu 37 19 52942068 52942068 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:52942068C>T ENST00000332323.6 + 4 1455 c.1394C>T c.(1393-1395)tCc>tTc p.S465F ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.S452F|ZNF534_ENST00000432303.2_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 CACAAGTCTTCCCTAACCTAT 0.423000 11 4 0 0 0.000978 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140870620 140870620 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140870620C>T ENST00000252087.1 + 1 1813 c.1813C>T c.(1813-1815)Ctc>Ttc p.L605F PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 605 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATGCGTGGCTCTCCTACTC 0.617000 31 17 0 0 0.003271 0 0 RNF214 257160 broad.mit.edu 37 11 117152097 117152097 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:117152097C>T ENST00000530849.1 + 8 758 c.748C>T c.(748-750)Cgg>Tgg p.R250W RNF214_ENST00000531287.1_Missense_Mutation_p.R250W|RNF214_ENST00000531452.1_Missense_Mutation_p.R405W|RNF214_ENST00000300650.4_Missense_Mutation_p.R405W Q8ND24 RN214_HUMAN ring finger protein 214 405 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) GAATGGAGTTCGGATAATGAA 0.423000 7 3 0 0 0.003080 0 0 SLC6A19 340024 broad.mit.edu 37 5 1214133 1214133 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:1214133C>T ENST00000304460.10 + 6 896 c.840C>T c.(838-840)tcC>tcT p.S280S NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 280 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCTCCTTCTCCCTGGCCTTCG 0.637000 7 76 0 0 0.004482 0 0 SLAMF1 6504 broad.mit.edu 37 1 160589632 160589632 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:160589632C>T ENST00000302035.6 - 5 1147 c.798G>A c.(796-798)acG>acA p.T266T SLAMF1_ENST00000235739.5_Silent_p.T236T|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000355199.3_Silent_p.T266T NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 266 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GGTAATGGTTCGTTTTACCTG 0.438000 27 122 0 0 0.005443 0 0 SYCP2 10388 broad.mit.edu 37 20 58442899 58442899 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:58442899G>A ENST00000357552.3 - 39 4217 c.3992C>T c.(3991-3993)tCt>tTt p.S1331F SYCP2_ENST00000371001.2_Missense_Mutation_p.S1331F Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1331 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TACACTTTCAGACACTAAAAA 0.323000 8 50 0 0 0.004482 0 0 LCT 3938 broad.mit.edu 37 2 136547308 136547308 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:136547308T>A ENST00000264162.2 - 16 5406 c.5396A>T c.(5395-5397)gAg>gTg p.E1799V NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1799 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TGTGGCCCACTCAAAATTGTC 0.493000 33 75 0 0 0.004878 0 0 NINL 22981 broad.mit.edu 37 20 25507211 25507211 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:25507211C>T ENST00000278886.6 - 2 86 c.13G>A c.(13-15)Gag>Aag p.E5K NINL_ENST00000422516.1_Missense_Mutation_p.E5K NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 5 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TAGTGGTTCTCTTCTTCATCC 0.572000 38 95 0 0 0.001951 0 0 THEMIS 387357 broad.mit.edu 37 6 128134340 128134340 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:128134340C>T ENST00000368250.1 - 5 1707 c.1209G>A c.(1207-1209)gaG>gaA p.E403E THEMIS_ENST00000368248.2_Silent_p.E482E|THEMIS_ENST00000543064.1_Silent_p.E482E|THEMIS_ENST00000537166.1_Silent_p.E447E Q8N1K5 THMS1_HUMAN thymocyte selection associated 482 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TAATGTCCTCCTCCAACTGCA 0.493000 27 10 0 0 0.004656 0 0 FMOD 2331 broad.mit.edu 37 1 203316868 203316868 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:203316868G>A ENST00000354955.4 - 2 994 c.531C>T c.(529-531)tcC>tcT p.S177S FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 177 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) GCTCTCTCAGGGATCGAGGCA 0.592000 39 150 0 0 0.002222 0 0 C10orf10 11067 broad.mit.edu 37 10 45472977 45472977 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:45472977C>T ENST00000298295.3 - 2 719 c.502G>A c.(502-504)Gat>Aat p.D168N RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.4_Intron NM_007021.3 NP_008952.1 Q9NTK1 DEPP_HUMAN chromosome 10 open reading frame 10 168 mitochondrion lung(1) 1 TGCTGCCCATCCTGCGGTGGT 0.637000 24 18 0 0 0.004656 0 0 TSIX 9383 broad.mit.edu 37 X 73043728 73043728 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:73043728C>T ENST00000604411.1 + 0 31689 XIST_ENST00000429829.1_lincRNA NR_003255.2 ATTTTTATATCCTAGGGCATG 0.358000 17 3 0 0 0.004990 0 0 TRPV5 56302 broad.mit.edu 37 7 142627202 142627202 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:142627202C>T ENST00000265310.1 - 3 648 c.300G>A c.(298-300)gaG>gaA p.E100E TRPV5_ENST00000442623.1_Silent_p.E100E NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 100 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CTGGGGCAGCCTCCATCAGCA 0.552000 16 121 0 0 0.004007 0 0 SGMS1 259230 broad.mit.edu 37 10 52071147 52071147 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:52071147C>T ENST00000361781.2 - 9 1729 c.770G>A c.(769-771)cGa>cAa p.R257Q SGMS1_ENST00000429490.1_Missense_Mutation_p.R88Q NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 263 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CATTATTCTTCGCAGTTGGGC 0.453000 23 9 0 0 0.002780 0 0 ZNF697 90874 broad.mit.edu 37 1 120168512 120168512 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:120168512G>A ENST00000421812.2 - 2 331 c.212C>T c.(211-213)cCc>cTc p.P71L NM_001080470.1 NP_001073939.1 Q5TEC3 ZN697_HUMAN zinc finger protein 697 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) GCAGATGTCGGGCACTGCTTC 0.502000 9 17 0 0 0.006214 0 0 PIK3CD 5293 broad.mit.edu 37 1 9784371 9784371 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:9784371T>A ENST00000536656.1 + 22 3036 c.2828T>A c.(2827-2829)tTc>tAc p.F943Y PIK3CD_ENST00000377346.4_Missense_Mutation_p.F919Y|PIK3CD_ENST00000361110.2_Missense_Mutation_p.F943Y O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 919 PI3K/PI4K. phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CTGGGGAATTTCAAGACCAAG 0.498000 29 42 0 0 0.002836 0 0 NCOA1 8648 broad.mit.edu 37 2 24930670 24930670 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:24930670G>A ENST00000405141.1 + 14 3042 c.2331G>A c.(2329-2331)aaG>aaA p.K777K NCOA1_ENST00000407230.1_Silent_p.K626K|NCOA1_ENST00000406961.1_Silent_p.K777K|NCOA1_ENST00000395856.3_Silent_p.K777K|NCOA1_ENST00000348332.3_Silent_p.K777K|NCOA1_ENST00000288599.5_Silent_p.K777K|NCOA1_ENST00000538539.1_Silent_p.K777K Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 777 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGTGGAAAAGAAAGAACAGA 0.433000 T PAX3 alveolar rhadomyosarcoma 8 14 0 0 0.003080 0 0 DIDO1 11083 broad.mit.edu 37 20 61513284 61513284 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:61513284G>A ENST00000266070.4 - 16 4349 c.4024C>T c.(4024-4026)Ctc>Ttc p.L1342F DIDO1_ENST00000395343.1_Missense_Mutation_p.L1342F NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1342 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCCTGGGGGAGACCTGCGGTG 0.577000 38 137 0 0 0.002852 0 0 KLK3 354 broad.mit.edu 37 19 51361294 51361294 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:51361294G>A ENST00000360617.3 + 3 216 c.216G>A c.(214-216)gtG>gtA p.V72V KLK3_ENST00000326003.2_Silent_p.V72V|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000593997.1_Silent_p.V72V P07288 KLK3_HUMAN kallikrein-related peptidase 3 72 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) GCAAAAGCGTGATCTTGCTGG 0.547000 7 22 0 0 0.004482 0 0 CREB3L3 84699 broad.mit.edu 37 19 4159755 4159755 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:4159755C>T ENST00000078445.2 + 4 699 c.552C>T c.(550-552)ctC>ctT p.L184L CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Silent_p.L184L|CREB3L3_ENST00000595923.1_Silent_p.L183L|CREB3L3_ENST00000602147.1_Silent_p.L184L NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 184 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) AAGACCTCCTCCTTTCGGGCA 0.622000 20 58 0 0 0.002299 0 0 C6 729 broad.mit.edu 37 5 41143050 41143050 + Silent SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:41143050T>C ENST00000263413.3 - 18 2946 c.2682A>G c.(2680-2682)caA>caG p.Q894Q C6_ENST00000337836.5_Silent_p.Q894Q NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 894 C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CACAGTAGAGTTGGTTTCCAC 0.443000 43 30 0 0 0.002222 0 0 ANK3 288 broad.mit.edu 37 10 61830713 61830713 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:61830713G>A ENST00000280772.1 - 37 10117 c.9926C>T c.(9925-9927)cCt>cTt p.P3309L ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3309 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGCCCCGGGAGGAACTGGTGA 0.443000 22 87 0 0 0.004656 0 0 OR10K2 391107 broad.mit.edu 37 1 158390395 158390395 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158390395G>A ENST00000314902.2 - 1 261 c.262C>T c.(262-264)Cag>Tag p.Q88* NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) GTCTTCTTCTGGGACAGCAGG 0.483000 67 84 0 0 0.003610 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994708 45994708 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45994708C>T ENST00000400374.3 + 1 1103 c.1073C>T c.(1072-1074)tCc>tTc p.S358F TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 358 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 TGCAGACCCTCCTCCTCCGTG 0.662000 21 143 0 0 0.002299 0 0 PPAP2B 8613 broad.mit.edu 37 1 57002660 57002660 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:57002660G>A ENST00000371250.3 - 2 815 c.264C>T c.(262-264)ctC>ctT p.L88L NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 88 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 CCACGGCACAGAGCACAGCGT 0.473000 27 57 0 0 0.002445 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56789060 56789060 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:56789060G>A ENST00000413728.2 - 3 885 c.342C>T c.(340-342)ttC>ttT p.F114F ARHGEF3_ENST00000338458.4_Silent_p.F140F|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000496106.1_Silent_p.F114F|ARHGEF3_ENST00000497267.1_Silent_p.F79F|ARHGEF3_ENST00000296315.3_Silent_p.F108F|ARHGEF3_ENST00000495373.1_Silent_p.F108F NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 108 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) CGCACACATCGAAGGTCTCAC 0.582000 26 72 0 0 0.006320 0 0 TRPM2 7226 broad.mit.edu 37 21 45784063 45784063 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45784063C>T ENST00000397928.1 + 3 766 c.321C>T c.(319-321)acC>acT p.T107T TRPM2_ENST00000397932.2_Silent_p.T107T|TRPM2_ENST00000300482.5_Silent_p.T107T|TRPM2_ENST00000300481.9_Silent_p.T107T NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 107 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AGCCCCACACCTTCCAGGGCA 0.572000 16 39 0 0 0.006122 0 0 RGS12 6002 broad.mit.edu 37 4 3319348 3319348 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:3319348C>T ENST00000336727.3 + 2 2355 c.1451C>T c.(1450-1452)cCc>cTc p.P484L RGS12_ENST00000344733.5_Missense_Mutation_p.P484L|RGS12_ENST00000543385.1_Missense_Mutation_p.P484L|RGS12_ENST00000382788.3_Missense_Mutation_p.P484L NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 484 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GAAGGGAGCCCCCCATTTGAG 0.682000 23 34 0 0 0.004656 0 0 RGS7BP 401190 broad.mit.edu 37 5 63871694 63871694 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:63871694C>T ENST00000334025.2 + 3 752 c.426C>T c.(424-426)tcC>tcT p.S142S RGS7BP_ENST00000508162.1_3'UTR NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 142 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) TGCTAAAATCCATATGTCTGC 0.428000 10 60 0 0 0.000673 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784766 140784766 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140784766C>T ENST00000573521.1 + 1 2247 c.2247C>T c.(2245-2247)ttC>ttT p.F749F PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGAGCTTTCCTACAGACCT 0.567000 53 32 0 0 0.003610 0 0 EPHB3 2049 broad.mit.edu 37 3 184295720 184295720 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:184295720C>T ENST00000330394.2 + 8 2126 c.1674C>T c.(1672-1674)ccC>ccT p.P558P EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 558 integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) AGCAGCTTCCCCTCATCGTGG 0.642000 19 40 0 0 0.001216 0 0 ARMC4 55130 broad.mit.edu 37 10 28260179 28260179 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:28260179C>T ENST00000305242.5 - 8 1092 c.1000G>A c.(1000-1002)Gaa>Aaa p.E334K ARMC4_ENST00000239715.3_Missense_Mutation_p.E191K|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.E26K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 334 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GCTGCTTCTTCCTTCTTGGGG 0.388000 11 26 0 0 0.000978 0 0 PRKCB 5579 broad.mit.edu 37 16 24231384 24231384 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:24231384G>A ENST00000321728.7 + 17 2141 c.1966G>A c.(1966-1968)Gaa>Aaa p.E656K PRKCB_ENST00000303531.7_3'UTR NM_212535.2 NP_997700.1 P05771 KPCB_HUMAN protein kinase C, beta 656 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GGACCAAAATGAATTTGCTGG 0.448000 36 25 0 0 0.006230 0 0 C1GALT1C1 29071 broad.mit.edu 37 X 119760717 119760717 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:119760717G>A ENST00000304661.5 - 2 543 c.305C>T c.(304-306)tCt>tTt p.S102F C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.S102F NM_001011551.2 NP_001011551.1 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 102 integral to membrane p.S102F(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 11 AACATTTTCAGAACTGAAGAA 0.363000 47 7 0 0 0.002852 0 0 LTBP1 4052 broad.mit.edu 37 2 33623611 33623611 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:33623611G>A ENST00000404816.2 + 34 5518 c.5165G>A c.(5164-5166)tGa>tAa p.*1722* LTBP1_ENST00000404525.1_Silent_p.*1343*|LTBP1_ENST00000407925.1_Silent_p.*1396*|LTBP1_ENST00000272273.5_Silent_p.*620*|LTBP1_ENST00000354476.3_Silent_p.*1723*|LTBP1_ENST00000390003.4_Silent_p.*1397*|LTBP1_ENST00000418533.2_Silent_p.*1354*|LTBP1_ENST00000402934.1_Silent_p.*1341* Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 0 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GACCTGGAGTGAAACAGAATC 0.448000 31 24 0 0 0.002836 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44795866 44795866 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:44795866C>T ENST00000309315.4 + 2 141 c.18C>T c.(16-18)ccC>ccT p.P6P ZMIZ2_ENST00000265346.7_Silent_p.P6P|ZMIZ2_ENST00000441627.1_Silent_p.P6P|ZMIZ2_ENST00000433667.1_Silent_p.P6P|ZMIZ2_ENST00000413916.1_Silent_p.P6P NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 6 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCATGAACCCCATGAAACCTG 0.607000 23 78 0 0 0.007291 0 0 SPATC1 375686 broad.mit.edu 37 8 145094953 145094953 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:145094953G>A ENST00000377470.3 + 2 457 c.355G>A c.(355-357)Ggc>Agc p.G119S SPATC1_ENST00000447830.2_Missense_Mutation_p.G119S NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 119 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCCCTGACAGGCACCCTCAG 0.652000 12 27 0 0 0.000978 0 0 KRT14 3861 broad.mit.edu 37 17 39740105 39740105 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:39740105C>T ENST00000167586.6 - 4 920 c.834G>A c.(832-834)gtG>gtA p.V278V NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 278 Linker 12.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) GGCTCAGGTCCACGCCAGGTG 0.572000 58 86 0 0 0.003610 0 0 TMEM209 84928 broad.mit.edu 37 7 129832562 129832562 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:129832562G>A ENST00000397622.2 - 6 797 c.675C>T c.(673-675)gtC>gtT p.V225V RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Silent_p.V224V|TMEM209_ENST00000473456.1_Silent_p.V225V|TMEM209_ENST00000336804.8_Silent_p.V224V NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 225 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) GTGAGTTGTAGACGGTAGGTG 0.498000 9 71 0 0 0.004482 0 0 SLC44A5 204962 broad.mit.edu 37 1 75716951 75716951 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:75716951G>A ENST00000370855.5 - 7 402 c.289C>T c.(289-291)Ctg>Ttg p.L97L SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Silent_p.L97L|SLC44A5_ENST00000535611.1_5'UTR NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 97 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CAGCGTAACAGGTTAAAGTAA 0.428000 23 51 0 0 0.003954 0 0 NUTM2F 54754 broad.mit.edu 37 9 97083470 97083470 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:97083470G>A ENST00000335456.7 - 4 907 c.887C>T c.(886-888)tCg>tTg p.S296L NUTM2F_ENST00000341207.4_Missense_Mutation_p.S296L|NUTM2F_ENST00000253262.4_Missense_Mutation_p.S296L NUT family member 2F CATCCACTGCGATTTCTGAAT 0.642000 5 3 0 0 0.001168 0 0 SPATC1 375686 broad.mit.edu 37 8 145094954 145094954 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:145094954G>A ENST00000377470.3 + 2 458 c.356G>A c.(355-357)gGc>gAc p.G119D SPATC1_ENST00000447830.2_Missense_Mutation_p.G119D NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 119 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCCTGACAGGCACCCTCAGC 0.647000 11 26 0 0 0.000673 0 0 ZNF599 148103 broad.mit.edu 37 19 35250816 35250816 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:35250816G>A ENST00000329285.7 - 4 1263 c.890C>T c.(889-891)tCt>tTt p.S297F NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CTGGATAAAAGAAGAGCGGTG 0.438000 53 44 0 0 0.003610 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450200 105450200 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:105450200G>A ENST00000337685.2 + 5 1560 c.775G>A c.(775-777)Gag>Aag p.E259K MUM1L1_ENST00000372552.1_Missense_Mutation_p.E259K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.E259K NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 259 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 AGAAGAGAGCGAGGATACCTG 0.453000 7 4 0 0 0.003080 0 0 EVPL 2125 broad.mit.edu 37 17 74014603 74014603 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:74014603C>T ENST00000301607.3 - 12 1616 c.1363G>A c.(1363-1365)Ggg>Agg p.G455R EVPL_ENST00000586740.1_Missense_Mutation_p.G455R NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 455 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TTGGTCTCCCCGCCAGGGCCC 0.647000 19 14 0 0 0.002299 0 0 BSN 8927 broad.mit.edu 37 3 49694051 49694051 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:49694051C>T ENST00000296452.4 + 5 7176 c.7062C>T c.(7060-7062)ttC>ttT p.F2354F NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2354 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGCCAGGGTTCGAGAAAGAGG 0.652000 6 4 0 0 0.003080 0 0 FAM183A 440585 broad.mit.edu 37 1 43613734 43613734 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:43613734C>T ENST00000335282.4 + 1 112 c.112C>T c.(112-114)Cac>Tac p.H38Y FAM183A_ENST00000409337.1_3'UTR|FAM183A_ENST00000410048.1_Intron NM_001101376.2 NP_001094846.2 A6NL82 F183A_HUMAN family with sequence similarity 183, member A 38 kidney(1)|large_intestine(1)|lung(2)|ovary(3) 7 CACGCAGTATCACGTGAATCC 0.612000 10 18 0 0 0.001368 0 0 OAS3 4940 broad.mit.edu 37 12 113384623 113384623 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:113384623G>A ENST00000228928.7 + 4 891 c.712G>A c.(712-714)Gag>Aag p.E238K RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 238 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 CTTCGCCTGGGAGCAGGGCTG 0.592000 16 1 0 0 0.003163 0 0 TMEM45A 55076 broad.mit.edu 37 3 100275807 100275807 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:100275807T>C ENST00000403410.1 + 5 1062 c.442T>C c.(442-444)Ttt>Ctt p.F148L TMEM45A_ENST00000462884.1_3'UTR|TMEM45A_ENST00000323523.4_Missense_Mutation_p.F132L Q9NWC5 TM45A_HUMAN transmembrane protein 45A 132 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2) 11 AAATGCCTTATTTGTGGAGGG 0.383000 68 53 0 0 0.003610 0 0 PLOD3 8985 broad.mit.edu 37 7 100855845 100855845 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100855845G>A ENST00000223127.3 - 9 1369 c.971C>T c.(970-972)cCc>cTc p.P324L NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 324 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CCTGTCGGGGGGATAGTCCAG 0.607000 92 6 0 0 0.003610 0 0 SLC9C2 284525 broad.mit.edu 37 1 173517566 173517566 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:173517566T>C ENST00000367714.3 - 12 1845 c.1423A>G c.(1423-1425)Acc>Gcc p.T475A SLC9C2_ENST00000536496.1_Missense_Mutation_p.T373A|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 475 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TCTACTAAGGTCCAGTTAACA 0.363000 50 17 0 0 0.003610 0 0 GALNT15 117248 broad.mit.edu 37 3 16237312 16237312 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:16237312C>T ENST00000339732.5 + 2 1088 c.585C>T c.(583-585)gtC>gtT p.V195V GALNT15_ENST00000437509.1_Silent_p.V195V NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 CAGCCAGCGTCATCCTCTGTT 0.592000 14 38 0 0 0.004990 0 0 FFAR1 2864 broad.mit.edu 37 19 35842894 35842894 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:35842894C>T ENST00000246553.2 + 1 450 c.440C>T c.(439-441)cCa>cTa p.P147L NM_005303.2 NP_005294.1 O14842 FFAR1_HUMAN free fatty acid receptor 1 147 energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) TTGGAGGCTCCAGGAGGCTGG 0.672000 29 22 0 0 0.002096 0 0 GFM1 85476 broad.mit.edu 37 3 158363443 158363443 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:158363443C>T ENST00000486715.1 + 2 464 c.107C>T c.(106-108)tCt>tTt p.S36F GFM1_ENST00000264263.5_Missense_Mutation_p.S36F|GFM1_ENST00000478576.1_Missense_Mutation_p.S36F NM_024996.5 NP_079272.4 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 36 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TGCCGATGGTCTTCATCAGGG 0.373000 16 37 0 0 0.006122 0 0 SYT13 57586 broad.mit.edu 37 11 45274137 45274137 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:45274137G>A ENST00000020926.3 - 4 792 c.681C>T c.(679-681)ctC>ctT p.L227L NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 227 C2 1. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 CCGCCAGGGGGAGCACCAGGC 0.677000 OREG0020928 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 13 0 0 0.001786 0 0 PCNX 22990 broad.mit.edu 37 14 71543007 71543007 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:71543007C>T ENST00000304743.2 + 28 5654 c.5208C>T c.(5206-5208)gtC>gtT p.V1736V PCNX_ENST00000439984.3_Silent_p.V1625V|PCNX_ENST00000238570.5_Silent_p.V1664V NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1736 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GCAATTATGTCGATGTGGACC 0.448000 28 21 0 0 0.007291 0 0 SLC9A9 285195 broad.mit.edu 37 3 142985654 142985654 + Nonsense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:142985654T>A ENST00000316549.6 - 16 2036 c.1828A>T c.(1828-1830)Aaa>Taa p.K610* NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 610 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 GGTGAAGCTTTCTGGTCCAGA 0.512000 45 52 0 0 0.003610 0 0 ELL 8178 broad.mit.edu 37 19 18572430 18572430 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:18572430C>T ENST00000262809.4 - 5 773 c.702G>A c.(700-702)ctG>ctA p.L234L NM_006532.3 NP_006523.1 P55199 ELL_HUMAN elongation factor RNA polymerase II 234 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1) 19 GBM - Glioblastoma multiforme(1328;7.81e-07) CCGCCTGCGTCAGGCCGTCCT 0.657000 T MLL AL OREG0025366 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 28 0 0 0.004482 0 0 AKAP13 11214 broad.mit.edu 37 15 86205668 86205668 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:86205668G>A ENST00000361243.2 + 12 4876 c.4795G>A c.(4795-4797)Gac>Aac p.D1599N AKAP13_ENST00000394518.2_Intron|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_Intron NM_006738.4 NP_006729.4 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1596 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CCTGAGTGCTGACTTTAATTA 0.478000 15 186 0 0 0.004990 0 0 AKR1B15 441282 broad.mit.edu 37 7 134252964 134252964 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:134252964C>T ENST00000457545.2 + 4 465 c.205C>T c.(205-207)Cgc>Tgc p.R69C AKR1B15_ENST00000423958.1_Missense_Mutation_p.R41C NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 69 oxidoreductase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 TGCAGAATATCGCCACATTGA 0.438000 33 88 0 0 0.002445 0 0 DNAJC21 134218 broad.mit.edu 37 5 34945102 34945102 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:34945102G>A ENST00000382021.2 + 8 1341 c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K DNAJC21_ENST00000303525.7_Missense_Mutation_p.E372K|DNAJC21_ENST00000342382.4_Missense_Mutation_p.E372K NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 372 Glu-rich. protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) CAATTCTGAGGAAGAAATGGA 0.333000 67 26 0 0 0.003610 0 0 OR4E2 26686 broad.mit.edu 37 14 22134223 22134223 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22134223G>A ENST00000408935.1 + 1 927 c.927G>A c.(925-927)acG>acA p.T309T NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T309T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TTTTTTTCACGAAATCATATA 0.393000 14 15 0 0 0.004007 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162567 33162567 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:33162567G>A ENST00000510327.1 - 0 346 TTCGTACCAAGACCCTGGTGA 0.527000 26 12 0 0 0.001786 0 0 ZC3H13 23091 broad.mit.edu 37 13 46543368 46543368 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:46543368G>A ENST00000242848.4 - 14 3659 c.3311C>T c.(3310-3312)cCa>cTa p.P1104L ZC3H13_ENST00000282007.3_Missense_Mutation_p.P1104L|ZC3H13_ENST00000378921.2_Missense_Mutation_p.P60L Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1104 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) cacagGCGGTGGAGGAGGAAG 0.557000 8 26 0 0 0.003080 0 0 PCDH15 65217 broad.mit.edu 37 10 55583058 55583058 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:55583058C>T ENST00000361849.3 - 34 4828 c.4434G>A c.(4432-4434)agG>agA p.R1478R PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.R1453R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.R1473R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Silent_p.R1476R|PCDH15_ENST00000395432.2_Silent_p.R1436R|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Silent_p.R1407R NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1476 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTTGATGTTTCCTGTCTTCTG 0.383000 HNSCC(58;0.16) 41 32 0 0 0.003610 0 0 LTA 4049 broad.mit.edu 37 6 31541214 31541214 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:31541214C>T ENST00000454783.1 + 4 620 c.362C>T c.(361-363)tCt>tTt p.S121F LTA_ENST00000418386.2_Missense_Mutation_p.S121F NM_001159740.2 NP_001153212.1 P01374 TNFB_HUMAN lymphotoxin alpha 121 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) AAAGCCTACTCTCCCAAGGCC 0.572000 93 64 0 0 0.003610 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28327564 28327564 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:28327564C>T ENST00000377255.3 + 3 498 c.201C>T c.(199-201)ctC>ctT p.L67L ZKSCAN3_ENST00000252211.2_Silent_p.L67L|ZKSCAN3_ENST00000341464.5_Intron NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 67 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 TGAGTCGGCTCCGAGAGCTCT 0.667000 14 85 0 0 0.003163 0 0 HLX 3142 broad.mit.edu 37 1 221054566 221054566 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:221054566C>T ENST00000366903.6 + 2 2124 c.623C>T c.(622-624)cCc>cTc p.P208L NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 208 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) GGTGGGCGGCCCGCCGGGGTG 0.582000 58 53 0 0 0.003610 0 0 ZNF217 7764 broad.mit.edu 37 20 52192387 52192387 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:52192387G>A ENST00000371471.2 - 4 3341 c.2916C>T c.(2914-2916)ttC>ttT p.F972F ZNF217_ENST00000302342.3_Silent_p.F972F O75362 ZN217_HUMAN zinc finger protein 217 972 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) TGGAGCTCAGGAACCTTGGTT 0.552000 12 76 0 0 0.001368 0 0 EML3 256364 broad.mit.edu 37 11 62373192 62373192 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:62373192G>T ENST00000394773.2 - 15 2143 c.1836C>A c.(1834-1836)ttC>ttA p.F612L EML3_ENST00000529309.1_Missense_Mutation_p.F612L|EML3_ENST00000494176.2_Missense_Mutation_p.F584L|EML3_ENST00000531557.1_Missense_Mutation_p.F395L|EML3_ENST00000278845.4_Missense_Mutation_p.F613L NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 612 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CGCAGGTGAGGAAGCGGTTCT 0.642000 12 21 6.40141e-05 0.000103016 0.000978 1 0 FGA 2243 broad.mit.edu 37 4 155507767 155507767 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:155507767C>T ENST00000302053.3 - 5 892 c.814G>A c.(814-816)Gga>Aga p.G272R FGA_ENST00000403106.3_Missense_Mutation_p.G272R NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 272 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GTGGAGCCTCCTCGAGTAATC 0.542000 29 105 0 0 0.006320 0 0 ABHD14B 84836 broad.mit.edu 37 3 52003559 52003559 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:52003559C>T ENST00000315877.10 - 6 1203 c.510G>A c.(508-510)ctG>ctA p.L170L ABHD14B_ENST00000395008.2_Silent_p.L172L|ABHD14B_ENST00000487005.1_5'UTR|ABHD14B_ENST00000483233.1_Silent_p.L172L|ABHD14B_ENST00000525795.1_Silent_p.L172L|ABHD14B_ENST00000461108.1_3'UTR|ABHD14B_ENST00000361143.5_Silent_p.L172L|RP11-155D18.12_ENST00000488257.1_RNA Q96IU4 ABHEB_HUMAN abhydrolase domain containing 14B 172 cytoplasm|nucleus hydrolase activity large_intestine(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072) GCAGCTGCTTCAGGTGCTCAA 0.592000 31 84 0 0 0.005524 0 0 FCGBP 8857 broad.mit.edu 37 19 40363962 40363962 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:40363962C>T ENST00000221347.6 - 31 14687 c.14680G>A c.(14680-14682)Gac>Aac p.D4894N NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4894 VWFD 12. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ATGGAAAAGTCCTCGTCCCCA 0.582000 10 47 0 0 0.006214 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125521678 125521678 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:125521678C>T ENST00000431078.1 + 16 2848 c.2484C>T c.(2482-2484)ttC>ttT p.F828F NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 828 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CCGGAGTTTTCCTAGAAAATC 0.363000 22 71 0 0 0.003330 0 0 RYBP 23429 broad.mit.edu 37 3 72427681 72427681 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:72427681G>A ENST00000477973.1 - 4 806 c.807C>T c.(805-807)atC>atT p.I269I NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein 0 apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) TGAGGATGTCGATGAGGAGCG 0.547000 8 24 0 0 0.004482 0 0 PIGT 51604 broad.mit.edu 37 20 44052929 44052929 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:44052929C>T ENST00000279036.6 + 10 1388 c.1308C>T c.(1306-1308)gcC>gcT p.A436A PIGT_ENST00000545755.1_Silent_p.A174A|PIGT_ENST00000279035.9_Silent_p.A334A|PIGT_ENST00000372689.5_Silent_p.A369A|PIGT_ENST00000341555.5_Silent_p.A242A|PIGT_ENST00000543458.2_Silent_p.A380A|PIGT_ENST00000535404.1_Silent_p.A281A NM_015937.5 NP_057021.2 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, class T 436 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1) 22 Myeloproliferative disorder(115;0.0122) AGCTGCCGGCCAACTCAGTCA 0.582000 30 55 0 0 0.001512 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37421216 37421216 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:37421216A>T ENST00000374660.1 + 4 490 c.391A>T c.(391-393)Att>Ttt p.I131F ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I131F|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I131F Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 187 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAGTGAGCAAATTGTGGAATT 0.289000 36 37 0 0 0.003610 0 0 MAML3 55534 broad.mit.edu 37 4 140811508 140811508 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:140811508G>A ENST00000509479.2 - 2 1938 c.1082C>T c.(1081-1083)cCc>cTc p.P361L MAML3_ENST00000327122.5_Missense_Mutation_p.P205L NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 361 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) AGAGTGAGAGGGGTCGCTCTT 0.552000 12 50 0 0 0.001368 0 0 MIR517A 574479 broad.mit.edu 37 19 54215537 54215537 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:54215537C>T ENST00000385001.1 + 0 16 NR_030201.1 GGCAGTGACCCTCTAGATGGA 0.488000 25 55 0 0 0.003954 0 0 PLXDC2 84898 broad.mit.edu 37 10 20335829 20335829 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:20335829G>A ENST00000377252.3 + 3 1197 c.356G>A c.(355-357)cGa>cAa p.R119Q PLXDC2_ENST00000377242.3_Intron|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 119 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TATATATCTCGAATATATGGT 0.333000 34 21 0 0 0.006230 0 0 TENM2 57451 broad.mit.edu 37 5 167420138 167420138 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:167420138C>T ENST00000519204.1 + 4 892 c.774C>T c.(772-774)tcC>tcT p.S258S TENM2_ENST00000518659.1_Silent_p.S379S|TENM2_ENST00000520394.1_Silent_p.S188S|TENM2_ENST00000403607.2_Silent_p.S212S|TENM2_ENST00000545108.1_Silent_p.S379S teneurin transmembrane protein 2 p.S212S(1)|p.S379S(1)|p.S258S(1) CTGCCCTCTCCGCCATTGCCG 0.572000 10 81 0 0 0.000978 0 0 MCPH1 79648 broad.mit.edu 37 8 6338320 6338320 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:6338320C>T ENST00000344683.5 + 11 2135 c.2059C>T c.(2059-2061)Ctt>Ttt p.L687F NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 687 BRCT 2. microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) GACTCACGTGCTTTCCGGGAA 0.522000 16 12 0 0 0.004990 0 0 GUCY2F 2986 broad.mit.edu 37 X 108718802 108718802 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:108718802C>T ENST00000218006.2 - 2 655 c.364G>A c.(364-366)Gga>Aga p.G122R NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 122 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 CCAATAAATCCTGAGGCCATC 0.478000 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 116 118 0 0 0.003610 0 0 RANBP17 64901 broad.mit.edu 37 5 170667972 170667972 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:170667972G>A ENST00000523189.1 + 23 2627 c.2463G>A c.(2461-2463)caG>caA p.Q821Q RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 821 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAAAAGATCAGATTTATCCAA 0.413000 T TRD@ ALL 22 158 0 0 0.002299 0 0 ECH1 1891 broad.mit.edu 37 19 39306353 39306353 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:39306353G>A ENST00000221418.4 - 10 1119 c.887C>T c.(886-888)tCc>tTc p.S296F NM_001398.2 NP_001389.2 enoyl CoA hydratase 1, peroxisomal cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 6 all_cancers(60;9.36e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CATGTTCCAGGACGCCTGGTA 0.557000 11 26 0 0 0.001368 0 0 M1AP 130951 broad.mit.edu 37 2 74842118 74842118 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:74842118C>T ENST00000290536.5 - 3 515 c.399G>A c.(397-399)agG>agA p.R133R M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Silent_p.R133R|M1AP_ENST00000536235.1_Silent_p.R133R NM_138804.3 NP_620159.2 meiosis 1 associated protein TCAGAGCTGCCCTTGTGGTCA 0.488000 19 53 0 0 0.001216 0 0 MYH4 4622 broad.mit.edu 37 17 10354127 10354127 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10354127T>A ENST00000255381.2 - 29 4061 c.3951A>T c.(3949-3951)gaA>gaT p.E1317D CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1317 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCTTTAATTCTTCAATCTGTT 0.403000 25 61 0 0 0.004656 0 0 TSKS 60385 broad.mit.edu 37 19 50249871 50249871 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:50249871G>A ENST00000246801.3 - 6 930 c.848C>T c.(847-849)cCc>cTc p.P283L TSKS_ENST00000358830.3_Missense_Mutation_p.P83L NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 283 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) TGGCGGGCCGGGGCAGCCCTG 0.741000 7 21 0 0 0.001984 0 0 SOX5 6660 broad.mit.edu 37 12 24048856 24048856 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:24048856G>A ENST00000546136.1 - 1 104 c.102C>T c.(100-102)ctC>ctT p.L34L SOX5_ENST00000451604.2_Silent_p.L47L|SOX5_ENST00000545921.1_Silent_p.L37L|SOX5_ENST00000381381.2_Silent_p.L34L|SOX5_ENST00000541847.1_Silent_p.L37L|SOX5_ENST00000309359.1_Silent_p.L34L|SOX5_ENST00000541536.1_Silent_p.L34L|SOX5_ENST00000441133.2_Silent_p.L47L|SOX5_ENST00000537393.1_Silent_p.L47L P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 47 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 GAAAGGCTGGGAGCCCGTCAC 0.527000 27 129 0 0 0.003954 0 0 TRPC5 7224 broad.mit.edu 37 X 111195330 111195330 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:111195330C>T ENST00000262839.2 - 2 1237 c.319G>A c.(319-321)Gaa>Aaa p.E107K NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 107 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CCCACCACTTCCTTGCGTATG 0.537000 94 10 0 0 0.003610 0 0 FRY 10129 broad.mit.edu 37 13 32841341 32841341 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:32841341C>T ENST00000380250.3 + 55 8477 c.7981C>T c.(7981-7983)Ccc>Tcc p.P2661S FRY_ENST00000542859.1_Missense_Mutation_p.P31S NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2661 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTCTCCCCCTCCCTCGCCCTT 0.527000 27 53 0 0 0.001512 0 0 DNAH2 146754 broad.mit.edu 37 17 7701533 7701533 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7701533C>T ENST00000572933.1 + 54 9749 c.8289C>T c.(8287-8289)atC>atT p.I2763I DNAH2_ENST00000389173.2_Silent_p.I2763I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2763 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGGTGGGTATCGGGGGCAGCG 0.607000 19 57 0 0 0.001216 0 0 HBEGF 1839 broad.mit.edu 37 5 139722387 139722387 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:139722387G>A ENST00000230990.6 - 3 533 c.231C>T c.(229-231)tcC>tcT p.S77S HBEGF_ENST00000507104.1_Silent_p.S77S NM_001945.2 NP_001936.1 Q99075 HBEGF_HUMAN heparin-binding EGF-like growth factor 77 epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing cell surface|extracellular space|integral to plasma membrane epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1) 7 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGCTTGGAGGATAAAGTGA 0.458000 163 213 0 0 0.003610 0 0 RELN 5649 broad.mit.edu 37 7 103338393 103338393 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:103338393G>A ENST00000424685.2 - 10 1209 c.1050C>T c.(1048-1050)atC>atT p.I350I RELN_ENST00000343529.5_Silent_p.I350I|RELN_ENST00000428762.1_Silent_p.I350I P78509 RELN_HUMAN reelin 350 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGAATTGATGATCAAGATGT 0.463000 94 62 0 0 0.003610 0 0 ANO4 121601 broad.mit.edu 37 12 101520688 101520688 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:101520688C>T ENST00000392979.3 + 26 2964 c.2603C>T c.(2602-2604)tCa>tTa p.S868L ANO4_ENST00000550015.1_Missense_Mutation_p.S423L|ANO4_ENST00000299222.9_Missense_Mutation_p.S423L|ANO4_ENST00000392977.3_Missense_Mutation_p.S903L NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 903 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CACCTCATTTCATATCTGATC 0.443000 HNSCC(74;0.22) 21 5 0 0 0.002299 0 0 WDR33 55339 broad.mit.edu 37 2 128466316 128466316 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:128466316G>A ENST00000322313.4 - 21 3874 c.3716C>T c.(3715-3717)cCa>cTa p.P1239L NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1239 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) AGAAGTGCCTGGGCCATCATG 0.597000 18 74 0 0 0.001523 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203063 140203063 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140203063G>A ENST00000529859.1 + 1 1703 c.1703G>A c.(1702-1704)cGa>cAa p.R568Q PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R568Q|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R568Q|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGCCTCGAGTGGGTGGC 0.721000 17 77 0 0 0.006122 0 0 TLX1NB 100038246 broad.mit.edu 37 10 102849570 102849570 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:102849570C>T ENST00000445873.1 - 3 1369 c.93G>A c.(91-93)ggG>ggA p.G31G NM_001085398.1 NP_001078867.1 P0CAT3 TLXNB_HUMAN TLX1 neighbor 31 CTGCCCCCTCCCCAGGCCCCA 0.657000 5 8 0 0 0.000602 0 0 EGFR 1956 broad.mit.edu 37 7 55240814 55240814 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:55240814G>A ENST00000275493.2 + 17 2235 c.2058G>A c.(2056-2058)agG>agA p.R686R EGFR_ENST00000454757.2_Silent_p.R633R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.R641R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 686 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCAGGAGAGGGAGGTGAGTG 0.647000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 43 33 0 0 0.003610 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148743657 148743657 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:148743657C>T ENST00000514349.1 + 2 663 c.84C>T c.(82-84)ttC>ttT p.F28F PCYOX1L_ENST00000274569.4_Silent_p.F118F Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like 118 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAGCACTTCATGCTGGAGG 0.627000 30 36 0 0 0.001786 0 0 LGALS2 3957 broad.mit.edu 37 22 37966292 37966292 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:37966292G>A ENST00000215886.4 - 4 551 c.377C>T c.(376-378)tCc>tTc p.S126F NM_006498.2 NP_006489.1 P05162 LEG2_HUMAN lectin, galactoside-binding, soluble, 2 126 Galectin. breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1) 11 Melanoma(58;0.0574) CTTGAAAGAGGACATGTTGAA 0.517000 90 6 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9076840 9076840 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9076840G>A ENST00000397910.4 - 3 10809 c.10606C>T c.(10606-10608)Cca>Tca p.P3536S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3537 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGATACCTGGAGTAGGAGCT 0.532000 96 44 0 0 0.003610 0 0 ANK3 288 broad.mit.edu 37 10 61835032 61835032 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:61835032G>A ENST00000280772.1 - 37 5798 c.5607C>T c.(5605-5607)ttC>ttT p.F1869F ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1869 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AAGTTCGACTGAAGTGAGGCT 0.418000 25 61 0 0 0.004656 0 0 POTEC 388468 broad.mit.edu 37 18 14542672 14542672 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:14542672G>A ENST00000358970.5 - 1 473 c.474C>T c.(472-474)atC>atT p.I158I POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 158 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGAGCATGACGATGAGATCCT 0.582000 37 74 0 0 0.007835 0 0 LTBP3 4054 broad.mit.edu 37 11 65313968 65313968 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:65313968G>A ENST00000301873.5 - 16 2566 c.2298C>T c.(2296-2298)ttC>ttT p.F766F LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.F196F|LTBP3_ENST00000322147.4_Silent_p.F766F|LTBP3_ENST00000536982.1_Silent_p.F392F NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 766 Cys-rich.|EGF-like 6; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 AGGTGCAGCGGAAGGAGCCCG 0.746000 16 8 0 0 0.006122 0 0 TCP11L2 255394 broad.mit.edu 37 12 106715470 106715470 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:106715470C>T ENST00000546625.1 + 5 780 c.621C>T c.(619-621)atC>atT p.I207I TCP11L2_ENST00000547153.1_Silent_p.I207I|TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000299045.3_Silent_p.I207I Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 207 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 CTGGCAACATCGTGGAGGTGC 0.463000 56 9 0 0 0.003610 0 0 MPL 4352 broad.mit.edu 37 1 43818335 43818335 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:43818335G>A ENST00000372470.3 + 12 1842 c.1800G>A c.(1798-1800)ggG>ggA p.G600G NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 600 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTTGCCTGGGGACCATGCCCC 0.572000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 13 24 0 0 0.002450 0 0 GABRR3 200959 broad.mit.edu 37 3 97711711 97711711 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:97711711G>A ENST00000472788.1 - 0 1090 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 CTGTCTTCTTGAATTGTTTCC 0.473000 48 142 0 0 0.003610 0 0 THRAP3 9967 broad.mit.edu 37 1 36754862 36754862 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:36754862C>T ENST00000354618.5 + 5 1466 c.1242C>T c.(1240-1242)ctC>ctT p.L414L THRAP3_ENST00000469141.2_Silent_p.L414L NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 414 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGTATAAGCTCCGAGATGACT 0.438000 T USP6 aneurysmal bone cysts 20 34 0 0 0.001216 0 0 F2 2147 broad.mit.edu 37 11 46747445 46747445 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:46747445C>T ENST00000311907.5 + 7 652 c.596C>T c.(595-597)tCc>tTc p.S199F F2_ENST00000530231.1_Missense_Mutation_p.S199F NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 199 Cleavage; by thrombin. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) ACTCCACGCTCCGAAGGCTCC 0.612000 47 7 0 0 0.003610 0 0 BMP3 651 broad.mit.edu 37 4 81967643 81967643 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:81967643G>A ENST00000282701.2 + 2 1388 c.1068G>A c.(1066-1068)ctG>ctA p.L356L NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 356 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 AGCAGACCCTGAAAAAGGCAA 0.478000 15 24 0 0 0.002450 0 0 COX10-AS1 100874058 broad.mit.edu 37 17 13927894 13927894 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:13927894C>T ENST00000602743.1 - 0 224 GAGTGAGAGCCTTTTCTGACG 0.567000 7 16 0 0 0.002450 0 0 TFAP2B 7021 broad.mit.edu 37 6 50805795 50805795 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:50805795C>T ENST00000263046.4 + 6 1122 c.956C>T c.(955-957)tCc>tTc p.S319F TFAP2B_ENST00000393655.3_Missense_Mutation_p.S310F Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 310 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) TTACTCACCTCCCTGGTGGAA 0.483000 21 60 0 0 0.001523 0 0 TATDN3 128387 broad.mit.edu 37 1 212988386 212988386 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:212988386C>T ENST00000366974.4 + 10 807 c.713C>T c.(712-714)tCa>tTa p.S238L TATDN3_ENST00000531963.1_Intron|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Missense_Mutation_p.S245L|TATDN3_ENST00000366973.4_Missense_Mutation_p.S237L|TATDN3_ENST00000526641.1_Missense_Mutation_p.S217L|TATDN3_ENST00000526997.1_3'UTR NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1 NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 238 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|large_intestine(2)|lung(6) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) ATTTCTATTTCAGCAGAATAT 0.433000 46 134 0 0 0.002522 0 0 CDH23 64072 broad.mit.edu 37 10 73550937 73550937 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:73550937C>T ENST00000224721.6 + 46 6118 c.6113C>T c.(6112-6114)tCg>tTg p.S2038L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2033 Cadherin 19. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GAGGCATTCTCGCCACCCATC 0.622000 4 13 0 0 0.000248 0 0 COL11A1 1301 broad.mit.edu 37 1 103352475 103352475 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:103352475G>A ENST00000358392.2 - 63 5099 c.4782C>T c.(4780-4782)tcC>tcT p.S1594S COL11A1_ENST00000353414.4_Silent_p.S1543S|COL11A1_ENST00000370096.3_Silent_p.S1582S|COL11A1_ENST00000512756.1_Silent_p.S1466S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1582 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGGAATTGAGGGAACCAAATA 0.418000 23 47 0 0 0.002780 0 0 ASH1L 55870 broad.mit.edu 37 1 155451426 155451426 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:155451426G>T ENST00000368346.3 - 3 1874 c.1235C>A c.(1234-1236)cCt>cAt p.P412H ASH1L_ENST00000392403.3_Missense_Mutation_p.P412H|ASH1L_ENST00000548830.1_3'UTR Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 412 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ACCTGCCAAAGGACAACTCAT 0.438000 18 87 5.3912e-06 8.69903e-06 0.006122 1 0 SKAP1 8631 broad.mit.edu 37 17 46265269 46265269 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:46265269C>T ENST00000336915.6 - 6 447 c.378G>A c.(376-378)tcG>tcA p.S126S SKAP1_ENST00000584924.1_Silent_p.S126S|RP11-456D7.1_ENST00000582246.1_RNA NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 126 PH. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 TCTGCCACTCCGATCCAAAGA 0.413000 17 26 0 0 0.007413 0 0 LAMB3 3914 broad.mit.edu 37 1 209788715 209788715 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:209788715G>A ENST00000391911.1 - 22 3809 c.3420C>T c.(3418-3420)atC>atT p.I1140I LAMB3_ENST00000367030.3_Silent_p.I1140I|LAMB3_ENST00000356082.4_Silent_p.I1140I NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 1140 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AGCGCAGCATGATGGCCTGGC 0.587000 51 32 0 0 0.003610 0 0 LAMB4 22798 broad.mit.edu 37 7 107688391 107688391 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:107688391G>A ENST00000388781.3 - 28 4371 c.4288C>T c.(4288-4290)Cgt>Tgt p.R1430C LAMB4_ENST00000388780.3_Missense_Mutation_p.R1430C|LAMB4_ENST00000205386.4_Missense_Mutation_p.R1430C NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1430 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TCCAAATTACGAATAATGGAT 0.448000 128 17 0 0 0.003610 0 0 USP6 9098 broad.mit.edu 37 17 5076112 5076112 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:5076112G>A ENST00000574788.1 + 38 6290 c.4060G>A c.(4060-4062)Gat>Aat p.D1354N USP6_ENST00000304328.5_Missense_Mutation_p.D1037N|USP6_ENST00000250066.6_Missense_Mutation_p.D1354N|USP6_ENST00000332776.4_3'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 1354 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 ACTTCACCCTGATGAAATTGA 0.428000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 24 93 0 0 0.005443 0 0 SCAND3 114821 broad.mit.edu 37 6 28543719 28543719 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:28543719C>T ENST00000452236.2 - 3 1380 c.763G>A c.(763-765)Gaa>Aaa p.E255K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 255 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TCTTTCACTTCCTTTATCAAC 0.353000 21 117 0 0 0.001216 0 0 FAM188B 84182 broad.mit.edu 37 7 30825437 30825437 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:30825437C>T ENST00000265299.6 + 4 569 c.492C>T c.(490-492)ccC>ccT p.P164P INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 164 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAAGTAAGCCCATGCAGACGG 0.448000 36 118 0 0 0.003271 0 0 B4GALT6 9331 broad.mit.edu 37 18 29206973 29206973 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:29206973G>A ENST00000306851.5 - 7 1184 c.888C>T c.(886-888)gaC>gaT p.D296D B4GALT6_ENST00000237019.7_Silent_p.D257D|B4GALT6_ENST00000383131.3_Silent_p.D257D NM_004775.3 NP_004766.2 Q9UBX8 B4GT6_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 296 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1) 20 OV - Ovarian serous cystadenocarcinoma(10;0.00791) TGTTCCAAAGGTCATCATCTT 0.348000 12 51 0 0 0.002450 0 0 C9orf41 138199 broad.mit.edu 37 9 77613660 77613660 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:77613660G>A ENST00000376834.3 - 5 916 c.764C>T c.(763-765)cCt>cTt p.P255L C9orf41_ENST00000376837.3_3'UTR NM_152420.1 NP_689633.1 Q8N4J0 CI041_HUMAN chromosome 9 open reading frame 41 255 p.P255L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2) 17 ATGGATCCAAGGATAAAGTTT 0.348000 13 18 0 0 0.002450 0 0 OBSCN 84033 broad.mit.edu 37 1 228556502 228556502 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:228556502C>T ENST00000570156.2 + 100 22792 c.22718C>T c.(22717-22719)cCa>cTa p.P7573L OBSCN_ENST00000366707.4_Missense_Mutation_p.P4250L|OBSCN_ENST00000422127.1_Missense_Mutation_p.P6616L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6616 Fibronectin type-III 4. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AACATCACCCCAGCAGAGCTG 0.562000 38 170 0 0 0.005524 0 0 ALK 238 broad.mit.edu 37 2 29917858 29917858 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:29917858G>A ENST00000389048.3 - 3 1716 c.810C>T c.(808-810)ttC>ttT p.F270F ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 270 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCTCACAGGGGAAGTCAAAGC 0.562000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 21 65 0 0 0.002299 0 0 SPTA1 6708 broad.mit.edu 37 1 158584062 158584062 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158584062C>T ENST00000368148.3 - 49 7003 c.6823G>A c.(6823-6825)Gaa>Aaa p.E2275K SPTA1_ENST00000368147.3_Missense_Mutation_p.E2272K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2275 EF-hand 1. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GTGCTAAATTCCTTTAGAGTC 0.328000 47 19 0 0 0.003610 0 0 MXRA8 54587 broad.mit.edu 37 1 1289285 1289285 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:1289285C>T ENST00000309212.6 - 9 1276 c.1246G>A c.(1246-1248)Gag>Aag p.E416K MXRA8_ENST00000342753.4_Missense_Mutation_p.E315K|MXRA8_ENST00000445648.2_Missense_Mutation_p.E422K NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 416 integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCCGCCCTCTCCTTCAGGATG 0.647000 11 9 0 0 0.001855 0 0 ADCY8 114 broad.mit.edu 37 8 132051766 132051766 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:132051766C>T ENST00000286355.5 - 1 2906 c.814G>A c.(814-816)Ggc>Agc p.G272S ADCY8_ENST00000377928.3_Missense_Mutation_p.G272S NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 272 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGCACGTAGCCTATGCCGTCG 0.667000 HNSCC(32;0.087) 7 23 0 0 0.001984 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140772572 140772572 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140772572C>T ENST00000398604.2 + 1 192 c.192C>T c.(190-192)gtC>gtT p.V64V PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCACGGAGTCCGTATCGTCT 0.612000 45 21 0 0 0.003610 0 0 ABCA9 10350 broad.mit.edu 37 17 66982341 66982341 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:66982341C>T ENST00000340001.4 - 32 4383 c.4172G>A c.(4171-4173)gGt>gAt p.G1391D ABCA9_ENST00000370732.2_Missense_Mutation_p.G1391D|ABCA9_ENST00000453985.2_Missense_Mutation_p.G1353D NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1391 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TTTCCTGAGACCTTTCACGGC 0.587000 18 81 0 0 0.007413 0 0 OLFML2B 25903 broad.mit.edu 37 1 161970020 161970020 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:161970020G>A ENST00000294794.3 - 5 1255 c.832C>T c.(832-834)Ccc>Tcc p.P278S OLFML2B_ENST00000367940.2_Missense_Mutation_p.P279S NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 278 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CTCTGCAGGGGCCGCTGTGAC 0.602000 53 23 0 0 0.003610 0 0 IMMT 10989 broad.mit.edu 37 2 86400787 86400787 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:86400787G>A ENST00000410111.3 - 4 794 c.407C>T c.(406-408)cCa>cTa p.P136L IMMT_ENST00000254636.5_Missense_Mutation_p.P49L|IMMT_ENST00000409051.2_Missense_Mutation_p.P136L|IMMT_ENST00000442664.2_Missense_Mutation_p.P136L|IMMT_ENST00000449247.2_Missense_Mutation_p.P136L NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 136 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGCTGAAGCTGGAGTATCTCC 0.348000 13 10 0 0 0.001368 0 0 DHX29 54505 broad.mit.edu 37 5 54566508 54566508 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:54566508G>T ENST00000251636.5 - 19 3039 c.2891C>A c.(2890-2892)tCt>tAt p.S964Y RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 964 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) CTCCACCAAAGAACTCATCTG 0.428000 11 60 6.40141e-05 0.000103016 0.000978 1 0 MYH1 4619 broad.mit.edu 37 17 10415820 10415820 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10415820G>A ENST00000226207.5 - 12 1146 c.1052C>T c.(1051-1053)tCc>tTc p.S351F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 351 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTATAGATGGACACTCTTTC 0.438000 17 65 0 0 0.004990 0 0 AARD 441376 broad.mit.edu 37 8 117950577 117950577 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:117950577C>T ENST00000378279.3 + 1 140 c.95C>T c.(94-96)cCc>cTc p.P32L NM_001025357.2 NP_001020528.1 Q4LEZ3 AARD_HUMAN alanine and arginine rich domain containing protein 32 CCACCTCGTCCCGCGTGCGAC 0.692000 11 14 0 0 0.001368 0 0 ITPKC 80271 broad.mit.edu 37 19 41235203 41235203 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:41235203C>T ENST00000263370.2 + 3 1385 c.1352C>T c.(1351-1353)cCt>cTt p.P451L NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 451 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCGCTGCGACCTTTCGTGCCT 0.562000 17 35 0 0 0.001523 0 0 SCN5A 6331 broad.mit.edu 37 3 38620875 38620875 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:38620875C>T ENST00000413689.1 - 18 3533 c.3340G>A c.(3340-3342)Gac>Aac p.D1114N SCN5A_ENST00000414099.2_Missense_Mutation_p.D1114N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1114N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1113N|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1113N|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1113N|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1114N NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1114 D -> N (in LQT3). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGCCGCCAGTCGGCCTGAGAT 0.677000 8 5 0 0 0.003080 0 0 FAM13C 220965 broad.mit.edu 37 10 61029849 61029849 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:61029849C>T ENST00000373867.3 - 8 829 c.364G>A c.(364-366)Gat>Aat p.D122N FAM13C_ENST00000373868.2_Missense_Mutation_p.D205N|FAM13C_ENST00000419214.2_Missense_Mutation_p.D205N|FAM13C_ENST00000435852.2_Missense_Mutation_p.D205N|FAM13C_ENST00000277705.6_Missense_Mutation_p.D226N|FAM13C_ENST00000468840.2_Missense_Mutation_p.D122N|FAM13C_ENST00000422313.2_Missense_Mutation_p.D205N|FAM13C_ENST00000442566.3_Missense_Mutation_p.D226N NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 205 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TTCTGCCCATCTTTGTGGACT 0.493000 31 19 0 0 0.004878 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4475533 4475533 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:4475533C>T ENST00000301284.4 + 3 305 c.241C>T c.(241-243)Ctg>Ttg p.L81L HDGFRP2_ENST00000586684.1_Silent_p.L81L NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 81 transcription, DNA-dependent nucleus DNA binding|protein binding CAATGAAGGGCTGTGGGAGAT 0.577000 5 44 0 0 0.000602 0 0 TTLL2 83887 broad.mit.edu 37 6 167754894 167754894 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:167754894G>A ENST00000239587.5 + 3 1594 c.1506G>A c.(1504-1506)agG>agA p.R502R NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 502 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGTCAACAAGGGAGATGCCAC 0.562000 22 12 0 0 0.002299 0 0 ARHGAP5 394 broad.mit.edu 37 14 32561547 32561547 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:32561547C>T ENST00000345122.3 + 2 1987 c.1672C>T c.(1672-1674)Ctt>Ttt p.L558F ARHGAP5_ENST00000539826.2_Missense_Mutation_p.L558F|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.L558F|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.L558F|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 558 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AGAAACATGTCTTAGTGGCCA 0.368000 33 23 0 0 0.006230 0 0 NLRP9 338321 broad.mit.edu 37 19 56249719 56249719 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:56249719C>T ENST00000332836.2 - 1 49 c.22G>A c.(22-24)Gat>Aat p.D8N NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 8 DAPIN. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AAGCCAAAATCCGAAAAAAAA 0.403000 33 100 0 0 0.004289 0 0 CLTC 1213 broad.mit.edu 37 17 57738836 57738836 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:57738836G>A ENST00000269122.3 + 8 1474 c.1200G>A c.(1198-1200)cgG>cgA p.R400R CLTC_ENST00000393043.1_Silent_p.R400R|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 400 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTATCCGTCGGTTCCAGAGTG 0.448000 T """ALK, TFE3""" """ALCL, renal """ 48 92 0 0 0.003610 0 0 SULT1A1 6817 broad.mit.edu 37 16 28619681 28619681 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:28619681G>A ENST00000395609.1 - 6 1061 c.303C>T c.(301-303)gcC>gcT p.A101A SULT1A1_ENST00000395607.1_Silent_p.A101A|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000314752.7_Silent_p.A101A|SULT1A1_ENST00000569554.1_Silent_p.A101A P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 101 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 GGAGTCGTGGGGCCGGTGTGT 0.597000 33 76 0 0 0.004878 0 0 ACVRL1 94 broad.mit.edu 37 12 52309926 52309926 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:52309926C>T ENST00000550683.1 + 7 1298 c.1197C>T c.(1195-1197)atC>atT p.I399I ACVRL1_ENST00000419526.2_Silent_p.I211I|ACVRL1_ENST00000388922.4_Silent_p.I385I NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 385 Protein kinase. W -> S (in HHT2; dbSNP:rs28936402). blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) ACGAGCAGATCCGCACGGACT 0.607000 56 24 0 0 0.003610 0 0 KY 339855 broad.mit.edu 37 3 134323202 134323202 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:134323202A>G ENST00000508956.1 - 10 1199 c.1142T>C c.(1141-1143)tTg>tCg p.L381S KY_ENST00000423778.2_Missense_Mutation_p.L402S|KY_ENST00000503669.1_3'UTR Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 402 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 GTACACCTCCAACTTCATCCC 0.547000 19 59 0 0 0.007413 0 0 TRANK1 9881 broad.mit.edu 37 3 36873994 36873994 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:36873994C>T ENST00000301807.6 - 21 7195 c.5298G>A c.(5296-5298)agG>agA p.R1766R TRANK1_ENST00000428977.2_Silent_p.R1766R|TRANK1_ENST00000429976.2_Silent_p.R2316R NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2316 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CTTTGAGTTCCCTGTTGTAGT 0.512000 39 48 0 0 0.001951 0 0 NRG1 3084 broad.mit.edu 37 8 32617769 32617769 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:32617769C>T ENST00000338921.4 + 12 1654 c.1137C>T c.(1135-1137)atC>atT p.I379I NRG1_ENST00000539990.1_Silent_p.I214I|NRG1_ENST00000287842.3_Silent_p.I368I|NRG1_ENST00000523079.1_Silent_p.I368I|NRG1_ENST00000521670.1_Silent_p.I371I|NRG1_ENST00000356819.4_Silent_p.I376I|NRG1_ENST00000405005.2_Silent_p.I371I|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Silent_p.I371I|NRG1_ENST00000519301.1_Silent_p.I321I|NRG1_ENST00000287845.5_Silent_p.I342I Q02297 NRG1_HUMAN neuregulin 1 371 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) ACTCTGTAATCGTGATGTCAT 0.498000 33 75 0 0 0.002445 0 0 WDR96 80217 broad.mit.edu 37 10 105953682 105953682 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:105953682C>T ENST00000357060.3 - 11 1499 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K WDR96_ENST00000369720.1_Missense_Mutation_p.E393K|WDR96_ENST00000428666.1_Missense_Mutation_p.E463K|WDR96_ENST00000278064.2_Missense_Mutation_p.E393K NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 462 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TGAGGGGATTCCTTATCATAT 0.567000 17 51 0 0 0.004007 0 0 ZMYND10 51364 broad.mit.edu 37 3 50383008 50383008 + Translation_Start_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:50383008C>T ENST00000231749.3 - 1 1275 c.3G>A c.(1-3)atG>atA p.M1I ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Start_Codon_SNP_p.M1I NM_015896.2 NP_056980.2 O75800 ZMY10_HUMAN zinc finger, MYND-type containing 10 1 cytoplasm protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCAGGTCTCCCATATCGAGGC 0.682000 TSP Lung(30;0.18) 5 12 0 0 0.000602 0 0 PRRC2B 84726 broad.mit.edu 37 9 134366870 134366870 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:134366870C>T ENST00000357304.4 + 28 6339 c.6284C>T c.(6283-6285)tCt>tTt p.S2095F PRRC2B_ENST00000465931.1_3'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.S1401F|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S1401F|PRRC2B_ENST00000372249.1_Missense_Mutation_p.S192F NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 2095 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CTGCCCCAGTCTATTCAGCTG 0.642000 18 44 0 0 0.006122 0 0 SLC18A1 6570 broad.mit.edu 37 8 20022405 20022405 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:20022405G>A ENST00000440926.1 - 11 1460 c.990C>T c.(988-990)acC>acT p.T330T SLC18A1_ENST00000381608.4_Silent_p.T330T|SLC18A1_ENST00000437980.1_Silent_p.T330T|SLC18A1_ENST00000519026.1_Intron|SLC18A1_ENST00000265808.7_Intron|SLC18A1_ENST00000276373.5_Silent_p.T330T NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 330 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) GGGAGCACATGGTCTGCATCA 0.612000 10 9 0 0 0.000978 0 0 GPI 2821 broad.mit.edu 37 19 34890117 34890117 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:34890117C>T ENST00000415930.3 + 15 1478 c.1308C>T c.(1306-1308)ctC>ctT p.L436L GPI_ENST00000356487.5_Silent_p.L425L|GPI_ENST00000586425.1_Silent_p.L425L NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 425 L -> V (in Ref. 2; AAF22645). angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) ATCAGATCCTCCTGGCCAACT 0.597000 12 14 0 0 0.001855 0 0 PLXNA4 91584 broad.mit.edu 37 7 131887528 131887528 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:131887528G>A ENST00000359827.3 - 12 3425 c.2463C>T c.(2461-2463)ttC>ttT p.F821F PLXNA4_ENST00000321063.4_Silent_p.F821F Q9HCM2 PLXA4_HUMAN plexin A4 821 PSI 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AGCCACATGCGAAGTCTGGGT 0.637000 28 4 0 0 0.007291 0 0 STARD3 10948 broad.mit.edu 37 17 37817088 37817088 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:37817088C>T ENST00000336308.5 + 12 1198 c.980C>T c.(979-981)aCc>aTc p.T327I STARD3_ENST00000394250.4_Missense_Mutation_p.T309I|STARD3_ENST00000580611.1_Missense_Mutation_p.T301I|STARD3_ENST00000544210.2_Missense_Mutation_p.T327I NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 327 START. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GAAGACAACACCCTCATCTCC 0.632000 41 131 0 0 0.003214 0 0 LRFN5 145581 broad.mit.edu 37 14 42356404 42356404 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:42356404C>T ENST00000554171.1 + 5 3008 c.576C>T c.(574-576)tcC>tcT p.S192S LRFN5_ENST00000298119.4_Silent_p.S192S|LRFN5_ENST00000554120.1_Silent_p.S192S Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 192 integral to membrane p.S192S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GGACCTTCTCCCATTTGCACA 0.438000 HNSCC(30;0.082) 11 21 0 0 0.000978 0 0 MEGF8 1954 broad.mit.edu 37 19 42837848 42837848 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:42837848C>T ENST00000334370.4 + 2 914 c.279C>T c.(277-279)tcC>tcT p.S93S MEGF8_ENST00000251268.6_Silent_p.S93S NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 93 CUB 1. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) ACGGTGACTCCCCGCGAGGGC 0.617000 52 26 0 0 0.003610 0 0 GCKR 2646 broad.mit.edu 37 2 27745389 27745389 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:27745389C>T ENST00000264717.2 + 18 1698 c.1635C>T c.(1633-1635)ccC>ccT p.P545P GCKR_ENST00000424318.2_Silent_p.P355P NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 545 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TCCACTTTCCCCAGCCACTGT 0.542000 29 88 0 0 0.007291 0 0 ZNF594 84622 broad.mit.edu 37 17 5086309 5086309 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:5086309G>A ENST00000399604.4 - 1 1383 c.1243C>T c.(1243-1245)Cag>Tag p.Q415* ZNF594_ENST00000575779.1_Nonsense_Mutation_p.Q415* Q96JF6 ZN594_HUMAN zinc finger protein 594 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TCTGAGCTCTGATTGAAAGTT 0.413000 26 128 0 0 0.005443 0 0 MUC16 94025 broad.mit.edu 37 19 9056574 9056574 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9056574G>A ENST00000397910.4 - 3 31075 c.30872C>T c.(30871-30873)aCc>aTc p.T10291I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10293 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AACTCCAGTGGTGGCAAATGA 0.512000 24 55 0 0 0.004656 0 0 CSNK1A1P1 161635 broad.mit.edu 37 15 37110296 37110296 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:37110296C>T ENST00000430593.3 - 0 364 NR_027320.1 TTTATATTTCCTTCCGACAAT 0.537000 3 5 0 0 0.004672 0 0 CXorf22 170063 broad.mit.edu 37 X 36007618 36007618 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:36007618G>T ENST00000297866.5 + 16 2962 c.2896G>T c.(2896-2898)Ggg>Tgg p.G966W NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 966 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TGAATTTGTTGGGTATACACT 0.333000 8 20 3.09899e-07 5.00767e-07 0.004482 1 0 IGHV6-1 28385 broad.mit.edu 37 14 106406096 106406096 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:106406096C>T ENST00000390593.2 - 0 12 AGCCAGAATTCAGCAGGCTCT 0.577000 7 4 0 0 0.001984 0 0 B3GNT7 93010 broad.mit.edu 37 2 232263084 232263084 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:232263084G>A ENST00000287590.5 + 2 915 c.654G>A c.(652-654)aaG>aaA p.K218K NM_145236.2 NP_660279.1 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 218 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) TGACCCTCAAGGAGATCCACT 0.577000 38 65 0 0 0.003610 0 0 SPATA21 374955 broad.mit.edu 37 1 16736305 16736305 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:16736305G>A ENST00000335496.1 - 6 860 c.378C>T c.(376-378)agC>agT p.S126S SPATA21_ENST00000540400.1_Silent_p.S103S|SPATA21_ENST00000466212.1_5'UTR NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 126 Pro-rich. calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) TCTGAGGCAGGCTTGGAGCTG 0.706000 11 15 0 0 0.001368 0 0 TRPM2 7226 broad.mit.edu 37 21 45861646 45861646 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45861646G>A ENST00000397928.1 + 32 4903 c.4458G>A c.(4456-4458)gcG>gcA p.A1486A TRPM2_ENST00000397932.2_Silent_p.A1536A|TRPM2_ENST00000300482.5_Silent_p.A1486A|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.A1432A NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1486 Nudix hydrolase. integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CACTCTATGCGAACCACAAGA 0.637000 11 31 0 0 0.000673 0 0 CCDC141 285025 broad.mit.edu 37 2 179742691 179742691 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179742691C>T ENST00000409284.1 - 12 2016 c.1899G>A c.(1897-1899)atG>atA p.M633I CCDC141_ENST00000295723.5_Splice_Site_p.M58_splice|CCDC141_ENST00000420890.2_Splice_Site_p.M633_splice Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 58 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCATTCTTACCATATTTATTA 0.358000 9 29 0 0 0.004482 0 0 CREB3L3 84699 broad.mit.edu 37 19 4153747 4153747 + Translation_Start_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:4153747G>A ENST00000078445.2 + 1 150 c.3G>A c.(1-3)atG>atA p.M1I CREB3L3_ENST00000252587.3_5'UTR|CREB3L3_ENST00000602257.1_Start_Codon_SNP_p.M1I|CREB3L3_ENST00000595923.1_Start_Codon_SNP_p.M1I|CREB3L3_ENST00000602147.1_Start_Codon_SNP_p.M1I NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 1 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) ATGGACCCATGAATACGGATT 0.622000 15 5 0 0 0.006122 0 0 TBC1D16 125058 broad.mit.edu 37 17 77984358 77984358 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:77984358G>A ENST00000310924.2 - 3 495 c.380C>T c.(379-381)cCg>cTg p.P127L NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 127 intracellular Rab GTPase activator activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) CAGCTCCGTCGGGGAGGGCTG 0.701000 7 22 0 0 0.003080 0 0 TET3 200424 broad.mit.edu 37 2 74274974 74274974 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:74274974C>T ENST00000409262.3 + 1 1525 c.1525C>T c.(1525-1527)Cca>Tca p.P509S NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 509 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCAGGCTCATCCACCGGCCCC 0.642000 6 8 0 0 0.001168 0 0 SLC9A2 6549 broad.mit.edu 37 2 103236460 103236460 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:103236460C>T ENST00000233969.2 + 1 295 c.153C>T c.(151-153)agC>agT p.S51S NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 51 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GCCCGCCTAGCCCTGCGAGCG 0.677000 8 11 0 0 0.006214 0 0 PMFBP1 83449 broad.mit.edu 37 16 72163016 72163016 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:72163016C>T ENST00000537465.1 - 13 2072 c.1914G>A c.(1912-1914)atG>atA p.M638I PMFBP1_ENST00000237353.10_Missense_Mutation_p.M633I|PMFBP1_ENST00000355636.6_Missense_Mutation_p.M488I Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 638 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GTTCTCCCTCCATCAGCTTCT 0.493000 100 235 0 0 0.003610 0 0 NOTUM 147111 broad.mit.edu 37 17 79916235 79916235 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:79916235C>T ENST00000409678.3 - 5 951 c.568G>A c.(568-570)Ggg>Agg p.G190R NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 190 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GATGAAGCCCCGCTCCAAACA 0.647000 6 48 0 0 0.000673 0 0 TRPC6 7225 broad.mit.edu 37 11 101342876 101342876 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:101342876C>T ENST00000344327.3 - 8 2621 c.2197G>A c.(2197-2199)Gaa>Aaa p.E733K TRPC6_ENST00000348423.4_Missense_Mutation_p.E617K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E678K|TRPC6_ENST00000532133.1_Missense_Mutation_p.E655K NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 733 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding p.E733K(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) ACCTCAATTTCCTGGAATGAA 0.343000 20 83 0 0 0.001882 0 0 OR51E2 81285 broad.mit.edu 37 11 4703487 4703487 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:4703487G>A ENST00000396950.3 - 2 694 c.455C>T c.(454-456)tCc>tTc p.S152F NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) AAAAAAGAGGGATCCGCGGAC 0.542000 38 13 0 0 0.005524 0 0 TGM1 7051 broad.mit.edu 37 14 24731294 24731294 + Missense_Mutation SNP G G A rs146189995 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:24731294G>A ENST00000206765.6 - 2 388 c.265C>T c.(265-267)Cgg>Tgg p.R89W TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 89 Membrane anchorage region. cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) GATACAGGCCGGCGGGAGTCT 0.632000 20 86 0 0 0.001216 0 0 FBLN2 2199 broad.mit.edu 37 3 13612990 13612990 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:13612990G>T ENST00000404922.3 + 2 1254 c.1135G>T c.(1135-1137)Gac>Tac p.D379Y FBLN2_ENST00000535798.1_Missense_Mutation_p.D405Y|FBLN2_ENST00000492059.1_Missense_Mutation_p.D379Y|FBLN2_ENST00000295760.7_Missense_Mutation_p.D379Y NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 379 N.|Subdomain NB (Cys-free). proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CTCTCCCAGGGACCCAGTCAA 0.662000 6 15 5.18039e-06 8.36089e-06 0.003080 1 0 RALGAPA1 253959 broad.mit.edu 37 14 36064925 36064925 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:36064925G>A ENST00000258840.6 - 37 6137 c.5747C>T c.(5746-5748)cCa>cTa p.P1916L RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P1869L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1882L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1869L Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1869 Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP. activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGCAAAATATGGAGTGGTCAA 0.353000 20 51 0 0 0.001216 0 0 BNC1 646 broad.mit.edu 37 15 83936884 83936884 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:83936884C>T ENST00000345382.2 - 2 285 c.e2+1 RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Splice_Site NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 AATAAAGTTACCGTGGGCCAC 0.413000 38 41 0 0 0.002852 0 0 KRT78 196374 broad.mit.edu 37 12 53242527 53242527 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:53242527C>T ENST00000304620.4 - 1 251 c.188G>A c.(187-189)gGg>gAg p.G63E NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 63 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 AAACCGCACCCCCAGCCTACC 0.642000 9 13 0 0 0.004482 0 0 ARFIP1 27236 broad.mit.edu 37 4 153809445 153809445 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:153809445C>T ENST00000451320.2 + 8 1116 c.952C>T c.(952-954)Cta>Tta p.L318L ARFIP1_ENST00000405727.2_Silent_p.L286L|ARFIP1_ENST00000429148.2_Silent_p.L138L|ARFIP1_ENST00000356064.3_Silent_p.L286L|ARFIP1_ENST00000353617.2_Silent_p.L318L P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 318 AH. intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ARFIP1/FHDC1(2) cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(180;0.093) ATTGAAATTTCTAGAAGAAAA 0.348000 6 17 0 0 0.001168 0 0 PIF1 80119 broad.mit.edu 37 15 65113580 65113580 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:65113580C>T ENST00000268043.4 - 5 1051 c.957G>A c.(955-957)ctG>ctA p.L319L PIF1_ENST00000559239.1_Silent_p.L319L|PIF1_ENST00000333425.6_Silent_p.L319L Q9H611 PIF1_HUMAN PIF1 5'-to-3' DNA helicase 319 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 CCACGGCCTCCAGTTTGTCAA 0.607000 59 95 0 0 0.003610 0 0 GRHL2 79977 broad.mit.edu 37 8 102661702 102661702 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:102661702C>T ENST00000251808.3 + 14 2011 c.1673C>T c.(1672-1674)cCc>cTc p.P558L GRHL2_ENST00000395927.1_Missense_Mutation_p.P542L|GRHL2_ENST00000517674.1_Intron NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 558 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TTGAAGTCTCCCACAGTGAAG 0.522000 4 28 0 0 0.001168 0 0 ITGAX 3687 broad.mit.edu 37 16 31373212 31373212 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:31373212C>T ENST00000268296.4 + 10 1189 c.1068C>T c.(1066-1068)ttC>ttT p.F356F ITGAX_ENST00000562522.1_Silent_p.F356F NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 356 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 AGGAGGGCTTCAGCGCTGTGT 0.627000 27 69 0 0 0.006320 0 0 ANK3 288 broad.mit.edu 37 10 61932885 61932885 + Silent SNP G G A rs150715672 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:61932885G>A ENST00000280772.1 - 19 2435 c.2244C>T c.(2242-2244)ttC>ttT p.F748F ANK3_ENST00000503366.1_Silent_p.F731F|ANK3_ENST00000373827.2_Silent_p.F742F NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 748 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.F748F(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCTGGAGCAGGAAATTAACAA 0.338000 19 10 0 0 0.001882 0 0 OR51I1 390063 broad.mit.edu 37 11 5462354 5462354 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:5462354G>A ENST00000380211.1 - 1 390 c.391C>T c.(391-393)Cca>Tca p.P131S HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGCGTAATGGATAACAAATA 0.478000 26 7 0 0 0.005443 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21925999 21925999 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:21925999C>T ENST00000542643.2 - 23 2144 c.1842G>A c.(1840-1842)gaG>gaA p.E614E RAP1GAP_ENST00000374765.4_Silent_p.E588E|RAP1GAP_ENST00000290101.4_Silent_p.E652E|RAP1GAP_ENST00000374761.2_Silent_p.E619E|RAP1GAP_ENST00000374763.2_Silent_p.E673E NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 588 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GGCCTGTGTCCTCTCCGTCCA 0.657000 27 36 0 0 0.002096 0 0 DSP 1832 broad.mit.edu 37 6 7568687 7568687 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:7568687C>T ENST00000379802.3 + 11 1625 c.1284C>T c.(1282-1284)atC>atT p.I428I DSP_ENST00000418664.2_Silent_p.I428I NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 428 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAGAGAAAATCCTTGAATACA 0.378000 54 26 0 0 0.003610 0 0 ABCA4 24 broad.mit.edu 37 1 94544976 94544976 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:94544976G>A ENST00000370225.3 - 9 1227 c.1141C>T c.(1141-1143)Cct>Tct p.P381S ABCA4_ENST00000535735.1_Missense_Mutation_p.P381S NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 381 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TTGGTTAAAGGATTTGACTCC 0.448000 23 28 0 0 0.002299 0 0 MBD5 55777 broad.mit.edu 37 2 149226450 149226450 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:149226450C>T ENST00000407073.1 + 9 1935 c.938C>T c.(937-939)cCa>cTa p.P313L MBD5_ENST00000404807.1_Missense_Mutation_p.P313L NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 313 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATGAAAAAACCAATGTGTAAT 0.453000 11 30 0 0 0.000978 0 0 TENM3 55714 broad.mit.edu 37 4 183675719 183675719 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:183675719C>T ENST00000511685.1 + 22 4322 c.4199C>T c.(4198-4200)aCa>aTa p.T1400I TENM3_ENST00000406950.2_Missense_Mutation_p.T1400I|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 GCGGTGCAGACAACACTGGAA 0.512000 17 13 0 0 0.004990 0 0 ZNF597 146434 broad.mit.edu 37 16 3487251 3487251 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:3487251C>T ENST00000301744.4 - 4 683 c.448G>A c.(448-450)Gaa>Aaa p.E150K LA16c-306E5.2_ENST00000575785.1_RNA NM_152457.1 NP_689670.1 Q96LX8 ZN597_HUMAN zinc finger protein 597 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 TTGGCTCCTTCCCAGGGAGAA 0.383000 17 81 0 0 0.002299 0 0 ABHD12B 145447 broad.mit.edu 37 14 51368622 51368622 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:51368622G>A ENST00000337334.2 + 10 871 c.856G>A c.(856-858)Gat>Aat p.D286N ABHD12B_ENST00000395752.1_Missense_Mutation_p.D179N|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.D209N NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B 286 hydrolase activity breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) CTTTCCTAATGATGAAAAGTA 0.318000 8 3 0 0 0.006214 0 0 CAMTA2 23125 broad.mit.edu 37 17 4883402 4883402 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:4883402G>A ENST00000361571.5 - 8 1623 c.1212C>T c.(1210-1212)gcC>gcT p.A404A CAMTA2_ENST00000381311.5_Silent_p.A407A|CAMTA2_ENST00000414043.3_Silent_p.A428A|CAMTA2_ENST00000348066.3_Silent_p.A405A|CAMTA2_ENST00000358183.4_Silent_p.A405A|CAMTA2_ENST00000572543.1_Silent_p.A410A NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 405 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GGGTATGAGCGGCCTCTGCCT 0.642000 28 31 0 0 0.007291 0 0 STAT3 6774 broad.mit.edu 37 17 40474506 40474506 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:40474506G>A ENST00000264657.5 - 21 2207 c.1895C>T c.(1894-1896)aCc>aTc p.T632I STAT3_ENST00000389272.3_Missense_Mutation_p.T534I|STAT3_ENST00000588969.1_Missense_Mutation_p.T632I|STAT3_ENST00000404395.3_Missense_Mutation_p.T632I|STAT3_ENST00000585517.1_Missense_Mutation_p.T632I NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 632 SH2. cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CTGGATCTGGGTCTTACCTGT 0.448000 Hyperimmunoglobulin E Recurrent Infection Syndrome 30 145 0 0 0.002445 0 0 PLAGL2 5326 broad.mit.edu 37 20 30784839 30784839 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:30784839G>A ENST00000246229.4 - 3 1171 c.907C>T c.(907-909)Cct>Tct p.P303S NM_002657.3 NP_002648.1 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 303 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGCATGGTAGGGATGTGGGCA 0.612000 65 90 0 0 0.003610 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26877901 26877901 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:26877901C>T ENST00000374168.2 + 5 475 c.321C>T c.(319-321)gtC>gtT p.V107V RPS6KA1_ENST00000374162.2_Silent_p.V15V|RPS6KA1_ENST00000530003.1_Silent_p.V91V|RPS6KA1_ENST00000526792.1_Silent_p.V15V|RPS6KA1_ENST00000374166.4_Silent_p.V107V|RPS6KA1_ENST00000531382.1_Silent_p.V116V NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 107 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GTGACCGCGTCCGGACCAAGA 0.552000 11 19 0 0 0.002450 0 0 GTDC1 79712 broad.mit.edu 37 2 144899570 144899570 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:144899570G>A ENST00000409214.1 - 6 678 c.400C>T c.(400-402)Ctc>Ttc p.L134F GTDC1_ENST00000392867.3_Missense_Mutation_p.L134F|GTDC1_ENST00000463875.2_Missense_Mutation_p.L5F|GTDC1_ENST00000344850.4_Missense_Mutation_p.L134F|GTDC1_ENST00000241391.5_Missense_Mutation_p.L134F|GTDC1_ENST00000542155.1_Missense_Mutation_p.L134F|GTDC1_ENST00000409298.1_Missense_Mutation_p.L134F|GTDC1_ENST00000392869.1_Missense_Mutation_p.L134F NM_001006636.3 NP_001006637.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 134 biosynthetic process transferase activity, transferring glycosyl groups central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) ATGGAAGTGAGAAATGATTCC 0.403000 24 20 0 0 0.003330 0 0 IRX1 79192 broad.mit.edu 37 5 3599525 3599525 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:3599525C>T ENST00000302006.3 + 2 515 c.463C>T c.(463-465)Ccc>Tcc p.P155S CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 155 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GAATCCCTACCCCACCAAGGG 0.642000 16 76 0 0 0.004990 0 0 XIRP2 129446 broad.mit.edu 37 2 168102538 168102538 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:168102538G>A ENST00000409195.1 + 9 4725 c.4636G>A c.(4636-4638)Gaa>Aaa p.E1546K XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1324K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1546K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1371 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGAAAAGATAGAAATTATTGG 0.373000 10 34 0 0 0.000978 0 0 SPTLC3 55304 broad.mit.edu 37 20 13029765 13029765 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:13029765G>A ENST00000399002.2 + 2 564 c.290G>A c.(289-291)aGa>aAa p.R97K SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Missense_Mutation_p.R97K NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 97 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GCTGTGGAAAGAAAAGAACAA 0.428000 46 16 0 0 0.002852 0 0 SLTM 79811 broad.mit.edu 37 15 59179506 59179506 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:59179506G>A ENST00000380516.2 - 18 2696 c.2609C>T c.(2608-2610)cCt>cTt p.P870L SLTM_ENST00000536328.1_Missense_Mutation_p.P439L NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 870 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGCCTCTCGAGGATGTCTAGG 0.498000 25 171 0 0 0.003330 0 0 PRDM2 7799 broad.mit.edu 37 1 14108590 14108590 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:14108590C>T ENST00000235372.7 + 8 5156 c.4300C>T c.(4300-4302)Ctt>Ttt p.L1434F PRDM2_ENST00000413440.1_Missense_Mutation_p.L1233F|PRDM2_ENST00000343137.4_Missense_Mutation_p.L1233F|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.L1434F NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1434 Arg/Lys-rich (basic). Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GAAAGCAATTCTTCAGAAAAA 0.373000 48 69 0 0 0.003610 0 0 CCDC141 285025 broad.mit.edu 37 2 179702159 179702159 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179702159C>T ENST00000420890.2 - 23 3904 c.3787G>A c.(3787-3789)Gaa>Aaa p.E1263K CCDC141_ENST00000295723.5_Missense_Mutation_p.E688K|CCDC141_ENST00000480419.1_5'UTR NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 688 protein binding p.E688K(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) AGAACAGATTCCTGGGCATCC 0.522000 12 27 0 0 0.002450 0 0 TTC26 79989 broad.mit.edu 37 7 138819480 138819480 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:138819480C>T ENST00000464848.1 + 2 163 c.83C>T c.(82-84)cCa>cTa p.P28L TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.P28L|TTC26_ENST00000478836.2_Missense_Mutation_p.P28L|TTC26_ENST00000343187.4_Missense_Mutation_p.P28L|TTC26_ENST00000495038.1_Missense_Mutation_p.P28L|TTC26_ENST00000430935.1_Missense_Mutation_p.P28L A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 28 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 AGGAAGATTCCAAAACTAGAG 0.423000 16 47 0 0 0.003163 0 0 PHF21B 112885 broad.mit.edu 37 22 45312464 45312464 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:45312464C>T ENST00000313237.5 - 4 410 c.260G>A c.(259-261)gGc>gAc p.G87D PHF21B_ENST00000447824.3_Missense_Mutation_p.G75D|PHF21B_ENST00000396103.3_Missense_Mutation_p.G87D|PHF21B_ENST00000404079.2_Missense_Mutation_p.G75D|PHF21B_ENST00000403565.1_5'UTR NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 87 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CCGGTCCCGGCCCGGGGCAAC 0.632000 60 25 0 0 0.003610 0 0 FAM83B 222584 broad.mit.edu 37 6 54735289 54735289 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:54735289C>T ENST00000306858.7 + 2 361 c.245C>T c.(244-246)tCc>tTc p.S82F NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 82 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) ACTGATGATTCCTGTGATGAT 0.433000 28 170 0 0 0.002445 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35972665 35972665 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:35972665G>A ENST00000325722.3 - 3 448 c.214C>T c.(214-216)Cac>Tac p.H72Y NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 72 MANSC. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGCCAGAGGTGATTTTCTCCC 0.512000 28 52 0 0 0.007291 0 0 CAPN15 6650 broad.mit.edu 37 16 596994 596994 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:596994C>T ENST00000219611.2 + 4 519 c.156C>T c.(154-156)cgC>cgT p.R52R NM_005632.2 NP_005623.1 calpain 15 CCTGCGCCCGCTGCACCTTCC 0.692000 9 20 0 0 0.006214 0 0 KIF1B 23095 broad.mit.edu 37 1 10381874 10381874 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:10381874C>T ENST00000377086.1 + 24 2519 c.2317C>T c.(2317-2319)Cta>Tta p.L773L KIF1B_ENST00000377081.1_Silent_p.L773L|KIF1B_ENST00000263934.6_Silent_p.L727L O60333 KIF1B_HUMAN kinesin family member 1B 773 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TGCCGTGTACCTAAAGGAGGC 0.517000 14 28 0 0 0.002450 0 0 ANK3 288 broad.mit.edu 37 10 61835477 61835477 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:61835477G>A ENST00000280772.1 - 37 5353 c.5162C>T c.(5161-5163)tCc>tTc p.S1721F ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1721 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTTAGAGGGGAAATAGATCC 0.408000 10 48 0 0 0.001368 0 0 CCP110 9738 broad.mit.edu 37 16 19554064 19554064 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:19554064C>T ENST00000396212.2 + 8 2785 c.2349C>T c.(2347-2349)gcC>gcT p.A783A CCP110_ENST00000381396.5_Silent_p.A783A|CCP110_ENST00000396208.2_Silent_p.A783A NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 783 Calmodulin-binding. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 TTGGAAGAGCCAAAACTAGAT 0.368000 10 22 0 0 0.000978 0 0 FCRL4 83417 broad.mit.edu 37 1 157559215 157559215 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:157559215G>A ENST00000271532.1 - 3 221 c.86C>T c.(85-87)cCt>cTt p.P29L NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 29 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GGTCCATGGAGGATGGACGGA 0.493000 35 13 0 0 0.003271 0 0 MUS81 80198 broad.mit.edu 37 11 65631084 65631084 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:65631084C>T ENST00000308110.4 + 9 1202 c.853C>T c.(853-855)Ccg>Tcg p.P285S MUS81_ENST00000533035.1_Missense_Mutation_p.P210S NM_025128.4 NP_079404.3 Q96NY9 MUS81_HUMAN MUS81 structure-specific endonuclease subunit 285 ERCC4. DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 13 READ - Rectum adenocarcinoma(159;0.166) CGGGCACAGGCCGGAGCTGCT 0.632000 Homologous recombination 11 3 0 0 0.000978 0 0 CYP2A7 1549 broad.mit.edu 37 19 41383128 41383128 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:41383128C>T ENST00000301146.4 - 7 1669 c.1128G>A c.(1126-1128)aaG>aaA p.K376K CYP2A7_ENST00000291764.3_Silent_p.K325K|CTC-490E21.12_ENST00000601627.1_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 376 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ACTTGGTGTCCTTTTTAACCC 0.542000 24 83 0 0 0.004656 0 0 ZNF512B 57473 broad.mit.edu 37 20 62598735 62598735 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:62598735G>A ENST00000450537.1 - 3 323 c.264_splice c.e3+1 p.P88_splice ZNF512B_ENST00000369888.1_Splice_Site_p.P88_splice|ZNF512B_ENST00000217130.3_Splice_Site_p.P88_splice Q96KM6 Z512B_HUMAN zinc finger protein 512B 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GGAGCTCACAGGAATGTCTCG 0.597000 23 168 0 0 0.004656 0 0 FMN2 56776 broad.mit.edu 37 1 240286552 240286552 + Silent SNP C C T rs141488751 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:240286552C>T ENST00000319653.9 + 2 1919 c.1689C>T c.(1687-1689)tcC>tcT p.S563S NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 563 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGTTTTGCTCCCGGATCATTG 0.493000 44 40 0 0 0.002222 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958516 50958516 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:50958516C>T ENST00000357701.5 + 19 2217 c.2166C>T c.(2164-2166)tcC>tcT p.S722S NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 722 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TAGGGGTCTCCCAGCCCAGCA 0.488000 30 101 0 0 0.005524 0 0 PLCH1 23007 broad.mit.edu 37 3 155211982 155211982 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:155211982G>A ENST00000460012.1 - 17 2397 c.2040C>T c.(2038-2040)ttC>ttT p.F680F PLCH1_ENST00000447496.2_Silent_p.F698F|PLCH1_ENST00000494598.1_Silent_p.F698F|PLCH1_ENST00000334686.6_Silent_p.F680F|PLCH1_ENST00000414191.1_Silent_p.F680F|PLCH1_ENST00000340059.7_Silent_p.F698F Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 698 PI-PLC Y-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity p.F698F(1)|p.F680F(1) NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CATTTGCCTTGAATTTGGCTC 0.408000 18 68 0 0 0.001523 0 0 GRIA3 2892 broad.mit.edu 37 X 122538605 122538605 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:122538605G>A ENST00000264357.5 + 10 1632 c.1340G>A c.(1339-1341)gGa>gAa p.G447E GRIA3_ENST00000542149.1_Missense_Mutation_p.G447E|GRIA3_ENST00000371251.1_Missense_Mutation_p.G447E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G431E|GRIA3_ENST00000371256.5_Missense_Mutation_p.G447E NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 447 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CAACTGGAAGGAAATGAACGA 0.373000 33 3 0 0 0.004878 0 0 EFHD2 79180 broad.mit.edu 37 1 15752508 15752508 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:15752508C>T ENST00000375980.4 + 2 527 c.450C>T c.(448-450)ttC>ttT p.F150F NM_024329.5 NP_077305.2 Q96C19 EFHD2_HUMAN EF-hand domain family, member D2 150 EF-hand 2. membrane raft large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) AGCTGAGCTTCCGGGAGGTAA 0.587000 7 17 0 0 0.004482 0 0 DNM3 26052 broad.mit.edu 37 1 172100375 172100375 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:172100375G>A ENST00000358155.4 + 14 1782 c.1606G>A c.(1606-1608)Gga>Aga p.G536R DNM3_ENST00000520906.1_Missense_Mutation_p.G536R|DNM3_ENST00000355305.5_Missense_Mutation_p.G546R|DNM3_ENST00000367733.2_Missense_Mutation_p.G536R|DNM3_ENST00000367731.1_Missense_Mutation_p.G536R NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 546 PH. endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CGGCTCGAAGGGATACTGGTT 0.433000 6 42 0 0 0.003080 0 0 XPO6 23214 broad.mit.edu 37 16 28181102 28181102 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:28181102G>A ENST00000304658.5 - 5 1034 c.534C>T c.(532-534)gaC>gaT p.D178D XPO6_ENST00000565698.1_Silent_p.D164D NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 178 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 TCTGCACCTGGTCCAGTAGCA 0.577000 33 34 0 0 0.003271 0 0 PLK2 10769 broad.mit.edu 37 5 57751513 57751513 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:57751513G>A ENST00000274289.3 - 11 1778 c.1478C>T c.(1477-1479)cCc>cTc p.P493L PLK2_ENST00000502671.1_Intron NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 493 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) CTGCTCTTTGGGAATGCAATC 0.493000 17 20 0 0 0.007413 0 0 AKAP6 9472 broad.mit.edu 37 14 33291517 33291517 + Missense_Mutation SNP C C T rs74976151 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:33291517C>T ENST00000280979.4 + 13 4668 c.4498C>T c.(4498-4500)Cgt>Tgt p.R1500C AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1500 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCCCCTGCTTCGTGGTTTTTA 0.378000 12 28 0 0 0.000978 0 0 NCR1 9437 broad.mit.edu 37 19 55420851 55420851 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55420851C>T ENST00000594765.1 + 4 628 c.603C>T c.(601-603)ttC>ttT p.F201F NCR1_ENST00000350790.5_Silent_p.F106F|NCR1_ENST00000598576.1_Silent_p.F189F|NCR1_ENST00000338835.5_Silent_p.F201F|NCR1_ENST00000291890.4_Silent_p.F201F|NCR1_ENST00000447255.1_Silent_p.F201F|NCR1_ENST00000357397.5_Silent_p.F94F O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 201 Ig-like 2. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) CCTGGTCTTTCCCCAGTGAGC 0.602000 14 49 0 0 0.004990 0 0 NRXN2 9379 broad.mit.edu 37 11 64402788 64402788 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:64402788C>T ENST00000265459.6 - 18 4001 c.3540G>A c.(3538-3540)cgG>cgA p.R1180R NRXN2_ENST00000409571.1_Silent_p.R1173R|NRXN2_ENST00000377551.1_Silent_p.R1180R|NRXN2_ENST00000301894.2_Silent_p.R134R|NRXN2_ENST00000377559.3_Silent_p.R1140R NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1180 Laminin G-like 6. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CGCTGTCCACCCGCACCAGCA 0.637000 17 23 0 0 0.004990 0 0 PDIA6 10130 broad.mit.edu 37 2 10927411 10927411 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:10927411G>A ENST00000404371.2 - 13 1646 c.1309C>T c.(1309-1311)Ctc>Ttc p.L437F PDIA6_ENST00000540494.1_Missense_Mutation_p.L382F|PDIA6_ENST00000272227.3_Missense_Mutation_p.L385F|PDIA6_ENST00000404824.2_Missense_Mutation_p.L433F|PDIA6_ENST00000381611.4_Missense_Mutation_p.L390F Q15084 PDIA6_HUMAN protein disulfide isomerase family A, member 6 385 cell redox homeostasis|glycerol ether metabolic process|protein folding endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2) 18 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) AATTACCTGAGAAACTCGTTG 0.418000 14 49 0 0 0.004990 0 0 TGFBI 7045 broad.mit.edu 37 5 135390407 135390407 + Nonsense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:135390407G>T ENST00000442011.2 + 10 1428 c.1267G>T c.(1267-1269)Gga>Tga p.G423* TGFBI_ENST00000305126.8_Nonsense_Mutation_p.G423* NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 423 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCTTGTAGATGGAACCCCTCC 0.458000 8 342 0.00448238 0.00716665 0.004482 1 0 KLK5 25818 broad.mit.edu 37 19 51452358 51452358 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:51452358G>A ENST00000336334.3 - 4 701 c.349C>T c.(349-351)Cgt>Tgt p.R117C KLK5_ENST00000593428.1_Missense_Mutation_p.R117C|KLK5_ENST00000391809.2_Missense_Mutation_p.R117C NM_012427.4 NP_036559.1 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 117 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) TGGCCGAGACGGACTCTGAAA 0.592000 29 58 0 0 0.002836 0 0 NRF1 4899 broad.mit.edu 37 7 129350218 129350218 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:129350218C>T ENST00000393232.1 + 7 887 c.770C>T c.(769-771)tCa>tTa p.S257L NRF1_ENST00000311967.2_Missense_Mutation_p.S257L|NRF1_ENST00000393230.2_Missense_Mutation_p.S257L|NRF1_ENST00000539636.1_Missense_Mutation_p.S96L|NRF1_ENST00000223190.4_Missense_Mutation_p.S257L|NRF1_ENST00000393231.3_Missense_Mutation_p.S257L|NRF1_ENST00000353868.4_Intron NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 257 generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 TGACAGGTTTCATGGACCCAG 0.408000 91 12 0 0 0.003610 0 0 NPRL3 8131 broad.mit.edu 37 16 167370 167370 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:167370G>A ENST00000399953.3 - 4 725 c.323C>T c.(322-324)tCc>tTc p.S108F NPRL3_ENST00000399951.3_Intron|NPRL3_ENST00000405960.3_5'UTR NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1 NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1 Q12980 NPRL3_HUMAN nitrogen permease regulator-like 3 (S. cerevisiae) 108 protein binding endometrium(1)|large_intestine(3)|ovary(2) 6 ATCTGTTTTGGAGATCTGTAA 0.383000 4 9 0 0 0.000602 0 0 NES 10763 broad.mit.edu 37 1 156639569 156639569 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:156639569C>A ENST00000368223.3 - 4 4543 c.4411G>T c.(4411-4413)Gac>Tac p.D1471Y NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1471 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTCAAGCTGTCATCCCAGGGG 0.612000 17 51 2.39187e-15 3.89147e-15 0.001216 1 0 OR1M1 125963 broad.mit.edu 37 19 9204289 9204289 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9204289C>T ENST00000429566.3 + 1 435 c.369C>T c.(367-369)ttC>ttT p.F123F NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 ATGACCGGTTCGTGGCCATCT 0.552000 43 44 0 0 0.007835 0 0 EXOC4 60412 broad.mit.edu 37 7 133041131 133041131 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:133041131C>T ENST00000253861.4 + 6 840 c.811C>T c.(811-813)Cca>Tca p.P271S EXOC4_ENST00000539845.1_Missense_Mutation_p.P170S|EXOC4_ENST00000393161.2_Missense_Mutation_p.P271S NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 271 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) AGAATTGGATCCAGAGGAAAA 0.398000 12 74 0 0 0.001855 0 0 JAM2 58494 broad.mit.edu 37 21 27062200 27062200 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:27062200C>T ENST00000480456.1 + 3 706 c.156C>T c.(154-156)acC>acT p.T52T JAM2_ENST00000312957.5_Silent_p.T52T|JAM2_ENST00000400532.1_Silent_p.T52T|JAM2_ENST00000425221.2_Intron NM_001270407.1|NM_021219.3 NP_001257336.1|NP_067042.1 P57087 JAM2_HUMAN junctional adhesion molecule 2 52 Ig-like V-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 CCTGCAAAACCCCAAAGAAGA 0.378000 31 92 0 0 0.006230 0 0 TULP2 7288 broad.mit.edu 37 19 49388798 49388798 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:49388798C>T ENST00000221399.3 - 9 1112 c.968G>A c.(967-969)cGa>cAa p.R323Q NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 323 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) TCTTCTCTTTCGCCCAGCCAG 0.512000 15 40 0 0 0.002450 0 0 OR2G2 81470 broad.mit.edu 37 1 247752288 247752288 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:247752288C>T ENST00000320065.1 + 1 627 c.627C>T c.(625-627)ttC>ttT p.F209F RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTATCCTTTTCCTTATAGTGC 0.498000 44 33 0 0 0.003610 0 0 ZNF213 7760 broad.mit.edu 37 16 3190720 3190720 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:3190720C>T ENST00000396878.3 + 6 1227 c.752C>T c.(751-753)tCc>tTc p.S251F ZNF213_ENST00000576416.1_Missense_Mutation_p.S251F|ZNF213_ENST00000574902.1_Missense_Mutation_p.S251F|ZNF213_ENST00000416391.2_Missense_Mutation_p.S93F NM_001134655.1|NM_004220.2 NP_001128127.1|NP_004211.1 O14771 ZN213_HUMAN zinc finger protein 213 251 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 AGTGAGAAGTCCCTGCTGCAG 0.627000 37 34 0 0 0.002222 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086976 39086976 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:39086976C>T ENST00000400482.3 - 3 1073 c.484G>A c.(484-486)Gat>Aat p.D162N KCNJ6_ENST00000288309.6_Missense_Mutation_p.D162N NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 162 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GGGCATTTATCTGTGATGACC 0.428000 16 61 0 0 0.001216 0 0 KIAA2022 340533 broad.mit.edu 37 X 73959966 73959966 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:73959966C>T ENST00000373468.1 - 3 5077 c.4426G>A c.(4426-4428)Gag>Aag p.E1476K KIAA2022_ENST00000055682.5_Missense_Mutation_p.E1476K Q5QGS0 K2022_HUMAN KIAA2022 1476 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GTCCCAGACTCATCCTTGTGG 0.478000 36 5 0 0 0.001951 0 0 CNKSR1 10256 broad.mit.edu 37 1 26508985 26508985 + Silent SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:26508985T>A ENST00000361530.6 + 6 679 c.534T>A c.(532-534)gcT>gcA p.A178A CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Silent_p.A178A|CNKSR1_ENST00000480348.2_3'UTR Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 178 Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) GCCACGTGGCTGGGATCTGCC 0.642000 10 17 0 0 0.006214 0 0 SLC27A5 10998 broad.mit.edu 37 19 59022196 59022196 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:59022196G>A ENST00000263093.2 - 2 899 c.790C>T c.(790-792)Ctg>Ttg p.L264L SLC27A5_ENST00000601355.1_Silent_p.L180L NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 264 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GCAGCCCCCAGAGCCCCCACC 0.642000 13 24 0 0 0.002450 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36250735 36250735 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:36250735C>T ENST00000315571.5 + 6 847 c.826C>T c.(826-828)Ccg>Tcg p.P276S LDLRAD3_ENST00000528989.1_Missense_Mutation_p.P227S|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.P266S NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 276 Poly-Pro. integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) CCTTCCTCCACCGCCCTACTC 0.617000 105 26 0 0 0.003610 0 0 IL5RA 3568 broad.mit.edu 37 3 3139581 3139581 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:3139581C>T ENST00000446632.2 - 7 1256 c.682G>A c.(682-684)Gat>Aat p.D228N IL5RA_ENST00000438560.1_Missense_Mutation_p.D228N|IL5RA_ENST00000456302.1_Missense_Mutation_p.D228N|IL5RA_ENST00000430514.2_Missense_Mutation_p.D228N|IL5RA_ENST00000418488.2_Missense_Mutation_p.D228N|IL5RA_ENST00000311981.8_Missense_Mutation_p.D228N|IL5RA_ENST00000256452.3_Missense_Mutation_p.D228N|IL5RA_ENST00000383846.1_Missense_Mutation_p.D228N|IL5RA_ENST00000445864.2_Intron NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 228 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) AACAGCTGATCAAAGGGCCTG 0.502000 10 33 0 0 0.000673 0 0 ZNF844 284391 broad.mit.edu 37 19 12186404 12186404 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:12186404C>T ENST00000439326.3 + 4 644 c.469C>T c.(469-471)Caa>Taa p.Q157* ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 CCCCTCCTTTCAAATGCAAGA 0.408000 9 15 0 0 0.004482 0 0 CTNND1 1500 broad.mit.edu 37 11 57577603 57577603 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:57577603C>T ENST00000524630.1 + 15 2953 c.2440C>T c.(2440-2442)Cga>Tga p.R814* CTNND1_ENST00000526772.1_Nonsense_Mutation_p.R491*|CTNND1_ENST00000532463.1_Nonsense_Mutation_p.R713*|CTNND1_ENST00000527467.1_Nonsense_Mutation_p.R497*|CTNND1_ENST00000525902.1_Nonsense_Mutation_p.R497*|CTNND1_ENST00000529986.1_Nonsense_Mutation_p.R713*|CTNND1_ENST00000426142.2_Nonsense_Mutation_p.R713*|CTNND1_ENST00000530094.1_Nonsense_Mutation_p.R713*|CTNND1_ENST00000529526.1_Nonsense_Mutation_p.R760*|CTNND1_ENST00000361391.6_Nonsense_Mutation_p.R814*|CTNND1_ENST00000360682.6_Nonsense_Mutation_p.R820*|CTNND1_ENST00000528232.1_Nonsense_Mutation_p.R719*|CTNND1_ENST00000399050.4_Nonsense_Mutation_p.R820*|CTNND1_ENST00000532787.1_Nonsense_Mutation_p.R713*|CTNND1_ENST00000361796.4_Nonsense_Mutation_p.R814*|CTNND1_ENST00000532649.1_Nonsense_Mutation_p.R760*|CTNND1_ENST00000532844.1_Nonsense_Mutation_p.R766*|CTNND1_ENST00000526357.1_Nonsense_Mutation_p.R760*|CTNND1_ENST00000528621.1_Nonsense_Mutation_p.R760*|CTNND1_ENST00000529873.1_Nonsense_Mutation_p.R760*|CTNND1_ENST00000533667.1_Nonsense_Mutation_p.R491*|CTNND1_ENST00000534579.1_Nonsense_Mutation_p.R760*|CTNND1_ENST00000399039.4_Nonsense_Mutation_p.R820*|CTNND1_ENST00000526938.1_Nonsense_Mutation_p.R820*|CTNND1_ENST00000358694.6_Nonsense_Mutation_p.R814*|CTNND1_ENST00000428599.2_Nonsense_Mutation_p.R814*|CTNND1_ENST00000529919.1_Nonsense_Mutation_p.R820*|CTNND1_ENST00000415361.2_Nonsense_Mutation_p.R719*|CTNND1_ENST00000530748.1_Nonsense_Mutation_p.R766*|CTNND1_ENST00000532245.1_Nonsense_Mutation_p.R713*|CTNND1_ENST00000361332.4_Nonsense_Mutation_p.R814*|CTNND1_ENST00000531014.1_Nonsense_Mutation_p.R491* O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 820 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) AAAAGAAGTTCGAGCAGCAGC 0.398000 12 37 0 0 0.001368 0 0 ZZEF1 23140 broad.mit.edu 37 17 3924426 3924426 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:3924426G>A ENST00000381638.2 - 45 7525 c.7401C>T c.(7399-7401)ttC>ttT p.F2467F NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2467 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AACACACCAAGAAACATATTC 0.542000 36 102 0 0 0.002222 0 0 UFSP2 55325 broad.mit.edu 37 4 186329116 186329116 + Silent SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:186329116A>G ENST00000264689.6 - 9 1211 c.1095T>C c.(1093-1095)ggT>ggC p.G365G NM_018359.3 NP_060829.2 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 365 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) TTGACGTTATACCGATCAATT 0.383000 7 24 0 0 0.003080 0 0 NEFM 4741 broad.mit.edu 37 8 24775443 24775443 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:24775443C>T ENST00000221166.5 + 3 2857 c.2075C>T c.(2074-2076)tCa>tTa p.S692L NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.S316L|NEFM_ENST00000437366.2_Missense_Mutation_p.S653L P07197 NFM_HUMAN neurofilament, medium polypeptide 692 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) gaggcaaagtcaaaagcagaa 0.453000 13 20 0 0 0.001368 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711742 140711742 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140711742G>T ENST00000517417.1 + 1 1491 c.1491G>T c.(1489-1491)caG>caT p.Q497H PCDHGA1_ENST00000378105.3_Missense_Mutation_p.Q497H NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACTATCCAGGGGGCACCCC 0.542000 7 135 0.00307968 0.00492749 0.003080 1 0 IFIH1 64135 broad.mit.edu 37 2 163163336 163163336 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:163163336G>A ENST00000263642.2 - 3 1047 c.652C>T c.(652-654)Cct>Tct p.P218S NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 218 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 TCCACTTGAGGACCATCAACT 0.383000 12 18 0 0 0.001368 0 0 TCAIM 285343 broad.mit.edu 37 3 44408953 44408953 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:44408953C>T ENST00000342649.4 + 5 752 c.325C>T c.(325-327)Cga>Tga p.R109* TCAIM_ENST00000417237.1_Nonsense_Mutation_p.R109* NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial TCTAGGATTTCGAGCAGTCAA 0.303000 21 39 0 0 0.003330 0 0 HDAC5 10014 broad.mit.edu 37 17 42188140 42188140 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:42188140C>T ENST00000225983.6 - 3 377 c.54G>A c.(52-54)ttG>ttA p.L18L HDAC5_ENST00000586802.1_Silent_p.L17L|HDAC5_ENST00000393622.2_Silent_p.L17L|HDAC5_ENST00000336057.5_Silent_p.L17L Q9UQL6 HDAC5_HUMAN histone deacetylase 5 17 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) GCAGGATTTCCAAGGATGGTT 0.572000 7 33 0 0 0.004482 0 0 RPS14 6208 broad.mit.edu 37 5 149826385 149826385 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:149826385G>A ENST00000401695.3 - 3 337 c.291C>T c.(289-291)ctC>ctT p.L97L RPS14_ENST00000407193.1_Silent_p.L97L|RPS14_ENST00000312037.5_Silent_p.L97L P62263 RS14_HUMAN ribosomal protein S14 97 endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity central_nervous_system(1)|lung(1)|skin(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGTGGCCCGGAGTTTGATGT 0.572000 11 73 0 0 0.000978 0 0 STARD8 9754 broad.mit.edu 37 X 67937559 67937559 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:67937559G>A ENST00000252336.6 + 5 935 c.563G>A c.(562-564)gGt>gAt p.G188D STARD8_ENST00000374597.3_Missense_Mutation_p.G188D|STARD8_ENST00000374599.3_Missense_Mutation_p.G268D NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 188 G -> S (in a breast cancer sample; somatic mutation). regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 ACCTCAGCCGGTGGCAGTGGT 0.607000 5 9 0 0 0.001168 0 0 PSMA5 5686 broad.mit.edu 37 1 109968936 109968936 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:109968936G>A ENST00000271308.4 - 1 37 c.17C>T c.(16-18)tCt>tTt p.S6F PSMA5_ENST00000538610.1_5'UTR NM_002790.3 NP_002781.2 P28066 PSA5_HUMAN proteasome (prosome, macropain) subunit, alpha type, 5 6 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2) 5 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235) GTCGTACTCAGACCGGGTAAG 0.662000 63 102 0 0 0.003610 0 0 BRD4 23476 broad.mit.edu 37 19 15367917 15367917 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:15367917G>A ENST00000263377.2 - 8 1630 c.1409C>T c.(1408-1410)tCc>tTc p.S470F BRD4_ENST00000360016.5_Missense_Mutation_p.S470F|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.S470F NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 470 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CACTGCCGGGGAGGACACGGC 0.617000 T C15orf55 lethal midline carcinoma of young people 13 21 0 0 0.001855 0 0 KIAA1958 158405 broad.mit.edu 37 9 115336479 115336479 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:115336479C>T ENST00000337530.6 + 2 415 c.119C>T c.(118-120)tCc>tTc p.S40F KIAA1958_ENST00000374244.3_Missense_Mutation_p.S40F|KIAA1958_ENST00000536272.1_Missense_Mutation_p.S40F NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 40 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 TCTGAAGGTTCCCATGGGAAC 0.517000 11 19 0 0 0.001368 0 0 LIN28A 79727 broad.mit.edu 37 1 26752889 26752889 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:26752889C>T ENST00000326279.6 + 4 684 c.570C>T c.(568-570)taC>taT p.Y190Y LIN28A_ENST00000254231.4_Silent_p.Y190Y NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 190 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 AGCCAACCTACTTTCGAGAGG 0.547000 17 25 0 0 0.001882 0 0 GC 2638 broad.mit.edu 37 4 72635106 72635106 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:72635106C>T ENST00000273951.8 - 2 413 c.70G>A c.(70-72)Gaa>Aaa p.E24K GC_ENST00000504199.1_Missense_Mutation_p.E43K|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.E24K NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 24 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TTATTCTTTTCATAATCCCGG 0.408000 7 11 0 0 0.006214 0 0 LRRN2 10446 broad.mit.edu 37 1 204588311 204588311 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:204588311C>T ENST00000367175.1 - 1 3022 c.810G>A c.(808-810)aaG>aaA p.K270K LRRN2_ENST00000367177.3_Silent_p.K270K|LRRN2_ENST00000367176.3_Silent_p.K270K O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 270 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGAGCGGGTTCTTGTTGAGGT 0.602000 51 33 0 0 0.003610 0 0 CLCN2 1181 broad.mit.edu 37 3 184075882 184075882 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:184075882G>A ENST00000265593.4 - 5 654 c.481_splice c.e5-1 p.G161_splice CLCN2_ENST00000457512.1_Splice_Site_p.G161_splice|CLCN2_ENST00000344937.7_Splice_Site_p.G161_splice|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Splice_Site_p.G117_splice|CLCN2_ENST00000423355.2_5'UTR NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 161 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GGATGCCAGAGCCTGGAGAGG 0.552000 28 66 0 0 0.001512 0 0 TOB1 10140 broad.mit.edu 37 17 48940550 48940550 + Missense_Mutation SNP G G A rs150689356 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:48940550G>A ENST00000499247.2 - 2 1262 c.829C>T c.(829-831)Cct>Tct p.P277S TOB1_ENST00000268957.3_Missense_Mutation_p.P277S NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 277 negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TGCATATTAGGAAAAATAAAT 0.507000 24 32 0 0 0.002780 0 0 CCDC88B 283234 broad.mit.edu 37 11 64121212 64121212 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:64121212G>A ENST00000356786.5 + 23 3903 c.3859G>A c.(3859-3861)Gag>Aag p.E1287K CCDC88B_ENST00000301897.4_Silent_p.A5A|CCDC88B_ENST00000359902.2_Missense_Mutation_p.E439K|CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1287 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCTGCGCCGCGAGAAGCAGAA 0.642000 42 111 0 0 0.002852 0 0 OR10T2 128360 broad.mit.edu 37 1 158368976 158368976 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158368976G>A ENST00000334438.1 - 1 280 c.281C>T c.(280-282)tCc>tTc p.S94F NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) GGCCATGAAGGAGATGGTCTT 0.478000 13 35 0 0 0.001855 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812225 140812225 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140812225G>A ENST00000252085.3 + 1 2041 c.1899G>A c.(1897-1899)ctG>ctA p.L633L PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCCCTGCTGGACAGAGACG 0.692000 23 89 0 0 0.002299 0 0 HOXB3 3213 broad.mit.edu 37 17 46628188 46628188 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:46628188G>A ENST00000470495.1 - 2 2251 c.804C>T c.(802-804)ccC>ccT p.P268P HOXB3_ENST00000490677.1_Silent_p.P134P|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Silent_p.P195P|HOXB3_ENST00000311626.4_Silent_p.P268P|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.P268P|HOXB3_ENST00000476342.1_Silent_p.P268P|HOXB3_ENST00000472863.1_Silent_p.P195P|HOXB3_ENST00000460160.1_Silent_p.P136P|HOXB3_ENST00000485909.2_Silent_p.P136P|HOXB-AS3_ENST00000465846.2_RNA P14651 HXB3_HUMAN homeobox B3 268 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 TGGACTGCATGGGCTGCGGGG 0.647000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 70 0 0 0.003610 0 0 BRIP1 83990 broad.mit.edu 37 17 59760695 59760695 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:59760695G>A ENST00000259008.2 - 20 3979 c.3712C>T c.(3712-3714)Cct>Tct p.P1238S NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1238 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TTTTTGGAAGGAGATGGTTTA 0.289000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 39 54 0 0 0.007835 0 0 PCNT 5116 broad.mit.edu 37 21 47754535 47754535 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:47754535C>T ENST00000359568.5 + 3 599 c.492C>T c.(490-492)caC>caT p.H164H PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 164 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TCAGTGACCACCCACCAGAAC 0.552000 10 53 0 0 0.006214 0 0 NOX4 50507 broad.mit.edu 37 11 89184968 89184968 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:89184968G>A ENST00000535633.1 - 3 487 c.177C>T c.(175-177)ctC>ctT p.L59L NOX4_ENST00000527956.1_Silent_p.L59L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000525196.1_Silent_p.L83L|NOX4_ENST00000542487.1_Silent_p.L59L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000424319.1_Silent_p.L59L|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000528341.1_Silent_p.L58L|NOX4_ENST00000534731.1_Silent_p.L83L|NOX4_ENST00000343727.5_Silent_p.L59L|NOX4_ENST00000413594.2_Silent_p.L104L|NOX4_ENST00000532825.1_Silent_p.L59L|NOX4_ENST00000263317.4_Silent_p.L83L NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 83 Ferric oxidoreductase. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) GTGATCCTCGGAGGTAAGCCA 0.413000 37 27 0 0 0.002522 0 0 COL25A1 84570 broad.mit.edu 37 4 109745367 109745367 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:109745367C>T ENST00000399132.1 - 35 2338 c.1808G>A c.(1807-1809)cGg>cAg p.R603Q COL25A1_ENST00000399127.1_Missense_Mutation_p.R606Q|COL25A1_ENST00000399126.1_Missense_Mutation_p.R603Q NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 603 Collagen-like 7. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CTTCTCACCCCGTGGACCAGG 0.413000 17 7 0 0 0.001216 0 0 PAAF1 80227 broad.mit.edu 37 11 73627595 73627595 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:73627595C>T ENST00000544909.1 + 7 1085 c.828C>T c.(826-828)ttC>ttT p.F276F PAAF1_ENST00000535604.1_Silent_p.F160F|PAAF1_ENST00000376384.5_Silent_p.F258F|PAAF1_ENST00000310571.3_Silent_p.F275F|PAAF1_ENST00000536003.1_Silent_p.F258F|PAAF1_ENST00000544552.1_Silent_p.F258F|PAAF1_ENST00000541951.1_Silent_p.F160F Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 275 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) CCCAGGTGTTCCTCTTTATTG 0.383000 13 51 0 0 0.002450 0 0 USP6NL 9712 broad.mit.edu 37 10 11505009 11505009 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:11505009C>T ENST00000379237.1 - 15 2312 c.1918G>A c.(1918-1920)Gga>Aga p.G640R USP6NL_ENST00000277575.5_Missense_Mutation_p.G657R NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 640 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 GGAGAGTTTCCGTGGTAAACG 0.552000 5 1 0 0 0.000602 0 0 TMEM174 134288 broad.mit.edu 37 5 72469221 72469221 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:72469221G>A ENST00000296776.5 + 1 200 c.151G>A c.(151-153)Ggg>Agg p.G51R TMEM174_ENST00000511737.1_3'UTR NM_153217.2 NP_694949.1 Q8WUU8 TM174_HUMAN transmembrane protein 174 51 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) GGGACTGGTGGGGATCACATT 0.572000 95 35 0 0 0.003610 0 0 TEX19 400629 broad.mit.edu 37 17 80320274 80320274 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:80320274G>A ENST00000333437.4 + 2 558 c.248G>A c.(247-249)tGg>tAg p.W83* NM_207459.3 NP_997342.1 Q8NA77 TEX19_HUMAN testis expressed 19 83 nucleus breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 GAGCTGAGCTGGGGGCAGAGC 0.642000 11 44 0 0 0.000673 0 0 MYO9A 4649 broad.mit.edu 37 15 72338351 72338351 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:72338351A>C ENST00000356056.5 - 2 1026 c.554T>G c.(553-555)gTt>gGt p.V185G MYO9A_ENST00000424560.1_Missense_Mutation_p.V185G|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000444904.1_Missense_Mutation_p.V185G|MYO9A_ENST00000564571.1_Missense_Mutation_p.V185G|MYO9A_ENST00000563542.1_5'UTR NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 185 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGGGTTAATAACTATTAGAAT 0.333000 14 52 0 0 0.002450 0 0 FLG 2312 broad.mit.edu 37 1 152287816 152287816 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:152287816C>T ENST00000368799.1 - 2 152 c.117G>A c.(115-117)aaG>aaA p.K39K FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 39 EF-hand 1. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.K39N(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGAAATTCCTTTTCCAGAA 0.328000 Ichthyosis 38 118 0 0 0.003610 0 0 PDXK 8566 broad.mit.edu 37 21 45152403 45152403 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45152403C>T ENST00000327574.4 + 2 495 c.145C>T c.(145-147)Ctc>Ttc p.L49F PDXK_ENST00000291565.4_Intron|PDXK_ENST00000468090.1_Intron|PDXK_ENST00000476313.1_Intron|PDXK_ENST00000398081.1_Intron O00764 PDXK_HUMAN pyridoxal (pyridoxine, vitamin B6) kinase 109 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) CGACTTCATTCTCGGATACGT 0.458000 45 132 0 0 0.003610 0 0 CACNA1E 777 broad.mit.edu 37 1 181745324 181745324 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:181745324G>A ENST00000526775.1 + 37 5335 c.5170G>A c.(5170-5172)Gag>Aag p.E1724K CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1724K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1675K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1694K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1350K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1743K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1743K NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1743 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCACTTGGACGAGTTTGTCCG 0.607000 29 136 0 0 0.007291 0 0 INVS 27130 broad.mit.edu 37 9 103014671 103014671 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:103014671C>T ENST00000262457.2 + 9 1370 c.1185C>T c.(1183-1185)ttC>ttT p.F395F INVS_ENST00000262456.2_Silent_p.F395F|INVS_ENST00000541287.1_Silent_p.F299F NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 395 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) CTCCACTTTTCCGAGCCTGTG 0.413000 23 23 0 0 0.001882 0 0 KLHL9 55958 broad.mit.edu 37 9 21334327 21334327 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:21334327G>A ENST00000359039.4 - 1 1052 c.532C>T c.(532-534)Ctg>Ttg p.L178L KLHL9_ENST00000537938.1_Silent_p.L110L Q9P2J3 KLHL9_HUMAN kelch-like family member 9 178 BACK. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) AAGTTCTTCAGGATGAAATTA 0.363000 8 4 0 0 0.003080 0 0 BRCA1 672 broad.mit.edu 37 17 41223166 41223166 + Missense_Mutation SNP G G A rs80357002 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:41223166G>A ENST00000309486.4 - 14 4904 c.3877C>T c.(3877-3879)Cgt>Tgt p.R1293C BRCA1_ENST00000591534.1_Missense_Mutation_p.R80C|BRCA1_ENST00000352993.3_Missense_Mutation_p.R447C|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R485C|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.R406C|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1610C|BRCA1_ENST00000357654.3_Missense_Mutation_p.R1589C|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.R485C|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1542C NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1589 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TTGCCAACACGAGCTGACTCT 0.483000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 49 152 0 0 0.003610 0 0 NOD2 64127 broad.mit.edu 37 16 50753905 50753905 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:50753905C>T ENST00000300589.2 + 7 2805 c.2700C>T c.(2698-2700)tcC>tcT p.S900S NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 900 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GCAACACCTCCTTGCAGTTCC 0.587000 17 18 0 0 0.007413 0 0 NME8 51314 broad.mit.edu 37 7 37907312 37907312 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:37907312C>T ENST00000199447.4 + 11 1002 c.630C>T c.(628-630)ttC>ttT p.F210F NME8_ENST00000440017.1_Silent_p.F210F|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 210 NDK 1. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity AGTGTGACTTCGAAGAGTTTG 0.388000 18 57 0 0 0.001523 0 0 ZNF25 219749 broad.mit.edu 37 10 38241797 38241797 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:38241797G>A ENST00000302609.7 - 6 841 c.629C>T c.(628-630)tCc>tTc p.S210F ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) CTGGTAGAAGGATTTTTCACA 0.388000 26 60 0 0 0.006320 0 0 KCNH7 90134 broad.mit.edu 37 2 163241343 163241343 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:163241343G>A ENST00000332142.5 - 13 2916 c.2817C>T c.(2815-2817)tcC>tcT p.S939S NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 939 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CATCAATGGAGGAGATGAAAG 0.418000 39 59 0 0 0.002852 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54604065 54604065 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:54604065C>T ENST00000474759.1 + 8 870 c.822C>T c.(820-822)atC>atT p.I274I CACNA2D3_ENST00000288197.5_Silent_p.I274I|CACNA2D3_ENST00000415676.2_Silent_p.I274I|CACNA2D3_ENST00000490478.1_Silent_p.I180I NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 274 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GTCTGACTATCGCGAAGCAAA 0.463000 54 46 0 0 0.003610 0 0 CENPF 1063 broad.mit.edu 37 1 214817969 214817969 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:214817969C>T ENST00000366955.3 + 13 5224 c.5056C>T c.(5056-5058)Cca>Tca p.P1686S NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1782 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AGAAAGAACACCAAAGCATGA 0.383000 14 61 0 0 0.004007 0 0 LMX1A 4009 broad.mit.edu 37 1 165218703 165218703 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:165218703C>T ENST00000342310.3 - 4 820 c.438G>A c.(436-438)ggG>ggA p.G146G LMX1A_ENST00000294816.2_Silent_p.G146G|LMX1A_ENST00000367893.4_Silent_p.G146G NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 146 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) TCTCATAGTCCCCTTTGCAGA 0.612000 48 32 0 0 0.003610 0 0 TRPV6 55503 broad.mit.edu 37 7 142572893 142572893 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:142572893C>T ENST00000359396.3 - 9 1392 c.1147G>A c.(1147-1149)Gat>Aat p.D383N NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 383 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) AGCCGGATATCGTCCTTAGGG 0.572000 33 110 0 0 0.004878 0 0 INPP5F 22876 broad.mit.edu 37 10 121551380 121551380 + Splice_Site SNP G G C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:121551380G>C ENST00000361976.2 + 5 610 c.e5-1 INPP5F_ENST00000369081.1_Splice_Site|INPP5F_ENST00000369083.3_Splice_Site NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) ATTTCTTATAGGTTAAGGAAA 0.343000 14 22 0 0 0.001855 0 0 KCNQ4 9132 broad.mit.edu 37 1 41300771 41300771 + Splice_Site SNP G G C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:41300771G>C ENST00000347132.5 + 12 1827 c.e12+1 KCNQ4_ENST00000509682.2_Splice_Site|KCNQ4_ENST00000506017.1_Splice_Site NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TGCAAACTCGGTGGGTGCACC 0.637000 15 32 0 0 0.003163 0 0 ZNF75A 7627 broad.mit.edu 37 16 3367324 3367324 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:3367324C>T ENST00000574298.1 + 6 819 c.346C>T c.(346-348)Cat>Tat p.H116Y ZNF75A_ENST00000498240.2_3'UTR NM_153028.2 NP_694573.1 Q96N20 ZN75A_HUMAN zinc finger protein 75a 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(7)|prostate(1) 12 CAAAGAAAATCATTTTGATAT 0.398000 17 29 0 0 0.004007 0 0 CYP2B6 1555 broad.mit.edu 37 19 41518385 41518385 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:41518385C>T ENST00000324071.4 + 7 1154 c.1147C>T c.(1147-1149)Ccc>Tcc p.P383S CYP2B6_ENST00000330446.5_Missense_Mutation_p.P183S|CYP2B6_ENST00000593831.1_Missense_Mutation_p.P147S NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 383 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GTACATCATCCCCAAGGTAAG 0.512000 14 41 0 0 0.002450 0 0 KRT81 3887 broad.mit.edu 37 12 52681871 52681871 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:52681871C>T ENST00000327741.5 - 5 865 c.797G>A c.(796-798)aGc>aAc p.S266N KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron NM_002281.3 NP_002272.2 Q14533 KRT81_HUMAN keratin 81 266 Linker 12.|Rod. keratin filament protein binding|structural molecule activity breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1) 16 BRCA - Breast invasive adenocarcinoma(357;0.189) CAGGTCCCGGCTGTTGTCCAG 0.562000 21 104 0 0 0.001216 0 0 KLK1 3816 broad.mit.edu 37 19 51322477 51322477 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:51322477G>A ENST00000448701.2 - 6 1780 c.456C>T c.(454-456)atC>atT p.I152I KLK1_ENST00000301420.2_Silent_p.I254I P06870 KLK1_HUMAN kallikrein 1 254 Peptidase S1. proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGTGTCCTCGATCCACTTCA 0.542000 46 37 0 0 0.003610 0 0 SLC25A23 79085 broad.mit.edu 37 19 6454035 6454035 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:6454035G>T ENST00000301454.4 - 7 966 c.860C>A c.(859-861)tCc>tAc p.S287Y SLC25A23_ENST00000414491.2_Missense_Mutation_p.S104Y|SLC25A23_ENST00000334510.5_Missense_Mutation_p.S287Y NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 287 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 ACCAGCCAGGGAGCCAGCCAC 0.642000 9 42 5.16669e-11 8.3814e-11 0.000978 1 0 PPP2R5B 5526 broad.mit.edu 37 11 64699222 64699222 + Splice_Site SNP T T G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:64699222T>G ENST00000164133.2 + 11 1620 c.996_splice c.e11-1 p.V333_splice NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 333 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 CCCACCCAGGTGATGTTTCTG 0.567000 16 36 0 0 0.006122 0 0 SELT 51714 broad.mit.edu 37 3 150340893 150340893 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:150340893G>A ENST00000471696.1 + 3 387 c.312G>A c.(310-312)aaG>aaA p.K104K SELT_ENST00000477889.1_Silent_p.K46K|SELT_ENST00000485923.1_Silent_p.K46K|SELT_ENST00000480740.1_Silent_p.K46K NM_016275.3 NP_057359.2 P62341 SELT_HUMAN 104 cell redox homeostasis|selenocysteine incorporation selenium binding LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TTGTTGGCAAGGATCCTTTTG 0.373000 15 27 0 0 0.003163 0 0 GPR98 84059 broad.mit.edu 37 5 90024648 90024648 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:90024648T>C ENST00000405460.2 + 49 10420 c.10324T>C c.(10324-10326)Ttt>Ctt p.F3442L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3442 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGGCAGTGGGTTTATTAACTT 0.448000 52 8 0 0 0.003610 0 0 SACS 26278 broad.mit.edu 37 13 23915461 23915461 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:23915461G>A ENST00000382298.3 - 10 3142 c.2554C>T c.(2554-2556)Ctt>Ttt p.L852F SACS_ENST00000402364.1_Missense_Mutation_p.L102F|SACS_ENST00000382292.3_Missense_Mutation_p.L852F NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 852 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AATTTTTTAAGGACAAACCCT 0.348000 12 36 0 0 0.001368 0 0 SLC6A20 54716 broad.mit.edu 37 3 45812825 45812825 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:45812825C>T ENST00000358525.4 - 6 934 c.819G>A c.(817-819)caG>caA p.Q273Q SLC6A20_ENST00000353278.4_Silent_p.Q236Q|SLC6A20_ENST00000456124.2_Silent_p.Q273Q NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 273 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) TGGCGTGCTTCTGGCAGTTGT 0.527000 19 57 0 0 0.007413 0 0 CSHL1 1444 broad.mit.edu 37 17 61987391 61987391 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:61987391G>A ENST00000450719.3 - 3 557 c.320C>T c.(319-321)cCc>cTc p.P107L CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.P118L Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 ATTCACGAGGGGAAATGAAGA 0.547000 28 93 0 0 0.001786 0 0 CACNB4 785 broad.mit.edu 37 2 152695818 152695818 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:152695818C>T ENST00000360283.6 - 13 1536 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K CACNB4_ENST00000397327.2_Missense_Mutation_p.E413K|CACNB4_ENST00000427385.1_Missense_Mutation_p.E442K|CACNB4_ENST00000201943.5_Missense_Mutation_p.E398K|CACNB4_ENST00000539935.1_Missense_Mutation_p.E460K|CACNB4_ENST00000534999.1_Missense_Mutation_p.E426K O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 460 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) TGATAATTTTCATCAGAGGTC 0.433000 24 81 0 0 0.003330 0 0 FAM73B 84895 broad.mit.edu 37 9 131830564 131830564 + Missense_Mutation SNP C C T rs34832472 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:131830564C>T ENST00000358369.4 + 13 1583 c.1357C>T c.(1357-1359)Ctc>Ttc p.L453F FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR NM_032809.2 NP_116198.2 Q7L4E1 FA73B_HUMAN family with sequence similarity 73, member B 453 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 GGCCTCGGTGCTCGCCGTCCT 0.612000 14 41 0 0 0.001855 0 0 HINT2 84681 broad.mit.edu 37 9 35813502 35813502 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:35813502G>A ENST00000259667.5 - 3 308 c.267C>T c.(265-267)ttC>ttT p.F89F HINT2_ENST00000474908.1_5'UTR NM_032593.2 NP_115982.1 Q9BX68 HINT2_HUMAN histidine triad nucleotide binding protein 2 89 HIT. apoptosis|steroid biosynthetic process mitochondrion hydrolase activity NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) GAATGACCAGGAAGTGCACAG 0.567000 OREG0019179 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 15 0 0 0.001368 0 0 RNMT 8731 broad.mit.edu 37 18 13740181 13740181 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:13740181C>T ENST00000383314.2 + 6 935 c.695C>T c.(694-696)tCt>tTt p.S232F RNMT_ENST00000589866.1_Missense_Mutation_p.S232F|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000543302.2_Missense_Mutation_p.S232F|RNMT_ENST00000262173.3_Missense_Mutation_p.S232F|RNMT_ENST00000592764.1_Missense_Mutation_p.S232F O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 232 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 GCCGATGTTTCTGTCAAACAG 0.393000 7 8 0 0 0.004482 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37488714 37488714 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:37488714G>A ENST00000374660.1 + 36 3064 c.2965G>A c.(2965-2967)Gag>Aag p.E989K ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E870K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E870K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1023 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TTGGGATTCTGAGGTACTATG 0.299000 6 13 0 0 0.003080 0 0 DOPEY2 9980 broad.mit.edu 37 21 37602821 37602821 + Missense_Mutation SNP C C T rs146572771 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:37602821C>T ENST00000399151.3 + 14 1824 c.1739C>T c.(1738-1740)tCg>tTg p.S580L NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 580 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GAAGATGCTTCGTTTCCCCCT 0.473000 17 63 0 0 0.004990 0 0 THPO 7066 broad.mit.edu 37 3 184091368 184091368 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:184091368C>T ENST00000204615.7 - 5 445 c.231G>A c.(229-231)gaG>gaA p.E77E THPO_ENST00000421442.2_Silent_p.E77E|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Silent_p.E77E NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 77 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTTGGTCTCCTCCTGAGAAA 0.572000 3 15 0 0 0.004672 0 0 DCHS2 54798 broad.mit.edu 37 4 155256132 155256132 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:155256132G>A ENST00000357232.3 - 8 1103 c.1104C>T c.(1102-1104)ttC>ttT p.F368F DCHS2_ENST00000339452.1_Silent_p.F867F|DCHS2_ENST00000507542.1_5'UTR NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 368 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F368L(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GAGTTGTCTGGAAAATGTGTA 0.443000 16 49 0 0 0.004007 0 0 SLC26A9 115019 broad.mit.edu 37 1 205897137 205897137 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:205897137C>T ENST00000367135.3 - 9 1107 c.994G>A c.(994-996)Gac>Aac p.D332N SLC26A9_ENST00000367134.2_Missense_Mutation_p.D332N|SLC26A9_ENST00000340781.4_Missense_Mutation_p.D332N NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 332 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CCTATCATGTCCTTCCACTGT 0.617000 35 17 0 0 0.004878 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142561813 142561813 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:142561813G>A ENST00000295992.3 - 4 832 c.526C>T c.(526-528)Cct>Tct p.P176S PCOLCE2_ENST00000485766.1_Missense_Mutation_p.P176S NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 176 CUB 2. extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 ACTCCTGCAGGGTAATCCCGG 0.483000 22 43 0 0 0.002299 0 0 TULP4 56995 broad.mit.edu 37 6 158924013 158924013 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:158924013C>T ENST00000367097.3 + 13 4675 c.3318C>T c.(3316-3318)caC>caT p.H1106H TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1106 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCTTGAGGCACCCTCCCCTGC 0.632000 24 15 0 0 0.005443 0 0 RAB36 9609 broad.mit.edu 37 22 23503099 23503099 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:23503099C>T ENST00000263116.2 + 10 891 c.851C>T c.(850-852)gCc>gTc p.A284V RAB36_ENST00000341989.4_Missense_Mutation_p.A262V NM_004914.2 NP_004905.2 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 284 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) AGCCGCGTAGCCGCCCTGGCA 0.597000 58 24 0 0 0.003610 0 0 ERCC4 2072 broad.mit.edu 37 16 14042072 14042072 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:14042072C>T ENST00000311895.7 + 11 2628 c.2619C>T c.(2617-2619)atC>atT p.I873I NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 873 Interaction with EME1 and ERCC1. I -> V (in dbSNP:rs2020957). double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 TTAAGAACATCGCAGAATTAG 0.458000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 21 32 0 0 0.003954 0 0 PCDH15 65217 broad.mit.edu 37 10 55566661 55566661 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:55566661G>A ENST00000373965.2 - 36 5127 c.4733C>T c.(4732-4734)cCc>cTc p.P1578L PCDH15_ENST00000414778.1_Missense_Mutation_p.P1575L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTTCTTAAAGGGCCCTCCCAG 0.453000 HNSCC(58;0.16) 48 102 0 0 0.003610 0 0 SCN3A 6328 broad.mit.edu 37 2 166019276 166019276 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:166019276G>A ENST00000360093.3 - 8 1248 c.757C>T c.(757-759)Ctg>Ttg p.L253L SCN3A_ENST00000409101.3_Silent_p.L253L|SCN3A_ENST00000283254.7_Silent_p.L253L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 253 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AACACAGTCAGGATCATCACA 0.493000 25 45 0 0 0.006320 0 0 PRRC2A 7916 broad.mit.edu 37 6 31598926 31598926 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:31598926C>T ENST00000376033.2 + 16 2710 c.2476C>T c.(2476-2478)Cct>Tct p.P826S PRRC2A_ENST00000376007.4_Missense_Mutation_p.P826S NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 826 4 X 57 AA type A repeats.|Poly-Pro. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GAGCGAGACTCCTCCAGTACC 0.502000 33 173 0 0 0.004878 0 0 TLL1 7092 broad.mit.edu 37 4 166924680 166924680 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:166924680G>A ENST00000061240.2 + 6 1417 c.770G>A c.(769-771)cGa>cAa p.R257Q TLL1_ENST00000507499.1_Missense_Mutation_p.R257Q|TLL1_ENST00000513213.1_Missense_Mutation_p.R257Q NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 257 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AGACCAGATCGAGATAACCAC 0.408000 14 35 0 0 0.003163 0 0 TMEM156 80008 broad.mit.edu 37 4 38995437 38995437 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:38995437C>T ENST00000381938.3 - 3 647 c.540G>A c.(538-540)tcG>tcA p.S180S NM_024943.1 NP_079219.1 Q8N614 TM156_HUMAN transmembrane protein 156 180 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 TGTAGTTTATCGATTTCTCCT 0.368000 29 45 0 0 0.007291 0 0 NPY5R 4889 broad.mit.edu 37 4 164271932 164271932 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:164271932C>T ENST00000515560.1 + 4 2029 c.507C>T c.(505-507)gcC>gcT p.A169A NPY5R_ENST00000338566.3_Silent_p.A169A|NPY5R_ENST00000506953.1_Silent_p.A169A Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 169 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TAGGTTTTGCCATCTGTTCTC 0.408000 46 148 0 0 0.003610 0 0 ZIM2 23619 broad.mit.edu 37 19 57286357 57286357 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:57286357A>C ENST00000391708.3 - 12 1825 c.1283T>G c.(1282-1284)cTt>cGt p.L428R ZIM2_ENST00000601070.1_Missense_Mutation_p.L428R|ZIM2_ENST00000599935.1_Missense_Mutation_p.L428R|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.L428R|ZIM2_ENST00000221722.5_Missense_Mutation_p.L428R|AC006115.3_ENST00000595954.1_RNA NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) GAGATGTTGAAGAAGATGCAC 0.453000 18 42 0 0 0.006122 0 0 UGT1A9 54600 broad.mit.edu 37 2 234581260 234581260 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:234581260C>T ENST00000354728.4 + 1 762 c.680C>T c.(679-681)gCc>gTc p.A227V UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) TTCAAAAATGCCCTAGAAATA 0.428000 79 129 0 0 0.003610 0 0 LNX2 222484 broad.mit.edu 37 13 28155802 28155802 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:28155802C>T ENST00000316334.3 - 2 168 c.39G>A c.(37-39)caG>caA p.Q13Q NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 13 zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) AGGAGGAGGTCTGTTCCACAG 0.423000 20 17 0 0 0.002780 0 0 HTR6 3362 broad.mit.edu 37 1 20005187 20005187 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:20005187G>A ENST00000289753.1 + 2 1309 c.842G>A c.(841-843)tGg>tAg p.W281* NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 281 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) TTTGTGACCTGGTTGCCCTTC 0.622000 10 9 0 0 0.000978 0 0 MUC16 94025 broad.mit.edu 37 19 9064631 9064631 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9064631G>A ENST00000397910.4 - 3 23018 c.22815C>T c.(22813-22815)ccC>ccT p.P7605P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7607 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P7605P(2)|p.P3238P(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGAAATCCTGGGGATGGTTC 0.483000 16 39 0 0 0.004007 0 0 ABI3 51225 broad.mit.edu 37 17 47295266 47295266 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:47295266C>T ENST00000225941.1 + 3 949 c.451C>T c.(451-453)Cat>Tat p.H151Y ABI3_ENST00000419580.2_Missense_Mutation_p.H145Y NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 151 cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CGACATTGGCCATGGGATCAA 0.617000 HNSCC(55;0.14) 40 52 0 0 0.003610 0 0 MEFV 4210 broad.mit.edu 37 16 3293550 3293550 + Missense_Mutation SNP G G A rs104895107 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:3293550G>A ENST00000219596.1 - 10 1976 c.1937C>T c.(1936-1938)cCg>cTg p.P646L MEFV_ENST00000536379.1_Missense_Mutation_p.P435L|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.P466L NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 646 B30.2/SPRY. P -> L (in arFMF). inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GAGGAAACTCGGAGAGCCCAG 0.522000 41 114 0 0 0.007835 0 0 CYP4F8 11283 broad.mit.edu 37 19 15726483 15726483 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:15726483G>A ENST00000441682.2 + 0 120 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 GCATCCCCGTGGCTGCTCCTG 0.682000 16 18 0 0 0.003163 0 0 TSPYL6 388951 broad.mit.edu 37 2 54483008 54483008 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:54483008G>A ENST00000317802.7 - 1 401 c.281C>T c.(280-282)cCc>cTc p.P94L ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 94 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 GCCCTCCGCGGGTGGTGGAGT 0.617000 10 33 0 0 0.006214 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055474 9055474 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:9055474G>A ENST00000383836.3 - 16 2293 c.1866C>T c.(1864-1866)acC>acT p.T622T SRGAP3_ENST00000360413.3_Silent_p.T598T NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 622 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CGCGGGGAAGGGTGACGAGGA 0.552000 T RAF1 pilocytic astrocytoma 37 35 0 0 0.001951 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290737 141290737 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:141290737G>A ENST00000247452.3 - 3 1384 c.1037C>T c.(1036-1038)gCc>gTc p.A346V NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 346 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) ATCAATTGTGGCCTGGACTCT 0.453000 HNSCC(46;0.14) 37 52 0 0 0.002222 0 0 GLT1D1 144423 broad.mit.edu 37 12 129429874 129429874 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:129429874G>A ENST00000442111.2 + 9 707 c.619G>A c.(619-621)Gat>Aat p.D207N GLT1D1_ENST00000542193.1_Missense_Mutation_p.D124N|GLT1D1_ENST00000281703.6_Missense_Mutation_p.D127N|GLT1D1_ENST00000537468.1_Missense_Mutation_p.D212N Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 207 biosynthetic process extracellular region transferase activity, transferring glycosyl groups p.D127H(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) TTTTCAGGTCGATCCAGTGTT 0.572000 36 9 0 0 0.006230 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94645387 94645387 + Missense_Mutation SNP T T G rs138781972 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:94645387T>G ENST00000260526.6 - 20 2556 c.2374A>C c.(2374-2376)Atg>Ctg p.M792L ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 792 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity p.M792V(1) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TCTATACACATATTTGGCCAT 0.308000 33 37 0 0 0.003271 0 0 TRPC4 7223 broad.mit.edu 37 13 38211653 38211653 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:38211653G>A ENST00000379705.3 - 11 3178 c.2321C>T c.(2320-2322)tCg>tTg p.S774L TRPC4_ENST00000338947.5_Missense_Mutation_p.S601L|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.S774L|TRPC4_ENST00000379679.1_Missense_Mutation_p.S601L|TRPC4_ENST00000379673.2_Missense_Mutation_p.S709L|TRPC4_ENST00000379681.3_Missense_Mutation_p.S779L|TRPC4_ENST00000426868.2_3'UTR Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 774 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.S779L(1)|p.S774L(1) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TGAGTCTGCCGAATTTGAAGA 0.408000 16 32 0 0 0.007413 0 0 BZRAP1 9256 broad.mit.edu 37 17 56388554 56388554 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:56388554G>A ENST00000355701.3 - 19 3972 c.3102C>T c.(3100-3102)ccC>ccT p.P1034P BZRAP1_ENST00000343736.4_Silent_p.P1034P|BZRAP1_ENST00000268893.6_Silent_p.P974P NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1034 Fibronectin type-III 3. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGCCTGCCGTGGGTGAGGCCA 0.652000 6 11 0 0 0.000673 0 0 TTC24 164118 broad.mit.edu 37 1 156554673 156554673 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:156554673C>T ENST00000368236.3 + 7 1292 c.1256C>T c.(1255-1257)tCg>tTg p.S419L TTC24_ENST00000368237.3_Missense_Mutation_p.S419L|TTC24_ENST00000495690.1_3'UTR NM_001105669.2 NP_001099139.2 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 419 binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1) 20 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCCAGACTTCGGCTCCGGGA 0.582000 15 1 0 0 0.004007 0 0 CHAT 1103 broad.mit.edu 37 10 50854610 50854610 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:50854610G>A ENST00000395562.2 + 9 1394 c.925G>A c.(925-927)Gac>Aac p.D309N CHAT_ENST00000351556.3_Missense_Mutation_p.D273N|CHAT_ENST00000455728.2_Missense_Mutation_p.D273N|CHAT_ENST00000339797.1_Missense_Mutation_p.D273N|CHAT_ENST00000395559.2_Missense_Mutation_p.D273N|CHAT_ENST00000337653.2_Missense_Mutation_p.D391N NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 391 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TGTATGCCTGGACGCGCCAGG 0.642000 37 39 0 0 0.002522 0 0 TBX20 57057 broad.mit.edu 37 7 35288374 35288374 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:35288374G>A ENST00000408931.3 - 3 986 c.460C>T c.(460-462)Cct>Tct p.P154S NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 154 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 TTGTCCACAGGGACGATGTCC 0.602000 15 93 0 0 0.004007 0 0 C17orf70 80233 broad.mit.edu 37 17 79514790 79514790 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:79514790G>A ENST00000425898.2 - 1 734 c.265C>T c.(265-267)Cgg>Tgg p.R89W C17orf70_ENST00000327787.8_Intron|C17orf70_ENST00000537152.1_Intron Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 0 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GGTAGGCACCGAGCCTGGCTC 0.652000 8 6 0 0 0.004482 0 0 ESPL1 9700 broad.mit.edu 37 12 53685836 53685836 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:53685836C>T ENST00000257934.4 + 27 5851 c.5760C>T c.(5758-5760)tcC>tcT p.S1920S ESPL1_ENST00000552462.1_Silent_p.S1920S NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1920 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GGCTGCCCTCCTTCCGCTTCC 0.577000 20 99 0 0 0.002780 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965835 35965835 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:35965835G>A ENST00000274278.3 - 4 853 c.496C>T c.(496-498)Ctt>Ttt p.L166F UGT3A1_ENST00000507113.1_Missense_Mutation_p.L132F|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.L166F|UGT3A1_ENST00000333811.4_Missense_Mutation_p.L112F NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 166 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTGGTGGGAAGAATGGCCACA 0.433000 9 42 0 0 0.004482 0 0 ENTPD1 953 broad.mit.edu 37 10 97605216 97605216 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:97605216C>T ENST00000371203.5 + 5 849 c.262C>T c.(262-264)Caa>Taa p.Q88* ENTPD1_ENST00000371205.4_Nonsense_Mutation_p.Q226*|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Nonsense_Mutation_p.Q233*|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Nonsense_Mutation_p.Q88*|ENTPD1_ENST00000371207.3_Nonsense_Mutation_p.Q238*|ENTPD1_ENST00000543964.1_Nonsense_Mutation_p.Q118* NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 226 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) TTTTGTACCCCAAAACCAGAC 0.458000 71 61 0 0 0.003610 0 0 PRDM15 63977 broad.mit.edu 37 21 43240524 43240524 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:43240524G>A ENST00000422911.1 - 18 2339 c.2238C>T c.(2236-2238)atC>atT p.I746I PRDM15_ENST00000269844.3_Silent_p.I1055I|PRDM15_ENST00000447207.2_Silent_p.I689I|PRDM15_ENST00000538201.1_Silent_p.I709I|PRDM15_ENST00000398548.1_Silent_p.I726I P57071 PRD15_HUMAN PR domain containing 15 1055 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CGCAGGGGTGGATGTACCTGA 0.607000 7 17 0 0 0.003080 0 0 TRAV8-2 28684 broad.mit.edu 37 14 22315291 22315291 + RNA SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22315291A>G ENST00000390434.3 + 0 454 CACCCTGGTTAAAGGCATCAA 0.493000 OREG0022570 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 76 114 0 0 0.003610 0 0 NDNF 79625 broad.mit.edu 37 4 121966872 121966872 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:121966872G>A ENST00000379692.4 - 2 647 c.121C>T c.(121-123)Cat>Tat p.H41Y NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 41 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 GACGAATCATGAAAAAATGCC 0.433000 16 34 0 0 0.004990 0 0 NCAPG2 54892 broad.mit.edu 37 7 158456965 158456965 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:158456965G>A ENST00000409339.3 - 15 1839 c.1726C>T c.(1726-1728)Cat>Tat p.H576Y NCAPG2_ENST00000449727.2_Missense_Mutation_p.H576Y|NCAPG2_ENST00000275830.10_Missense_Mutation_p.H368Y|NCAPG2_ENST00000409423.1_Missense_Mutation_p.H576Y|NCAPG2_ENST00000541468.1_Missense_Mutation_p.H77Y|NCAPG2_ENST00000356309.3_Missense_Mutation_p.H576Y Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 576 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) TTTAAGCAATGACGAATAACG 0.403000 114 13 0 0 0.003610 0 0 PLCE1 51196 broad.mit.edu 37 10 96044689 96044689 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:96044689C>T ENST00000260766.3 + 22 5636 c.5002C>T c.(5002-5004)Ctt>Ttt p.L1668F PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.L1360F|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.L1360F|PLCE1_ENST00000371380.2_Missense_Mutation_p.L1668F|PLCE1-AS1_ENST00000440198.1_RNA NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1668 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity p.L1668F(1) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GCTTTCTGACCTTGTAATCTA 0.313000 13 37 0 0 0.002450 0 0 PTBP2 58155 broad.mit.edu 37 1 97278483 97278483 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:97278483C>T ENST00000236228.6 + 12 1469 c.1388_splice c.e12+1 p.P463_splice PTBP2_ENST00000394184.3_Splice_Site_p.P479_splice|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000370197.1_Splice_Site_p.P468_splice|PTBP2_ENST00000426398.2_Splice_Site_p.P463_splice|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Splice_Site_p.P468_splice NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 463 RRM 4. nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) ATCTAATATCCCGTAAGTATA 0.308000 11 16 0 0 0.000978 0 0 EPHA6 285220 broad.mit.edu 37 3 96706726 96706726 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:96706726G>A ENST00000389672.5 + 3 1041 c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K EPHA6_ENST00000470610.2_Missense_Mutation_p.E335K|EPHA6_ENST00000542517.1_Missense_Mutation_p.E241K NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 240 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GAAGAGTGCTGAAGAGCGTGA 0.478000 33 110 0 0 0.003755 0 0 SHANK2 22941 broad.mit.edu 37 11 70333233 70333233 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:70333233G>A ENST00000338508.4 - 32 3167 c.3168C>T c.(3166-3168)atC>atT p.I1056I SHANK2_ENST00000449833.2_Silent_p.I460I|SHANK2_ENST00000423696.2_Silent_p.I676I|SHANK2_ENST00000409161.1_Silent_p.I459I Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 676 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCTGGGGGTCGATCTCCATGC 0.692000 15 45 0 0 0.003163 0 0 MYOM3 127294 broad.mit.edu 37 1 24406641 24406641 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:24406641G>A ENST00000330966.7 - 20 2616 c.2454C>T c.(2452-2454)tcC>tcT p.S818S RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Silent_p.S817S|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Silent_p.S817S Q5VTT5 MYOM3_HUMAN myomesin 3 817 Fibronectin type-III 5. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GCAGCACCAGGGATGTGGCCC 0.622000 10 16 0 0 0.001368 0 0 OR7D4 125958 broad.mit.edu 37 19 9325456 9325456 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9325456C>T ENST00000308682.2 - 1 86 c.58G>A c.(58-60)Gat>Aat p.D20N NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 AGTTCAGGATCATCTGAGAGT 0.507000 32 40 0 0 0.003271 0 0 RGS9 8787 broad.mit.edu 37 17 63223473 63223473 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:63223473C>T ENST00000449996.3 + 19 2036 c.1964C>T c.(1963-1965)tCg>tTg p.S655L RGS9_ENST00000262406.9_Missense_Mutation_p.S658L NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 658 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 ACAGGAGAGTCGGGTGACCGG 0.582000 17 35 0 0 0.006122 0 0 DLG2 1740 broad.mit.edu 37 11 83344270 83344270 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:83344270G>A ENST00000398309.2 - 14 2079 c.1609C>T c.(1609-1611)Cgc>Tgc p.R537C DLG2_ENST00000398304.1_Missense_Mutation_p.R19C|DLG2_ENST00000418306.2_Missense_Mutation_p.R434C|DLG2_ENST00000404783.3_Missense_Mutation_p.R19C|DLG2_ENST00000376104.2_Missense_Mutation_p.R642C|DLG2_ENST00000543673.1_Missense_Mutation_p.R642C|DLG2_ENST00000530800.1_Missense_Mutation_p.R46C|DLG2_ENST00000426717.2_Missense_Mutation_p.R19C|DLG2_ENST00000531015.1_Missense_Mutation_p.R504C|DLG2_ENST00000376106.3_Missense_Mutation_p.R19C|DLG2_ENST00000537455.1_Missense_Mutation_p.R291C|DLG2_ENST00000330014.6_Missense_Mutation_p.R476C|DLG2_ENST00000532653.1_Missense_Mutation_p.R537C|DLG2_ENST00000280241.8_Missense_Mutation_p.R576C|DLG2_ENST00000524982.1_Missense_Mutation_p.R537C NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 537 SH3. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding p.R642C(1)|p.R537C(1)|p.R576C(1)|p.R434C(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TAGAGGGAGCGTTTCTGATTG 0.478000 19 13 0 0 0.003954 0 0 PCNT 5116 broad.mit.edu 37 21 47831942 47831942 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:47831942C>T ENST00000359568.5 + 28 6062 c.5955C>T c.(5953-5955)tcC>tcT p.S1985S PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1985 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TGGAGGCCTCCCATGATGCTG 0.642000 8 39 0 0 0.000673 0 0 KIAA1467 57613 broad.mit.edu 37 12 13221609 13221609 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:13221609C>T ENST00000197268.8 + 9 1452 c.1332C>T c.(1330-1332)ttC>ttT p.F444F NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 444 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) CATTAGATTTCCTTCTGCAGA 0.383000 9 58 0 0 0.006214 0 0 SULT2A1 6822 broad.mit.edu 37 19 48374808 48374808 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:48374808C>T ENST00000222002.3 - 6 901 c.762G>A c.(760-762)tgG>tgA p.W254* NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 254 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) AGTGATTTTTCCAGTCCCCAG 0.483000 35 15 0 0 0.003271 0 0 HDAC9 9734 broad.mit.edu 37 7 18687443 18687443 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:18687443G>A ENST00000406451.3 + 10 1212 c.1062G>A c.(1060-1062)gaG>gaA p.E354E HDAC9_ENST00000456174.2_Silent_p.E326E|HDAC9_ENST00000524023.1_Silent_p.E277E|HDAC9_ENST00000417496.2_Silent_p.E352E|HDAC9_ENST00000428307.2_Silent_p.E310E|HDAC9_ENST00000406072.1_Silent_p.E341E|HDAC9_ENST00000432645.2_Silent_p.E354E|HDAC9_ENST00000405010.3_Silent_p.E354E|HDAC9_ENST00000441542.2_Silent_p.E357E|HDAC9_ENST00000401921.1_Silent_p.E313E NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 354 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AGAAGTGTGAGACGCAGACGC 0.483000 4 28 0 0 0.000602 0 0 TRBV4-1 28617 broad.mit.edu 37 7 142013374 142013374 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:142013374G>A ENST00000390357.3 + 0 258 CTCTATAAATGAAAGTGTGCG 0.483000 184 22 0 0 0.003610 0 0 FRYL 285527 broad.mit.edu 37 4 48552675 48552675 + Silent SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:48552675G>T ENST00000537810.1 - 38 5171 c.4567C>A c.(4567-4569)Cgg>Agg p.R1523R FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000507711.1_Silent_p.R1523R|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.R1523R|FRYL_ENST00000358350.4_Silent_p.R1523R O94915 FRYL_HUMAN FRY-like 1523 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TGATGTTGCCGATTCAAATGA 0.363000 31 39 1.90571e-15 3.10125e-15 0.004289 1 0 FGFR4 2264 broad.mit.edu 37 5 176520541 176520541 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176520541C>T ENST00000292408.4 + 10 1631 c.1386C>T c.(1384-1386)ttC>ttT p.F462F FGFR4_ENST00000292410.3_Silent_p.F422F|FGFR4_ENST00000502906.1_Silent_p.F462F|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000393637.1_Silent_p.F422F NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 462 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) TATGGGAGTTCCCCCGGGACA 0.687000 TSP Lung(9;0.080) 51 29 0 0 0.003610 0 0 CTCFL 140690 broad.mit.edu 37 20 56083709 56083709 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:56083709G>A ENST00000429804.2 - 8 2037 c.1477C>T c.(1477-1479)Ccg>Tcg p.P493S CTCFL_ENST00000422869.2_Missense_Mutation_p.P543S|CTCFL_ENST00000539382.1_Missense_Mutation_p.P338S|CTCFL_ENST00000422109.2_Missense_Mutation_p.P411L|CTCFL_ENST00000423479.2_Missense_Mutation_p.P543S|CTCFL_ENST00000432255.2_Missense_Mutation_p.P399S|CTCFL_ENST00000371196.2_Missense_Mutation_p.P543S|CTCFL_ENST00000243914.3_Missense_Mutation_p.P543S|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000502686.2_Missense_Mutation_p.P281S|CTCFL_ENST00000433949.2_Missense_Mutation_p.P543S NM_001269046.1 NP_001255975.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 543 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TAAACAGTCGGGATGAAATTT 0.438000 25 197 0 0 0.004656 0 0 SUN5 140732 broad.mit.edu 37 20 31585481 31585481 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:31585481A>T ENST00000356173.3 - 6 445 c.353T>A c.(352-354)tTt>tAt p.F118Y SUN5_ENST00000375523.3_Missense_Mutation_p.F93Y NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 118 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 GTGAATAGAAAACATCCAGAA 0.473000 22 48 0 0 0.002780 0 0 UNC5A 90249 broad.mit.edu 37 5 176306754 176306754 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176306754C>A ENST00000329542.4 + 15 2670 c.2396C>A c.(2395-2397)cCc>cAc p.P799H UNC5A_ENST00000261961.3_Missense_Mutation_p.P759H NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 799 Death. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGCCCAGCCCCACAGCCATG 0.692000 11 50 4.68919e-08 7.58281e-08 0.000673 1 0 MAP1B 4131 broad.mit.edu 37 5 71490076 71490076 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:71490076C>T ENST00000296755.7 + 5 1192 c.894C>T c.(892-894)atC>atT p.I298I NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 298 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GGAAGCTCATCCGACACTTAG 0.493000 90 46 0 0 0.003610 0 0 CASS4 57091 broad.mit.edu 37 20 55020983 55020983 + Missense_Mutation SNP C C T rs139063252 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:55020983C>T ENST00000371336.3 + 3 688 c.487C>T c.(487-489)Cgg>Tgg p.R163W CASS4_ENST00000434344.1_Missense_Mutation_p.R163W|CASS4_ENST00000360314.3_Missense_Mutation_p.R163W NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 163 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CAGACCTGTCCGGGCCTCACT 0.567000 29 30 0 0 0.003271 0 0 KCNJ16 3773 broad.mit.edu 37 17 68129217 68129217 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:68129217G>A ENST00000585558.1 + 4 1482 c.1094G>A c.(1093-1095)gGa>gAa p.G365E KCNJ16_ENST00000392671.1_Missense_Mutation_p.G330E|KCNJ16_ENST00000392670.1_Missense_Mutation_p.G330E|KCNJ16_ENST00000283936.1_Missense_Mutation_p.G330E|KCNJ16_ENST00000586462.1_Missense_Mutation_p.G369E|KCNJ16_ENST00000589377.1_Missense_Mutation_p.G330E Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 330 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) CAGTTTGAAGGAAGTGTGGAA 0.453000 13 56 0 0 0.003163 0 0 GLB1L2 89944 broad.mit.edu 37 11 134241034 134241034 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:134241034C>T ENST00000535456.2 + 13 1536 c.1348C>T c.(1348-1350)Cgg>Tgg p.R450W GLB1L2_ENST00000389881.3_Missense_Mutation_p.R450W|GLB1L2_ENST00000339772.7_Missense_Mutation_p.R450W|GLB1L2_ENST00000529077.1_3'UTR NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 450 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CGTGCATGATCGGGGGCAGGT 0.542000 16 24 0 0 0.006122 0 0 ALPK3 57538 broad.mit.edu 37 15 85410592 85410592 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:85410592C>T ENST00000258888.5 + 13 5541 c.5374C>T c.(5374-5376)Cga>Tga p.R1792* NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1792 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity p.R1792*(2) NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) TACCAAACTCCGAGGGTGAGT 0.542000 44 47 0 0 0.003610 0 0 SLC5A12 159963 broad.mit.edu 37 11 26734223 26734223 + Missense_Mutation SNP G G A rs145373937 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:26734223G>A ENST00000396005.3 - 2 679 c.370C>T c.(370-372)Cgc>Tgc p.R124C SLC5A12_ENST00000280467.6_Missense_Mutation_p.R124C NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 124 sodium ion transport apical plasma membrane|integral to membrane symporter activity p.R124C(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 GCAGCATAGCGAACTGGTTTG 0.398000 130 33 0 0 0.003610 0 0 ABCA8 10351 broad.mit.edu 37 17 66871789 66871789 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:66871789C>T ENST00000269080.2 - 34 4473 c.4336G>A c.(4336-4338)Gac>Aac p.D1446N ABCA8_ENST00000430352.2_Missense_Mutation_p.D1486N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1486N NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1446 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GCCACTCGGTCACACACGGCC 0.557000 26 40 0 0 0.001786 0 0 HS3ST3B1 9953 broad.mit.edu 37 17 14248381 14248381 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:14248381C>T ENST00000360954.2 + 2 1027 c.591C>T c.(589-591)acC>acT p.T197T NM_006041.1 NP_006032.1 Q9Y662 HS3SB_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 197 heparan sulfate proteoglycan biosynthetic process, enzymatic modification Golgi membrane|integral to plasma membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity large_intestine(3)|lung(3)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) GGCAGATCACCATGGAGAAGA 0.612000 7 5 0 0 0.004482 0 0 PALD1 27143 broad.mit.edu 37 10 72291208 72291208 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:72291208G>A ENST00000263563.6 + 5 899 c.631G>A c.(631-633)Gag>Aag p.E211K NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 CATCCGGAAAGAGGTGAGGAC 0.617000 10 24 0 0 0.000673 0 0 R3HDM2 22864 broad.mit.edu 37 12 57648850 57648850 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57648850G>A ENST00000402412.1 - 24 3069 c.2679C>T c.(2677-2679)acC>acT p.T893T R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000441731.2_Silent_p.T574T|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000347140.3_Silent_p.T879T|R3HDM2_ENST00000393811.2_Silent_p.T606T|R3HDM2_ENST00000358907.2_Silent_p.T879T|R3HDM2_ENST00000403821.2_Silent_p.T913T Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 879 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CCTCAGTACGGGTGATGCCCT 0.622000 16 146 0 0 0.007413 0 0 MAPRE1 22919 broad.mit.edu 37 20 31424587 31424587 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:31424587C>T ENST00000375571.5 + 4 554 c.415C>T c.(415-417)Cct>Tct p.P139S NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 139 Interaction with MTUS2/TIP150. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 TGCAGTGGCTCCTTCCCTTGT 0.433000 38 79 0 0 0.002522 0 0 CUL9 23113 broad.mit.edu 37 6 43167691 43167691 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:43167691C>T ENST00000252050.4 + 14 3265 c.3181C>T c.(3181-3183)Cta>Tta p.L1061L CUL9_ENST00000372647.2_Silent_p.L1061L|CUL9_ENST00000354495.3_Silent_p.L951L NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1061 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GACCTGCTTCCTACATCGCCT 0.502000 80 15 0 0 0.003610 0 0 WSCD2 9671 broad.mit.edu 37 12 108634193 108634193 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:108634193A>T ENST00000332082.4 + 9 2035 c.1217A>T c.(1216-1218)aAa>aTa p.K406I WSCD2_ENST00000547525.1_Missense_Mutation_p.K406I|WSCD2_ENST00000261400.3_Missense_Mutation_p.K406I|WSCD2_ENST00000549903.1_Missense_Mutation_p.K406I Q2TBF2 WSCD2_HUMAN WSC domain containing 2 406 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 AGCGGCCAGAAAGAGATCGAG 0.602000 86 25 0 0 0.003610 0 0 ZNF681 148213 broad.mit.edu 37 19 23926753 23926753 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:23926753G>A ENST00000402377.3 - 4 1740 c.1599C>T c.(1597-1599)ccC>ccT p.P533P ZNF681_ENST00000395385.3_Silent_p.P464P NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CACATGTGTAGGGTTTCTCTC 0.378000 10 41 0 0 0.000978 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087043 39087043 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:39087043G>A ENST00000400482.3 - 3 1006 c.417C>T c.(415-417)ttC>ttT p.F139F KCNJ6_ENST00000288309.6_Silent_p.F139F NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 139 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) AAGCAGAGACGAACCCGTTGA 0.453000 18 76 0 0 0.002299 0 0 NDC1 55706 broad.mit.edu 37 1 54254856 54254856 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:54254856G>A ENST00000371429.3 - 15 2247 c.1649C>T c.(1648-1650)tCc>tTc p.S550F NDC1_ENST00000234725.8_Missense_Mutation_p.S435F|NDC1_ENST00000537333.1_Missense_Mutation_p.S215F|NDC1_ENST00000540001.1_Silent_p.L513L NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin AGCCTGAATGGAGGCCTCTGG 0.343000 18 30 0 0 0.002299 0 0 TNXB 7148 broad.mit.edu 37 6 32016312 32016312 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32016312G>A ENST00000375244.3 - 29 10074 c.9873C>T c.(9871-9873)tcC>tcT p.S3291S TNXB_ENST00000375247.2_Silent_p.S3289S P22105 TENX_HUMAN tenascin XB 3336 Fibronectin type-III 24. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GTACCAGGAAGGAGTCAAAGG 0.726000 42 354 0 0 0.003610 0 0 SUPT6H 6830 broad.mit.edu 37 17 27026844 27026844 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:27026844C>A ENST00000314616.6 + 33 4777 c.4494C>A c.(4492-4494)ggC>ggA p.G1498G SUPT6H_ENST00000347486.4_Silent_p.G1498G NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1498 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GGTACCGGGGCCAGATCTTCC 0.493000 24 142 9.86323e-18 1.60706e-17 0.003954 1 0 PBRM1 55193 broad.mit.edu 37 3 52620570 52620570 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:52620570G>A ENST00000356770.4 - 19 3164 c.3162C>T c.(3160-3162)gtC>gtT p.V1054V PBRM1_ENST00000409767.1_Silent_p.V1101V|PBRM1_ENST00000409114.3_Silent_p.V1101V|PBRM1_ENST00000409057.1_Silent_p.V1086V|PBRM1_ENST00000410007.1_Silent_p.V1061V|PBRM1_ENST00000337303.4_Silent_p.V1086V|PBRM1_ENST00000394830.3_Silent_p.V1061V|PBRM1_ENST00000296302.7_Silent_p.V1086V Q86U86 PB1_HUMAN polybromo 1 1086 BAH 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CATCCCGAGGGACAAACCTGA 0.448000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 27 63 0 0 0.005443 0 0 ATF6 22926 broad.mit.edu 37 1 161761236 161761236 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:161761236C>T ENST00000367942.3 + 5 460 c.393C>T c.(391-393)ccC>ccT p.P131P NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 131 Transcription activation. positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) AGATGTCTCCCCTTTCCTTAT 0.388000 20 70 0 0 0.002299 0 0 AKAP9 10142 broad.mit.edu 37 7 91730220 91730220 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:91730220C>T ENST00000359028.2 + 45 11184 c.10959C>T c.(10957-10959)gcC>gcT p.A3653A AKAP9_ENST00000358100.2_Silent_p.A3599A|AKAP9_ENST00000356239.3_Silent_p.A3649A Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3653 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CCATCATTGCCTCTGAAAAAG 0.408000 T BRAF papillary thyroid 35 111 0 0 0.001951 0 0 HHEX 3087 broad.mit.edu 37 10 94454438 94454438 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:94454438C>T ENST00000282728.5 + 4 2525 c.726C>T c.(724-726)tcC>tcT p.S242S HHEX_ENST00000472590.2_Silent_p.S70S|HHEX_ENST00000492654.2_Silent_p.S70S NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 242 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 CCCCTGCCTCCCAGGAAGACC 0.458000 106 270 0 0 0.003610 0 0 DENND4C 55667 broad.mit.edu 37 9 19299242 19299242 + Missense_Mutation SNP G G C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:19299242G>C ENST00000380432.2 + 4 448 c.415G>C c.(415-417)Gca>Cca p.A139P DENND4C_ENST00000602925.1_Missense_Mutation_p.A375P|DENND4C_ENST00000434457.2_Missense_Mutation_p.A375P|DENND4C_ENST00000307015.9_5'UTR NM_017925.4 NP_060395.5 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 139 DENN. integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 AGTCCATGATGCATTAATATT 0.269000 7 4 0 0 0.006214 0 0 TLN2 83660 broad.mit.edu 37 15 63058592 63058592 + Missense_Mutation SNP C C T rs146711240 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:63058592C>T ENST00000561311.1 + 40 5397 c.5167C>T c.(5167-5169)Cgg>Tgg p.R1723W TLN2_ENST00000306829.6_Missense_Mutation_p.R1723W|TLN2_ENST00000472902.1_Missense_Mutation_p.R116W Q9Y4G6 TLN2_HUMAN talin 2 1723 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CACAGCGGCTCGGGGAGAAGC 0.542000 15 44 0 0 0.006122 0 0 MRVI1 10335 broad.mit.edu 37 11 10602094 10602094 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:10602094C>T ENST00000547195.1 - 19 2630 c.2130G>A c.(2128-2130)ctG>ctA p.L710L MRVI1_ENST00000552103.1_Silent_p.L710L|MRVI1_ENST00000436272.1_Silent_p.L774L|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000541483.1_Silent_p.L595L|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000558540.1_Silent_p.L486L|MRVI1_ENST00000527509.2_Silent_p.L710L|MRVI1_ENST00000534266.2_Silent_p.L486L|MRVI1_ENST00000421747.1_Silent_p.L792L|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000423302.2_Silent_p.L801L|MRVI1_ENST00000531107.1_Silent_p.L793L|MRVI1_ENST00000545852.1_Silent_p.L486L|MRVI1_ENST00000424001.1_Silent_p.L486L NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 774 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) CCTCCTCCTTCAGGTCTTGAA 0.493000 76 16 0 0 0.003610 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52131337 52131337 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:52131337C>T ENST00000222107.4 - 5 885 c.747G>A c.(745-747)gaG>gaA p.E249E SIGLEC5_ENST00000429354.3_Silent_p.E249E|SIGLEC5_ENST00000599649.1_Silent_p.E249E|SIGLEC5_ENST00000570106.2_Silent_p.E249E|SIGLEC5_ENST00000534261.2_Silent_p.E249E O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 249 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TTTGCAGGATCTCTAGGGCTT 0.602000 17 13 0 0 0.001216 0 0 DNTT 1791 broad.mit.edu 37 10 98095702 98095702 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:98095702G>A ENST00000419175.1 + 10 1581 c.1411G>A c.(1411-1413)Gat>Aat p.D471N DNTT_ENST00000371174.2_Missense_Mutation_p.D472N NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 472 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) GATGATTCTGGATAACCATGC 0.443000 98 92 0 0 0.003610 0 0 C11orf30 56946 broad.mit.edu 37 11 76183643 76183643 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:76183643C>T ENST00000529032.1 + 7 867 c.867C>T c.(865-867)ttC>ttT p.F289F C11orf30_ENST00000525919.1_Silent_p.F290F|C11orf30_ENST00000334736.3_Silent_p.F289F|C11orf30_ENST00000525038.1_Silent_p.F304F|C11orf30_ENST00000524490.1_Silent_p.F290F|C11orf30_ENST00000343878.3_Silent_p.F289F|C11orf30_ENST00000524767.1_Silent_p.F304F|C11orf30_ENST00000533248.1_Silent_p.F303F Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 289 Interaction with BRCA2. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GCTCAACCTTCGTGCCCAACA 0.388000 18 48 0 0 0.001523 0 0 TRAK1 22906 broad.mit.edu 37 3 42242542 42242542 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:42242542C>T ENST00000327628.5 + 12 1823 c.1423C>T c.(1423-1425)Ctg>Ttg p.L475L TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.L401L|TRAK1_ENST00000341421.3_Silent_p.L417L|TRAK1_ENST00000396175.1_Silent_p.L417L NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 475 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 GGCAGCCGACCTGGGGTGAGC 0.532000 11 40 0 0 0.000978 0 0 MICAL3 57553 broad.mit.edu 37 22 18301606 18301606 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:18301606G>A ENST00000441493.2 - 26 4173 c.3821C>T c.(3820-3822)tCc>tTc p.S1274F NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1274 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CTGGGTAGGGGATGGGACAGT 0.682000 18 34 0 0 0.006122 0 0 TRRAP 8295 broad.mit.edu 37 7 98547149 98547149 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:98547149C>T ENST00000359863.4 + 35 5086 c.4877C>T c.(4876-4878)cCc>cTc p.P1626L TRRAP_ENST00000446306.3_Missense_Mutation_p.P1607L|TRRAP_ENST00000355540.3_Missense_Mutation_p.P1608L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1626 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCTGTGCGCCCCGGTTCGCCC 0.647000 18 41 0 0 0.001216 0 0 LINC00336 401253 broad.mit.edu 37 6 33561001 33561001 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:33561001G>A ENST00000477984.1 - 0 114 NR_027908.1 GGAACCAAGAGGTTGGCACCG 0.721000 7 10 0 0 0.003080 0 0 NBPF10 100132406 broad.mit.edu 37 1 145299842 145299842 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:145299842C>T ENST00000342960.5 + 6 926 c.891C>T c.(889-891)ccC>ccT p.P297P RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.P26P|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 297 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AATTGCGCCCCCAGCTGGCAG 0.478000 50 347 0 0 0.003610 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923456 9923456 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:9923456G>A ENST00000396573.2 - 10 2140 c.1831C>T c.(1831-1833)Ctg>Ttg p.L611L GRIN2A_ENST00000404927.2_Silent_p.L611L|GRIN2A_ENST00000396575.2_Silent_p.L611L|GRIN2A_ENST00000330684.3_Silent_p.L611L|GRIN2A_ENST00000535259.1_Silent_p.L454L|GRIN2A_ENST00000562109.1_Silent_p.L611L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 611 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGAACACCAGGCCCCAAAGA 0.458000 16 56 0 0 0.006122 0 0 PRG4 10216 broad.mit.edu 37 1 186269233 186269233 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:186269233C>T ENST00000445192.2 + 3 132 c.87C>T c.(85-87)agC>agT p.S29S PRG4_ENST00000367483.4_Intron|PRG4_ENST00000367485.4_Silent_p.S29S|PRG4_ENST00000367486.3_Silent_p.S29S|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 29 SMB 1. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ATTTATCAAGCTGTGCAGGGA 0.438000 67 37 0 0 0.003610 0 0 CEACAM21 90273 broad.mit.edu 37 19 42083671 42083671 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:42083671C>T ENST00000187608.9 + 2 224 c.184C>T c.(184-186)Ctt>Ttt p.L62F CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Missense_Mutation_p.L62F|CEACAM21_ENST00000407170.2_5'UTR NM_001098506.1|NM_033543.3 NP_001091976.1|NP_291021.2 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 62 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 GCCCGAGAATCTTTACAGCTA 0.502000 15 39 0 0 0.003163 0 0 KIAA1683 80726 broad.mit.edu 37 19 18376886 18376886 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:18376886C>T ENST00000392413.3 - 3 1679 c.1464G>A c.(1462-1464)gtG>gtA p.V488V KIAA1683_ENST00000600328.2_Silent_p.V488V|KIAA1683_ENST00000600359.2_Silent_p.V442V NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 488 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AGGGCTTGGTCACCCCAACTG 0.592000 24 45 0 0 0.006320 0 0 BTNL8 79908 broad.mit.edu 37 5 180338607 180338607 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:180338607G>A ENST00000231229.4 + 3 900 c.666G>A c.(664-666)caG>caA p.Q222Q BTNL8_ENST00000508408.1_Silent_p.Q222Q|BTNL8_ENST00000505126.1_Silent_p.Q15Q|BTNL8_ENST00000400707.3_Silent_p.Q97Q|BTNL8_ENST00000533815.2_Silent_p.Q38Q|BTNL8_ENST00000340184.4_Silent_p.Q222Q|BTNL8_ENST00000511704.1_Silent_p.Q106Q NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 222 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAGGGTACAGATAGGAGGTG 0.547000 14 56 0 0 0.002450 0 0 PSG6 5675 broad.mit.edu 37 19 43421912 43421912 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:43421912C>T ENST00000187910.2 - 1 98 c.33G>A c.(31-33)caG>caA p.Q11Q PSG6_ENST00000402603.4_Silent_p.Q11Q|PSG6_ENST00000601833.1_Intron|PSG6_ENST00000292125.2_Silent_p.Q11Q NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) AGGTGATGTGCTGAGTGCAGG 0.597000 29 83 0 0 0.004878 0 0 COL20A1 57642 broad.mit.edu 37 20 61937319 61937319 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:61937319G>A ENST00000422202.1 + 4 492 c.424G>A c.(424-426)Ggg>Agg p.G142R COL20A1_ENST00000435874.1_Missense_Mutation_p.G142R|COL20A1_ENST00000326996.6_Missense_Mutation_p.G142R|COL20A1_ENST00000358894.6_Missense_Mutation_p.G142R Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 142 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CTCCCACACGGGGAGCCCAGA 0.642000 6 57 0 0 0.001984 0 0 HRH3 11255 broad.mit.edu 37 20 60791640 60791640 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:60791640G>A ENST00000340177.5 - 3 1044 c.760C>T c.(760-762)Cca>Tca p.P254S HRH3_ENST00000317393.6_Missense_Mutation_p.P254S NM_007232.2 NP_009163.2 Q9Y5N1 HRH3_HUMAN histamine receptor H3 254 Poly-Pro. G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) CCAGGCGGTGGGGGTGGTGAG 0.736000 11 12 0 0 0.000978 0 0 DISC1 27185 broad.mit.edu 37 1 232162271 232162271 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:232162271A>C ENST00000439617.2 + 12 2451 c.2398A>C c.(2398-2400)Atc>Ctc p.I800L DISC1_ENST00000366637.3_Missense_Mutation_p.I110L NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 800 Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) TCACACAGCAATCCACAGTCA 0.378000 17 6 0 0 0.007413 0 0 OR2F2 135948 broad.mit.edu 37 7 143632574 143632574 + Silent SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:143632574A>C ENST00000408955.2 + 1 316 c.249A>C c.(247-249)gcA>gcC p.A83A NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) AGCTGCTGGCACATTTTCTTG 0.522000 115 253 0 0 0.003610 0 0 MYO3B 140469 broad.mit.edu 37 2 171371488 171371488 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:171371488G>A ENST00000334231.6 + 29 3455 c.3455G>A c.(3454-3456)gGa>gAa p.G1152E MYO3B_ENST00000409044.3_Missense_Mutation_p.G1116E|MYO3B_ENST00000408978.4_Missense_Mutation_p.G1143E|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 1143 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GGTACGAGGGGAAGTGCCGAG 0.498000 9 21 0 0 0.000978 0 0 BCAT1 586 broad.mit.edu 37 12 24985736 24985736 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:24985736C>T ENST00000261192.7 - 9 1491 c.965G>A c.(964-966)gGg>gAg p.G322E BCAT1_ENST00000539282.1_Missense_Mutation_p.G334E|RP11-625L16.3_ENST00000545410.1_RNA|BCAT1_ENST00000342945.5_Missense_Mutation_p.G261E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G285E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G321E NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 322 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) CACTCTGTTCCCCTCCAGGGC 0.423000 8 18 0 0 0.004482 0 0 LAMB1 3912 broad.mit.edu 37 7 107576057 107576057 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:107576057C>T ENST00000393561.1 - 25 4247 c.4063G>A c.(4063-4065)Gca>Aca p.A1355T LAMB1_ENST00000222399.6_Missense_Mutation_p.A1331T|LAMB1_ENST00000474380.1_5'UTR P07942 LAMB1_HUMAN laminin, beta 1 1331 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCTCCTCTGCCTCAAGAGAC 0.502000 189 20 0 0 0.003610 0 0 SLC9A2 6549 broad.mit.edu 37 2 103236461 103236461 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:103236461C>T ENST00000233969.2 + 1 296 c.154C>T c.(154-156)Cct>Tct p.P52S NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 52 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CCCGCCTAGCCCTGCGAGCGT 0.682000 8 11 0 0 0.006214 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716179 13716179 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:13716179C>T ENST00000279593.3 - 13 4202 c.3993G>A c.(3991-3993)atG>atA p.M1331I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1331 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGCTCCCATCCATGAATCGGC 0.607000 9 42 0 0 0.004482 0 0 RGPD8 727851 broad.mit.edu 37 2 113147112 113147112 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:113147112G>A ENST00000302558.3 - 20 3601 c.3410C>T c.(3409-3411)tCt>tTt p.S1137F RGPD8_ENST00000409750.1_Missense_Mutation_p.S997F NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 ATCACCATCAGAGAAATCACT 0.453000 25 266 0 0 0.005524 0 0 CRLF1 9244 broad.mit.edu 37 19 18707840 18707840 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:18707840G>A ENST00000392386.3 - 5 910 c.717C>T c.(715-717)ccC>ccT p.P239P NM_004750.4 NP_004741.1 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 239 Fibronectin type-III 2. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 CGTGCACGTCGGGCGGGGGGT 0.672000 12 17 0 0 0.001368 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351431 40351431 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:40351431G>A ENST00000310169.2 + 4 1037 c.898_splice c.e4+1 p.G300_splice NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 300 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) GCCCCTGATAGGTGAGTCCAA 0.488000 29 38 0 0 0.003271 0 0 MUC17 140453 broad.mit.edu 37 7 100677939 100677939 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100677939C>T ENST00000306151.4 + 3 3306 c.3242C>T c.(3241-3243)tCa>tTa p.S1081L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1081 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAAGCCAGTTCATCTTCTACA 0.512000 536 1355 0 0 0.003610 0 0 NR6A1 2649 broad.mit.edu 37 9 127298175 127298175 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:127298175G>A ENST00000487099.2 - 7 1218 c.1061C>T c.(1060-1062)tCc>tTc p.S354F NR6A1_ENST00000373584.3_Missense_Mutation_p.S350F|NR6A1_ENST00000344523.4_Missense_Mutation_p.S353F|NR6A1_ENST00000416460.2_Missense_Mutation_p.S349F NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 354 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 TTCTTCATCGGAGGGCGAGTA 0.532000 31 99 0 0 0.003271 0 0 DNPEP 23549 broad.mit.edu 37 2 220239721 220239721 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:220239721G>A ENST00000273075.4 - 14 1483 c.1263C>T c.(1261-1263)acC>acT p.T421T DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Silent_p.T429T|DNPEP_ENST00000373972.1_Silent_p.T346T NM_012100.2 NP_036232.2 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 411 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) TTCCACAGGGGGTGTCATTCC 0.567000 9 13 0 0 0.000673 0 0 CDHR2 54825 broad.mit.edu 37 5 176019740 176019740 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176019740G>A ENST00000510636.1 + 31 4025 c.3751G>A c.(3751-3753)Gac>Aac p.D1251N CDHR2_ENST00000506348.1_Missense_Mutation_p.D1251N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D1251N NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1251 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CTCCCTGGACGACAACTCTGT 0.547000 74 17 0 0 0.003610 0 0 AGAP3 116988 broad.mit.edu 37 7 150835376 150835376 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:150835376C>T ENST00000397238.2 + 12 1642 c.1642C>T c.(1642-1644)Ctg>Ttg p.L548L AGAP3_ENST00000463381.1_Intron NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 512 PH. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 CACCACTTCCCTGCCCCCAGG 0.677000 33 4 0 0 0.006999 0 0 PTPRF 5792 broad.mit.edu 37 1 44083121 44083121 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:44083121C>T ENST00000359947.4 + 24 4417 c.4077C>T c.(4075-4077)atC>atT p.I1359I PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.I718I|PTPRF_ENST00000438120.1_Silent_p.I1350I|PTPRF_ENST00000372413.3_Silent_p.I1350I|PTPRF_ENST00000372414.3_Silent_p.I1359I NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1359 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGCAGTCCATCGACCCTGGAC 0.567000 13 29 0 0 0.002450 0 0 SCN9A 6335 broad.mit.edu 37 2 167055571 167055571 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:167055571G>A ENST00000375387.4 - 27 5921 c.5581C>T c.(5581-5583)Cgt>Tgt p.R1861C SCN9A_ENST00000409435.1_Missense_Mutation_p.R1860C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1861C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1849C|AC010127.3_ENST00000447809.2_RNA Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1860 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) ATCTGTGAACGAAGAGAATCC 0.453000 42 60 0 0 0.002852 0 0 CHAT 1103 broad.mit.edu 37 10 50860052 50860052 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:50860052G>A ENST00000395562.2 + 12 1857 c.1388_splice c.e12+1 p.R463_splice CHAT_ENST00000351556.3_Splice_Site_p.R427_splice|CHAT_ENST00000455728.2_Splice_Site_p.R427_splice|CHAT_ENST00000339797.1_Splice_Site_p.R427_splice|CHAT_ENST00000395559.2_Splice_Site_p.R427_splice|CHAT_ENST00000337653.2_Splice_Site_p.R545_splice NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 545 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GCCTTCTACAGGTGAGTGAAG 0.512000 11 22 0 0 0.000978 0 0 PDE6C 5146 broad.mit.edu 37 10 95380735 95380735 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:95380735C>T ENST00000371447.3 + 3 859 c.721C>T c.(721-723)Cag>Tag p.Q241* NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 241 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) CCGAAGAAGCCAGGTAAAAGG 0.468000 54 162 0 0 0.003610 0 0 PGR 5241 broad.mit.edu 37 11 100999107 100999107 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:100999107G>A ENST00000325455.5 - 1 2148 c.695C>T c.(694-696)tCt>tTt p.S232F PGR_ENST00000263463.5_Missense_Mutation_p.S232F|PGR_ENST00000534013.1_Intron NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 232 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CGGACCCGCAGACTCCTCGGA 0.721000 5 18 0 0 0.000602 0 0 EYA4 2070 broad.mit.edu 37 6 133833883 133833883 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:133833883G>A ENST00000367895.5 + 15 1770 c.1306G>A c.(1306-1308)Gat>Aat p.D436N EYA4_ENST00000355286.6_Missense_Mutation_p.D413N|EYA4_ENST00000355167.3_Missense_Mutation_p.D436N|EYA4_ENST00000452339.2_Missense_Mutation_p.D382N|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.D436N|EYA4_ENST00000430974.2_Missense_Mutation_p.D388N|EYA4_ENST00000525849.1_Missense_Mutation_p.D413N|EYA4_ENST00000531901.1_Missense_Mutation_p.D442N NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 436 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TCATATAGATGATGTTTCCTC 0.368000 36 16 0 0 0.005524 0 0 TLE4 7091 broad.mit.edu 37 9 82324572 82324572 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:82324572C>T ENST00000376520.4 + 15 2222 c.1394C>T c.(1393-1395)cCa>cTa p.P465L TLE4_ENST00000376544.3_Missense_Mutation_p.P364L|TLE4_ENST00000376552.2_Missense_Mutation_p.P433L|TLE4_ENST00000265284.6_Missense_Mutation_p.P408L|TLE4_ENST00000376534.4_Missense_Mutation_p.P70L|TLE4_ENST00000376537.4_Missense_Mutation_p.P465L O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 ATGCGTGTGCCAGCAATACCT 0.458000 13 21 0 0 0.004007 0 0 HRH4 59340 broad.mit.edu 37 18 22056938 22056938 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:22056938G>A ENST00000256906.4 + 3 685 c.585G>A c.(583-585)atG>atA p.M195I HRH4_ENST00000426880.2_Missense_Mutation_p.M107I NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 195 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) ATTTCAACATGAATATTTATT 0.438000 30 89 0 0 0.001786 0 0 FAM135A 57579 broad.mit.edu 37 6 71190694 71190694 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:71190694C>T ENST00000418814.2 + 9 1247 c.633C>T c.(631-633)gtC>gtT p.V211V FAM135A_ENST00000361499.3_Silent_p.V211V|FAM135A_ENST00000457062.2_Silent_p.V168V|FAM135A_ENST00000505868.1_Silent_p.V211V|FAM135A_ENST00000505769.1_Silent_p.V211V|FAM135A_ENST00000370479.3_Silent_p.V168V NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 211 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 AAAGTGTGGTCTTTGGTATTA 0.343000 37 9 0 0 0.007835 0 0 DSCAM 1826 broad.mit.edu 37 21 41711233 41711233 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:41711233C>A ENST00000400454.1 - 7 1797 c.1320G>T c.(1318-1320)tgG>tgT p.W440C NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 440 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CGTCCAGGGTCCACGTGATCG 0.537000 7 34 0.00448238 0.00716665 0.004482 1 0 OR12D3 81797 broad.mit.edu 37 6 29342738 29342738 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:29342738C>T ENST00000396806.3 - 1 330 c.327G>A c.(325-327)gaG>gaA p.E109E OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 GTAAAATGGCCTCTGTGCTTC 0.493000 51 16 0 0 0.003610 0 0 GNAT3 346562 broad.mit.edu 37 7 80091847 80091847 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:80091847C>T ENST00000398291.3 - 6 784 c.691G>A c.(691-693)Gac>Aac p.D231N CD36_ENST00000435819.1_Intron NM_001102386.1 NP_001095856.1 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha transducing 3 231 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 AGGACCATGTCATAGGCACTA 0.403000 126 8 0 0 0.003610 0 0 PCNXL2 80003 broad.mit.edu 37 1 233270786 233270786 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:233270786G>A ENST00000258229.8 - 21 4044 c.3810C>T c.(3808-3810)ttC>ttT p.F1270F PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Silent_p.F403F NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1270 integral to membrane p.F1270F(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ACACCATGAAGAAATCCAGTA 0.338000 45 39 0 0 0.003610 0 0 MUC17 140453 broad.mit.edu 37 7 100684356 100684356 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100684356G>A ENST00000306151.4 + 3 9723 c.9659G>A c.(9658-9660)gGa>gAa p.G3220E NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3220 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTAGTGAAGGAATGACTCCA 0.493000 196 424 0 0 0.003610 0 0 CATSPERB 79820 broad.mit.edu 37 14 92189534 92189534 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:92189534C>T ENST00000256343.3 - 4 325 c.e4-1 NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) ACTGGATTTTCTTTAGGAAAG 0.353000 15 5 0 0 0.002450 0 0 PHRF1 57661 broad.mit.edu 37 11 587401 587401 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:587401C>A ENST00000264555.5 + 4 485 c.357C>A c.(355-357)gcC>gcA p.A119A PHRF1_ENST00000413872.2_Silent_p.A118A|PHRF1_ENST00000416188.2_Silent_p.A119A|PHRF1_ENST00000533464.1_Silent_p.A115A NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 119 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GAGACCAGGCCGTGGGGACGC 0.552000 22 20 1.66031e-10 2.69204e-10 0.003954 1 0 PHKA1 5255 broad.mit.edu 37 X 71915728 71915728 + Splice_Site SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:71915728T>A ENST00000373545.3 - 4 724 c.e4-2 PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000373542.4_Splice_Site|PHKA1-AS1_ENST00000420998.1_RNA P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TTTATCCACCTGAAAAGAACA 0.358000 65 8 0 0 0.003610 0 0 LAMA1 284217 broad.mit.edu 37 18 6997782 6997782 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:6997782C>T ENST00000389658.3 - 33 4858 c.4765G>A c.(4765-4767)Gga>Aga p.G1589R NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1589 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACAAAATTCCATATGGGACA 0.408000 39 9 0 0 0.002222 0 0 TRMT1 55621 broad.mit.edu 37 19 13227068 13227068 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:13227068G>A ENST00000592062.1 - 3 716 c.146C>T c.(145-147)cCa>cTa p.P49L TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000357720.4_Missense_Mutation_p.P49L|TRMT1_ENST00000221504.8_Missense_Mutation_p.P49L|TRMT1_ENST00000437766.1_Missense_Mutation_p.P49L Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 49 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) GACTTCACGTGGACGTTCTTC 0.587000 19 59 0 0 0.002780 0 0 CYP1B1 1545 broad.mit.edu 37 2 38298036 38298036 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:38298036C>T ENST00000260630.3 - 3 1862 c.1461G>A c.(1459-1461)ctG>ctA p.L487L CYP1B1_ENST00000407341.1_Silent_p.L487L|CYP1B1_ENST00000494864.1_5'UTR NM_000104.3 NP_000095.2 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 487 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Estrone(DB00655) ACTGGTGAGCCAGGATGGAGA 0.443000 17 34 0 0 0.001216 0 0 PCDH15 65217 broad.mit.edu 37 10 55582628 55582628 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:55582628C>T ENST00000361849.3 - 34 5258 c.4864G>A c.(4864-4866)Ggt>Agt p.G1622S PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1597S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1617S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1620S|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1580S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1551S NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1620 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTGCTGCTACCTCTTTTGTTT 0.413000 HNSCC(58;0.16) 62 57 0 0 0.003610 0 0 HIST3H3 8290 broad.mit.edu 37 1 228612796 228612796 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:228612796C>T ENST00000366696.1 - 1 230 c.231G>A c.(229-231)caG>caA p.Q77Q NM_003493.2 NP_003484.1 Q16695 H31T_HUMAN histone cluster 3, H3 77 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|lung(2)|prostate(2)|skin(1) 6 Prostate(94;0.0724) TCTTAAAGTCCTGAGCGATCT 0.627000 37 96 0 0 0.004878 0 0 MYH8 4626 broad.mit.edu 37 17 10299737 10299737 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10299737C>T ENST00000403437.2 - 33 4657 c.4563G>A c.(4561-4563)gaG>gaA p.E1521E CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1521 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GCTTTCCTCCCTCTGCAATCT 0.428000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 20 9 0 0 0.001882 0 0 ARID5B 84159 broad.mit.edu 37 10 63850952 63850952 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:63850952C>T ENST00000279873.7 + 10 2140 c.1730C>T c.(1729-1731)tCc>tTc p.S577F ARID5B_ENST00000309334.5_Missense_Mutation_p.S334F NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 577 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) AAACAAGAATCCAAACTGTGC 0.547000 17 36 0 0 0.001882 0 0 NMNAT3 349565 broad.mit.edu 37 3 139297746 139297746 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:139297746C>T ENST00000406164.1 - 4 713 c.150G>A c.(148-150)caG>caA p.Q50Q NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000296202.7_Silent_p.Q87Q|NMNAT3_ENST00000512391.1_Silent_p.Q87Q|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000339837.5_Silent_p.Q50Q|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000511444.1_Silent_p.Q50Q Q96T66 NMNA3_HUMAN nicotinamide nucleotide adenylyltransferase 3 87 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 TCCACTGTGCCTGCTCACTCT 0.592000 11 26 0 0 0.001855 0 0 A2M 2 broad.mit.edu 37 12 9231867 9231867 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:9231867C>T ENST00000318602.7 - 25 3399 c.3092G>A c.(3091-3093)cGa>cAa p.R1031Q A2M_ENST00000542567.1_5'UTR NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 1031 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) CCTGCCATATCGCTCCCCAAA 0.413000 33 20 0 0 0.004289 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101813454 101813454 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:101813454C>T ENST00000506729.1 - 3 899 c.728G>A c.(727-729)gGa>gAa p.G243E SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G243E Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 243 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AAGAGGCATTCCTGCTATTCC 0.408000 23 87 0 0 0.003330 0 0 PARP9 83666 broad.mit.edu 37 3 122269585 122269585 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:122269585G>A ENST00000462315.1 - 6 1465 c.1172C>T c.(1171-1173)tCc>tTc p.S391F PARP9_ENST00000477522.2_Missense_Mutation_p.S391F|PARP9_ENST00000471785.1_Missense_Mutation_p.S391F|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000360356.2_Missense_Mutation_p.S426F NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 426 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) GGCAGGAAAGGAAATGGAAGT 0.348000 13 28 0 0 0.003163 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40620102 40620102 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:40620102C>T ENST00000343619.4 + 4 394 c.271C>T c.(271-273)Ccc>Tcc p.P91S ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.P91S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.P91S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.P91S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.P91S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.P91S NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 91 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) GGTTCCCTTCCCCCGGGACAT 0.398000 10 30 0 0 0.001855 0 0 WDR96 80217 broad.mit.edu 37 10 105945794 105945794 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:105945794C>T ENST00000357060.3 - 15 2063 c.1948G>A c.(1948-1950)Gga>Aga p.G650R WDR96_ENST00000428666.1_Missense_Mutation_p.G651R|WDR96_ENST00000278064.2_Missense_Mutation_p.G581R NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 650 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGCCACAATCCATGTGAAGAC 0.373000 41 49 0 0 0.003610 0 0 FGD3 89846 broad.mit.edu 37 9 95782638 95782638 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:95782638G>A ENST00000375482.3 + 13 1922 c.1426G>A c.(1426-1428)Gaa>Aaa p.E476K FGD3_ENST00000416701.2_Missense_Mutation_p.E476K|FGD3_ENST00000337352.6_Missense_Mutation_p.E476K|FGD3_ENST00000538555.1_Missense_Mutation_p.E79K NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 476 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 ACAGAACAGCGAAACCTTCAA 0.567000 8 12 0 0 0.004482 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1815106 1815106 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:1815106C>T ENST00000250894.4 + 20 2527 c.2370C>T c.(2368-2370)gcC>gcT p.A790A MAPK8IP3_ENST00000356010.5_Silent_p.A784A NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 790 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 TCATCGACGCCAACCAGCCGG 0.632000 12 27 0 0 0.000978 0 0 OR4A47 403253 broad.mit.edu 37 11 48510680 48510680 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:48510680C>T ENST00000446524.1 + 1 412 c.336C>T c.(334-336)ctC>ctT p.L112L NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 AGGTCTTTCTCCTGTTGGTGA 0.458000 44 11 0 0 0.003214 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693262 187693262 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:187693262C>T ENST00000295131.2 - 9 1390 c.1351G>A c.(1351-1353)Gaa>Aaa p.E451K NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 451 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GTATTCAATTCATCAAAATTA 0.294000 10 25 0 0 0.000978 0 0 DNAH17 8632 broad.mit.edu 37 17 76526474 76526474 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:76526474G>A ENST00000389840.5 - 21 3359 c.3235C>T c.(3235-3237)Cgc>Tgc p.R1079C DNAH17_ENST00000585328.1_Missense_Mutation_p.R1076C dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AAGCCCCAGCGCCGGATTGTG 0.617000 5 42 0 0 0.001168 0 0 PCDH12 51294 broad.mit.edu 37 5 141334755 141334755 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:141334755C>T ENST00000231484.3 - 1 3872 c.2662G>A c.(2662-2664)Ggg>Agg p.G888R NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 888 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAGCCTCCCTGTGGGGCTG 0.647000 16 23 0 0 0.006122 0 0 PSG9 5678 broad.mit.edu 37 19 43762595 43762595 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:43762595G>A ENST00000244293.7 - 4 789 c.723C>T c.(721-723)ctC>ctT p.L241L PSG9_ENST00000593948.1_Silent_p.L241L|PSG9_ENST00000418820.2_Silent_p.L241L|PSG9_ENST00000596730.1_Silent_p.L148L|PSG9_ENST00000443718.3_Silent_p.L241L|PSG9_ENST00000270077.3_Silent_p.L334L|PSG9_ENST00000291752.5_Silent_p.L148L Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 239 female pregnancy extracellular region p.L334L(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AAATTCTGGGGAGGTCTGGAC 0.488000 52 153 0 0 0.003610 0 0 TPTE 7179 broad.mit.edu 37 21 10951333 10951333 + Missense_Mutation SNP G G A rs148393004 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:10951333G>A ENST00000298232.7 - 9 692 c.325C>T c.(325-327)Cgt>Tgt p.R109C TPTE_ENST00000361285.4_Missense_Mutation_p.R127C|TPTE_ENST00000342420.5_Missense_Mutation_p.R89C|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 127 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R109C(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATAGAACGATACTCCAAA 0.338000 22 61 0 0 0.001523 0 0 SEMA6B 10501 broad.mit.edu 37 19 4554460 4554460 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:4554460C>T ENST00000586582.1 - 9 1021 c.711G>A c.(709-711)tgG>tgA p.W237* SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.W237*|SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.W237* NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 237 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CATGGCTGCCCCACTCCACCG 0.557000 23 32 0 0 0.003954 0 0 SLC46A2 57864 broad.mit.edu 37 9 115652848 115652848 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:115652848C>T ENST00000374228.4 - 1 345 c.114G>A c.(112-114)gcG>gcA p.A38A NM_033051.3 NP_149040.3 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 38 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1) 18 GGAGTAGCCCCGCATCGTAGA 0.687000 18 34 0 0 0.001882 0 0 KIF3C 3797 broad.mit.edu 37 2 26204327 26204327 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:26204327G>A ENST00000264712.3 - 1 1039 c.460C>T c.(460-462)Cga>Tga p.R154* KIF3C_ENST00000405914.1_Nonsense_Mutation_p.R154* NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 154 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCAGGTCTCGAATCTCTTCC 0.557000 42 33 0 0 0.007835 0 0 KIF17 57576 broad.mit.edu 37 1 21009190 21009190 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:21009190C>T ENST00000247986.2 - 11 2729 c.2419G>A c.(2419-2421)Gaa>Aaa p.E807K KIF17_ENST00000375044.1_Missense_Mutation_p.E707K|KIF17_ENST00000400463.3_Missense_Mutation_p.E807K|KIF17_ENST00000490034.1_5'UTR Q9P2E2 KIF17_HUMAN kinesin family member 17 807 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) GCCCGCACTTCCTCCTGGATG 0.637000 13 31 0 0 0.002450 0 0 OR5B3 441608 broad.mit.edu 37 11 58170031 58170031 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:58170031G>A ENST00000309403.2 - 1 851 c.852C>T c.(850-852)aaC>aaT p.N284N NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGACCAGAGGGTTCAGCATGG 0.433000 32 74 0 0 0.002836 0 0 ZFP37 7539 broad.mit.edu 37 9 115811738 115811738 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:115811738C>T ENST00000374227.3 - 3 280 c.253G>A c.(253-255)Gaa>Aaa p.E85K ZFP37_ENST00000555206.1_Missense_Mutation_p.E86K|ZFP37_ENST00000553380.1_Missense_Mutation_p.E100K Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 85 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 TCTCCTTTTTCCAACTTGGAG 0.453000 5 11 0 0 0.001168 0 0 KCNH3 23416 broad.mit.edu 37 12 49934911 49934911 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:49934911G>A ENST00000257981.6 + 2 566 c.306G>A c.(304-306)aaG>aaA p.K102K KCNH3_ENST00000550434.1_3'UTR NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 102 PAC. regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 TGTACCGGAAGAGCGGTGAGG 0.612000 5 49 0 0 0.000602 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599532 136599532 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:136599532C>T ENST00000531224.1 - 4 739 c.487G>A c.(487-489)Gaa>Aaa p.E163K BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 163 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTTTGTTTTTCCTGAGACCCT 0.433000 33 175 0 0 0.003755 0 0 TRAV8-6 28680 broad.mit.edu 37 14 22447119 22447119 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22447119G>A ENST00000390443.3 + 0 320 CCCTGTCTTTGAAGAAGCCCC 0.478000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 113 0 0 0.003610 0 0 FN1 2335 broad.mit.edu 37 2 216293030 216293030 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:216293030G>A ENST00000354785.4 - 6 1086 c.717C>T c.(715-717)tcC>tcT p.S239S FN1_ENST00000356005.4_Silent_p.S239S|FN1_ENST00000359671.1_Silent_p.S239S|FN1_ENST00000336916.4_Silent_p.S239S|FN1_ENST00000323926.6_Silent_p.S239S|FN1_ENST00000346544.3_Silent_p.S239S|FN1_ENST00000426059.1_Silent_p.S239S|FN1_ENST00000421182.1_Silent_p.S239S|FN1_ENST00000345488.5_Silent_p.S239S|FN1_ENST00000357009.2_Silent_p.S239S|FN1_ENST00000357867.4_Silent_p.S239S|FN1_ENST00000443816.1_Silent_p.S239S|FN1_ENST00000446046.1_Silent_p.S239S|FN1_ENST00000432072.2_Silent_p.S239S P02751 FINC_HUMAN fibronectin 1 239 Fibrin- and heparin-binding 1.|Fibronectin type-I 5. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAATTCTATAGGATGTCCTTG 0.478000 17 31 0 0 0.001216 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303846 151303846 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:151303846G>A ENST00000370323.4 - 4 563 c.247C>T c.(247-249)Cct>Tct p.P83S RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P83S NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 83 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CTCTGGGGAGGATTTGGTGTC 0.542000 103 15 0 0 0.003610 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161024435 161024435 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:161024435C>T ENST00000368013.3 - 4 726 c.406G>A c.(406-408)Gaa>Aaa p.E136K ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E136K NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 136 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ACAGGGAGTTCCCGAAGCACC 0.522000 27 101 0 0 0.001786 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296553 39296553 + Missense_Mutation SNP G G A rs73983172 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:39296553G>A ENST00000345847.4 - 1 186 c.187C>T c.(187-189)Ccc>Tcc p.P63S NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 63 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 cagcagctgggacggcagcAG 0.667000 32 50 0 0 0.003755 0 0 SV2B 9899 broad.mit.edu 37 15 91811704 91811704 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:91811704G>A ENST00000394232.1 + 9 1712 c.1242G>A c.(1240-1242)atG>atA p.M414I SV2B_ENST00000330276.4_Missense_Mutation_p.M414I|SV2B_ENST00000545111.2_Missense_Mutation_p.M263I NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 414 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TTCCTGATATGATCCGCTATT 0.413000 254 325 0 0 0.003610 0 0 DZIP3 9666 broad.mit.edu 37 3 108409671 108409671 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:108409671C>T ENST00000361582.3 + 32 3784 c.3554C>T c.(3553-3555)cCa>cTa p.P1185L DZIP3_ENST00000463306.1_Missense_Mutation_p.P1185L NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 1185 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 GGGACATGTCCAACGTGCAGA 0.502000 26 69 0 0 0.002445 0 0 CPNE7 27132 broad.mit.edu 37 16 89661997 89661997 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:89661997C>T ENST00000268720.5 + 16 1880 c.1750C>T c.(1750-1752)Cgg>Tgg p.R584W CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Missense_Mutation_p.R509W NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 584 lipid metabolic process transporter activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) CGTGCCCTTCCGGGAGCTCAA 0.667000 16 34 0 0 0.004007 0 0 SLC22A17 51310 broad.mit.edu 37 14 23816342 23816342 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:23816342G>A ENST00000354772.3 - 9 1745 c.1242C>T c.(1240-1242)ctC>ctT p.L414L SLC22A17_ENST00000397260.3_Silent_p.L303L|SLC22A17_ENST00000397267.1_Silent_p.L432L|SLC22A17_ENST00000206544.8_Silent_p.L432L|SLC22A17_ENST00000474057.1_5'UTR NM_016609.3 NP_057693.3 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 432 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) CAGCAGCAAGGAGGGTGCTGA 0.657000 7 25 0 0 0.003080 0 0 GALK1 2584 broad.mit.edu 37 17 73758813 73758813 + Silent SNP G G A rs146095595 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:73758813G>A ENST00000588479.1 - 5 1339 c.765C>T c.(763-765)ctC>ctT p.L255L GALK1_ENST00000225614.2_Silent_p.L255L|GALK1_ENST00000437911.1_Silent_p.L285L P51570 GALK1_HUMAN galactokinase 1 255 galactose catabolic process cytosol ATP binding|galactokinase activity|galactose binding endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 5 all_cancers(13;1.5e-07) all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GTACCTCCCGGAGGCTTTCCT 0.637000 26 34 0 0 0.001512 0 0 MUC16 94025 broad.mit.edu 37 19 9074217 9074217 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9074217G>A ENST00000397910.4 - 3 13432 c.13229C>T c.(13228-13230)cCt>cTt p.P4410L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4412 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTCAAGTAAGGCATGGTTGA 0.473000 46 122 0 0 0.003610 0 0 RGS7 6000 broad.mit.edu 37 1 240975259 240975259 + Silent SNP G G A rs114051974 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:240975259G>A ENST00000366565.1 - 14 1422 c.1041C>T c.(1039-1041)ttC>ttT p.F347F RGS7_ENST00000366564.1_Silent_p.F347F|RGS7_ENST00000446183.2_Silent_p.F263F|RGS7_ENST00000348120.2_Silent_p.F294F|RGS7_ENST00000331110.7_Silent_p.F321F|RGS7_ENST00000407727.1_Silent_p.F347F|RGS7_ENST00000401882.1_Silent_p.F294F|RGS7_ENST00000366562.4_Silent_p.F347F|RGS7_ENST00000366563.1_Silent_p.F347F NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 347 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GAAATTTAAGGAACTGTTCTC 0.418000 23 72 0 0 0.002299 0 0 VIT 5212 broad.mit.edu 37 2 37035815 37035815 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:37035815C>T ENST00000379242.3 + 15 1892 c.1590C>T c.(1588-1590)ctC>ctT p.L530L VIT_ENST00000389975.3_Silent_p.L515L|VIT_ENST00000404084.1_Silent_p.L467L|VIT_ENST00000379241.3_Silent_p.L493L|VIT_ENST00000497382.1_Silent_p.L184L|VIT_ENST00000401530.1_Silent_p.L494L NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 515 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) GCACCGTCCTCCAGTTTGTGA 0.597000 10 30 0 0 0.000673 0 0 TLL1 7092 broad.mit.edu 37 4 166976255 166976255 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:166976255G>A ENST00000061240.2 + 13 2199 c.1552G>A c.(1552-1554)Gac>Aac p.D518N TLL1_ENST00000507499.1_Missense_Mutation_p.D541N NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 518 CUB 2. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTGTGCTTATGACTACCTGGA 0.343000 33 37 0 0 0.004878 0 0 NR5A1 2516 broad.mit.edu 37 9 127262369 127262369 + Splice_Site SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:127262369C>A ENST00000373588.4 - 4 1066 c.870_splice c.e4+1 p.E290_splice NM_004959.4 NP_004950.2 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 290 Important for dimerization.|Ligand-binding. cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 AGAGACTCACCTCCAGCTCCT 0.642000 12 34 2.31682e-05 3.7311e-05 0.003163 1 0 RBP3 5949 broad.mit.edu 37 10 48389674 48389674 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:48389674C>T ENST00000224600.4 - 1 1317 c.1204G>A c.(1204-1206)Gac>Aac p.D402N NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 402 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GCTGCAGCGTCGGGCGCGGGC 0.652000 16 39 0 0 0.004990 0 0 NLRP7 199713 broad.mit.edu 37 19 55439120 55439120 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55439120G>A ENST00000446217.1 - 12 3320 c.2918C>T c.(2917-2919)cCt>cTt p.P973L NLRP7_ENST00000448121.2_Missense_Mutation_p.P917L|NLRP7_ENST00000592784.1_Missense_Mutation_p.P945L|NLRP7_ENST00000590030.1_Intron|NLRP7_ENST00000588756.1_Missense_Mutation_p.P945L|NLRP7_ENST00000328092.5_Missense_Mutation_p.P917L|NLRP7_ENST00000340844.2_Intron Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 0 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) ACAATAGAAAGGCATGAGGGA 0.493000 47 66 0 0 0.003610 0 0 OR51E2 81285 broad.mit.edu 37 11 4703801 4703801 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:4703801G>A ENST00000396950.3 - 2 380 c.141C>T c.(139-141)atC>atT p.I47I NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CCGTCCTTACGATGAAGACCA 0.512000 12 37 0 0 0.001368 0 0 MYL6 4637 broad.mit.edu 37 12 56553498 56553498 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:56553498G>A ENST00000551589.1 + 3 192 c.159G>A c.(157-159)ggG>ggA p.G53G MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000348108.4_Silent_p.G54G|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000536128.1_Silent_p.G146G|MYL6_ENST00000548293.1_Silent_p.G53G|MYL6_ENST00000547408.1_Silent_p.G53G|MYL6_ENST00000550697.1_Silent_p.G53G|MYL6_ENST00000547649.1_Silent_p.G53G|MYL6_ENST00000293422.5_Silent_p.G54G P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 53 axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) AGGTCCTGGGGAACCCCAAGA 0.562000 34 10 0 0 0.003755 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43947864 43947864 + Nonsense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:43947864T>A ENST00000282406.4 + 16 2627 c.2517T>A c.(2515-2517)taT>taA p.Y839* NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 839 PH 2. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGACATTATATTATTTTCGGA 0.318000 327 245 0 0 0.003610 0 0 IDH3A 3419 broad.mit.edu 37 15 78458576 78458576 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:78458576C>T ENST00000299518.2 + 10 1032 c.949C>T c.(949-951)Cac>Tac p.H317Y IDH3A_ENST00000441490.2_Missense_Mutation_p.H208Y|IDH3A_ENST00000559205.1_Missense_Mutation_p.H38Y|IDH3A_ENST00000558554.1_Missense_Mutation_p.H282Y|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000561366.1_3'UTR NM_005530.2 NP_005521.1 P50213 IDH3A_HUMAN isocitrate dehydrogenase 3 (NAD+) alpha 317 carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 12 NADH(DB00157) GATGCTGCGCCACATGGGACT 0.507000 93 125 0 0 0.003610 0 0 TACC2 10579 broad.mit.edu 37 10 123845315 123845315 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:123845315G>A ENST00000369005.1 + 4 3640 c.3300G>A c.(3298-3300)atG>atA p.M1100I TACC2_ENST00000453444.2_Missense_Mutation_p.M1100I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.M1100I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.M1100I|TACC2_ENST00000515603.1_Missense_Mutation_p.M1100I NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1100 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGCAGAAAATGGAGTGCTGGG 0.617000 27 18 0 0 0.001786 0 0 LEPR 3953 broad.mit.edu 37 1 66102367 66102367 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:66102367G>A ENST00000349533.6 + 20 3352 c.3167G>A c.(3166-3168)gGa>gAa p.G1056E LEPR_ENST00000406510.3_Missense_Mutation_p.G123E NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1056 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTCTCAGAAGGATTGGATGAA 0.363000 42 80 0 0 0.003610 0 0 SPOCD1 90853 broad.mit.edu 37 1 32280373 32280373 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:32280373C>T ENST00000360482.2 - 2 691 c.562G>A c.(562-564)Gag>Aag p.E188K SPOCD1_ENST00000373648.2_Missense_Mutation_p.E188K|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E188K NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 188 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCAGGGGGCTCCTCTTTGCTG 0.592000 16 30 0 0 0.004990 0 0 LAMA1 284217 broad.mit.edu 37 18 6983119 6983119 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:6983119C>T ENST00000389658.3 - 40 5868 c.5775G>A c.(5773-5775)agG>agA p.R1925R NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1925 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGTCACAGTCCTGTGAGCAT 0.512000 36 9 0 0 0.001951 0 0 SLC38A1 81539 broad.mit.edu 37 12 46598346 46598346 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:46598346G>A ENST00000398637.5 - 10 1368 c.674C>T c.(673-675)tCc>tTc p.S225F SLC38A1_ENST00000549049.1_Missense_Mutation_p.S225F|SLC38A1_ENST00000552197.1_Missense_Mutation_p.S225F|SLC38A1_ENST00000439706.1_Missense_Mutation_p.S225F|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Missense_Mutation_p.S225F NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 225 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) ACAGCTCAAGGAAAATCCACT 0.294000 34 166 0 0 0.006230 0 0 GABRA2 2555 broad.mit.edu 37 4 46252555 46252555 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:46252555G>A ENST00000510861.1 - 10 1299 c.1126C>T c.(1126-1128)Ccg>Tcg p.P376S GABRA2_ENST00000540012.1_Missense_Mutation_p.P381S|GABRA2_ENST00000381620.4_Missense_Mutation_p.P376S|GABRA2_ENST00000514090.1_Missense_Mutation_p.P376S|GABRA2_ENST00000356504.1_Missense_Mutation_p.P376S|GABRA2_ENST00000507069.1_Missense_Mutation_p.P436S P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 376 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GAAAGATTCGGGGCATAATTG 0.423000 26 63 0 0 0.003330 0 0 IL13RA2 3598 broad.mit.edu 37 X 114245314 114245314 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:114245314G>A ENST00000371936.1 - 7 848 c.599C>T c.(598-600)cCc>cTc p.P200L IL13RA2_ENST00000243213.1_Missense_Mutation_p.P200L Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 200 Fibronectin type-III 2. extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 CTCCAAATAGGGAAATCTGCA 0.368000 41 6 0 0 0.006230 0 0 MLH3 27030 broad.mit.edu 37 14 75514786 75514786 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:75514786G>A ENST00000355774.2 - 2 1788 c.1573C>T c.(1573-1575)Cta>Tta p.L525L MLH3_ENST00000556257.1_Silent_p.L525L|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Silent_p.L525L|MLH3_ENST00000556740.1_Silent_p.L525L NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 525 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) CATATTTCTAGATCCTGCCCA 0.378000 Mismatch excision repair (MMR) 46 6 0 0 0.003610 0 0 MCC 4163 broad.mit.edu 37 5 112419847 112419847 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:112419847G>A ENST00000302475.4 - 8 1579 c.1016C>T c.(1015-1017)tCg>tTg p.S339L MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.S529L|MCC_ENST00000515367.2_Missense_Mutation_p.S276L NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 339 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) AGATGATGACGATTCGGACCT 0.443000 24 111 0 0 0.004656 0 0 COL15A1 1306 broad.mit.edu 37 9 101787237 101787237 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:101787237G>A ENST00000375001.3 + 15 2359 c.1936G>A c.(1936-1938)Gga>Aga p.G646R NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 646 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GGGACCCCCTGGATCTCCTGG 0.572000 11 27 0 0 0.001368 0 0 GALNT5 11227 broad.mit.edu 37 2 158157239 158157239 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:158157239C>T ENST00000259056.4 + 7 2652 c.2167C>T c.(2167-2169)Cat>Tat p.H723Y NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 723 Catalytic subdomain B. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 CCGAGTGGGCCATATATTCAG 0.458000 28 56 0 0 0.002096 0 0 PLCL1 5334 broad.mit.edu 37 2 198950925 198950925 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:198950925G>A ENST00000428675.1 + 2 3082 c.2684G>A c.(2683-2685)cGa>cAa p.R895Q PLCL1_ENST00000437704.2_Missense_Mutation_p.R797Q NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 895 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CATCCATTACGAGAAGCCATA 0.388000 9 8 0 0 0.000673 0 0 ANKRD28 23243 broad.mit.edu 37 3 15720984 15720984 + Splice_Site SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:15720984C>A ENST00000399451.2 - 22 2753 c.2387_splice c.e22+1 p.V796_splice ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Splice_Site_p.V829_splice NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 796 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 TTTACTTACACGGCACAATGC 0.378000 18 36 5.03518e-11 8.17007e-11 0.007413 1 0 CCT6P1 643253 broad.mit.edu 37 7 65228327 65228327 + RNA SNP G G C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:65228327G>C ENST00000442266.1 + 0 1301 AATCTTCTCTGAAAGGTTGAA 0.413000 14 157 0 0 0.002450 0 0 RBP3 5949 broad.mit.edu 37 10 48389873 48389873 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:48389873C>T ENST00000224600.4 - 1 1118 c.1005G>A c.(1003-1005)gaG>gaA p.E335E NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 335 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CCTTCAGGACCTCCTGGAGGC 0.647000 8 17 0 0 0.003080 0 0 OR2T34 127068 broad.mit.edu 37 1 248737528 248737528 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248737528C>T ENST00000328782.2 - 1 552 c.531G>A c.(529-531)agG>agA p.R177R NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCAGGATTTTCCTAGACTGGC 0.527000 52 32 0 0 0.003610 0 0 COL5A3 50509 broad.mit.edu 37 19 10071421 10071421 + Missense_Mutation SNP C C T rs141508267 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:10071421C>T ENST00000264828.3 - 66 5082 c.4997G>A c.(4996-4998)aGc>aAc p.S1666N NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1666 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGCGGAGTGGCTGTAGTCACC 0.597000 11 47 0 0 0.000673 0 0 LILRA2 11027 broad.mit.edu 37 19 55086387 55086387 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55086387C>T ENST00000251377.3 + 5 675 c.542C>T c.(541-543)tCc>tTc p.S181F LILRA2_ENST00000251376.3_Missense_Mutation_p.S181F|LILRA2_ENST00000391737.1_Missense_Mutation_p.S169F|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S181F|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GCCATCTTCTCCGTGGGCCCC 0.567000 56 91 0 0 0.003610 0 0 ABHD8 79575 broad.mit.edu 37 19 17411956 17411956 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:17411956G>A ENST00000247706.3 - 2 709 c.470C>T c.(469-471)aCc>aTc p.T157I MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 157 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 AATATGGATGGTCCTCTTGGG 0.687000 39 29 0 0 0.006230 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36125019 36125019 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:36125019G>A ENST00000258840.6 - 29 4503 c.4113C>T c.(4111-4113)tcC>tcT p.S1371S RALGAPA1_ENST00000389698.3_Silent_p.S1324S|RALGAPA1_ENST00000382366.3_Silent_p.S1337S|RALGAPA1_ENST00000307138.6_Silent_p.S1324S Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1324 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTACCTTTAAGGAAACACAAA 0.308000 27 104 0 0 0.001786 0 0 PCDHA9 9752 broad.mit.edu 37 5 140362134 140362134 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140362134C>T ENST00000532602.1 + 3 3561 c.2528C>T c.(2527-2529)tCc>tTc p.S843F PCDHA2_ENST00000526136.1_Missense_Mutation_p.S841F|PCDHA5_ENST00000529859.1_Missense_Mutation_p.S829F|PCDHA4_ENST00000530339.1_Missense_Mutation_p.S840F|PCDHA10_ENST00000307360.5_Missense_Mutation_p.S841F|PCDHA1_ENST00000394633.3_Missense_Mutation_p.S579F|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S829F|PCDHA8_ENST00000531613.1_Missense_Mutation_p.S843F|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.S900F|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S840F|PCDHA11_ENST00000398640.2_Missense_Mutation_p.S842F|PCDHA6_ENST00000529310.1_Missense_Mutation_p.S843F|PCDHA13_ENST00000289272.2_Missense_Mutation_p.S843F|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S579F|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S843F|PCDHA3_ENST00000522353.2_Missense_Mutation_p.S843F|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S578F|PCDHA12_ENST00000398631.2_Missense_Mutation_p.S834F|PCDHA1_ENST00000504120.2_Missense_Mutation_p.S843F|PCDHA7_ENST00000525929.1_Missense_Mutation_p.S830F|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.S856F NM_031857.1 NP_114063.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAACAGTATCCAGTGCAACA 0.493000 8 41 0 0 0.004482 0 0 GNAS 2778 broad.mit.edu 37 20 57415767 57415767 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:57415767G>A ENST00000313949.7 + 1 995 c.606G>A c.(604-606)agG>agA p.R202R GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.R202R|GNAS_ENST00000371098.2_Silent_p.R202R|GNAS-AS1_ENST00000443966.1_RNA P63092 GNAS2_HUMAN GNAS complex locus 326 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) AAGATCCAAGGGACCCCGAAG 0.682000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 5 23 0 0 0.000602 0 0 OR2T2 401992 broad.mit.edu 37 1 248616175 248616175 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248616175G>A ENST00000342927.3 + 1 99 c.77G>A c.(76-78)gGg>gAg p.G26E NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCTTCCCCGGGCTTCTCTTT 0.542000 31 278 0 0 0.004878 0 0 CCDC147 159686 broad.mit.edu 37 10 106160635 106160635 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:106160635G>A ENST00000369704.3 + 13 2147 c.2013G>A c.(2011-2013)agG>agA p.R671R NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 671 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TTCTTGCCAGGAGTATGGCTA 0.473000 30 26 0 0 0.002836 0 0 PGM3 5238 broad.mit.edu 37 6 83896745 83896745 + Missense_Mutation SNP G G T rs142142489 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:83896745G>T ENST00000513973.1 - 4 555 c.439C>A c.(439-441)Cta>Ata p.L147I PGM3_ENST00000506587.1_Missense_Mutation_p.L175I|PGM3_ENST00000512866.1_Missense_Mutation_p.L147I|PGM3_ENST00000283977.4_Missense_Mutation_p.L66I NM_001199918.1|NM_015599.2 NP_001186847.1|NP_056414.1 O95394 AGM1_HUMAN phosphoglucomutase 3 147 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) TGACCTCCTAGAACAGTCACA 0.323000 39 8 2.37825e-27 3.88257e-27 0.002522 1 0 CD22 933 broad.mit.edu 37 19 35835957 35835957 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:35835957G>A ENST00000085219.5 + 11 2202 c.2136G>A c.(2134-2136)tgG>tgA p.W712* CD22_ENST00000270311.6_Intron|CD22_ENST00000341773.6_Nonsense_Mutation_p.W535*|CD22_ENST00000536635.2_Nonsense_Mutation_p.W624*|CD22_ENST00000419549.2_Nonsense_Mutation_p.W540*|CD22_ENST00000594250.1_Nonsense_Mutation_p.W535*|CD22_ENST00000544992.2_Nonsense_Mutation_p.W712* NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 712 cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TTCTCAGTTGGAAGAGGACAC 0.557000 35 90 0 0 0.003214 0 0 SPIN4 139886 broad.mit.edu 37 X 62570692 62570692 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:62570692G>A ENST00000335144.3 - 1 526 c.7C>T c.(7-9)Cct>Tct p.P3S SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_5'UTR NM_001012968.2 NP_001012986.2 Q56A73 SPIN4_HUMAN spindlin family, member 4 3 gamete generation endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 11 ACGGTTGGAGGAGACATAGCT 0.493000 30 3 0 0 0.003271 0 0 STS 412 broad.mit.edu 37 X 7177712 7177712 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:7177712G>A ENST00000217961.4 + 5 940 c.720G>A c.(718-720)ctG>ctA p.L240L NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 240 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) TCCGGCCCCTGAACTGCTTCA 0.527000 Ichthyosis 29 26 0 0 0.005443 0 0 PTPN22 26191 broad.mit.edu 37 1 114401651 114401651 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:114401651G>A ENST00000359785.5 - 3 381 c.246C>T c.(244-246)tcC>tcT p.S82S PTPN22_ENST00000460620.1_Silent_p.S82S|PTPN22_ENST00000525799.1_Silent_p.S82S|PTPN22_ENST00000528414.1_Silent_p.S82S|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000420377.2_Silent_p.S82S|PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 82 Tyrosine-protein phosphatase. negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGATGTAGCTGGAATCCTCAT 0.398000 15 22 0 0 0.004007 0 0 CSMD3 114788 broad.mit.edu 37 8 113318320 113318320 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:113318320G>A ENST00000297405.5 - 51 8231 c.7987C>T c.(7987-7989)Cga>Tga p.R2663* CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2593*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R2559*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2623* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2663 Sushi 15. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GATGACAATCGATATCCATCA 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 38 35 0 0 0.007835 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202248 140202248 + Silent SNP T T G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140202248T>G ENST00000529859.1 + 1 888 c.888T>G c.(886-888)tcT>tcG p.S296S PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S296S|PCDHA5_ENST00000529619.1_Silent_p.S296S|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAATTAATTCTAATACTGGTG 0.313000 8 26 0 0 0.006214 0 0 PAPL 390928 broad.mit.edu 37 19 39600743 39600743 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:39600743G>A ENST00000331256.5 + 13 1576 c.1302G>A c.(1300-1302)cgG>cgA p.R434R PAPL_ENST00000594229.1_3'UTR NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 434 extracellular region acid phosphatase activity|metal ion binding TGTTTGGCCGGAGGATGTACC 0.567000 OREG0025457 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 81 0 0 0.002836 0 0 RNF175 285533 broad.mit.edu 37 4 154649477 154649477 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:154649477A>T ENST00000347063.4 - 4 655 c.283T>A c.(283-285)Tat>Aat p.Y95N RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron NM_173662.2 NP_775933.1 Q8N4F7 RN175_HUMAN ring finger protein 175 95 integral to membrane zinc ion binding breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 13 all_hematologic(180;0.093) Renal(120;0.118) ATCGTGAAATATAAGGGGACA 0.448000 64 46 0 0 0.003610 0 0 SCFD1 23256 broad.mit.edu 37 14 31191097 31191097 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:31191097C>T ENST00000458591.2 + 22 1971 c.1744C>T c.(1744-1746)Ccc>Tcc p.P582S SCFD1_ENST00000541123.1_Missense_Mutation_p.P397S|SCFD1_ENST00000544052.2_Missense_Mutation_p.P515S|SCFD1_ENST00000421551.3_Missense_Mutation_p.P523S|SCFD1_ENST00000396629.2_Missense_Mutation_p.P490S NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 582 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) CAGCTCAGTTCCCAGAAATAA 0.338000 35 66 0 0 0.006999 0 0 MUC21 394263 broad.mit.edu 37 6 30951752 30951752 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:30951752G>A ENST00000376296.3 + 1 258 c.17G>A c.(16-18)gGa>gAa p.G6E MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 6 integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ATGCAGAAAGGAAATGTTCTC 0.428000 25 82 0 0 0.001512 0 0 DLG4 1742 broad.mit.edu 37 17 7107049 7107049 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7107049G>A ENST00000399510.2 - 7 1278 c.426C>T c.(424-426)atC>atT p.I142I DLG4_ENST00000302955.6_Silent_p.I96I|DLG4_ENST00000399506.2_Silent_p.I99I|DLG4_ENST00000485100.1_Silent_p.I96I NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 99 PDZ 1. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 CACCAGGAATGATCTTGGTGA 0.617000 16 51 0 0 0.007413 0 0 ZNF630 57232 broad.mit.edu 37 X 47918760 47918760 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:47918760G>A ENST00000276054.4 - 5 1633 c.699C>T c.(697-699)tcC>tcT p.S233S ZNF630_ENST00000442455.3_Silent_p.S343S|ZNF630_ENST00000409324.3_Silent_p.S357S|ZNF630-AS1_ENST00000436124.1_RNA Q2M218 ZN630_HUMAN zinc finger protein 630 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 GTGACTTCTGGGAGAAAGCTT 0.438000 16 11 0 0 0.003163 0 0 CALN1 83698 broad.mit.edu 37 7 71743780 71743780 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:71743780G>A ENST00000395275.2 - 3 523 c.135C>T c.(133-135)ttC>ttT p.F45F CALN1_ENST00000405452.2_Silent_p.F3F|CALN1_ENST00000395276.2_Silent_p.F3F|CALN1_ENST00000329008.5_Silent_p.F3F|CALN1_ENST00000412588.1_Silent_p.F45F|CALN1_ENST00000431984.1_Silent_p.F3F NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 3 EF-hand 1. Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TCACATGGTGGAACGGCATCT 0.498000 12 38 0 0 0.001855 0 0 PCSK9 255738 broad.mit.edu 37 1 55525299 55525299 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:55525299C>T ENST00000302118.5 + 10 1934 c.1644C>T c.(1642-1644)acC>acT p.T548T PCSK9_ENST00000543384.1_3'UTR|PCSK9_ENST00000490692.1_Intron NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 548 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GCATGGGGACCCGTGTCCACT 0.647000 42 55 0 0 0.001951 0 0 OTOP3 347741 broad.mit.edu 37 17 72945387 72945387 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:72945387G>A ENST00000328801.4 + 7 1667 c.1667G>A c.(1666-1668)gGg>gAg p.G556E NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 556 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) TTTGAGAACGGGCTAGAAAAG 0.567000 25 90 0 0 0.001512 0 0 TRIP13 9319 broad.mit.edu 37 5 911963 911963 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:911963C>T ENST00000166345.3 + 10 1228 c.872C>T c.(871-873)tCc>tTc p.S291F NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 291 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) AACAGGCATTCCAATGTTGTG 0.542000 6 34 0 0 0.003080 0 0 CATSPERB 79820 broad.mit.edu 37 14 92185775 92185775 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:92185775G>A ENST00000256343.3 - 5 513 c.357C>T c.(355-357)atC>atT p.I119I NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 119 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TGCTTTGTGTGATGTTTTCTC 0.313000 14 22 0 0 0.001216 0 0 GIPR 2696 broad.mit.edu 37 19 46176157 46176157 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:46176157G>A ENST00000590918.1 + 5 428 c.329G>A c.(328-330)gGa>gAa p.G110E GIPR_ENST00000304207.8_Missense_Mutation_p.G74E|GIPR_ENST00000263281.3_Missense_Mutation_p.G110E NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 110 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) GGCCAATGGGGACTTTGGAGA 0.507000 16 49 0 0 0.006122 0 0 DNAAF1 123872 broad.mit.edu 37 16 84211377 84211377 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:84211377G>A ENST00000378553.5 + 12 2232 c.2108G>A c.(2107-2109)gGa>gAa p.G703E DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 703 G -> R (in dbSNP:rs4150188). axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 ACGTGTGTCGGAGTTGCCCAG 0.572000 30 65 0 0 0.002836 0 0 EYA1 2138 broad.mit.edu 37 8 72127689 72127689 + Silent SNP C C T rs147434089 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:72127689C>T ENST00000340726.3 - 16 2169 c.1530G>A c.(1528-1530)gcG>gcA p.A510A EYA1_ENST00000388741.2_Silent_p.A476A|EYA1_ENST00000388740.3_Silent_p.A477A|EYA1_ENST00000303824.7_Silent_p.A504A|EYA1_ENST00000388742.4_Silent_p.A510A|EYA1_ENST00000388743.2_Silent_p.A509A|EYA1_ENST00000419131.1_Silent_p.A475A NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 510 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GCAGGACTTTCGCCAATGCTG 0.338000 46 49 0 0 0.003610 0 0 LRRK2 120892 broad.mit.edu 37 12 40699676 40699676 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:40699676G>A ENST00000298910.7 + 28 3925 c.3867G>A c.(3865-3867)ggG>ggA p.G1289G NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1289 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATGAAATGGGGAAATTAAGCA 0.358000 15 20 0 0 0.004990 0 0 PCSK5 5125 broad.mit.edu 37 9 78638703 78638703 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:78638703G>A ENST00000545128.1 + 4 999 c.461G>A c.(460-462)gGa>gAa p.G154E PCSK5_ENST00000376767.3_Missense_Mutation_p.G154E|PCSK5_ENST00000376752.4_Missense_Mutation_p.G154E NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 154 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 AATATCGAAGGAGCCTGGAAG 0.453000 22 32 0 0 0.003954 0 0 MYPOP 339344 broad.mit.edu 37 19 46393885 46393885 + Missense_Mutation SNP G G A rs147675790 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:46393885G>A ENST00000322217.5 - 3 1282 c.1196C>T c.(1195-1197)cCg>cTg p.P399L NM_001012643.2 NP_001012661.1 Q86VE0 MYPOP_HUMAN Myb-related transcription factor, partner of profilin 399 nucleus DNA binding large_intestine(2)|lung(1)|skin(1) 4 TAGATTTCACGGAGATTTCCA 0.642000 19 41 0 0 0.001523 0 0 KRT18 3875 broad.mit.edu 37 12 53345998 53345998 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:53345998G>A ENST00000550600.1 + 7 1098 c.1044G>A c.(1042-1044)gaG>gaA p.E348E KRT18_ENST00000388837.2_Silent_p.E348E|KRT18_ENST00000388835.3_Silent_p.E348E P05783 K1C18_HUMAN keratin 18 348 Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 TTGAGTCAGAGCTGGCACAGA 0.632000 4 5 0 0 0.000248 0 0 RLIM 51132 broad.mit.edu 37 X 73814155 73814155 + Nonsense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:73814155G>T ENST00000332687.6 - 3 457 c.239C>A c.(238-240)tCa>tAa p.S80* RLIM_ENST00000349225.2_Nonsense_Mutation_p.S80* NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 80 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATTTTCATCTGAGTTTTGCGG 0.423000 33 4 1.58521e-26 2.58663e-26 0.005524 1 0 CXorf21 80231 broad.mit.edu 37 X 30578126 30578126 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:30578126G>A ENST00000378962.3 - 3 669 c.347C>T c.(346-348)tCt>tTt p.S116F NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 116 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 ACTTTTGCAAGAAGATGGAAC 0.443000 40 43 0 0 0.006999 0 0 TTN 7273 broad.mit.edu 37 2 179639012 179639012 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179639012C>T ENST00000589042.1 - 30 7203 c.6979G>A c.(6979-6981)Gat>Aat p.D2327N TTN_ENST00000460472.2_Missense_Mutation_p.D2281N|TTN_ENST00000342175.6_Missense_Mutation_p.D2281N|TTN_ENST00000360870.5_Missense_Mutation_p.D2327N|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D2327N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D2281N|TTN_ENST00000342992.6_Missense_Mutation_p.D2327N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2044 Ig-like 12. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGGTTACATCCTTGACCGTG 0.408000 29 42 0 0 0.006320 0 0 ZNF44 51710 broad.mit.edu 37 19 12361119 12361119 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:12361119G>A ENST00000426973.1 - 2 97 c.98C>T c.(97-99)cCt>cTt p.P33L P15621 ZNF44_HUMAN zinc finger protein 44 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TTTCTGTGAAGGATCCAGCAA 0.418000 25 17 0 0 0.004656 0 0 MAP3K13 9175 broad.mit.edu 37 3 185190873 185190873 + Missense_Mutation SNP G G A rs144909413 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:185190873G>A ENST00000265026.3 + 11 2088 c.1754G>A c.(1753-1755)cGa>cAa p.R585Q MAP3K13_ENST00000446828.1_Missense_Mutation_p.R378Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R441Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R585Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R441Q NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 585 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AGCCGATATCGAAGCAAACCA 0.542000 58 167 0 0 0.003610 0 0 ADH4 127 broad.mit.edu 37 4 100063856 100063856 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:100063856G>A ENST00000508393.1 - 3 316 c.151C>T c.(151-153)Ccc>Tcc p.P51S RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.P51S|ADH4_ENST00000423445.1_Missense_Mutation_p.P51S|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000265512.7_Missense_Mutation_p.P32S P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 32 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) TGAGCCTTGGGGGGAGCTACT 0.507000 14 10 0 0 0.004990 0 0 SIRPB1 10326 broad.mit.edu 37 20 1584658 1584658 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:1584658C>T ENST00000279477.7 - 4 946 c.882G>A c.(880-882)agG>agA p.R294R SIRPB1_ENST00000568365.1_Silent_p.R294R|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 294 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCGTTTCTGTCCTGGACACGT 0.532000 24 11 0 0 0.004656 0 0 DPYD 1806 broad.mit.edu 37 1 97564164 97564164 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:97564164G>A ENST00000370192.3 - 21 2747 c.2647C>T c.(2647-2649)Ctg>Ttg p.L883L DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 883 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CGCTGTTCCAGATAAGGTCCA 0.338000 9 15 0 0 0.006214 0 0 MYO10 4651 broad.mit.edu 37 5 16680099 16680099 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:16680099G>A ENST00000513610.1 - 33 4953 c.4499C>T c.(4498-4500)gCc>gTc p.A1500V MYO10_ENST00000515803.1_Missense_Mutation_p.A839V|MYO10_ENST00000274203.9_Missense_Mutation_p.A857V|MYO10_ENST00000427430.2_Missense_Mutation_p.A857V|MYO10_ENST00000505695.1_Missense_Mutation_p.A839V NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1500 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GTCGATCGGGGCCTTGGTGTC 0.552000 7 21 0 0 0.004482 0 0 ITGAD 3681 broad.mit.edu 37 16 31435806 31435806 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:31435806G>A ENST00000389202.2 + 29 3329 c.3280G>A c.(3280-3282)Gaa>Aaa p.E1094K NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 1094 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity p.E1094K(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGTGCTAGAAGAAGACGAGGT 0.542000 10 39 0 0 0.000673 0 0 SLC4A10 57282 broad.mit.edu 37 2 162751222 162751222 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:162751222C>T ENST00000375514.5 + 11 1458 c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C SLC4A10_ENST00000415876.2_Missense_Mutation_p.R380C|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R380C|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R410C|SLC4A10_ENST00000446997.1_Missense_Mutation_p.R410C|SLC4A10_ENST00000535165.1_Silent_p.I380I NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 410 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity p.R380C(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGCTAAAGATCGTAATGACTT 0.328000 12 21 0 0 0.000978 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963128 88963128 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:88963128G>A ENST00000333190.4 + 4 1441 c.832G>A c.(832-834)Gaa>Aaa p.E278K NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 278 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CCTTACCAAGGAAAAAGAGGT 0.358000 HNSCC(36;0.09) 10 61 0 0 0.000673 0 0 SEC24A 10802 broad.mit.edu 37 5 134007571 134007571 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:134007571T>C ENST00000398844.2 + 4 1100 c.812T>C c.(811-813)tTa>tCa p.L271S SEC24A_ENST00000322887.4_Missense_Mutation_p.L271S NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 271 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGAGGTGGCTTATTGGGTGAG 0.328000 6 52 0 0 0.001984 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42279477 42279477 + Missense_Mutation SNP C C T rs146301749 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:42279477C>T ENST00000399518.3 - 17 2414 c.1928G>A c.(1927-1929)cGa>cAa p.R643Q PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R614Q|CTD-2382E5.1_ENST00000499478.2_RNA NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 631 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) AAGGATTTCTCGGAAAGAATT 0.527000 18 20 0 0 0.006122 0 0 HCN1 348980 broad.mit.edu 37 5 45262581 45262581 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:45262581G>A ENST00000303230.4 - 8 2172 c.2115C>T c.(2113-2115)agC>agT p.S705S NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 705 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GTACAGGAGGGCTGCAGACCG 0.642000 31 10 0 0 0.002836 0 0 FGGY 55277 broad.mit.edu 37 1 59844482 59844482 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:59844482C>T ENST00000371218.4 + 5 711 c.527C>T c.(526-528)tCg>tTg p.S176L FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Missense_Mutation_p.S176L|FGGY_ENST00000371212.1_Missense_Mutation_p.S88L NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 176 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) GACTTCTTATCGTGGAAGGCA 0.393000 10 25 0 0 0.001368 0 0 MYO1G 64005 broad.mit.edu 37 7 45009048 45009048 + Missense_Mutation SNP C C T rs141469545 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:45009048C>T ENST00000258787.7 - 12 1674 c.1538G>A c.(1537-1539)cGa>cAa p.R513Q NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 513 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 CCGGAAGTCTCGGCCAAACTC 0.582000 49 146 0 0 0.003610 0 0 SCAMP4 113178 broad.mit.edu 37 19 1917763 1917763 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:1917763C>T ENST00000316097.8 + 3 345 c.78C>T c.(76-78)tcC>tcT p.S26S SCAMP4_ENST00000409472.1_Silent_p.S26S|SCAMP4_ENST00000414057.2_3'UTR NM_079834.2 NP_524558.1 Q969E2 SCAM4_HUMAN secretory carrier membrane protein 4 26 protein transport integral to membrane Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAACTTCTCCGACGAGATCC 0.597000 12 26 0 0 0.000978 0 0 CT47B1 643311 broad.mit.edu 37 X 120008958 120008958 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:120008958C>T ENST00000371311.3 - 1 821 c.567G>A c.(565-567)ctG>ctA p.L189L NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 189 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CCTCCTGGATCAGGCCGAGGC 0.716000 21 23 0 0 0.001523 0 0 TNFRSF8 943 broad.mit.edu 37 1 12198328 12198328 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:12198328G>A ENST00000263932.2 + 14 1600 c.1378G>A c.(1378-1380)Gag>Aag p.E460K TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000479933.2_Intron|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.E348K NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 460 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) CGTCGCGGAAGAGCGAGGGTT 0.672000 12 24 0 0 0.004007 0 0 ANK3 288 broad.mit.edu 37 10 62149192 62149192 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:62149192C>T ENST00000280772.1 - 1 296 c.105G>A c.(103-105)cgG>cgA p.R35R ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 35 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CCTTTTTCTTCCGATCCCGGG 0.398000 31 55 0 0 0.003271 0 0 MED13L 23389 broad.mit.edu 37 12 116429486 116429486 + Silent SNP G G A rs145072799 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:116429486G>A ENST00000281928.3 - 17 3479 c.3273C>T c.(3271-3273)ccC>ccT p.P1091P NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1091 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CAGAGTTGAGGGGCCGTGTAG 0.547000 8 9 0 0 0.004482 0 0 RIMS2 9699 broad.mit.edu 37 8 105026827 105026827 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:105026827G>A ENST00000507740.1 + 17 2996 c.2760G>A c.(2758-2760)aaG>aaA p.K920K RIMS2_ENST00000262231.10_Silent_p.K945K|RIMS2_ENST00000406091.3_Silent_p.K1106K|RIMS2_ENST00000436393.2_Silent_p.K846K NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1168 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TTCCACCAAAGGGAACGTTGG 0.438000 HNSCC(12;0.0054) 30 26 0 0 0.003755 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334086 37334086 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:37334086C>T ENST00000262825.5 + 14 2471 c.2254C>T c.(2254-2256)Cct>Tct p.P752S CSF2RB_ENST00000406230.1_Missense_Mutation_p.P752S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P693S|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P746S NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 746 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CAGCTTATGTCCTGGGCTGGC 0.637000 22 97 0 0 0.001882 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140616219 140616219 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140616219C>T ENST00000526308.1 + 0 2282 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GCCTCGGTGTCGTCGCTCTTC 0.687000 30 157 0 0 0.002836 0 0 STAB1 23166 broad.mit.edu 37 3 52542337 52542337 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:52542337C>T ENST00000321725.6 + 21 2273 c.2197C>T c.(2197-2199)Cct>Tct p.P733S NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 733 EGF-like 5. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CACGCAGTGTCCTGGGGGCTT 0.572000 17 64 0 0 0.007413 0 0 CAD 790 broad.mit.edu 37 2 27456983 27456983 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:27456983C>T ENST00000264705.4 + 22 3669 c.3507C>T c.(3505-3507)acC>acT p.T1169T CAD_ENST00000403525.1_Silent_p.T1106T NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1169 ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CGCTGGTGACCCCCCCACAAG 0.577000 17 33 0 0 0.004007 0 0 TEX15 56154 broad.mit.edu 37 8 30694351 30694351 + Missense_Mutation SNP C C T rs112222282 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:30694351C>T ENST00000256246.2 - 3 8374 c.8300G>A c.(8299-8301)cGa>cAa p.R2767Q NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2767 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGGCACAAATCGATTAGGAAG 0.378000 14 33 0 0 0.004007 0 0 TRAF2 7186 broad.mit.edu 37 9 139820209 139820209 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:139820209C>T ENST00000359662.3 + 11 1563 c.1518C>T c.(1516-1518)tcC>tcT p.S506S TRAF2_ENST00000247668.2_Silent_p.S454S|TRAF2_ENST00000536468.1_Silent_p.S454S Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 454 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) TGACTTCATCCTCTTTTCAGA 0.587000 22 35 0 0 0.004656 0 0 BCL9L 283149 broad.mit.edu 37 11 118769743 118769743 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:118769743G>A ENST00000334801.3 - 8 4845 c.3881C>T c.(3880-3882)cCa>cTa p.P1294L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1294 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CACACCCGGTGGGTATGCGTC 0.687000 7 2 0 0 0.003080 0 0 KRT37 8688 broad.mit.edu 37 17 39578669 39578669 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:39578669C>T ENST00000225550.3 - 4 749 c.750G>A c.(748-750)agG>agA p.R250R AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 250 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CCAGCTGACTCCTCAGAATCT 0.567000 45 132 0 0 0.003610 0 0 RDH14 57665 broad.mit.edu 37 2 18736664 18736664 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:18736664G>A ENST00000381249.3 - 2 911 c.804C>T c.(802-804)ttC>ttT p.F268F RDH14_ENST00000468071.1_5'UTR NM_020905.3 NP_065956.1 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) ACACCAAATTGAAGAGTGGTT 0.453000 45 113 0 0 0.002852 0 0 CASR 846 broad.mit.edu 37 3 121980966 121980966 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:121980966G>A ENST00000498619.1 + 4 1522 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K CASR_ENST00000296154.5_Missense_Mutation_p.E362K|CASR_ENST00000490131.1_Missense_Mutation_p.E362K NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 362 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCACCTCCAAGAAGGTGCAAA 0.507000 11 44 0 0 0.000978 0 0 WDR72 256764 broad.mit.edu 37 15 53992010 53992010 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:53992010C>T ENST00000396328.1 - 13 1941 c.1702G>A c.(1702-1704)Gtt>Att p.V568I WDR72_ENST00000557913.1_Missense_Mutation_p.V565I|WDR72_ENST00000559418.1_Missense_Mutation_p.V578I|WDR72_ENST00000360509.5_Missense_Mutation_p.V568I NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 568 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) AAATTCTCAACCGGGTGCCAT 0.418000 114 145 0 0 0.003610 0 0 HELB 92797 broad.mit.edu 37 12 66717914 66717914 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:66717914C>T ENST00000247815.4 + 10 2508 c.2449C>T c.(2449-2451)Cct>Tct p.P817S NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 817 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TGGTACGCTTCCTGATTTTGC 0.358000 31 192 0 0 0.002445 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653108 46653108 + Missense_Mutation SNP T T G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:46653108T>G ENST00000253255.5 - 1 6111 c.6112A>C c.(6112-6114)Att>Ctt p.I2038L NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2038 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TGAAAGGGAATGAAGTCTTCT 0.383000 20 77 0 0 0.001882 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21294544 21294544 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:21294544G>A ENST00000256958.2 + 2 132 c.36G>A c.(34-36)gaG>gaA p.E12E RP11-125O5.2_ENST00000590779.1_3'UTR NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 12 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) AAACAGCAGAGGCACAACCTT 0.299000 18 32 0 0 0.003330 0 0 TMEM82 388595 broad.mit.edu 37 1 16069344 16069344 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:16069344C>T ENST00000375782.1 + 2 241 c.103C>T c.(103-105)Ctt>Ttt p.L35F RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_Intron NM_001013641.1 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 35 Leu-rich. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1) 13 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GATCGGGGCCCTTGGAGTCTT 0.647000 6 6 0 0 0.001984 0 0 RSF1 51773 broad.mit.edu 37 11 77402212 77402212 + Silent SNP G G A rs139840785 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:77402212G>A ENST00000308488.6 - 9 3194 c.2892C>T c.(2890-2892)gcC>gcT p.A964A RSF1_ENST00000480887.1_Silent_p.A712A|RSF1_ENST00000360355.2_Silent_p.A933A Q96T23 RSF1_HUMAN remodeling and spacing factor 1 964 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) ACCTTCGTTCGGCACGCTCTT 0.353000 26 73 0 0 0.006320 0 0 SLC6A11 6538 broad.mit.edu 37 3 10953849 10953849 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:10953849T>A ENST00000254488.2 + 7 1032 c.966T>A c.(964-966)agT>agA p.S322R NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 322 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CTCTGGGAAGTTATAACAATT 0.512000 26 83 0 0 0.007291 0 0 CCDC67 159989 broad.mit.edu 37 11 93088703 93088703 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:93088703C>T ENST00000298050.3 + 3 296 c.196C>T c.(196-198)Caa>Taa p.Q66* CCDC67_ENST00000527307.1_Nonsense_Mutation_p.Q66* NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 66 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TCAGAAAGGTCAAGAGGTACT 0.333000 7 21 0 0 0.001984 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115526242 115526242 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:115526242A>T ENST00000361048.1 + 3 428 c.101A>T c.(100-102)cAg>cTg p.Q34L PLEKHS1_ENST00000369312.4_5'UTR|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.Q28L NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 CCACCTTCTCAGCTGTTCTCC 0.343000 38 32 0 0 0.002852 0 0 RSPO1 284654 broad.mit.edu 37 1 38078580 38078580 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:38078580C>T ENST00000356545.2 - 8 1426 c.639G>A c.(637-639)agG>agA p.R213R RSPO1_ENST00000401071.2_Silent_p.R150R|RSPO1_ENST00000401069.1_Silent_p.R213R|RSPO1_ENST00000373059.1_Silent_p.R186R|RSPO1_ENST00000401068.1_Silent_p.R213R|RSPO1_ENST00000401070.1_Silent_p.R150R NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 213 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCCTCCCTTCCTCCTCTTCT 0.617000 13 21 0 0 0.003163 0 0 TAF9 6880 broad.mit.edu 37 5 68651550 68651550 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:68651550G>A ENST00000380822.4 - 4 303 c.252C>T c.(250-252)ttC>ttT p.F84F TAF9_ENST00000380818.3_Silent_p.F81F|TAF9_ENST00000512561.1_Silent_p.F53F|TAF9_ENST00000502819.1_Intron NM_016283.4 NP_057367.1 Q9Y3D8 KAD6_HUMAN TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa 84 Cajal body adenylate kinase activity|ATP binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 8 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) AGCGTTCAGGGAAGAAATCAC 0.333000 15 77 0 0 0.003163 0 0 PCP4 5121 broad.mit.edu 37 21 41300911 41300911 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:41300911G>A ENST00000328619.5 + 3 249 c.64G>A c.(64-66)Gga>Aga p.G22R PCP4_ENST00000468717.1_3'UTR NM_006198.2 NP_006189.2 P48539 PCP4_HUMAN Purkinje cell protein 4 22 central nervous system development cytosol|nucleus p.G22R(1) large_intestine(2)|lung(1)|skin(1) 4 Prostate(19;2.65e-06)|all_epithelial(19;0.138) TGCTACAGATGGACAGAAGAA 0.453000 13 64 0 0 0.004007 0 0 CD109 135228 broad.mit.edu 37 6 74519803 74519803 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:74519803C>T ENST00000437994.2 + 27 3883 c.3452C>T c.(3451-3453)tCa>tTa p.S1151L CD109_ENST00000422508.2_Missense_Mutation_p.S1074L|CD109_ENST00000287097.5_Missense_Mutation_p.S1151L NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 1151 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCACTGCTCTCACACTTCTTA 0.483000 32 3 0 0 0.004878 0 0 ASIC5 51802 broad.mit.edu 37 4 156784766 156784766 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:156784766G>A ENST00000537611.2 - 2 227 c.181C>T c.(181-183)Cgc>Tgc p.R61C TDO2_ENST00000506181.1_Intron NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 61 integral to membrane|plasma membrane AGCACCCTGCGAATTTTGCTC 0.488000 12 22 0 0 0.001855 0 0 MDM1 56890 broad.mit.edu 37 12 68716926 68716926 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:68716926G>A ENST00000303145.7 - 5 814 c.728C>T c.(727-729)cCa>cTa p.P243L MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000411698.2_Missense_Mutation_p.P198L NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 243 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) TTCTTTCACTGGAGATAAACC 0.328000 63 47 0 0 0.003610 0 0 EOGT 285203 broad.mit.edu 37 3 69053543 69053543 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:69053543G>A ENST00000383701.3 - 8 1348 c.606C>T c.(604-606)agC>agT p.S202S EOGT_ENST00000295571.5_Silent_p.S202S|EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_Silent_p.S101S NM_001278689.1 NP_001265618.1 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase ACTGCAGAGGGCTTTTGCGCT 0.398000 37 29 0 0 0.005524 0 0 SCN5A 6331 broad.mit.edu 37 3 38607912 38607912 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:38607912G>A ENST00000413689.1 - 21 4021 c.3828C>T c.(3826-3828)ttC>ttT p.F1276F SCN5A_ENST00000414099.2_Silent_p.F1276F|SCN5A_ENST00000425664.1_Silent_p.F1276F|SCN5A_ENST00000423572.2_Silent_p.F1275F|SCN5A_ENST00000450102.2_Silent_p.F1222F|SCN5A_ENST00000455624.2_Silent_p.F1275F|SCN5A_ENST00000449557.2_Silent_p.F1222F|SCN5A_ENST00000443581.1_Silent_p.F1275F|SCN5A_ENST00000451551.2_Silent_p.F1222F|SCN5A_ENST00000333535.4_Silent_p.F1276F NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1276 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTACGATGAGGAAGTCGAGCC 0.577000 17 44 0 0 0.001216 0 0 DDC 1644 broad.mit.edu 37 7 50607616 50607616 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:50607616G>A ENST00000444124.2 - 3 512 c.312C>T c.(310-312)tcC>tcT p.S104S DDC_ENST00000357936.5_Silent_p.S104S|DDC_ENST00000426377.1_Intron|DDC_ENST00000431062.1_Silent_p.S104S|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000380984.4_Silent_p.S104S|DDC_ENST00000489162.1_5'UTR NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 104 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CCCTCACCCAGGAGAAGCCGA 0.652000 7 33 0 0 0.003080 0 0 NLRP12 91662 broad.mit.edu 37 19 54307284 54307284 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:54307284C>T ENST00000324134.6 - 6 2675 c.2507G>A c.(2506-2508)gGa>gAa p.G836E NLRP12_ENST00000391772.1_Missense_Mutation_p.G837E|NLRP12_ENST00000354278.3_Missense_Mutation_p.G836E|NLRP12_ENST00000391775.3_Missense_Mutation_p.G836E|NLRP12_ENST00000351894.4_Missense_Mutation_p.G836E|NLRP12_ENST00000391773.1_Missense_Mutation_p.G837E|NLRP12_ENST00000345770.5_Missense_Mutation_p.G837E|NLRP12_ENST00000535162.1_Missense_Mutation_p.G836E NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 836 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CAGTGCATTTCCTGTCAGGTC 0.562000 31 21 0 0 0.001786 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33399973 33399973 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:33399973C>T ENST00000418600.2 + 4 432 c.331C>T c.(331-333)Cca>Tca p.P111S SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P111S|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P52S|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 111 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GAAGAGTGTCCCAGGGGGGAA 0.637000 6 57 0 0 0.001984 0 0 OR5C1 392391 broad.mit.edu 37 9 125551739 125551739 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:125551739G>A ENST00000373680.2 + 1 590 c.528G>A c.(526-528)cgG>cgA p.R176R NM_001001923.1 NP_001001923.1 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, member 1 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1) 20 GCCGCTCCCGGAAGATCAATA 0.567000 13 24 0 0 0.002450 0 0 PCNX 22990 broad.mit.edu 37 14 71543100 71543100 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:71543100C>T ENST00000304743.2 + 28 5747 c.5301C>T c.(5299-5301)ctC>ctT p.L1767L PCNX_ENST00000439984.3_Silent_p.L1656L|PCNX_ENST00000238570.5_Silent_p.L1695L NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1767 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGATTTACCTCAACTGGATAG 0.413000 20 10 0 0 0.002780 0 0 DENND1C 79958 broad.mit.edu 37 19 6477258 6477258 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:6477258G>A ENST00000381480.2 - 8 596 c.484C>T c.(484-486)Ccc>Tcc p.P162S DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.P118S NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 162 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 GTAGGGGGGGGGATACCCTGC 0.672000 16 10 0 0 0.006122 0 0 THBS2 7058 broad.mit.edu 37 6 169648794 169648794 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:169648794G>A ENST00000366787.3 - 4 576 c.327C>T c.(325-327)tcC>tcT p.S109S NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 109 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) ACTGCCTCTGGGAGAGACCGG 0.647000 22 31 0 0 0.002780 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125828895 125828895 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:125828895C>T ENST00000393434.2 - 20 2588 c.2239G>A c.(2239-2241)Ggg>Agg p.G747R ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G757R|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G646R|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G747R NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 747 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity p.G747R(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TTCTGCGGCCCGTGGTCGGTG 0.607000 32 24 0 0 0.002445 0 0 IRF6 3664 broad.mit.edu 37 1 209968732 209968732 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:209968732C>T ENST00000367021.3 - 5 583 c.411G>A c.(409-411)aaG>aaA p.K137K IRF6_ENST00000542854.1_Silent_p.K42K NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 137 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.K137N(1) cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CATCATTATCCTTCTCATCCC 0.542000 HNSCC(57;0.16) 59 27 0 0 0.003610 0 0 EML3 256364 broad.mit.edu 37 11 62376050 62376050 + Silent SNP G G A rs138198368 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:62376050G>A ENST00000394773.2 - 9 1381 c.1074C>T c.(1072-1074)ttC>ttT p.F358F EML3_ENST00000529309.1_Silent_p.F358F|EML3_ENST00000494176.2_Silent_p.F330F|EML3_ENST00000531557.1_Silent_p.F141F|EML3_ENST00000278845.4_Silent_p.F359F NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 358 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CACCCCGCTCGAAGGCCCCCA 0.597000 110 96 0 0 0.003610 0 0 KIF23 9493 broad.mit.edu 37 15 69727868 69727868 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:69727868C>T ENST00000260363.4 + 11 1236 c.1119C>T c.(1117-1119)gtC>gtT p.V373V KIF23_ENST00000559279.1_Silent_p.V373V|KIF23_ENST00000352331.4_Silent_p.V373V|KIF23_ENST00000558585.1_Silent_p.V190V|KIF23_ENST00000537891.1_Silent_p.V190V|KIF23_ENST00000395392.2_Silent_p.V373V NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 373 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 GTATGGATGTCCTAAGAGAGA 0.348000 23 30 0 0 0.001512 0 0 SV2C 22987 broad.mit.edu 37 5 75581632 75581632 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:75581632G>A ENST00000502798.2 + 6 1516 c.1074G>A c.(1072-1074)atG>atA p.M358I RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.M358I NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 358 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) AAGCTTGGATGATTCTGAAGT 0.483000 16 96 0 0 0.001216 0 0 MPP7 143098 broad.mit.edu 37 10 28358748 28358748 + Missense_Mutation SNP C C T rs147738330 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:28358748C>T ENST00000337532.5 - 14 1433 c.1157G>A c.(1156-1158)cGa>cAa p.R386Q MPP7_ENST00000540098.1_Missense_Mutation_p.R386Q|MPP7_ENST00000445954.2_Missense_Mutation_p.R261Q|MPP7_ENST00000375732.1_Missense_Mutation_p.R386Q|MPP7_ENST00000375719.3_Missense_Mutation_p.R386Q NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 386 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 CAGCAGCTTTCGTTTCAGTTC 0.438000 11 17 0 0 0.001368 0 0 C15orf57 90416 broad.mit.edu 37 15 40855073 40855073 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:40855073G>A ENST00000358005.3 - 2 415 c.142C>T c.(142-144)Cct>Tct p.P48S C15orf57_ENST00000561011.1_Missense_Mutation_p.P48S|C15orf57_ENST00000560305.1_Missense_Mutation_p.P48S|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000558871.1_Missense_Mutation_p.P48S|C15orf57_ENST00000559911.1_Missense_Mutation_p.P48S|C15orf57_ENST00000558750.1_Missense_Mutation_p.P57S|C15orf57_ENST00000558113.1_Missense_Mutation_p.P48S|C15orf57_ENST00000416810.2_Missense_Mutation_p.P48S NM_001080791.1|NM_052849.2 NP_001074260.1|NP_443081.1 Q9BV29 CO057_HUMAN chromosome 15 open reading frame 57 48 endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 9 TCACCTTCAGGGCAAGAATCC 0.502000 57 91 0 0 0.003610 0 0 URGCP 55665 broad.mit.edu 37 7 43918514 43918514 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:43918514G>A ENST00000336086.6 - 4 2655 c.419C>T c.(418-420)cCc>cTc p.P140L URGCP_ENST00000443736.1_Missense_Mutation_p.P140L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.P140L|URGCP_ENST00000402306.3_Missense_Mutation_p.P174L|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Missense_Mutation_p.P183L|URGCP_ENST00000447717.3_Missense_Mutation_p.P140L Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 183 cell cycle centrosome|nucleus GTP binding p.P140>?(1) breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AAGGTCTAAGGGGTTCACTGG 0.527000 41 24 0 0 0.007835 0 0 SIGLEC6 946 broad.mit.edu 37 19 52031024 52031024 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:52031024G>A ENST00000346477.3 - 6 1185 c.1117C>T c.(1117-1119)Ccc>Tcc p.P373S SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P389S|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P337S|SIGLEC6_ENST00000359982.4_Intron NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 389 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) ACCATGACGGGGTTCACATCA 0.498000 71 66 0 0 0.003610 0 0 OR5A1 219982 broad.mit.edu 37 11 59211432 59211432 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:59211432G>A ENST00000302030.2 + 1 816 c.791G>A c.(790-792)cGa>cAa p.R264Q NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 GTGTACTTGCGACCCAGCTCC 0.527000 90 55 0 0 0.003610 0 0 AHNAK 79026 broad.mit.edu 37 11 62291529 62291529 + Missense_Mutation SNP G G C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:62291529G>C ENST00000378024.4 - 5 10634 c.10360C>G c.(10360-10362)Cca>Gca p.P3454A AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3454 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTGACTTCTGGTGCCTTAATA 0.418000 19 85 0 0 0.001216 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953801 161953801 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:161953801C>T ENST00000294794.3 - 8 2340 c.1917G>A c.(1915-1917)gaG>gaA p.E639E OLFML2B_ENST00000367938.1_Silent_p.E122E|OLFML2B_ENST00000367940.2_Silent_p.E640E NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 639 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGCTGAAGCCCTCATCGTCCA 0.617000 15 39 0 0 0.004007 0 0 LAMB1 3912 broad.mit.edu 37 7 107576058 107576058 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:107576058C>T ENST00000393561.1 - 25 4246 c.4062G>A c.(4060-4062)gaG>gaA p.E1354E LAMB1_ENST00000222399.6_Silent_p.E1330E|LAMB1_ENST00000474380.1_5'UTR P07942 LAMB1_HUMAN laminin, beta 1 1330 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCCTCTGCCTCAAGAGACA 0.507000 189 20 0 0 0.003610 0 0 PSG2 5670 broad.mit.edu 37 19 43579635 43579635 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:43579635G>A ENST00000406487.1 - 3 678 c.580C>T c.(580-582)Cag>Tag p.Q194* NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 194 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TCGGACAGCTGAAACCTATGA 0.498000 75 224 0 0 0.003610 0 0 EML4 27436 broad.mit.edu 37 2 42544633 42544633 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:42544633G>A ENST00000318522.5 + 19 2385 c.2123G>A c.(2122-2124)gGa>gAa p.G708E EML4_ENST00000453191.2_Intron|EML4_ENST00000401738.3_Missense_Mutation_p.G719E|EML4_ENST00000402711.2_Missense_Mutation_p.G650E NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 708 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 TCTGAAAATGGAAGAAAATAT 0.328000 T ALK NSCLC 19 57 0 0 0.003954 0 0 NARF 26502 broad.mit.edu 37 17 80442739 80442739 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:80442739C>T ENST00000390006.4 + 9 1181 c.707C>T c.(706-708)tCa>tTa p.S236L NARF_ENST00000309794.10_Missense_Mutation_p.S295L|NARF_ENST00000345415.7_Missense_Mutation_p.S247L|NARF_ENST00000457415.3_Missense_Mutation_p.S341L NM_001038618.2 NP_001033707.1 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor 295 lamin filament lamin binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GGAGCCAGCTCAGACGGGCAC 0.537000 31 51 0 0 0.003271 0 0 KRT3 3850 broad.mit.edu 37 12 53189292 53189292 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:53189292G>A ENST00000417996.2 - 1 609 c.535C>T c.(535-537)Ctc>Ttc p.L179F KRT3_ENST00000309505.3_Missense_Mutation_p.L179F NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 179 Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 GGCTGCAGGAGACTCTGGTTG 0.577000 11 53 0 0 0.000673 0 0 MRC2 9902 broad.mit.edu 37 17 60768038 60768038 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:60768038G>A ENST00000303375.5 + 27 4330 c.3928G>A c.(3928-3930)Gag>Aag p.E1310K MRC2_ENST00000446119.2_Missense_Mutation_p.E176K NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1310 C-type lectin 8. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GGATGAGATGGAGAATGTGTT 0.637000 18 53 0 0 0.001523 0 0 SYTL3 94120 broad.mit.edu 37 6 159146619 159146619 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:159146619C>T ENST00000297239.9 + 10 999 c.805C>T c.(805-807)Ctc>Ttc p.L269F SYTL3_ENST00000360448.3_Missense_Mutation_p.L201F|SYTL3_ENST00000367081.3_Intron Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 269 intracellular protein transport endomembrane system|membrane Rab GTPase binding endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) GCAACAGAATCTCCCATCCAG 0.403000 106 35 0 0 0.003610 0 0 IL17RC 84818 broad.mit.edu 37 3 9959649 9959649 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:9959649C>T ENST00000295981.3 + 3 601 c.383C>T c.(382-384)cCg>cTg p.P128L IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000416074.2_5'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.P57L|IL17RC_ENST00000413608.1_Missense_Mutation_p.P57L|IL17RC_ENST00000383812.4_Missense_Mutation_p.P57L|IL17RC_ENST00000403601.3_Missense_Mutation_p.P57L NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 128 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GTGCCTGCTCCGGGCCCCGTG 0.622000 19 11 0 0 0.001882 0 0 OR2M4 26245 broad.mit.edu 37 1 248402688 248402688 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248402688C>T ENST00000306687.1 + 1 458 c.458C>T c.(457-459)tCt>tTt p.S153F NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACCTTGGGGTCTCTTGATGGG 0.458000 90 44 0 0 0.003610 0 0 PLS1 5357 broad.mit.edu 37 3 142430402 142430402 + Silent SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:142430402T>C ENST00000337777.3 + 15 1902 c.1689T>C c.(1687-1689)aaT>aaC p.N563N PLS1_ENST00000497002.1_Silent_p.N563N|PLS1_ENST00000457734.2_Silent_p.N563N NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 563 Actin-binding 2.|CH 4. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 TTGCACCAAATGCAGTTCGTC 0.348000 15 46 0 0 0.004990 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378227 31378227 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:31378227G>A ENST00000297142.3 - 2 978 c.656C>T c.(655-657)cCc>cTc p.P219L NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 219 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 ATGCCCTGGGGGAGTGGTGAG 0.527000 32 92 0 0 0.005524 0 0 MIER1 57708 broad.mit.edu 37 1 67411848 67411848 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:67411848C>T ENST00000357692.2 + 5 358 c.101C>T c.(100-102)tCa>tTa p.S34L MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371012.2_Missense_Mutation_p.S34L|MIER1_ENST00000355356.3_Missense_Mutation_p.S17L|MIER1_ENST00000371014.1_Missense_Mutation_p.S70L|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401042.3_Missense_Mutation_p.S17L|MIER1_ENST00000371018.3_Missense_Mutation_p.S34L|MIER1_ENST00000371016.1_Missense_Mutation_p.S34L|MIER1_ENST00000401041.1_Missense_Mutation_p.S70L NM_001146110.1 NP_001139582.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 41 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 TCAGCAACATCAGATGACCAT 0.328000 20 31 0 0 0.004656 0 0 CSN2 1447 broad.mit.edu 37 4 70823295 70823295 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:70823295G>A ENST00000353151.3 - 5 383 c.372C>T c.(370-372)ccC>ccT p.P124P NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 124 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 GGTCAAAAAAGGGTATCGTTG 0.478000 17 35 0 0 0.004007 0 0 C16orf82 162083 broad.mit.edu 37 16 27078267 27078267 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:27078267C>T ENST00000505035.1 + 0 240 RP11-673P17.2_ENST00000565783.1_RNA Q7Z2V1 TNT_HUMAN GTCACCTCTCCCCAGAGAGGT 0.562000 26 24 0 0 0.004656 0 0 CYP19A1 1588 broad.mit.edu 37 15 51514559 51514559 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:51514559C>T ENST00000396402.1 - 5 768 c.615G>A c.(613-615)agG>agA p.R205R CYP19A1_ENST00000557858.1_Silent_p.R205R|CYP19A1_ENST00000396404.4_Silent_p.R205R|CYP19A1_ENST00000405913.3_Silent_p.R205R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Silent_p.R205R|CYP19A1_ENST00000559878.1_Silent_p.R205R NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 205 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) CCAAAGGGATCCTCAAGAAGA 0.488000 35 36 0 0 0.004289 0 0 DPM1 8813 broad.mit.edu 37 20 49551736 49551736 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:49551736G>A ENST00000371582.4 - 10 828 c.797C>T c.(796-798)tCc>tTc p.S266F DPM1_ENST00000466152.1_5'UTR|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371588.5_Missense_Mutation_p.S239F|DPM1_ENST00000371583.5_Missense_Mutation_p.S234F O60762 DPM1_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 239 C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 7 TCCCAACTTGGATTCACCATA 0.303000 42 172 0 0 0.003214 0 0 ZNF280D 54816 broad.mit.edu 37 15 56993156 56993156 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:56993156A>T ENST00000559237.1 - 5 1000 c.317T>A c.(316-318)gTt>gAt p.V106D ZNF280D_ENST00000559000.1_Missense_Mutation_p.V106D|ZNF280D_ENST00000267807.7_Missense_Mutation_p.V119D|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000558320.1_Missense_Mutation_p.V119D NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) CTGAACAATAACAGAACTATC 0.393000 22 40 0 0 0.002299 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600319 41600319 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:41600319G>A ENST00000330436.3 + 7 1143 c.1143G>A c.(1141-1143)cgG>cgA p.R381R NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 381 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CCAAGTTTCGGGATTTCTTCC 0.557000 16 35 0 0 0.007413 0 0 TTC37 9652 broad.mit.edu 37 5 94818193 94818193 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:94818193G>A ENST00000358746.2 - 39 4494 c.4196C>T c.(4195-4197)tCt>tTt p.S1399F NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1399 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 AGCTGGAACAGAGGTTGAGTT 0.393000 71 42 0 0 0.003610 0 0 LRIT3 345193 broad.mit.edu 37 4 110791254 110791254 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:110791254G>A ENST00000327908.3 + 4 1564 c.800G>A c.(799-801)aGa>aAa p.R267K LRIT3_ENST00000379920.3_Missense_Mutation_p.R405K|LRIT3_ENST00000409621.2_Missense_Mutation_p.R267K|LRIT3_ENST00000594814.1_Missense_Mutation_p.R450K Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 405 Ig-like. integral to membrane p.R267I(1) cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) GGTGGGAAAAGAAATTTAAAG 0.463000 19 15 0 0 0.006122 0 0 CWF19L2 143884 broad.mit.edu 37 11 107260882 107260882 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:107260882A>G ENST00000282251.5 - 12 1817 c.1790T>C c.(1789-1791)cTa>cCa p.L597P CWF19L2_ENST00000433523.1_Missense_Mutation_p.L597P NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 597 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) ATTTAGGCTTAGATTATCATC 0.323000 15 19 0 0 0.002450 0 0 ZNF827 152485 broad.mit.edu 37 4 146686280 146686280 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:146686280C>T ENST00000508784.1 - 13 3317 c.3090G>A c.(3088-3090)acG>acA p.T1030T ZNF827_ENST00000379448.4_Silent_p.T1030T|ZNF827_ENST00000513320.1_Silent_p.T680T Q17R98 ZN827_HUMAN zinc finger protein 827 1030 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) ACATGTTCTTCGTCTTGCAGA 0.532000 11 42 0 0 0.000673 0 0 SNCAIP 9627 broad.mit.edu 37 5 121726833 121726833 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:121726833G>A ENST00000261367.7 + 3 1432 c.4G>A c.(4-6)Gaa>Aaa p.E2K SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E2K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E2K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E2K|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E2K|SNCAIP_ENST00000414317.2_5'UTR|SNCAIP_ENST00000504884.2_Missense_Mutation_p.E2K|SNCAIP_ENST00000379538.3_5'UTR Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 2 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AAGAATAATGGAAGCCCCTGA 0.353000 58 18 0 0 0.003610 0 0 CD22 933 broad.mit.edu 37 19 35823659 35823659 + Translation_Start_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:35823659G>A ENST00000270311.6 + 0 321 CD22_ENST00000341773.6_Missense_Mutation_p.D82N|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000085219.5_Missense_Mutation_p.D82N|CD22_ENST00000536635.2_Missense_Mutation_p.D82N|CD22_ENST00000419549.2_De_novo_Start_InFrame|CD22_ENST00000594250.1_Missense_Mutation_p.D82N|CD22_ENST00000544992.2_Missense_Mutation_p.D82N NM_001185100.1 NP_001172029.1 P20273 CD22_HUMAN CD22 molecule cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AAGCACAAAGGATGGGAAGGT 0.473000 19 39 0 0 0.001216 0 0 RPTOR 57521 broad.mit.edu 37 17 78866666 78866666 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:78866666G>A ENST00000306801.3 + 19 2601 c.2239G>A c.(2239-2241)Gaa>Aaa p.E747K RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.E589K NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 747 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 TTTGACAGAGGAATGTAAGAT 0.498000 57 78 0 0 0.003610 0 0 NID2 22795 broad.mit.edu 37 14 52485933 52485933 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:52485933G>A ENST00000216286.5 - 14 2873 c.2874C>T c.(2872-2874)ttC>ttT p.F958F NID2_ENST00000541773.1_Silent_p.F857F NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 958 Thyroglobulin type-1 1. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GGGGGATGTGGAACCGGGCCC 0.602000 15 4 0 0 0.001523 0 0 EPPK1 83481 broad.mit.edu 37 8 144940303 144940303 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:144940303G>A ENST00000525985.1 - 2 7190 c.7119C>T c.(7117-7119)aaC>aaT p.N2373N P58107 EPIPL_HUMAN epiplakin 1 2373 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCAGGACGCGGTTCATCTCCT 0.682000 34 352 0 0 0.006230 0 0 SPTA1 6708 broad.mit.edu 37 1 158632567 158632567 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158632567G>A ENST00000368148.3 - 17 2569 c.2389C>T c.(2389-2391)Ctg>Ttg p.L797L SPTA1_ENST00000368147.3_Silent_p.L797L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 797 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTACAAATCAGCTGCAGATGG 0.512000 41 18 0 0 0.001951 0 0 NLRP14 338323 broad.mit.edu 37 11 7079535 7079535 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:7079535G>A ENST00000299481.4 + 8 2833 c.2487G>A c.(2485-2487)gaG>gaA p.E829E NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 829 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GTCTCACAGAGGCTGGCTGTG 0.443000 35 12 0 0 0.006230 0 0 UGT2B10 7365 broad.mit.edu 37 4 69696515 69696515 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:69696515C>T ENST00000265403.7 + 6 1532 c.1505C>T c.(1504-1506)aCc>aTc p.T502I UGT2B10_ENST00000458688.2_Missense_Mutation_p.T418I NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 502 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TGTGTGGCAACCGTGCTATTT 0.433000 39 57 0 0 0.004289 0 0 CBFA2T3 863 broad.mit.edu 37 16 88958295 88958295 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:88958295G>A ENST00000268679.4 - 5 1102 c.706C>T c.(706-708)Ctg>Ttg p.L236L CBFA2T3_ENST00000327483.5_Silent_p.L150L|CBFA2T3_ENST00000448839.1_Silent_p.L160L|CBFA2T3_ENST00000436887.2_Silent_p.L211L|CBFA2T3_ENST00000360302.2_Silent_p.L150L NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 236 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH. cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) ATTACCTTCAGGAAGGGAATG 0.587000 T RUNX1 AML 5 22 0 0 0.001168 0 0 PDCL2 132954 broad.mit.edu 37 4 56448404 56448404 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:56448404C>T ENST00000295645.4 - 2 109 c.6_splice c.e2-1 p.D3_splice NM_152401.2 NP_689614.2 Q8N4E4 PDCL2_HUMAN phosducin-like 2 3 endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) TCATTGGGATCCTACACAAAA 0.303000 11 28 0 0 0.001855 0 0 VPS13D 55187 broad.mit.edu 37 1 12336956 12336956 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:12336956C>T ENST00000358136.3 + 19 3441 c.3311C>T c.(3310-3312)tCc>tTc p.S1104F VPS13D_ENST00000356315.4_Missense_Mutation_p.S1104F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1104 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CAGGTGATTTCCCTACAGGTG 0.363000 13 37 0 0 0.002450 0 0 CACNA1E 777 broad.mit.edu 37 1 181548280 181548280 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:181548280T>C ENST00000526775.1 + 5 854 c.689T>C c.(688-690)tTt>tCt p.F230S CACNA1E_ENST00000360108.3_Missense_Mutation_p.F230S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F181S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F181S|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F230S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F230S NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 230 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTGCTCTTCTTTGCCATCCTG 0.453000 110 59 0 0 0.003610 0 0 CCDC157 550631 broad.mit.edu 37 22 30766437 30766437 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:30766437C>T ENST00000405659.1 + 5 1252 c.543C>T c.(541-543)ccC>ccT p.P181P CCDC157_ENST00000338306.3_Silent_p.P181P Q569K6 CC157_HUMAN coiled-coil domain containing 157 181 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 TAGGCTTGCCCCAGACCTGCC 0.597000 130 13 0 0 0.003610 0 0 KIAA0556 23247 broad.mit.edu 37 16 27689173 27689173 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:27689173C>T ENST00000261588.4 + 7 683 c.664C>T c.(664-666)Ctg>Ttg p.L222L KIAA0556_ENST00000567894.1_3'UTR NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 222 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GGACCCGGCACTGGTGGGCCA 0.522000 16 52 0 0 0.006122 0 0 LILRA3 11026 broad.mit.edu 37 19 54803727 54803727 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:54803727C>T ENST00000391745.1 - 7 464 c.148G>A c.(148-150)Gct>Act p.A50T LILRA3_ENST00000391744.3_Missense_Mutation_p.A33T|LILRA3_ENST00000251390.3_Missense_Mutation_p.A33T leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCTGGCTCAGCCCAGAGGGTG 0.552000 16 49 0 0 0.001216 0 0 CACNA1A 773 broad.mit.edu 37 19 13565990 13565990 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:13565990C>T ENST00000360228.5 - 2 329 c.330G>A c.(328-330)gcG>gcA p.A110A CACNA1A_ENST00000573710.2_Silent_p.A110A NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 110 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CGATGCAATTCGCTATGATGG 0.473000 45 147 0 0 0.003610 0 0 CUL2 8453 broad.mit.edu 37 10 35328007 35328007 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:35328007G>A ENST00000374748.1 - 10 1031 c.718C>T c.(718-720)Cta>Tta p.L240L CUL2_ENST00000602371.1_Silent_p.L183L|CUL2_ENST00000537177.1_Silent_p.L259L|CUL2_ENST00000374742.1_Silent_p.L240L|CUL2_ENST00000374751.3_Silent_p.L240L|CUL2_ENST00000374749.3_Silent_p.L240L|CUL2_ENST00000374746.1_Silent_p.L240L Q13617 CUL2_HUMAN cullin 2 240 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 AATCTACCTAGAACCTATAAA 0.318000 14 12 0 0 0.002450 0 0 CHRM2 1129 broad.mit.edu 37 7 136700369 136700369 + Missense_Mutation SNP G G A rs140681489 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:136700369G>A ENST00000445907.2 + 3 1285 c.757G>A c.(757-759)Gat>Aat p.D253N AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.D253N|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.D253N|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.D253N|CHRM2_ENST00000397608.3_Missense_Mutation_p.D253N|CHRM2_ENST00000320658.5_Missense_Mutation_p.D253N|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 253 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding p.D253N(2) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CAGCAGTGACGATGGCCTGGA 0.512000 40 6 0 0 0.007835 0 0 NLRP3 114548 broad.mit.edu 37 1 247587382 247587382 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:247587382G>A ENST00000366497.2 + 4 1417 c.637G>A c.(637-639)Gat>Aat p.D213N NLRP3_ENST00000336119.3_Missense_Mutation_p.D213N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.D213N|NLRP3_ENST00000348069.2_Missense_Mutation_p.D213N|NLRP3_ENST00000391828.3_Missense_Mutation_p.D213N|NLRP3_ENST00000391827.2_Missense_Mutation_p.D213N NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 213 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGACCCCGATGATGAGCATTC 0.587000 15 41 0 0 0.003163 0 0 VILL 50853 broad.mit.edu 37 3 38048127 38048127 + Missense_Mutation SNP G G T rs147292695 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:38048127G>T ENST00000283713.6 + 19 2659 c.2393G>T c.(2392-2394)cGg>cTg p.R798L VILL_ENST00000465644.1_Missense_Mutation_p.R516L|VILL_ENST00000383759.2_Missense_Mutation_p.R798L O15195 VILL_HUMAN villin-like 798 HP. actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GGCCTGCGCCGGGAACAACTG 0.657000 5 49 0.000602214 0.000967026 0.000602 1 0 CPD 1362 broad.mit.edu 37 17 28750597 28750597 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:28750597C>T ENST00000225719.4 + 6 1807 c.1731C>T c.(1729-1731)ctC>ctT p.L577L CPD_ENST00000543464.2_Silent_p.L330L NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 577 Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 TGTTGAACCTCATAGAATACC 0.378000 11 30 0 0 0.000978 0 0 ZNF200 7752 broad.mit.edu 37 16 3274538 3274538 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:3274538G>A ENST00000431561.3 - 5 1154 c.542C>T c.(541-543)tCt>tTt p.S181F ZNF200_ENST00000414144.2_Missense_Mutation_p.S181F|ZNF200_ENST00000396868.3_Missense_Mutation_p.S180F|ZNF200_ENST00000396870.4_Missense_Mutation_p.S180F|ZNF200_ENST00000396871.4_Missense_Mutation_p.S180F|ZNF200_ENST00000575948.1_Missense_Mutation_p.S180F|AJ003147.9_ENST00000576468.1_RNA NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.S181F(1) breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 ATCATCTGAAGACTTTTCTCT 0.393000 16 38 0 0 0.004007 0 0 TNRC6B 23112 broad.mit.edu 37 22 40711447 40711447 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:40711447C>T ENST00000454349.2 + 20 5050 c.4839C>T c.(4837-4839)ccC>ccT p.P1613P TNRC6B_ENST00000402203.1_Silent_p.P809P|TNRC6B_ENST00000335727.8_Silent_p.P1503P|TNRC6B_ENST00000301923.9_Silent_p.P809P NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1613 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CATCATCTCCCTGGAGCAGCA 0.572000 71 29 0 0 0.003610 0 0 ADAM12 8038 broad.mit.edu 37 10 127731669 127731669 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:127731669G>A ENST00000368679.4 - 18 2362 c.2053C>T c.(2053-2055)Ccc>Tcc p.P685S ADAM12_ENST00000368676.4_Missense_Mutation_p.P685S NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 685 EGF-like. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TCACAGAAGGGAGGTGCCCAG 0.612000 19 19 0 0 0.001882 0 0 KIF19 124602 broad.mit.edu 37 17 72338102 72338102 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:72338102G>A ENST00000389916.4 + 3 346 c.208G>A c.(208-210)Gcc>Acc p.A70T NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 70 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 GTTCGACGTGGCCTTTGACTT 0.662000 56 82 0 0 0.003610 0 0 FCER1A 2205 broad.mit.edu 37 1 159277645 159277645 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:159277645C>T ENST00000368115.1 + 6 796 c.697C>T c.(697-699)Ctc>Ttc p.L233F FCER1A_ENST00000368114.1_Missense_Mutation_p.L200F NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 233 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GGTCACATTTCTCTTGAAGAT 0.388000 16 53 0 0 0.004007 0 0 HECW1 23072 broad.mit.edu 37 7 43508575 43508575 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:43508575C>T ENST00000395891.1 + 16 3575 c.2970C>T c.(2968-2970)gtC>gtT p.V990V HECW1_ENST00000453890.1_Silent_p.V956V NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 990 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TTCTGAAAGTCCGACGGGATG 0.547000 28 68 0 0 0.006320 0 0 RHBG 57127 broad.mit.edu 37 1 156347844 156347844 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:156347844G>A ENST00000400992.2 + 4 599 c.231G>A c.(229-231)aaG>aaA p.K77K RHBG_ENST00000451864.2_Silent_p.K77K|RHBG_ENST00000368246.2_Silent_p.K146K|RHBG_ENST00000368249.1_Silent_p.K146K|RHBG_ENST00000255013.3_Silent_p.K77K|RHBG_ENST00000537040.1_Intron Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 146 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) TCCTGGGCAAGACCGGGCCTA 0.602000 28 62 0 0 0.001512 0 0 CLSTN2 64084 broad.mit.edu 37 3 140122557 140122557 + Missense_Mutation SNP C C T rs150165907 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:140122557C>T ENST00000458420.3 + 3 509 c.319C>T c.(319-321)Cgt>Tgt p.R107C NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 107 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGGCCGGCTCCGTGCCAAGAG 0.562000 HNSCC(16;0.037) 38 105 0 0 0.004878 0 0 LGALS14 56891 broad.mit.edu 37 19 40197293 40197293 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:40197293G>A ENST00000392052.3 + 2 295 c.72G>A c.(70-72)ggG>ggA p.G24G LGALS14_ENST00000360675.3_Silent_p.G53G NM_020129.2 NP_064514.1 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 24 Galectin. nucleus sugar binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2) 14 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) TAATCACAGGGACACCGATCC 0.493000 55 137 0 0 0.003610 0 0 RYR2 6262 broad.mit.edu 37 1 237995900 237995900 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:237995900C>T ENST00000366574.2 + 105 15174 c.14857C>T c.(14857-14859)Cca>Tca p.P4953S RYR2_ENST00000360064.6_Missense_Mutation_p.P4959S|RYR2_ENST00000542537.1_Missense_Mutation_p.P4937S|RYR2_ENST00000462585.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4953 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGAATTTTTCCCAGCAGGGGA 0.418000 16 42 0 0 0.006122 0 0 MYH8 4626 broad.mit.edu 37 17 10323373 10323373 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10323373C>T ENST00000403437.2 - 3 266 c.172G>A c.(172-174)Gaa>Aaa p.E58K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 58 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTCCCTCCTTCTTTGCTTTGT 0.438000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 88 217 0 0 0.003610 0 0 UBA2 10054 broad.mit.edu 37 19 34949692 34949692 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:34949692C>T ENST00000439527.2 + 13 1474 c.976C>T c.(976-978)Cca>Tca p.P326S UBA2_ENST00000246548.4_Missense_Mutation_p.P422S|UBA2_ENST00000592791.1_5'UTR Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 422 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GAATAAACAACCAAACCCAAG 0.423000 18 63 0 0 0.001523 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228404 140228404 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140228404G>A ENST00000378122.3 + 1 1048 c.324G>A c.(322-324)gtG>gtA p.V108V PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.V108V|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTGGAGGTGATCGTAGACA 0.542000 38 240 0 0 0.001951 0 0 MTMR7 9108 broad.mit.edu 37 8 17218671 17218671 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:17218671G>A ENST00000180173.5 - 4 457 c.423C>T c.(421-423)ctC>ctT p.L141L MTMR7_ENST00000521857.1_Silent_p.L141L NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 141 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) AATGATTAGGGAGGCCCATCC 0.473000 15 21 0 0 0.004990 0 0 GAK 2580 broad.mit.edu 37 4 860902 860902 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:860902G>A ENST00000314167.4 - 21 2824 c.2714C>T c.(2713-2715)tCc>tTc p.S905F GAK_ENST00000511163.1_Missense_Mutation_p.S826F|GAK_ENST00000509566.1_5'UTR NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 905 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GGTGTTGCTGGAGGGGGCCTT 0.721000 6 8 0 0 0.003080 0 0 PRG4 10216 broad.mit.edu 37 1 186281394 186281394 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:186281394G>A ENST00000445192.2 + 11 3926 c.3881G>A c.(3880-3882)gGa>gAa p.G1294E PRG4_ENST00000367483.4_Missense_Mutation_p.G1253E|PRG4_ENST00000367485.4_Missense_Mutation_p.G1201E|PRG4_ENST00000367486.3_Missense_Mutation_p.G1251E|PRG4_ENST00000367484.3_Missense_Mutation_p.G823E NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1294 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCAGTGTATGGAGAAACGACA 0.433000 23 70 0 0 0.002299 0 0 PDZD7 79955 broad.mit.edu 37 10 102782035 102782035 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:102782035G>A ENST00000370215.3 - 5 875 c.650C>T c.(649-651)tCc>tTc p.S217F NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 217 PDZ 2. cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) GAAGTCGTCGGAGGTTGTGTA 0.587000 10 33 0 0 0.000673 0 0 CPT1C 126129 broad.mit.edu 37 19 50216832 50216832 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:50216832C>T ENST00000392518.4 + 20 2754 c.2382C>T c.(2380-2382)tcC>tcT p.S794S CPT1C_ENST00000323446.5_Silent_p.S794S|CPT1C_ENST00000598293.1_Silent_p.S794S|CPT1C_ENST00000405931.2_Silent_p.S783S|CPT1C_ENST00000354199.5_Silent_p.S705S NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 794 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CTGGGGCCTCCAAGGCCTCAA 0.577000 21 49 0 0 0.004656 0 0 GEMIN5 25929 broad.mit.edu 37 5 154311045 154311045 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:154311045G>A ENST00000285873.7 - 5 829 c.754C>T c.(754-756)Cga>Tga p.R252* NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 252 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CTCCAGATTCGAATGGTTTGA 0.418000 6 55 0 0 0.003080 0 0 SLC26A5 375611 broad.mit.edu 37 7 103051948 103051948 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:103051948A>C ENST00000306312.3 - 6 750 c.489T>G c.(487-489)aaT>aaG p.N163K SLC26A5_ENST00000339444.6_Missense_Mutation_p.N163K|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000432958.2_Missense_Mutation_p.N163K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.N163K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.N126K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.N163K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.N163K|SLC26A5_ENST00000393735.2_Missense_Mutation_p.N163K|SLC26A5_ENST00000356767.4_Missense_Mutation_p.N163K NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 163 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 CATTGGTTGCATTTACTCCTC 0.448000 80 8 0 0 0.003610 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133663997 133663997 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:133663997G>A ENST00000310926.4 - 10 1676 c.1403C>T c.(1402-1404)tCc>tTc p.S468F SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S392F NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 468 Kazal-like. sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 ATGGCAAGGGGAGAGGTACTC 0.582000 40 130 0 0 0.002222 0 0 NALCN 259232 broad.mit.edu 37 13 101710319 101710319 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:101710319C>T ENST00000251127.6 - 43 5076 c.4995G>A c.(4993-4995)agG>agA p.R1665R NALCN-AS1_ENST00000457843.1_RNA NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1665 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCCCAAATTTCCTCTGGGGTT 0.562000 20 33 0 0 0.001882 0 0 FCAR 2204 broad.mit.edu 37 19 55385768 55385768 + Missense_Mutation SNP T T G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55385768T>G ENST00000355524.3 + 1 33 c.23T>G c.(22-24)cTc>cGc p.L8R FCAR_ENST00000469767.1_Missense_Mutation_p.L8R|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.L8R|FCAR_ENST00000391723.3_Missense_Mutation_p.L8R|FCAR_ENST00000391725.3_Missense_Mutation_p.L8R|FCAR_ENST00000391724.3_Missense_Mutation_p.L8R|FCAR_ENST00000391726.3_Missense_Mutation_p.L8R|FCAR_ENST00000353758.4_Missense_Mutation_p.L8R|FCAR_ENST00000359272.4_Missense_Mutation_p.L8R NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 8 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CAGACCACCCTCCTGTGTCTT 0.463000 21 90 0 0 0.002299 0 0 ZNF675 171392 broad.mit.edu 37 19 23836932 23836932 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:23836932G>A ENST00000359788.4 - 4 971 c.803C>T c.(802-804)tCc>tTc p.S268F ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 268 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AAGGTGTGAGGACTGGTTAAA 0.353000 10 52 0 0 0.000978 0 0 TMEM8C 389827 broad.mit.edu 37 9 136389876 136389876 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:136389876G>A ENST00000339996.3 - 1 192 c.91C>T c.(91-93)Cac>Tac p.H31Y TMEM8C_ENST00000413714.1_Intron NM_001080483.2 NP_001073952.1 A6NI61 TMM8C_HUMAN transmembrane protein 8C 31 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 GCCTCCATGTGGAACCGCCTC 0.652000 11 38 0 0 0.000978 0 0 ZNF536 9745 broad.mit.edu 37 19 30936114 30936114 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:30936114G>A ENST00000355537.3 + 2 1792 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCGCAACCACGAAGACACTTT 0.552000 21 70 0 0 0.002780 0 0 PALD1 27143 broad.mit.edu 37 10 72300953 72300953 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:72300953C>T ENST00000263563.6 + 16 2272 c.2004C>T c.(2002-2004)acC>acT p.T668T NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 AGGGCCGTACCACAACTGCGA 0.612000 15 46 0 0 0.004990 0 0 DNAH7 56171 broad.mit.edu 37 2 196801391 196801391 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:196801391G>A ENST00000312428.6 - 20 3304 c.3204C>T c.(3202-3204)ttC>ttT p.F1068F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1068 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGAATCTGGGGAAAAAGAGGC 0.338000 15 31 0 0 0.007413 0 0 CCL1 6346 broad.mit.edu 37 17 32688885 32688885 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:32688885G>A ENST00000225842.3 - 2 176 c.107C>T c.(106-108)tCa>tTa p.S36L NM_002981.1 NP_002972.1 P22362 CCL1_HUMAN chemokine (C-C motif) ligand 1 36 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) CTCCGCAAATGAGAAGCAACA 0.458000 OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 91 0 0 0.001882 0 0 SOGA2 23255 broad.mit.edu 37 18 8819049 8819049 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:8819049G>T ENST00000359865.3 + 13 3090 c.2948G>T c.(2947-2949)aGc>aTc p.S983I SOGA2_ENST00000518815.1_Missense_Mutation_p.S308I|SOGA2_ENST00000306329.11_Missense_Mutation_p.S1302I|SOGA2_ENST00000306285.7_Missense_Mutation_p.S308I|SOGA2_ENST00000517570.1_Missense_Mutation_p.S942I|SOGA2_ENST00000400050.3_Missense_Mutation_p.S942I NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1293 CACCAGGGAAGCCTCCGCATG 0.572000 40 5 6.2361e-21 1.01632e-20 0.007835 1 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 32077676 32077676 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:32077676G>A ENST00000354689.6 + 0 291 RP11-1166P10.6_ENST00000566806.1_RNA ATTACTGTGTGAAACACAGAG 0.562000 114 292 0 0 0.003610 0 0 CLEC2B 9976 broad.mit.edu 37 12 10005967 10005967 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:10005967C>T ENST00000228438.2 - 5 1315 c.382G>A c.(382-384)Gat>Aat p.D128N CLEC2B_ENST00000538152.1_Missense_Mutation_p.D59N NM_005127.2 NP_005118.2 Q92478 CLC2B_HUMAN C-type lectin domain family 2, member B 128 C-type lectin. integral to plasma membrane sugar binding endometrium(1)|large_intestine(3)|lung(1) 5 GCACCATCATCGCTGAGGTAG 0.418000 10 40 0 0 0.001368 0 0 NPY5R 4889 broad.mit.edu 37 4 164271428 164271428 + Translation_Start_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:164271428G>A ENST00000515560.1 + 4 1525 c.3G>A c.(1-3)atG>atA p.M1I NPY5R_ENST00000338566.3_Start_Codon_SNP_p.M1I|NPY5R_ENST00000506953.1_Start_Codon_SNP_p.M1I Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 1 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) ACTATAATATGGATTTAGAGC 0.343000 13 26 0 0 0.001368 0 0 CD300A 11314 broad.mit.edu 37 17 72469699 72469699 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:72469699G>A ENST00000360141.3 + 2 353 c.65G>A c.(64-66)aGg>aAg p.R22K CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000310828.5_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 22 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 AGCAAATGCAGGACCGTGGCG 0.587000 35 57 0 0 0.003214 0 0 NBEA 26960 broad.mit.edu 37 13 35756549 35756549 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:35756549C>T ENST00000540320.1 + 29 5249 c.4715C>T c.(4714-4716)tCg>tTg p.S1572L NBEA_ENST00000400445.3_Missense_Mutation_p.S1572L|NBEA_ENST00000379939.2_Missense_Mutation_p.S1569L|NBEA_ENST00000310336.4_Missense_Mutation_p.S1572L Q8NFP9 NBEA_HUMAN neurobeachin 1572 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TACTTCATTTCGGTTCTGATG 0.373000 20 42 0 0 0.007413 0 0 XPC 7508 broad.mit.edu 37 3 14214555 14214555 + Silent SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:14214555A>G ENST00000285021.7 - 2 325 c.111T>C c.(109-111)ttT>ttC p.F37F XPC_ENST00000449060.2_Silent_p.F37F NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 37 Glu-rich (acidic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTCATCTTCAAAGGCATCTA 0.507000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 3 2 0 0 0.004672 0 0 KCNAB3 9196 broad.mit.edu 37 17 7827787 7827787 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7827787G>A ENST00000303790.2 - 9 656 c.657C>T c.(655-657)aaC>aaT p.N219N NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 219 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) CCAGGCCCTGGTTGATGACAT 0.557000 11 37 0 0 0.001368 0 0 RGS12 6002 broad.mit.edu 37 4 3319347 3319347 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:3319347C>T ENST00000336727.3 + 2 2354 c.1450C>T c.(1450-1452)Ccc>Tcc p.P484S RGS12_ENST00000344733.5_Missense_Mutation_p.P484S|RGS12_ENST00000543385.1_Missense_Mutation_p.P484S|RGS12_ENST00000382788.3_Missense_Mutation_p.P484S NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 484 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CGAAGGGAGCCCCCCATTTGA 0.682000 23 34 0 0 0.004656 0 0 SLC12A1 6557 broad.mit.edu 37 15 48518707 48518707 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:48518707G>A ENST00000380993.3 + 5 879 c.663G>A c.(661-663)atG>atA p.M221I SLC12A1_ENST00000559723.1_Intron|SLC12A1_ENST00000396577.3_Intron|SLC12A1_ENST00000330289.6_Missense_Mutation_p.M221I|SLC12A1_ENST00000558405.1_Missense_Mutation_p.M221I NM_000338.2 NP_000329.2 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 221 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TTTCCACCATGGTAACTTCTA 0.388000 15 34 0 0 0.006122 0 0 MIRLET7E 406887 broad.mit.edu 37 19 52196208 52196208 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:52196208G>A ENST00000602324.1 - 0 501 NR_029482.1|NR_029693.1 GACCCTGGGAGGAAGAGCCGG 0.652000 3 5 0 0 0.004672 0 0 TMEM37 140738 broad.mit.edu 37 2 120194767 120194767 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:120194767C>T ENST00000306406.4 + 2 359 c.324C>T c.(322-324)ttC>ttT p.F108F TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Silent_p.F120F NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 108 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 GCCTGGAGTTCCTCATGGTGT 0.652000 23 55 0 0 0.002299 0 0 COBL 23242 broad.mit.edu 37 7 51111119 51111119 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:51111119G>A ENST00000395542.2 - 10 1797 c.1613C>T c.(1612-1614)cCc>cTc p.P538L COBL_ENST00000265136.7_Missense_Mutation_p.P456L O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 456 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTCCCACAAGGGGCTCTTCTG 0.552000 45 111 0 0 0.003610 0 0 RP1 6101 broad.mit.edu 37 8 55534779 55534779 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:55534779C>T ENST00000220676.1 + 3 866 c.718C>T c.(718-720)Cct>Tct p.P240S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 240 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATACTTGCTTCCTGCTAGATT 0.463000 22 19 0 0 0.002780 0 0 ZNF793 390927 broad.mit.edu 37 19 38028479 38028479 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:38028479G>A ENST00000445217.1 + 4 954 c.919G>A c.(919-921)Gga>Aga p.G307R ZNF793_ENST00000542455.1_Missense_Mutation_p.G307R|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.G307R Q6ZN11 ZN793_HUMAN zinc finger protein 793 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G307R(1) kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AACACACACAGGAGAGAGACC 0.458000 7 29 0 0 0.001984 0 0 OR8H3 390152 broad.mit.edu 37 11 55890114 55890114 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:55890114C>T ENST00000313472.3 + 1 266 c.266C>T c.(265-267)tCc>tTc p.S89F NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TTACTGACTTCCAACTATATT 0.428000 141 149 0 0 0.003610 0 0 FZD2 2535 broad.mit.edu 37 17 42636334 42636334 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:42636334C>T ENST00000315323.3 + 1 1410 c.1278C>T c.(1276-1278)atC>atT p.I426I NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 426 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) ACCTGTTCATCGGCACGTCCT 0.642000 26 78 0 0 0.005443 0 0 PSG5 5673 broad.mit.edu 37 19 43690519 43690519 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:43690519G>A ENST00000404580.1 - 1 127 c.39C>T c.(37-39)atC>atT p.I13I PSG5_ENST00000407356.1_Silent_p.I13I|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Silent_p.I13I|PSG5_ENST00000407568.1_Silent_p.I13I|PSG5_ENST00000366175.3_Silent_p.I13I|PSG5_ENST00000342951.6_Silent_p.I13I Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 13 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) CCTTCCAGGTGATGTGCTGTG 0.597000 34 101 0 0 0.007835 0 0 OR4K13 390433 broad.mit.edu 37 14 20502760 20502760 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:20502760G>A ENST00000315693.2 - 1 159 c.158C>T c.(157-159)tCg>tTg p.S53L NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S53L(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GTGAAGGAGCGAATCAAAGGT 0.423000 18 21 0 0 0.007413 0 0 CHRM2 1129 broad.mit.edu 37 7 136700260 136700260 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:136700260G>A ENST00000445907.2 + 3 1176 c.648G>A c.(646-648)agG>agA p.R216R AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Silent_p.R216R|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.R216R|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Silent_p.R216R|CHRM2_ENST00000397608.3_Silent_p.R216R|CHRM2_ENST00000320658.5_Silent_p.R216R|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 216 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GCAAGAGCAGGATAAAGAAGG 0.478000 44 4 0 0 0.001951 0 0 RNF39 80352 broad.mit.edu 37 6 30043031 30043031 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:30043031G>A ENST00000244360.6 - 1 633 c.536C>T c.(535-537)cCc>cTc p.P179L RNF39_ENST00000376751.3_Missense_Mutation_p.P179L NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 179 cytoplasm zinc ion binding GCCCATGGTGGGGATGCGCCC 0.711000 10 20 0 0 0.001855 0 0 SLC5A5 6528 broad.mit.edu 37 19 18004536 18004536 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:18004536C>T ENST00000222248.3 + 15 2129 c.1782C>T c.(1780-1782)ctC>ctT p.L594L NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 594 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CTGAAGAACTCCCCACTGGAA 0.582000 12 17 0 0 0.001855 0 0 PCBP2 5094 broad.mit.edu 37 12 53848587 53848587 + Translation_Start_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:53848587G>A ENST00000603815.1 + 2 353 c.3G>A c.(1-3)atG>atA p.M1I PCBP2_ENST00000549863.1_Start_Codon_SNP_p.M1I|PCBP2_ENST00000541275.1_Start_Codon_SNP_p.M1I|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Start_Codon_SNP_p.M1I|PCBP2_ENST00000548933.1_Start_Codon_SNP_p.M1I|PCBP2_ENST00000359462.5_Start_Codon_SNP_p.M1I|PCBP2_ENST00000552819.1_Start_Codon_SNP_p.M1I|PCBP2_ENST00000437231.1_Start_Codon_SNP_p.M1I|PCBP2_ENST00000552296.2_Start_Codon_SNP_p.M1I|PCBP2_ENST00000455667.3_Start_Codon_SNP_p.M1I|PCBP2_ENST00000359282.5_Start_Codon_SNP_p.M1I|PCBP2_ENST00000546463.1_Start_Codon_SNP_p.M1I|PCBP2_ENST00000439930.3_Start_Codon_SNP_p.M1I NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 1 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 TGCTCGACATGGACACCGGTG 0.463000 30 71 0 0 0.001786 0 0 CLEC10A 10462 broad.mit.edu 37 17 6980215 6980215 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:6980215G>A ENST00000576617.1 - 4 545 c.276C>T c.(274-276)tcC>tcT p.S92S CLEC10A_ENST00000254868.4_Silent_p.S92S|CLEC10A_ENST00000571664.1_Silent_p.S92S|CLEC10A_ENST00000416562.2_Silent_p.S92S Q8IUN9 CLC10_HUMAN C-type lectin domain family 10, member A 92 endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 ACTCACCCTGGGAAGTCAGTG 0.562000 39 53 0 0 0.001951 0 0 ATG2A 23130 broad.mit.edu 37 11 64669577 64669577 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:64669577G>A ENST00000421419.2 - 29 4096 c.3982C>T c.(3982-3984)Cct>Tct p.P1328S ATG2A_ENST00000377264.3_Missense_Mutation_p.P1326S Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1326 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGTGGTGAAGGGGGTGGGGCC 0.622000 21 72 0 0 0.002299 0 0 KIF5A 3798 broad.mit.edu 37 12 57963333 57963333 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57963333G>A ENST00000455537.2 + 11 1258 c.984G>A c.(982-984)aaG>aaA p.K328K KIF5A_ENST00000286452.5_Silent_p.K239K NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 328 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 AGACCATTAAGAACACTGCCT 0.493000 47 536 0 0 0.003610 0 0 THEMIS 387357 broad.mit.edu 37 6 128134948 128134948 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:128134948C>T ENST00000368250.1 - 5 1099 c.601G>A c.(601-603)Gag>Aag p.E201K THEMIS_ENST00000368248.2_Missense_Mutation_p.E280K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E280K|THEMIS_ENST00000537166.1_Missense_Mutation_p.E245K Q8N1K5 THMS1_HUMAN thymocyte selection associated 280 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 ATGGGGAACTCTTTACTAGTC 0.408000 69 19 0 0 0.003610 0 0 GRIN2A 2903 broad.mit.edu 37 16 9927982 9927982 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:9927982C>T ENST00000396573.2 - 9 2066 c.1757G>A c.(1756-1758)aGa>aAa p.R586K GRIN2A_ENST00000404927.2_Missense_Mutation_p.R586K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R586K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R586K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R429K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R586K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 586 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGCTAAGTTTCTGTTGTATCC 0.388000 72 71 0 0 0.003610 0 0 CDSN 1041 broad.mit.edu 37 6 31083859 31083859 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:31083859G>A ENST00000376288.2 - 2 1559 c.1533C>T c.(1531-1533)ccC>ccT p.P511P PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 511 cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 CAGCTAGCTGGGGCCCCAGAG 0.562000 20 84 0 0 0.002299 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990831 39990831 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:39990831C>T ENST00000332312.3 - 4 1570 c.1378G>A c.(1378-1380)Ggg>Agg p.G460R NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 460 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) ACTCCCCACCCCCCCATGTCC 0.637000 47 77 0 0 0.003610 0 0 LGALS12 85329 broad.mit.edu 37 11 63283740 63283740 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:63283740G>A ENST00000415491.2 + 8 1317 c.703G>A c.(703-705)Gga>Aga p.G235R LGALS12_ENST00000425950.2_Missense_Mutation_p.G226R|LGALS12_ENST00000394618.3_Missense_Mutation_p.G296R|LGALS12_ENST00000340246.5_Missense_Mutation_p.G297R|LGALS12_ENST00000255684.5_Missense_Mutation_p.G287R NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 296 Galectin 2. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 GTTCCAGGAGGGAGGGCTGAA 0.632000 15 25 0 0 0.004990 0 0 SH3TC2 79628 broad.mit.edu 37 5 148408018 148408018 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:148408018C>T ENST00000515425.1 - 11 1378 c.1277G>A c.(1276-1278)aGc>aAc p.S426N SH3TC2_ENST00000394358.2_Missense_Mutation_p.S311N|SH3TC2_ENST00000512049.1_Missense_Mutation_p.S419N|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000513340.1_5'UTR NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 426 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCTCCAGGCTGGAGTCCTC 0.622000 8 74 0 0 0.003080 0 0 EPYC 1833 broad.mit.edu 37 12 91358040 91358040 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:91358040G>A ENST00000261172.3 - 7 954 c.862C>T c.(862-864)Cgt>Tgt p.R288C NM_004950.4 NP_004941.2 Q99645 EPYC_HUMAN epiphycan 288 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding p.R288C(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 AGTGCCTTACGAATATAAGTC 0.363000 11 16 0 0 0.002450 0 0 ZNF536 9745 broad.mit.edu 37 19 30935299 30935299 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:30935299C>T ENST00000355537.3 + 2 977 c.830C>T c.(829-831)aCc>aTc p.T277I NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TTCCGCTGTACCTTCTGCAAG 0.667000 13 13 0 0 0.001855 0 0 MICALCL 84953 broad.mit.edu 37 11 12313835 12313835 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:12313835C>T ENST00000256186.2 + 2 411 c.120C>T c.(118-120)tcC>tcT p.S40S NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 40 Ser-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) ATGGTTCCTCCCCGCCTCAGG 0.527000 22 6 0 0 0.002299 0 0 CSMD2 114784 broad.mit.edu 37 1 34383840 34383840 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:34383840G>A ENST00000373381.4 - 5 951 c.775C>T c.(775-777)Ccc>Tcc p.P259S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 219 CUB 2. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TACTCCGAGGGGAAGTGGGGG 0.582000 7 16 0 0 0.003080 0 0 COL6A2 1292 broad.mit.edu 37 21 47545416 47545416 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:47545416C>T ENST00000300527.4 + 25 1958 c.1854C>T c.(1852-1854)ttC>ttT p.F618F COL6A2_ENST00000409416.1_Silent_p.F618F|COL6A2_ENST00000397763.1_Silent_p.F618F|COL6A2_ENST00000310645.5_Silent_p.F618F|COL6A2_ENST00000357838.4_Silent_p.F618F NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 618 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACGTGGTCTTCGTCATCGACA 0.607000 12 47 0 0 0.003163 0 0 DNAH9 1770 broad.mit.edu 37 17 11666756 11666756 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:11666756G>A ENST00000262442.3 + 36 7063 c.e36-1 DNAH9_ENST00000454412.2_Splice_Site NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCTCTTTGCAGGTTTAAGAAG 0.512000 25 87 0 0 0.003330 0 0 DOCK5 80005 broad.mit.edu 37 8 25190120 25190120 + Splice_Site SNP T T G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:25190120T>G ENST00000276440.7 + 20 2047 c.2001_splice c.e20-1 p.F668_splice NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 668 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TATCTTCAGTTTTTGCAAGAT 0.368000 5 9 0 0 0.000602 0 0 MCM3AP 8888 broad.mit.edu 37 21 47697595 47697595 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:47697595G>A ENST00000397708.1 - 6 1958 c.1704C>T c.(1702-1704)caC>caT p.H568H MCM3AP_ENST00000291688.1_Silent_p.H568H O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 568 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CCTCGAATTGGTGGGCCTTTA 0.547000 17 71 0 0 0.001216 0 0 KPNB1 3837 broad.mit.edu 37 17 45753818 45753818 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:45753818C>T ENST00000290158.4 + 16 2363 c.1956C>T c.(1954-1956)ccC>ccT p.P652P KPNB1_ENST00000537679.1_Silent_p.P436P|KPNB1_ENST00000535458.2_Silent_p.P507P|KPNB1_ENST00000540627.1_Silent_p.P507P NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 652 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 CCTTTAAACCCTTCCTGGGCA 0.418000 21 36 0 0 0.003330 0 0 OR5H2 79310 broad.mit.edu 37 3 98002019 98002019 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:98002019G>A ENST00000355273.2 + 1 288 c.288G>A c.(286-288)atG>atA p.M96I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 AAAACAGGATGATATCTCTGT 0.373000 74 62 0 0 0.003610 0 0 PLA2R1 22925 broad.mit.edu 37 2 160833802 160833802 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:160833802G>A ENST00000283243.7 - 15 2600 c.2394C>T c.(2392-2394)atC>atT p.I798I PLA2R1_ENST00000392771.1_Silent_p.I798I NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 798 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TACCTCTTGGGATTTTGCATA 0.348000 6 26 0 0 0.001984 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62652649 62652649 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:62652649G>A ENST00000337910.5 - 5 738 c.401C>T c.(400-402)cCc>cTc p.P134L RHOBTB1_ENST00000357917.4_Missense_Mutation_p.P134L NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 134 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) AAGGATAACGGGTGTTCGAGG 0.493000 12 62 0 0 0.002450 0 0 ZAN 7455 broad.mit.edu 37 7 100389760 100389760 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100389760C>T ENST00000542585.1 + 0 7847 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGCCCCAGAGCCCTTCCAAGA 0.662000 4 20 0 0 0.001168 0 0 ZFAT 57623 broad.mit.edu 37 8 135614441 135614441 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:135614441G>A ENST00000520727.1 - 7 1784 c.1485C>T c.(1483-1485)atC>atT p.I495I ZFAT_ENST00000377838.3_Silent_p.I507I|ZFAT_ENST00000429442.2_Silent_p.I495I|ZFAT_ENST00000520356.1_Silent_p.I495I|ZFAT_ENST00000520214.1_Silent_p.I495I|ZFAT_ENST00000523399.1_Silent_p.I445I NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTTCTTGCTGGATGTCCCCAC 0.602000 15 14 0 0 0.004007 0 0 DSG2 1829 broad.mit.edu 37 18 29121276 29121276 + Splice_Site SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:29121276A>G ENST00000261590.8 + 13 2209 c.2001_splice c.e13+1 p.K667_splice NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 667 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CCTGAAGACAAGGTCAGTGGA 0.463000 7 22 0 0 0.004482 0 0 PCF11 51585 broad.mit.edu 37 11 82880377 82880377 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:82880377C>T ENST00000298281.4 + 8 3452 c.3000C>T c.(2998-3000)gtC>gtT p.V1000V NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 1000 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 GCCCTTTAGTCCAACAAGGAG 0.502000 14 30 0 0 0.004007 0 0 TAOK2 9344 broad.mit.edu 37 16 29994970 29994970 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:29994970C>A ENST00000308893.4 + 13 2450 c.1407C>A c.(1405-1407)atC>atA p.I469I TAOK2_ENST00000416441.2_Silent_p.I296I|TAOK2_ENST00000279394.3_Silent_p.I469I|TAOK2_ENST00000543033.1_Silent_p.I469I NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 469 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 TTGCCACCATCCGAACCGCCT 0.592000 58 156 7.82978e-24 1.27667e-23 0.003610 1 0 ZFYVE20 64145 broad.mit.edu 37 3 15124055 15124055 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:15124055G>A ENST00000253699.3 - 9 1272 c.659C>T c.(658-660)cCc>cTc p.P220L ZFYVE20_ENST00000449964.2_Intron|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.P220L NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 220 Necessary for the correct targeting to endosomes.|Ser-rich. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 GACACTGTTGGGTGACTGGCT 0.602000 26 19 0 0 0.006320 0 0 PHF12 57649 broad.mit.edu 37 17 27240101 27240101 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:27240101G>A ENST00000577226.1 - 9 1834 c.1488C>T c.(1486-1488)tgC>tgT p.C496C PHF12_ENST00000332830.4_Silent_p.C496C|PHF12_ENST00000268756.3_Silent_p.C496C|PHF12_ENST00000582655.1_5'UTR Q96QT6 PHF12_HUMAN PHD finger protein 12 496 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) TCCCTGAGGGGCAGGACAAGG 0.547000 21 64 0 0 0.001882 0 0 VWA3B 200403 broad.mit.edu 37 2 98846523 98846523 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:98846523G>A ENST00000477737.1 + 16 2365 c.2161G>A c.(2161-2163)Gaa>Aaa p.E721K NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 721 p.E721K(1) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCATCAAAAGGAAATCTGTTC 0.358000 32 23 0 0 0.006230 0 0 PLOD1 5351 broad.mit.edu 37 1 12012793 12012793 + Splice_Site SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:12012793G>T ENST00000196061.4 + 5 606 c.e5+1 PLOD1_ENST00000376369.3_Splice_Site|PLOD1_ENST00000485046.1_Splice_Site NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) GGAGAAGAGGGTAAGAGGCAG 0.632000 20 19 1.50039e-11 2.43512e-11 0.001882 1 0 SLC4A7 9497 broad.mit.edu 37 3 27436188 27436188 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:27436188G>A ENST00000295736.5 - 20 2981 c.2911C>T c.(2911-2913)Cca>Tca p.P971S SLC4A7_ENST00000440156.1_Missense_Mutation_p.P967S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P852S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P856S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P980S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P847S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P852S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P963S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P967S|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P521S NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 971 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 ACAAACCATGGAAGTCCCATG 0.423000 15 39 0 0 0.004007 0 0 GRM8 2918 broad.mit.edu 37 7 126173412 126173412 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:126173412C>T ENST00000339582.2 - 9 2832 c.2024G>A c.(2023-2025)cGa>cAa p.R675Q GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.R675Q|GRM8_ENST00000358373.3_Missense_Mutation_p.R675Q O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 675 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTCAAATATTCGGTGGATACG 0.502000 HNSCC(24;0.065) 18 128 0 0 0.001216 0 0 OR2M4 26245 broad.mit.edu 37 1 248402698 248402698 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248402698G>A ENST00000306687.1 + 1 468 c.468G>A c.(466-468)ggG>ggA p.G156G NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTCTTGATGGGATCATAGTGC 0.458000 32 105 0 0 0.002445 0 0 MYO3A 53904 broad.mit.edu 37 10 26377302 26377302 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:26377302C>T ENST00000265944.5 + 15 1696 c.1530C>T c.(1528-1530)ctC>ctT p.L510L MYO3A_ENST00000543632.1_Silent_p.L510L NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 510 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CTGAATATCTCCTGGAAAAAT 0.348000 7 29 0 0 0.004482 0 0 SYTL1 84958 broad.mit.edu 37 1 27677430 27677430 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:27677430C>T ENST00000543823.1 + 10 1613 c.1151C>T c.(1150-1152)cCc>cTc p.P384L SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.P372L Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 384 exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ACCTGGCTCCCCCTGCAGCCC 0.687000 14 20 0 0 0.003163 0 0 ARHGDIA 396 broad.mit.edu 37 17 79827093 79827093 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:79827093G>A ENST00000269321.7 - 5 506 c.371C>T c.(370-372)tCc>tTc p.S124F ARHGDIA_ENST00000580685.1_Missense_Mutation_p.S124F|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.S124F|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.S124F|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.S124F NM_001185078.1|NM_004309.4 NP_001172007.1|NP_004300.1 P52565 GDIR1_HUMAN Rho GDP dissociation inhibitor (GDI) alpha 124 anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoskeleton|cytosol GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity endometrium(1)|lung(1)|prostate(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CTTCATGCCGGACACTATCTC 0.657000 30 28 0 0 0.002096 0 0 THRAP3 9967 broad.mit.edu 37 1 36769490 36769490 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:36769490C>T ENST00000354618.5 + 12 2964 c.2740C>T c.(2740-2742)Cgg>Tgg p.R914W THRAP3_ENST00000469141.2_Missense_Mutation_p.R914W NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 914 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTTCATGTTCCGGAAATCAAG 0.607000 T USP6 aneurysmal bone cysts 16 21 0 0 0.004007 0 0 ZNF81 347344 broad.mit.edu 37 X 47774358 47774358 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:47774358A>G ENST00000376954.1 + 6 681 c.313A>G c.(313-315)Att>Gtt p.I105V ZNF81_ENST00000338637.7_Missense_Mutation_p.I105V P51508 ZNF81_HUMAN zinc finger protein 81 105 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) CCAGAGGAGAATTTCTGGGAA 0.348000 22 4 0 0 0.003954 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24908410 24908410 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:24908410G>A ENST00000396432.2 - 9 2900 c.2414C>T c.(2413-2415)cCa>cTa p.P805L ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P592L NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 804 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 ACCTATAAATGGGATGGAAGC 0.418000 25 38 0 0 0.005443 0 0 KCNT2 343450 broad.mit.edu 37 1 196398838 196398838 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:196398838A>G ENST00000367433.5 - 9 789 c.688T>C c.(688-690)Ttt>Ctt p.F230L KCNT2_ENST00000367431.4_Missense_Mutation_p.F230L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.F230L Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 230 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 AGGGAGTCAAAGAGATTCAGC 0.388000 4 18 0 0 0.000248 0 0 SAP130 79595 broad.mit.edu 37 2 128699649 128699649 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:128699649G>A ENST00000357702.5 - 21 3314 c.3183C>T c.(3181-3183)gtC>gtT p.V1061V SAP130_ENST00000259235.3_Silent_p.V1026V|SAP130_ENST00000259234.6_Silent_p.V1034V NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 1026 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) GCAGCTTCAGGACACGGTCTT 0.408000 25 84 0 0 0.006320 0 0 GRAMD4 23151 broad.mit.edu 37 22 47022827 47022827 + Missense_Mutation SNP C C T rs140068081 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:47022827C>T ENST00000406902.1 + 2 344 c.131C>T c.(130-132)tCg>tTg p.S44L GRAMD4_ENST00000490378.1_Intron|GRAMD4_ENST00000361034.3_Missense_Mutation_p.S44L Q6IC98 GRAM4_HUMAN GRAM domain containing 4 44 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) CCGCGGACCTCGCCCCGGGAC 0.642000 20 90 0 0 0.002299 0 0 HIC2 23119 broad.mit.edu 37 22 21800874 21800874 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:21800874G>A ENST00000443632.2 + 2 2062 c.1690G>A c.(1690-1692)Gat>Aat p.D564N HIC2_ENST00000407464.2_Missense_Mutation_p.D564N|HIC2_ENST00000407598.2_Missense_Mutation_p.D564N Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 564 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) CTTCGCCTGCGATGAGTGTGG 0.632000 45 6 0 0 0.003610 0 0 FAM179A 165186 broad.mit.edu 37 2 29221030 29221030 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:29221030C>T ENST00000379558.4 + 3 401 c.50C>T c.(49-51)gCc>gTc p.A17V FAM179A_ENST00000403861.2_Missense_Mutation_p.A17V NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 17 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCCCCGTGGCCGTGTACTGC 0.632000 8 6 0 0 0.003080 0 0 SYNE1 23345 broad.mit.edu 37 6 152690746 152690746 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:152690746G>A ENST00000367255.5 - 60 10112 c.9511C>T c.(9511-9513)Cta>Tta p.L3171L SYNE1_ENST00000341594.5_Silent_p.L3210L|SYNE1_ENST00000265368.4_Silent_p.L3171L|SYNE1_ENST00000448038.1_Silent_p.L3178L|SYNE1_ENST00000423061.1_Silent_p.L3178L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3171 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGATCTTTAGATTCTGCAAG 0.438000 HNSCC(10;0.0054) 17 7 0 0 0.004990 0 0 PSD 5662 broad.mit.edu 37 10 104173533 104173533 + Missense_Mutation SNP G G A rs144187898 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:104173533G>A ENST00000020673.5 - 5 2072 c.1546C>T c.(1546-1548)Ctt>Ttt p.L516F PSD_ENST00000406432.1_Missense_Mutation_p.L516F NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 516 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TACCTGCCAAGGGGTGCTGCC 0.612000 10 30 0 0 0.001368 0 0 IPO4 79711 broad.mit.edu 37 14 24654167 24654167 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:24654167G>A ENST00000354464.6 - 15 1604 c.1428C>T c.(1426-1428)taC>taT p.Y476Y RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 476 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) GCTCCGGAAGGTAGGGCTGCA 0.617000 10 37 0 0 0.001368 0 0 TRIP12 9320 broad.mit.edu 37 2 230661346 230661346 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:230661346G>A ENST00000283943.5 - 24 3730 c.3552C>T c.(3550-3552)atC>atT p.I1184I TRIP12_ENST00000389045.3_Silent_p.I914I|TRIP12_ENST00000389044.4_Silent_p.I1232I NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1184 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GCTTTAATCTGATCTCTCTGC 0.333000 11 19 0 0 0.003163 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858742 9858742 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:9858742G>A ENST00000396573.2 - 14 2968 c.2659C>T c.(2659-2661)Ctg>Ttg p.L887L GRIN2A_ENST00000404927.2_Silent_p.L887L|GRIN2A_ENST00000396575.2_Silent_p.L887L|GRIN2A_ENST00000330684.3_Silent_p.L887L|GRIN2A_ENST00000535259.1_Silent_p.L730L|GRIN2A_ENST00000562109.1_Silent_p.L887L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 887 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GATCCCGTCAGATTGAAGTCT 0.473000 32 103 0 0 0.002096 0 0 ZNF679 168417 broad.mit.edu 37 7 63726795 63726795 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:63726795C>T ENST00000421025.1 + 5 1053 c.784C>T c.(784-786)Cat>Tat p.H262Y ZNF679_ENST00000255746.4_Missense_Mutation_p.H262Y NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 TAGGAGAATTCATACTGGAGA 0.418000 34 22 0 0 0.003755 0 0 IPO4 79711 broad.mit.edu 37 14 24653526 24653526 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:24653526C>T ENST00000354464.6 - 17 1911 c.1735G>A c.(1735-1737)Gac>Aac p.D579N RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 579 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) AAGTCAGGGTCGTCTACCTGG 0.667000 4 6 0 0 0.000248 0 0 CHUK 1147 broad.mit.edu 37 10 101969473 101969473 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:101969473G>A ENST00000370397.7 - 10 1093 c.1007C>T c.(1006-1008)tCa>tTa p.S336L NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 336 I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) AGACTGTAGTGAATGAAGACT 0.363000 27 20 0 0 0.005443 0 0 CD4 920 broad.mit.edu 37 12 6927708 6927708 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:6927708G>A ENST00000011653.4 + 8 1536 c.1278_splice c.e8+1 p.R426_splice NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 426 cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) GGCACCGAAGGGTGAGTAACC 0.597000 24 11 0 0 0.004656 0 0 VIPAS39 63894 broad.mit.edu 37 14 77904188 77904188 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:77904188G>A ENST00000553888.1 - 12 1309 c.799C>T c.(799-801)Cct>Tct p.P267S VIPAS39_ENST00000343765.2_Missense_Mutation_p.P267S|VIPAS39_ENST00000557658.1_Missense_Mutation_p.P267S|VIPAS39_ENST00000448935.2_Missense_Mutation_p.P218S|VIPAS39_ENST00000327028.4_Missense_Mutation_p.P254S|VIPAS39_ENST00000556412.1_Missense_Mutation_p.P293S NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog CGTTTGTCAGGGTCCTGAATG 0.353000 22 12 0 0 0.003954 0 0 PEG3 5178 broad.mit.edu 37 19 57325127 57325127 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:57325127C>T ENST00000326441.9 - 10 5046 c.4683G>A c.(4681-4683)gaG>gaA p.E1561E ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.E1437E|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.E1435E|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.E1561E|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1561 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGAAGTACTTCTCATCAGCTT 0.542000 22 75 0 0 0.001882 0 0 NPAP1 23742 broad.mit.edu 37 15 24922582 24922582 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:24922582C>T ENST00000329468.2 + 1 2042 c.1568C>T c.(1567-1569)tCc>tTc p.S523F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TGTGTGGATTCCCCTCCTCCT 0.547000 98 100 0 0 0.003610 0 0 NACA 4666 broad.mit.edu 37 12 57114431 57114431 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57114431G>A ENST00000454682.1 - 3 1164 c.883C>T c.(883-885)Ccc>Tcc p.P295S NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P295S|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGGGTGTTGGGACCCGCAGTC 0.502000 T BCL6 NHL 15 138 0 0 0.003163 0 0 DOCK2 1794 broad.mit.edu 37 5 169506038 169506038 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:169506038C>T ENST00000256935.8 + 49 5134 c.5054C>T c.(5053-5055)tCc>tTc p.S1685F DOCK2_ENST00000520908.1_Missense_Mutation_p.S1177F|DOCK2_ENST00000540750.1_Missense_Mutation_p.S746F|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1685 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAACCGATCTCCCCGGGGAGC 0.557000 53 78 0 0 0.003610 0 0 EML1 2009 broad.mit.edu 37 14 100344907 100344907 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:100344907C>T ENST00000262233.6 + 4 608 c.469C>T c.(469-471)Cgc>Tgc p.R157C EML1_ENST00000334192.4_Missense_Mutation_p.R176C|EML1_ENST00000556758.1_3'UTR|EML1_ENST00000327921.9_Missense_Mutation_p.R145C NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 157 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) AAACCGGAATCGCACAGGCTC 0.507000 62 15 0 0 0.003610 0 0 MAT1A 4143 broad.mit.edu 37 10 82034920 82034920 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:82034920C>T ENST00000372213.3 - 7 1064 c.804G>A c.(802-804)gtG>gtA p.V268V MAT1A_ENST00000485270.1_5'UTR NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 268 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) CATAGGTGTCCACAATAATCT 0.597000 7 16 0 0 0.006214 0 0 BRD4 23476 broad.mit.edu 37 19 15367916 15367916 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:15367916G>A ENST00000263377.2 - 8 1631 c.1410C>T c.(1408-1410)tcC>tcT p.S470S BRD4_ENST00000360016.5_Silent_p.S470S|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Silent_p.S470S NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 470 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GCACTGCCGGGGAGGACACGG 0.622000 T C15orf55 lethal midline carcinoma of young people 12 21 0 0 0.001368 0 0 CWC25 54883 broad.mit.edu 37 17 36962603 36962603 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:36962603G>A ENST00000225428.4 - 8 1245 c.948C>T c.(946-948)agC>agT p.S316S CWC25_ENST00000536127.1_Silent_p.S253S NM_017748.3 NP_060218.1 Q9NXE8 CWC25_HUMAN CWC25 spliceosome-associated protein homolog (S. cerevisiae) 316 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 TAGGTGATGGGCTCCTAGTTT 0.502000 24 22 0 0 0.006320 0 0 SYAP1 94056 broad.mit.edu 37 X 16775304 16775304 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:16775304C>T ENST00000380155.3 + 8 896 c.803C>T c.(802-804)aCt>aTt p.T268I NM_032796.3 NP_116185.2 Q96A49 SYAP1_HUMAN synapse associated protein 1 268 endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1) 10 Hepatocellular(33;0.0997) GAAATTTCTACTAGCCCAGGT 0.393000 85 15 0 0 0.003610 0 0 SSBP2 23635 broad.mit.edu 37 5 80762802 80762802 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:80762802C>A ENST00000320672.4 - 9 839 c.629G>T c.(628-630)gGa>gTa p.G210V SSBP2_ENST00000509053.1_Missense_Mutation_p.G180V|SSBP2_ENST00000505980.1_Missense_Mutation_p.G190V|SSBP2_ENST00000514493.1_Missense_Mutation_p.G180V|SSBP2_ENST00000515395.1_Missense_Mutation_p.G188V NM_001256732.1|NM_001256733.1|NM_012446.3 NP_001243661.1|NP_001243662.1|NP_036578.2 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 210 Gly-rich.|Pro-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) CATGTTCATTCCAGGCATTCC 0.333000 32 19 9.17885e-22 1.49628e-21 0.003271 1 0 CDH4 1002 broad.mit.edu 37 20 60448830 60448830 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:60448830C>T ENST00000360469.5 + 7 1012 c.924C>T c.(922-924)acC>acT p.T308T CDH4_ENST00000543233.1_Silent_p.T234T NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 308 Cadherin 2. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) ACGACAGCACCACGGCCAACG 0.607000 48 80 0 0 0.003214 0 0 TET1 80312 broad.mit.edu 37 10 70332986 70332986 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:70332986C>T ENST00000373644.4 + 2 1100 c.891C>T c.(889-891)taC>taT p.Y297Y NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 297 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 ATGATTGCTACCCCACCTCCA 0.418000 22 90 0 0 0.003330 0 0 MUC16 94025 broad.mit.edu 37 19 9049655 9049655 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9049655G>A ENST00000397910.4 - 5 32179 c.31976C>T c.(31975-31977)tCg>tTg p.S10659L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10661 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCTGTCCCCGAAATAGTGAC 0.498000 17 44 0 0 0.004990 0 0 CLEC18B 497190 broad.mit.edu 37 16 74455097 74455097 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:74455097G>A ENST00000339953.5 - 1 193 c.72C>T c.(70-72)acC>acT p.T24T NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 24 extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CCTCTGCCCAGGTGGTGCCAA 0.667000 24 92 0 0 0.003954 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74648914 74648914 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:74648914C>T ENST00000541184.1 - 6 1052 c.576_splice c.e6+1 p.R192_splice ZDHHC15_ENST00000373367.3_Splice_Site_p.R201_splice|ZDHHC15_ENST00000373361.3_Intron NM_001146256.1 NP_001139728.1 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 201 integral to membrane zinc ion binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 TTAACTTACTCTCCAGTATTT 0.373000 5 14 0 0 0.000602 0 0 CEP170 9859 broad.mit.edu 37 1 243333023 243333023 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:243333023C>A ENST00000366542.1 - 12 1801 c.1750G>T c.(1750-1752)Gtt>Ttt p.V584F CEP170_ENST00000366544.1_Missense_Mutation_p.V486F|CEP170_ENST00000366543.1_Missense_Mutation_p.V486F NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 584 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) CACTGTGAAACCCAACGTTTG 0.398000 14 31 1.49906e-05 2.4159e-05 0.002450 1 0 HEPH 9843 broad.mit.edu 37 X 65414953 65414953 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:65414953G>A ENST00000519389.1 + 9 1724 c.1545G>A c.(1543-1545)cgG>cgA p.R515R HEPH_ENST00000374727.3_Silent_p.R464R|HEPH_ENST00000419594.1_Silent_p.R464R|HEPH_ENST00000441993.2_Silent_p.R464R|HEPH_ENST00000343002.2_Silent_p.R461R|HEPH_ENST00000336279.5_Silent_p.R194R Q9BQS7 HEPH_HUMAN hephaestin 461 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CAGTGATCCGGGCTGAGGTGG 0.502000 23 9 0 0 0.007291 0 0 CENPE 1062 broad.mit.edu 37 4 104029962 104029962 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:104029962G>A ENST00000265148.3 - 48 8098 c.8009C>T c.(8008-8010)cCa>cTa p.P2670L CENPE_ENST00000380026.3_Missense_Mutation_p.P2549L NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2670 Globular autoinhibitory domain (By similarity). blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTACTTACCTGGACAAAGGCC 0.358000 5 5 0 0 0.000602 0 0 S100A12 6283 broad.mit.edu 37 1 153346438 153346438 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:153346438G>A ENST00000368737.3 - 3 261 c.144C>T c.(142-144)atC>atT p.I48I NM_005621.1 NP_005612.1 P80511 S10AC_HUMAN S100 calcium binding protein A12 48 EF-hand 1. defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process cytosol|extracellular region|insoluble fraction|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding endometrium(1)|kidney(1)|skin(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) CTTTATCTTTGATATTCTAGG 0.443000 26 31 0 0 0.006320 0 0 TNFSF15 9966 broad.mit.edu 37 9 117552732 117552732 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:117552732C>T ENST00000374045.4 - 4 869 c.756G>A c.(754-756)taG>taA p.*252* TNFSF15_ENST00000374044.1_Silent_p.*175* NM_001204344.1|NM_005118.3 NP_001191273.1|NP_005109.2 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, member 15 0 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 TGCTCTCCTCCTATAGTAAGA 0.413000 23 38 0 0 0.002780 0 0 ATP13A3 79572 broad.mit.edu 37 3 194169326 194169326 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:194169326G>A ENST00000439040.1 - 12 1801 c.1010C>T c.(1009-1011)cCt>cTt p.P337L ATP13A3_ENST00000256031.4_Missense_Mutation_p.P337L Q9H7F0 AT133_HUMAN ATPase type 13A3 337 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) ATCCACTGAAGGATTTGGCAA 0.333000 13 34 0 0 0.004007 0 0 NRXN2 9379 broad.mit.edu 37 11 64375221 64375221 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:64375221G>A ENST00000265459.6 - 23 5047 c.4586C>T c.(4585-4587)cCc>cTc p.P1529L NRXN2_ENST00000409571.1_Missense_Mutation_p.P1522L|NRXN2_ENST00000377551.1_Missense_Mutation_p.P1529L|NRXN2_ENST00000301894.2_Missense_Mutation_p.P483L|NRXN2_ENST00000377559.3_Missense_Mutation_p.P1459L NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1529 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GGGTTTGCGGGGTGACAGGAG 0.711000 3 1 0 0 0.004672 0 0 ATP2C2 9914 broad.mit.edu 37 16 84444353 84444353 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:84444353T>C ENST00000416219.2 + 6 586 c.497T>C c.(496-498)gTt>gCt p.V166A ATP2C2_ENST00000262429.4_Missense_Mutation_p.V166A|ATP2C2_ENST00000420010.2_Intron O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 166 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 ACCAAGATGGTTCCTCCAGAA 0.507000 15 38 0 0 0.006122 0 0 ZNF300 91975 broad.mit.edu 37 5 150275551 150275551 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:150275551G>A ENST00000446148.2 - 7 1725 c.1298C>T c.(1297-1299)gCc>gTc p.A433V ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.A381V|ZNF300_ENST00000274599.5_Missense_Mutation_p.A417V|ZNF300_ENST00000394226.2_Missense_Mutation_p.A417V NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCACAGAAGGCTTTCCCACA 0.463000 35 20 0 0 0.003271 0 0 MYSM1 114803 broad.mit.edu 37 1 59126878 59126878 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:59126878G>A ENST00000472487.1 - 19 2331 c.2292C>T c.(2290-2292)atC>atT p.I764I MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 764 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) CCCGGCGAAAGATTTTATCCA 0.368000 6 21 0 0 0.003080 0 0 LGSN 51557 broad.mit.edu 37 6 63990162 63990162 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:63990162G>A ENST00000370657.4 - 4 1327 c.1294C>T c.(1294-1296)Cat>Tat p.H432Y LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 432 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TTACTGCTATGAAGTCCATCT 0.483000 13 106 0 0 0.002450 0 0 HDAC9 9734 broad.mit.edu 37 7 18688206 18688206 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:18688206C>T ENST00000406451.3 + 11 1508 c.1358C>T c.(1357-1359)cCt>cTt p.P453L HDAC9_ENST00000456174.2_Missense_Mutation_p.P425L|HDAC9_ENST00000524023.1_Missense_Mutation_p.P376L|HDAC9_ENST00000417496.2_Missense_Mutation_p.P451L|HDAC9_ENST00000428307.2_Missense_Mutation_p.P409L|HDAC9_ENST00000406072.1_Missense_Mutation_p.P440L|HDAC9_ENST00000432645.2_Missense_Mutation_p.P453L|HDAC9_ENST00000405010.3_Missense_Mutation_p.P453L|HDAC9_ENST00000441542.2_Missense_Mutation_p.P456L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P412L NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 453 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CAGTCTGCACCTTTGCCTCAG 0.507000 27 70 0 0 0.004656 0 0 GPR112 139378 broad.mit.edu 37 X 135428096 135428096 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:135428096G>A ENST00000394143.1 + 6 2522 c.2231G>A c.(2230-2232)gGa>gAa p.G744E GPR112_ENST00000394141.1_Missense_Mutation_p.G539E|GPR112_ENST00000370652.1_Missense_Mutation_p.G744E|GPR112_ENST00000287534.4_Missense_Mutation_p.G681E|GPR112_ENST00000412101.1_Missense_Mutation_p.G539E NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 744 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATAGTTTCTGGAACCACATCC 0.378000 35 3 0 0 0.003755 0 0 GPR153 387509 broad.mit.edu 37 1 6314159 6314159 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:6314159C>T ENST00000377893.2 - 3 664 c.405G>A c.(403-405)tgG>tgA p.W135* NM_207370.2 NP_997253.2 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 135 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1) 14 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) AGGACACCATCCAGATACCCA 0.622000 20 12 0 0 0.002299 0 0 TMC7 79905 broad.mit.edu 37 16 19056754 19056754 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:19056754C>T ENST00000421369.3 + 11 1775 c.1217C>T c.(1216-1218)cCt>cTt p.P406L TMC7_ENST00000569532.1_Missense_Mutation_p.P516L|TMC7_ENST00000304381.5_Missense_Mutation_p.P516L NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 516 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GTGGATTTTCCTAGAAAGTAA 0.498000 17 45 0 0 0.006122 0 0 TSPEAR 54084 broad.mit.edu 37 21 45953616 45953616 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45953616G>A ENST00000323084.4 - 3 559 c.494C>T c.(493-495)tCc>tTc p.S165F TSPEAR_ENST00000397916.1_Missense_Mutation_p.S97F NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 165 TSP N-terminal. cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 GACGCCTGCGGACACAGCCAG 0.692000 6 25 0 0 0.001168 0 0 TBX10 347853 broad.mit.edu 37 11 67402522 67402522 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:67402522G>A ENST00000335385.3 - 2 307 c.220C>T c.(220-222)Ctg>Ttg p.L74L NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 74 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 TCCTCCCACAGAGGCTTCATC 0.642000 15 17 0 0 0.004007 0 0 WWP2 11060 broad.mit.edu 37 16 69965483 69965483 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:69965483G>A ENST00000359154.2 + 15 1694 c.1593_splice c.e15+1 p.Q531_splice WWP2_ENST00000356003.2_Splice_Site_p.Q531_splice|WWP2_ENST00000542271.1_Splice_Site_p.Q415_splice|WWP2_ENST00000448661.1_Splice_Site_p.Q531_splice|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Splice_Site_p.Q92_splice NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 531 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCTTCCAACAGGTTAGATCAT 0.502000 21 58 0 0 0.006320 0 0 WDFY3 23001 broad.mit.edu 37 4 85617242 85617242 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:85617242C>T ENST00000322366.6 - 57 9138 c.8731G>A c.(8731-8733)Gta>Ata p.V2911I WDFY3_ENST00000295888.4_Missense_Mutation_p.V2928I Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2928 BEACH. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AAGACATTTACAGCTTCTACT 0.408000 24 44 0 0 0.003954 0 0 ADCY2 108 broad.mit.edu 37 5 7626297 7626297 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:7626297C>T ENST00000338316.4 + 4 677 c.588C>T c.(586-588)atC>atT p.I196I NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 196 VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 CCAATGTGATCATTTTCATCT 0.443000 21 153 0 0 0.002299 0 0 BTAF1 9044 broad.mit.edu 37 10 93771156 93771156 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:93771156C>T ENST00000265990.6 + 30 4603 c.4295C>T c.(4294-4296)tCt>tTt p.S1432F BTAF1_ENST00000544642.1_Missense_Mutation_p.S260F NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1432 Helicase ATP-binding. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) ATTATTCTTTCTGGAACACCA 0.308000 9 13 0 0 0.004482 0 0 ZAN 7455 broad.mit.edu 37 7 100391863 100391863 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100391863C>T ENST00000542585.1 + 0 8318 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGGAACCACACCCAAGGCTGC 0.647000 30 133 0 0 0.002096 0 0 TAC3 6866 broad.mit.edu 37 12 57406176 57406176 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57406176G>A ENST00000458521.2 - 6 512 c.353C>T c.(352-354)cCg>cTg p.P118L TAC3_ENST00000441881.1_Missense_Mutation_p.P100L|TAC3_ENST00000415231.1_Missense_Mutation_p.P118L NM_013251.3 NP_037383.1 Q9UHF0 TKNK_HUMAN tachykinin 3 118 female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway extracellular space|soluble fraction receptor binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 TTCTGCTCTCGGGGGATACTT 0.527000 79 26 0 0 0.003610 0 0 NRG3 10718 broad.mit.edu 37 10 83635430 83635430 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:83635430C>T ENST00000404547.1 + 1 334 c.334C>T c.(334-336)Ccc>Tcc p.P112S NRG3_ENST00000372141.2_Missense_Mutation_p.P112S P56975 NRG3_HUMAN neuregulin 3 112 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GGGCCAGGACCCCTTCTTCCT 0.647000 15 22 0 0 0.004007 0 0 OR2A14 135941 broad.mit.edu 37 7 143827081 143827081 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:143827081G>A ENST00000408899.2 + 1 931 c.876G>A c.(874-876)agG>agA p.R292R NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) ATAGCCTAAGGAATGCAGAGG 0.557000 226 27 0 0 0.003610 0 0 HSPA4L 22824 broad.mit.edu 37 4 128722309 128722309 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:128722309C>T ENST00000296464.3 + 5 857 c.446C>T c.(445-447)aCt>aTt p.T149I HSPA4L_ENST00000505726.1_Missense_Mutation_p.T123I|HSPA4L_ENST00000508776.1_Missense_Mutation_p.T149I|HSPA4L_ENST00000439123.2_Missense_Mutation_p.T180I NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 149 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 AGCTTTTTTACTGATGCCGAG 0.338000 15 40 0 0 0.007413 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315384 73315384 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:73315384C>T ENST00000258098.6 - 3 1602 c.1362G>A c.(1360-1362)cgG>cgA p.R454R RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 454 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GTTCCTCCTTCCGGGCTCCCT 0.652000 59 54 0 0 0.003610 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812288 140812288 + Silent SNP C C T rs13360857 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140812288C>T ENST00000252085.3 + 1 2104 c.1962C>T c.(1960-1962)ctC>ctT p.L654L PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCCCCTCTCTCCGCCACTG 0.682000 22 101 0 0 0.001882 0 0 ACAD9 28976 broad.mit.edu 37 3 128627937 128627937 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:128627937C>T ENST00000308982.7 + 14 1561 c.1480C>T c.(1480-1482)Ctt>Ttt p.L494F ACAD9_ENST00000511526.1_3'UTR NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 494 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 GCACCCCAGTCTTGCGGTGAG 0.597000 13 14 0 0 0.001368 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800580 185800580 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:185800580C>T ENST00000302277.6 + 4 1051 c.457C>T c.(457-459)Caa>Taa p.Q153* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 153 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGAAATTTCCCAACGAGTTGT 0.373000 14 13 0 0 0.003163 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198732 170198732 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:170198732C>T ENST00000231706.4 - 7 1654 c.1339G>A c.(1339-1341)Gag>Aag p.E447K CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 447 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TTGGTGTGCTCCTCAGACAAG 0.527000 37 39 0 0 0.003755 0 0 GABRA2 2555 broad.mit.edu 37 4 46252554 46252554 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:46252554G>A ENST00000510861.1 - 10 1300 c.1127C>T c.(1126-1128)cCg>cTg p.P376L GABRA2_ENST00000540012.1_Missense_Mutation_p.P381L|GABRA2_ENST00000381620.4_Missense_Mutation_p.P376L|GABRA2_ENST00000514090.1_Missense_Mutation_p.P376L|GABRA2_ENST00000356504.1_Missense_Mutation_p.P376L|GABRA2_ENST00000507069.1_Missense_Mutation_p.P436L P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 376 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGAAAGATTCGGGGCATAATT 0.418000 28 64 0 0 0.004656 0 0 SNHG14 104472715 broad.mit.edu 37 15 25326294 25326294 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:25326294G>A ENST00000549804.2 + 0 1434 CATCTTGTGTGATCCTTGGAG 0.502000 3 3 0 0 0.004672 0 0 OR9K2 441639 broad.mit.edu 37 12 55523961 55523961 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:55523961G>A ENST00000305377.5 + 1 497 c.409G>A c.(409-411)Gga>Aga p.G137R NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 TGTGACTGAGGGATTTCTCCT 0.498000 19 274 0 0 0.007413 0 0 CDH9 1007 broad.mit.edu 37 5 26903766 26903766 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:26903766C>A ENST00000231021.4 - 6 1151 c.979G>T c.(979-981)Ggg>Tgg p.G327W NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 327 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GTTATAATCCCTTCCTGTGTA 0.403000 27 150 2.61193e-14 4.24638e-14 0.001786 1 0 ZNF324B 388569 broad.mit.edu 37 19 58967057 58967057 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:58967057C>T ENST00000391696.1 + 3 1648 c.716C>T c.(715-717)gCt>gTt p.A239V ZNF324B_ENST00000336614.4_Missense_Mutation_p.A249V|ZNF324B_ENST00000545523.1_Missense_Mutation_p.A249V Q6AW86 Z324B_HUMAN zinc finger protein 324B 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CTGGGCGAGGCTCTTCACGCT 0.642000 6 30 0 0 0.000673 0 0 STC2 8614 broad.mit.edu 37 5 172750263 172750263 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:172750263C>T ENST00000265087.4 - 3 1774 c.465G>A c.(463-465)gtG>gtA p.V155V STC2_ENST00000520593.1_5'UTR NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 155 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCTCCACTATCACCCGGGTGT 0.612000 9 31 0 0 0.000673 0 0 KIAA1217 56243 broad.mit.edu 37 10 24721977 24721977 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:24721977G>A ENST00000376454.3 + 4 637 c.607G>A c.(607-609)Gaa>Aaa p.E203K KIAA1217_ENST00000376452.3_Missense_Mutation_p.E203K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E203K|KIAA1217_ENST00000430453.2_Missense_Mutation_p.E124K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E123K NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 203 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GATGCCGAATGAAATCACAAG 0.483000 9 14 0 0 0.001855 0 0 LHFPL5 222662 broad.mit.edu 37 6 35773458 35773458 + Nonsense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:35773458T>A ENST00000360215.1 + 1 388 c.11T>A c.(10-12)tTg>tAg p.L4* LHFPL5_ENST00000373853.1_Nonsense_Mutation_p.L4* NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 4 integral to membrane endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 ATGGTGAAATTGCTGCCGGCC 0.622000 16 44 0 0 0.007413 0 0 CPEB4 80315 broad.mit.edu 37 5 173372032 173372032 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:173372032C>T ENST00000265085.5 + 5 2799 c.1345C>T c.(1345-1347)Ctt>Ttt p.L449F CPEB4_ENST00000334035.5_Missense_Mutation_p.L432F|CPEB4_ENST00000522336.1_Missense_Mutation_p.L59F|CPEB4_ENST00000517880.1_Missense_Mutation_p.L42F|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.L424F|CPEB4_ENST00000519835.1_Missense_Mutation_p.L424F NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 449 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGATCAGCCTCTTCATAGTGG 0.478000 38 85 0 0 0.005524 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138714513 138714513 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:138714513G>A ENST00000389532.4 - 11 2058 c.1994C>T c.(1993-1995)aCc>aTc p.T665I CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T387I|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T676I NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 665 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TCCTGTCTCGGTGGGGTCGAT 0.582000 18 13 0 0 0.004990 0 0 NOBOX 135935 broad.mit.edu 37 7 144098156 144098156 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:144098156C>T ENST00000467773.1 - 4 826 c.827G>A c.(826-828)cGa>cAa p.R276Q NOBOX_ENST00000223140.5_Missense_Mutation_p.R191Q|NOBOX_ENST00000483238.1_Missense_Mutation_p.R276Q NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 276 cell differentiation|oogenesis nucleus sequence-specific DNA binding p.R276Q(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) GTATAGGGTTCGTGTCTTTTT 0.542000 43 5 0 0 0.003610 0 0 NDRG2 57447 broad.mit.edu 37 14 21490298 21490298 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:21490298C>T ENST00000556147.1 - 5 1207 c.267G>A c.(265-267)caG>caA p.Q89Q NDRG2_ENST00000397858.1_Silent_p.Q89Q|NDRG2_ENST00000298687.5_Silent_p.Q89Q|NDRG2_ENST00000397847.2_Silent_p.Q89Q|NDRG2_ENST00000553503.1_Silent_p.Q75Q|NDRG2_ENST00000554143.1_Silent_p.Q75Q|NDRG2_ENST00000403829.3_Silent_p.Q85Q|NDRG2_ENST00000555158.1_Silent_p.Q75Q|NDRG2_ENST00000360463.3_Silent_p.Q75Q|NDRG2_ENST00000397855.3_Silent_p.Q75Q|NDRG2_ENST00000397856.3_Silent_p.Q75Q|NDRG2_ENST00000397851.2_Silent_p.Q89Q|NDRG2_ENST00000397853.3_Silent_p.Q89Q|NDRG2_ENST00000397844.2_Silent_p.Q75Q|NDRG2_ENST00000298684.5_Silent_p.Q75Q|NDRG2_ENST00000350792.3_Silent_p.Q75Q|NDRG2_ENST00000554104.1_Silent_p.Q2Q Q9UN36 NDRG2_HUMAN NDRG family member 2 89 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) GAATGATTTCCTGCATGTCCT 0.493000 43 38 0 0 0.002522 0 0 ADCK4 79934 broad.mit.edu 37 19 41208578 41208578 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:41208578G>A ENST00000324464.3 - 10 1121 c.820C>T c.(820-822)Ctg>Ttg p.L274L ADCK4_ENST00000243583.6_Silent_p.L233L|ADCK4_ENST00000450541.1_Silent_p.L233L NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 274 Protein kinase. integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) AAGGCCTGCAGGCTCTGCTCG 0.642000 OREG0025476 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 47 0 0 0.001216 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40843839 40843839 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:40843839C>T ENST00000264638.4 + 16 2577 c.2360C>T c.(2359-2361)aCc>aTc p.T787I CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 787 Fibrinogen C-terminal. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) TCCTGGAACACCATTTCCTTC 0.577000 190 240 0 0 0.003610 0 0 GNA15 2769 broad.mit.edu 37 19 3155833 3155833 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:3155833C>T ENST00000262958.3 + 5 885 c.627C>T c.(625-627)gtC>gtT p.V209V NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 209 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) TCGTGGACGTCGGGGGCCAGA 0.577000 16 33 0 0 0.006122 0 0 KCNN3 3782 broad.mit.edu 37 1 154705554 154705554 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:154705554G>A ENST00000271915.3 - 4 1830 c.1515C>T c.(1513-1515)ttC>ttT p.F505F KCNN3_ENST00000361147.4_Silent_p.F200F|KCNN3_ENST00000358505.2_Silent_p.F192F NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 510 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) CAATGGAAAGGAATGTGATGG 0.522000 51 29 0 0 0.003610 0 0 ZNF438 220929 broad.mit.edu 37 10 31134208 31134208 + Nonsense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:31134208A>T ENST00000538351.1 - 8 2776 c.2022T>A c.(2020-2022)tgT>tgA p.C674* ZNF438_ENST00000436087.2_Nonsense_Mutation_p.C723*|ZNF438_ENST00000361310.3_Nonsense_Mutation_p.C723*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.C723*|ZNF438_ENST00000375311.1_Nonsense_Mutation_p.C287*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.C713*|ZNF438_ENST00000452305.1_Nonsense_Mutation_p.C713*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.C713*|ZNF438_ENST00000413025.1_Nonsense_Mutation_p.C723* NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 723 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TCAGTCTTGGACATGCATGTG 0.527000 21 16 0 0 0.001882 0 0 TLL1 7092 broad.mit.edu 37 4 167021925 167021925 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:167021925C>T ENST00000061240.2 + 21 3586 c.2939C>T c.(2938-2940)tCa>tTa p.S980L TLL1_ENST00000507499.1_Missense_Mutation_p.S1003L NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 980 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ATTGGAGATTCAGTTTTAATT 0.323000 59 49 0 0 0.003610 0 0 VSIG10 54621 broad.mit.edu 37 12 118520187 118520187 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:118520187G>A ENST00000359236.5 - 3 685 c.409C>T c.(409-411)Ccc>Tcc p.P137S VSIG10_ENST00000536905.1_5'UTR NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 137 Ig-like C2-type 2. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 GTGCCGTTGGGGAGTGTGCCG 0.597000 33 7 0 0 0.002445 0 0 KRT33A 3883 broad.mit.edu 37 17 39506774 39506774 + Silent SNP C C T rs61736449 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:39506774C>T ENST00000007735.3 - 1 290 c.246G>A c.(244-246)gcG>gcA p.A82A NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 82 Coil 1A.|Rod. A -> T (in Ref. 3; BAG36784). intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) TCTCCAGCTCCGCGTTGTCCC 0.602000 47 47 0 0 0.003610 0 0 RP11-535M15.2 0 broad.mit.edu 37 9 99489118 99489118 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:99489118C>T ENST00000602289.1 + 0 107 CCAAGTGAGTCCTGGGTGGAG 0.448000 19 10 0 0 0.001882 0 0 BEST3 144453 broad.mit.edu 37 12 70048710 70048710 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:70048710C>T ENST00000330891.5 - 10 2210 c.1984G>A c.(1984-1986)Gaa>Aaa p.E662K BEST3_ENST00000553096.1_Missense_Mutation_p.E556K|BEST3_ENST00000488961.1_Missense_Mutation_p.E449K|BEST3_ENST00000331471.4_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 662 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TCCTCAGTTTCCTTGTTCAGC 0.453000 15 139 0 0 0.004990 0 0 GCOM1 145781 broad.mit.edu 37 15 58006751 58006751 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:58006751C>T ENST00000380568.3 + 13 1324 c.1322C>T c.(1321-1323)tCg>tTg p.S441L GCOM1_ENST00000587652.1_Silent_p.L724L|GCOM1_ENST00000380569.2_Silent_p.L509L|GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380563.2_Intron|POLR2M_ENST00000380557.4_Silent_p.L170L|POLR2M_ENST00000299638.3_Silent_p.L327L NM_001018091.4 NP_001018101.1 P0CAP1 GCOM1_HUMAN 49 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 AAGCAAAGCTCGCAGCGCAAA 0.398000 38 58 0 0 0.006230 0 0 HNF4G 3174 broad.mit.edu 37 8 76470902 76470902 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:76470902C>A ENST00000396423.2 + 7 977 c.853C>A c.(853-855)Cca>Aca p.P285T HNF4G_ENST00000354370.1_Missense_Mutation_p.P248T NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 248 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) ATTTTTTGATCCAGGTTGGTT 0.303000 48 57 1.72845e-40 2.82521e-40 0.003610 1 0 COL3A1 1281 broad.mit.edu 37 2 189855751 189855751 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:189855751G>A ENST00000304636.3 + 11 990 c.820G>A c.(820-822)Gaa>Aaa p.E274K COL3A1_ENST00000317840.5_Missense_Mutation_p.E274K NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 274 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ACGAAATGGAGAAAAGGGTGA 0.284000 27 60 0 0 0.004289 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52132744 52132744 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:52132744G>A ENST00000222107.4 - 3 705 c.567C>T c.(565-567)gaC>gaT p.D189D SIGLEC5_ENST00000429354.3_Silent_p.D189D|SIGLEC5_ENST00000599649.1_Silent_p.D189D|SIGLEC5_ENST00000570106.2_Silent_p.D189D|SIGLEC5_ENST00000534261.2_Silent_p.D189D O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 189 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TGGTCTCGGGGTCCAGGGGGC 0.657000 12 6 0 0 0.006122 0 0 WNK4 65266 broad.mit.edu 37 17 40946635 40946635 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:40946635G>A ENST00000246914.5 + 13 2320 c.2299G>A c.(2299-2301)Gag>Aag p.E767K NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 767 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GCCTCAGGAGGAGCCAGCACC 0.577000 10 16 0 0 0.000673 0 0 LMX1A 4009 broad.mit.edu 37 1 165322368 165322368 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:165322368C>T ENST00000342310.3 - 3 590 c.208G>A c.(208-210)Gag>Aag p.E70K LMX1A_ENST00000294816.2_Missense_Mutation_p.E70K|LMX1A_ENST00000367893.4_Missense_Mutation_p.E70K NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 70 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CAGGTGGTCTCCAGGGGCTCT 0.612000 63 26 0 0 0.003610 0 0 MUC7 4589 broad.mit.edu 37 4 71347503 71347503 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:71347503A>G ENST00000413702.1 + 4 1330 c.1042A>G c.(1042-1044)Act>Gct p.T348A MUC7_ENST00000456088.1_Missense_Mutation_p.T348A|MUC7_ENST00000304887.5_Missense_Mutation_p.T348A NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 348 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) TAAACAACCAACTTCAGCTCC 0.388000 26 33 0 0 0.003954 0 0 ISM1 140862 broad.mit.edu 37 20 13280026 13280026 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:13280026C>T ENST00000262487.3 + 6 1321 c.1315C>T c.(1315-1317)Ccc>Tcc p.P439S TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 439 AMOP. extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 GGCCCGGCCTCCCAACAACGG 0.567000 16 38 0 0 0.004007 0 0 ATF6B 1388 broad.mit.edu 37 6 32095928 32095928 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32095928G>T ENST00000375201.4 - 1 102 c.57C>A c.(55-57)gaC>gaA p.D19E ATF6B_ENST00000375203.3_Missense_Mutation_p.D19E|ATF6B_ENST00000468502.1_5'UTR Q99941 ATF6B_HUMAN activating transcription factor 6 beta 19 Transcription activation. response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TAAGCAGGTTGTCGGTGAAGA 0.652000 115 222 1.14069e-62 1.86541e-62 0.003610 1 0 CYP1A2 1544 broad.mit.edu 37 15 75044490 75044490 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:75044490G>A ENST00000343932.4 + 5 1131 c.1068G>A c.(1066-1068)cgG>cgA p.R356R NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 356 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GGGAGCGGCGGCCCCGGCTCT 0.592000 73 73 0 0 0.003610 0 0 TECPR2 9895 broad.mit.edu 37 14 102891506 102891506 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:102891506C>T ENST00000359520.7 + 6 1055 c.829C>T c.(829-831)Ccc>Tcc p.P277S TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.P277S NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 277 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 TCTGGAATCCCCCAACAGTGG 0.493000 47 18 0 0 0.003610 0 0 FRMPD4 9758 broad.mit.edu 37 X 12735781 12735781 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:12735781C>T ENST00000380682.1 + 16 3342 c.2836C>T c.(2836-2838)Ctt>Ttt p.L946F NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 946 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CTACCACCCCCTTGCAGAAGA 0.587000 33 69 0 0 0.005524 0 0 PIGQ 9091 broad.mit.edu 37 16 624464 624464 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:624464C>T ENST00000321878.5 + 2 549 c.390C>T c.(388-390)ttC>ttT p.F130F PIGQ_ENST00000409527.2_Silent_p.F130F|PIGQ_ENST00000470411.2_Silent_p.F130F|PIGQ_ENST00000026218.5_Silent_p.F130F NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 130 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) TGCTCATCTTCTATGACCAGC 0.697000 3 12 0 0 0.004672 0 0 DUOX2 50506 broad.mit.edu 37 15 45398341 45398341 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:45398341G>A ENST00000389039.6 - 17 2515 c.2130C>T c.(2128-2130)atC>atT p.I710I DUOX2_ENST00000603300.1_Silent_p.I710I Q9NRD8 DUOX2_HUMAN dual oxidase 2 710 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) ACTCCTTAGGGATCTTGAGCA 0.597000 16 12 0 0 0.007413 0 0 THG1L 54974 broad.mit.edu 37 5 157161590 157161590 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:157161590C>T ENST00000599823.1 - 2 135 c.136G>A c.(136-138)Gaa>Aaa p.E46K THG1L_ENST00000231198.7_Silent_p.F125F CAAGTAAGTTCATGACTCACG 0.458000 45 155 0 0 0.003610 0 0 DOCK11 139818 broad.mit.edu 37 X 117680003 117680003 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:117680003C>T ENST00000276204.6 + 6 556 c.482C>T c.(481-483)tCt>tTt p.S161F DOCK11_ENST00000276202.7_Missense_Mutation_p.S161F Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 161 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TCTTTATGTTCTCAGAAGGGT 0.363000 37 6 0 0 0.006230 0 0 MIR523 574471 broad.mit.edu 37 19 54201701 54201701 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:54201701C>T ENST00000385281.1 + 0 63 NR_030193.1 GAACGCGCTTCCCTATAGAGG 0.443000 13 46 0 0 0.002450 0 0 NINL 22981 broad.mit.edu 37 20 25442247 25442247 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:25442247C>T ENST00000278886.6 - 21 3680 c.3607G>A c.(3607-3609)Gtt>Att p.V1203I NINL_ENST00000422516.1_Missense_Mutation_p.V854I NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1203 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TCAAGTTCAACTCTAAGTTTT 0.438000 36 32 0 0 0.006230 0 0 FXYD3 5349 broad.mit.edu 37 19 35614187 35614187 + Silent SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:35614187G>T ENST00000435734.2 + 8 559 c.300G>T c.(298-300)ggG>ggT p.G100G FXYD3_ENST00000406988.1_Silent_p.G74G|FXYD3_ENST00000344013.6_Silent_p.G74G|FXYD3_ENST00000346446.5_Silent_p.G100G|FXYD3_ENST00000604621.1_Silent_p.G74G|FXYD3_ENST00000604804.1_Silent_p.G103G|FXYD3_ENST00000604404.1_Silent_p.G74G|FXYD3_ENST00000603524.1_Silent_p.G103G|FXYD3_ENST00000603181.1_Silent_p.G74G|FXYD3_ENST00000604255.1_Silent_p.G131G|FXYD3_ENST00000535103.1_Silent_p.G131G|FXYD3_ENST00000605677.1_3'UTR NM_001136011.1|NM_021910.2 NP_001129483.1|NP_068710.1 Q14802 FXYD3_HUMAN FXYD domain containing ion transport regulator 3 74 chloride channel complex|integral to plasma membrane chloride channel activity endometrium(1)|lung(2)|prostate(1) 4 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) ACCATCCAGGGGAGACTCCAC 0.562000 15 25 3.41278e-10 5.53218e-10 0.004990 1 0 SLC6A16 28968 broad.mit.edu 37 19 49796617 49796617 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:49796617G>A ENST00000454748.3 - 10 1842 c.1641C>T c.(1639-1641)ttC>ttT p.F547F SLC6A16_ENST00000335875.4_Silent_p.F547F Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 547 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) GGCCGCACACGAACATGAGCA 0.498000 11 10 0 0 0.000673 0 0 EP400 57634 broad.mit.edu 37 12 132474601 132474601 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:132474601C>T ENST00000333577.4 + 9 2719 c.2610C>T c.(2608-2610)gcC>gcT p.A870A EP400_ENST00000389561.2_Silent_p.A834A|EP400_ENST00000332482.4_Silent_p.A797A|EP400_ENST00000389562.2_Silent_p.A833A|EP400_ENST00000330386.6_Silent_p.A834A Q96L91 EP400_HUMAN E1A binding protein p400 870 HSA. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGCGGATAGCCGCCTCCACGG 0.562000 26 48 0 0 0.004656 0 0 ZFAND4 93550 broad.mit.edu 37 10 46143839 46143839 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:46143839C>T ENST00000374366.3 - 6 715 c.250G>A c.(250-252)Gat>Aat p.D84N ZFAND4_ENST00000344646.5_Missense_Mutation_p.D158N|ZFAND4_ENST00000374371.2_Missense_Mutation_p.D158N|ZFAND4_ENST00000374370.1_5'UTR Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 158 Ubiquitin-like. zinc ion binding TCTCCCCTATCTACTGCAGGA 0.408000 36 48 0 0 0.002522 0 0 REG4 83998 broad.mit.edu 37 1 120345526 120345526 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:120345526G>A ENST00000369401.4 - 3 595 c.330C>T c.(328-330)ttC>ttT p.F110F REG4_ENST00000256585.5_Intron|REG4_ENST00000530654.1_Intron|REG4_ENST00000354219.1_Intron NM_001159353.1 NP_001152825.1 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 0 C-type lectin. extracellular region sugar binding central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) ttacagaattgaatgagtTGA 0.483000 152 237 0 0 0.003610 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935417 151935417 + Silent SNP G G A rs149076914 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:151935417G>A ENST00000393902.3 - 3 1317 c.750C>T c.(748-750)ttC>ttT p.F250F MAGEA3_ENST00000370278.3_Silent_p.F250F P43357 MAGA3_HUMAN melanoma antigen family A, 3 250 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCTGCACGAAATGTTGGG 0.537000 51 57 0 0 0.003610 0 0 PTPN13 5783 broad.mit.edu 37 4 87691040 87691040 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:87691040C>T ENST00000436978.1 + 29 5103 c.4623C>T c.(4621-4623)ctC>ctT p.L1541L PTPN13_ENST00000427191.2_Silent_p.L1517L|PTPN13_ENST00000411767.2_Silent_p.L1536L|PTPN13_ENST00000316707.6_Silent_p.L1345L|PTPN13_ENST00000511467.1_Silent_p.L1541L NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1536 PDZ 3. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TTAAAAAGCTCTTTCCTGGAC 0.383000 38 20 0 0 0.006999 0 0 XIRP2 129446 broad.mit.edu 37 2 168102690 168102690 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:168102690G>A ENST00000409195.1 + 9 4877 c.4788G>A c.(4786-4788)caG>caA p.Q1596Q XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q1374Q|XIRP2_ENST00000295237.9_Silent_p.Q1596Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1421 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTGAGATACAGAAAGAAGAAA 0.383000 11 17 0 0 0.000978 0 0 OR5D13 390142 broad.mit.edu 37 11 55541558 55541558 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:55541558C>T ENST00000361760.1 + 1 645 c.645C>T c.(643-645)atC>atT p.I215I NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) GCCTAATTATCATTCTGACAT 0.438000 22 71 0 0 0.002299 0 0 NOTCH4 4855 broad.mit.edu 37 6 32168713 32168713 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32168713C>T ENST00000375023.3 - 23 4348 c.4210G>A c.(4210-4212)Gac>Aac p.D1404N NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1404 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGCCCAGGGTCCCAGGGACAG 0.642000 58 302 0 0 0.003610 0 0 DSG1 1828 broad.mit.edu 37 18 28934722 28934722 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:28934722G>A ENST00000257192.4 + 15 2775 c.2563G>A c.(2563-2565)Gat>Aat p.D855N RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.D214N|RP11-534N16.1_ENST00000581452.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 855 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GCACGTTCACGATAACCGACC 0.517000 66 64 0 0 0.003610 0 0 SNRNP200 23020 broad.mit.edu 37 2 96950252 96950252 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:96950252G>A ENST00000323853.5 - 31 4313 c.4236C>T c.(4234-4236)acC>acT p.T1412T SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1412 Helicase ATP-binding 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 GGTCTGTGCTGGTCTCGCCTG 0.557000 44 45 0 0 0.003214 0 0 BTG3 10950 broad.mit.edu 37 21 18966434 18966434 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:18966434G>A ENST00000339775.6 - 6 1021 c.868C>T c.(868-870)Cct>Tct p.P290S BTG3_ENST00000348354.6_Missense_Mutation_p.P246S NM_001130914.1 NP_001124386.1 Q14201 BTG3_HUMAN BTG family, member 3 246 negative regulation of cell proliferation|negative regulation of mitotic cell cycle cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 8 Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971) AACATGTGAGGATTAATCCAG 0.378000 11 24 0 0 0.000978 0 0 CNTN5 53942 broad.mit.edu 37 11 100061878 100061878 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:100061878G>A ENST00000524871.1 + 14 1891 c.1601G>A c.(1600-1602)gGg>gAg p.G534E CNTN5_ENST00000528682.1_Missense_Mutation_p.G534E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G460E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G534E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G534E NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 534 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding p.G534V(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTTCCAGACGGGAGTCTACGG 0.368000 13 28 0 0 0.002450 0 0 RAB9BP1 9366 broad.mit.edu 37 5 104435745 104435745 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:104435745G>A ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA TGACTTCATCGAAACCATTGG 0.413000 4 3 0 0 0.000248 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6263964 6263964 + Silent SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:6263964A>G ENST00000400104.3 - 5 401 c.201T>C c.(199-201)ccT>ccC p.P67P L3MBTL4_ENST00000400105.2_Silent_p.P67P|L3MBTL4_ENST00000317931.7_Silent_p.P67P|L3MBTL4_ENST00000284898.6_Silent_p.P67P Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 67 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) ACAGCTCAACAGGTGCTGCGA 0.443000 53 12 0 0 0.003610 0 0 ZNF713 349075 broad.mit.edu 37 7 56006825 56006825 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:56006825C>T ENST00000429591.2 + 4 457 c.419C>T c.(418-420)cCa>cTa p.P140L MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GATTACCATCCAGAGTTTAAC 0.408000 9 53 0 0 0.000673 0 0 PSG4 5672 broad.mit.edu 37 19 43702150 43702150 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:43702150G>A ENST00000405312.3 - 3 945 c.709_splice c.e3+1 p.L236_splice PSG4_ENST00000244295.9_Splice_Site_p.L236_splice|PSG4_ENST00000433626.2_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 236 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GATACTCACGGAGGAGATTCA 0.522000 49 156 0 0 0.003610 0 0 GRM4 2914 broad.mit.edu 37 6 34003929 34003929 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:34003929G>A ENST00000374181.3 - 8 2127 c.1958C>T c.(1957-1959)tCg>tTg p.S653L GRM4_ENST00000455714.2_Missense_Mutation_p.S513L|GRM4_ENST00000545715.1_Missense_Mutation_p.S345L|GRM4_ENST00000374177.3_Missense_Mutation_p.S537L|GRM4_ENST00000535756.1_Missense_Mutation_p.S520L|GRM4_ENST00000544773.1_Missense_Mutation_p.S484L|GRM4_ENST00000538487.1_Missense_Mutation_p.S653L NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 653 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TCGGCGCAGCGAGCAGGTGCC 0.612000 46 37 0 0 0.003610 0 0 LPPR1 54886 broad.mit.edu 37 9 104032177 104032177 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:104032177G>A ENST00000374874.3 + 3 518 c.79G>A c.(79-81)Ggg>Agg p.G27R LPPR1_ENST00000395056.2_Missense_Mutation_p.G27R NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 27 integral to membrane catalytic activity CATCATGGCTGGGACAGTGCT 0.522000 11 28 0 0 0.001368 0 0 MCCD1 401250 broad.mit.edu 37 6 31497668 31497668 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:31497668G>A ENST00000376191.2 + 2 614 c.316G>A c.(316-318)Gaa>Aaa p.E106K NM_001011700.2 NP_001011700.2 P59942 MCCD1_HUMAN mitochondrial coiled-coil domain 1 106 mitochondrion skin(1) 1 GAAGCTGAAGGAACAGATGAG 0.617000 3 8 0 0 0.004672 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524125 24524125 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:24524125G>A ENST00000376862.3 + 2 1025 c.392G>A c.(391-393)gGg>gAg p.G131E NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 131 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 TACCCGGATGGGAAGTTCATT 0.597000 60 117 0 0 0.003610 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290915 141290915 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:141290915G>A ENST00000247452.3 - 3 1206 c.859C>T c.(859-861)Cgg>Tgg p.R287W NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 287 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GGCACCTCCCGATACTCCAGG 0.502000 HNSCC(46;0.14) 22 31 0 0 0.001523 0 0 GABRA5 2558 broad.mit.edu 37 15 27193130 27193130 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:27193130G>A ENST00000335625.5 + 11 2027 c.1139G>A c.(1138-1140)gGg>gAg p.G380E GABRA5_ENST00000400081.3_Missense_Mutation_p.G380E|GABRA5_ENST00000355395.5_Missense_Mutation_p.G380E NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 380 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTACAACTGGGAAGATGTCT 0.438000 8 4 0 0 0.003080 0 0 FRY 10129 broad.mit.edu 37 13 32735336 32735336 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:32735336C>T ENST00000380250.3 + 17 2336 c.1840C>T c.(1840-1842)Cga>Tga p.R614* NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 614 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGCTATTCCTCGACTGCTTCC 0.368000 21 38 0 0 0.002299 0 0 POM121 9883 broad.mit.edu 37 7 72413666 72413666 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:72413666C>T ENST00000395270.1 + 14 3380 c.2339C>T c.(2338-2340)tCg>tTg p.S780L POM121_ENST00000434423.2_Missense_Mutation_p.S1045L|POM121_ENST00000446813.1_Missense_Mutation_p.S780L|POM121_ENST00000257622.4_Missense_Mutation_p.S780L|POM121_ENST00000358357.3_Missense_Mutation_p.S780L NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1045 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GCCACGGCTTCGGCCTTCGGC 0.647000 32 127 0 0 0.002836 0 0 PALD1 27143 broad.mit.edu 37 10 72291163 72291163 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:72291163G>A ENST00000263563.6 + 5 854 c.586G>A c.(586-588)Gga>Aga p.G196R NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 CCAGGGCCTTGGACCCGGGGT 0.617000 15 35 0 0 0.004990 0 0 GPI 2821 broad.mit.edu 37 19 34856261 34856261 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:34856261C>T ENST00000415930.3 + 2 377 c.207C>T c.(205-207)ttC>ttT p.F69F GPI_ENST00000356487.5_Silent_p.F30F|GPI_ENST00000586425.1_Silent_p.F30F NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 30 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) GCCGCCTCTTCGATGCCAACA 0.716000 5 23 0 0 0.001168 0 0 COL22A1 169044 broad.mit.edu 37 8 139628273 139628273 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:139628273G>A ENST00000303045.6 - 55 4341 c.3895C>T c.(3895-3897)Cct>Tct p.P1299S COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1279S NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1299 Collagen-like 12.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCCTGACCAGGAAGCCCCATG 0.572000 HNSCC(7;0.00092) 36 22 0 0 0.002222 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307214 39307214 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:39307214G>A ENST00000541347.1 - 2 1026 c.787C>T c.(787-789)Ccc>Tcc p.P263S CX3CR1_ENST00000542107.1_Missense_Mutation_p.P263S|CX3CR1_ENST00000358309.3_Missense_Mutation_p.P295S|CX3CR1_ENST00000399220.2_Missense_Mutation_p.P263S NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 263 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) TCACAACTGGGAAAGAAGTCA 0.463000 66 43 0 0 0.003610 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137343 40137343 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:40137343G>A ENST00000278198.2 - 2 2463 c.500C>T c.(499-501)gCt>gTt p.A167V LRRC4C_ENST00000530763.1_Missense_Mutation_p.A167V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A167V|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A167V Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 167 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TCTGTTAAAAGCATAAGAAGG 0.428000 13 41 0 0 0.002450 0 0 LMNA 4000 broad.mit.edu 37 1 156106056 156106056 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:156106056C>T ENST00000368300.4 + 7 1421 c.1209C>T c.(1207-1209)tcC>tcT p.S403S LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Silent_p.S403S|LMNA_ENST00000347559.2_Silent_p.S403S|LMNA_ENST00000473598.2_Silent_p.S304S|LMNA_ENST00000448611.2_Silent_p.S291S|LMNA_ENST00000368297.1_Silent_p.S322S|LMNA_ENST00000368299.3_Silent_p.S403S|LMNA_ENST00000392353.3_Silent_p.S322S|LMNA_ENST00000368301.2_Silent_p.S403S NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 403 Tail. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) GCCGTGCTTCCTCTCACTCAT 0.642000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 51 44 0 0 0.003610 0 0 EP300 2033 broad.mit.edu 37 22 41564798 41564798 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:41564798G>T ENST00000263253.7 + 25 5318 c.4099G>T c.(4099-4101)Gat>Tat p.D1367Y NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1367 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TGAAGAAATTGATGGTGTTGA 0.493000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 34 120 2.20474e-14 3.58525e-14 0.003755 1 0 KIAA1683 80726 broad.mit.edu 37 19 18368082 18368082 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:18368082G>A ENST00000392413.3 - 4 4227 c.4012C>T c.(4012-4014)Cat>Tat p.H1338Y KIAA1683_ENST00000600328.2_Missense_Mutation_p.H1151Y|KIAA1683_ENST00000600359.2_Missense_Mutation_p.H1105Y NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 141 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CTCCGGGTATGGTGGCCTCGC 0.612000 45 15 0 0 0.003610 0 0 ABCD4 5826 broad.mit.edu 37 14 74766262 74766262 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:74766262G>A ENST00000356924.4 - 3 417 c.274C>T c.(274-276)Ctg>Ttg p.L92L ABCD4_ENST00000557554.1_5'UTR|ABCD4_ENST00000557588.1_Silent_p.L92L|ABCD4_ENST00000298816.7_Silent_p.L5L NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 92 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) GTGGAGTTCAGAACAATGAGC 0.512000 18 14 0 0 0.006122 0 0 ZNF709 163051 broad.mit.edu 37 19 12575350 12575350 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:12575350G>A ENST00000397732.3 - 4 1557 c.1386C>T c.(1384-1386)tcC>tcT p.S462S CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.S462S NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 GCATTCGAAAGGAACTGGAAC 0.398000 36 85 0 0 0.004878 0 0 ZNF285 26974 broad.mit.edu 37 19 44891833 44891833 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:44891833G>A ENST00000330997.4 - 4 638 c.574C>T c.(574-576)Cat>Tat p.H192Y ZNF285_ENST00000591679.1_Missense_Mutation_p.H199Y|ZNF285_ENST00000544719.2_Missense_Mutation_p.H192Y|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 GACTCATGATGATCACATGAG 0.458000 24 73 0 0 0.003330 0 0 IL21 59067 broad.mit.edu 37 4 123534028 123534028 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:123534028C>T ENST00000264497.3 - 4 473 c.416G>A c.(415-417)aGa>aAa p.R139K NM_001207006.2|NM_021803.3 NP_001193935.1|NP_068575.1 Q9HBE4 IL21_HUMAN interleukin 21 132 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 TGATTTGAATCTTTCTAGGAA 0.313000 7 13 0 0 0.004482 0 0 FOXD4 2298 broad.mit.edu 37 9 117682 117682 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:117682G>A ENST00000382500.2 - 1 735 c.438C>T c.(436-438)ccC>ccT p.P146P NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 146 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) TCTGCCAGGCGGGGAACTTGC 0.642000 35 77 0 0 0.003214 0 0 LPL 4023 broad.mit.edu 37 8 19811737 19811737 + Silent SNP C C T rs140457997 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:19811737C>T ENST00000311322.8 + 5 1118 c.648C>T c.(646-648)tcC>tcT p.S216S NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 216 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) CCAGAGGGTCCCCTGGTCGAA 0.478000 29 13 0 0 0.001512 0 0 ZNF560 147741 broad.mit.edu 37 19 9578989 9578989 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9578989C>T ENST00000301480.4 - 10 847 c.634G>A c.(634-636)Gaa>Aaa p.E212K NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TCATAGAGTTCCTCTCCATTT 0.363000 14 33 0 0 0.002450 0 0 RALGDS 5900 broad.mit.edu 37 9 135985089 135985089 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:135985089G>A ENST00000393160.3 - 4 696 c.343C>T c.(343-345)Ctc>Ttc p.L115F RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000542690.1_Missense_Mutation_p.L241F|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000372050.3_Missense_Mutation_p.L170F|RALGDS_ENST00000393157.3_Missense_Mutation_p.L169F NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 170 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) GAGGCCGTGAGGGCGTCACAT 0.527000 T CIITA """PMBL, Hodgkin Lymphona, """ 15 43 0 0 0.004007 0 0 DNAH8 1769 broad.mit.edu 37 6 38913246 38913246 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:38913246G>A ENST00000359357.3 + 78 11614 c.11360G>A c.(11359-11361)gGa>gAa p.G3787E DNAH8_ENST00000449981.2_Missense_Mutation_p.G4004E|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.G3751E dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCCCCAGGGGGAGCAGCTCTG 0.453000 23 74 0 0 0.003330 0 0 FRG1B 284802 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 4 69 0 0 0.000602 0 0 CREB3L3 84699 broad.mit.edu 37 19 4154950 4154950 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:4154950C>T ENST00000078445.2 + 2 229 c.82C>T c.(82-84)Ctc>Ttc p.L28F CREB3L3_ENST00000252587.3_Missense_Mutation_p.L19F|CREB3L3_ENST00000602257.1_Missense_Mutation_p.L28F|CREB3L3_ENST00000595923.1_Missense_Mutation_p.L28F|CREB3L3_ENST00000602147.1_Missense_Mutation_p.L28F NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 28 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCCTGGATCTCCTGTTTGA 0.627000 25 85 0 0 0.005443 0 0 KLF6 1316 broad.mit.edu 37 10 3823999 3823999 + Silent SNP G G A rs1062673 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:3823999G>A ENST00000497571.1 - 2 770 c.510C>T c.(508-510)ccC>ccT p.P170P KLF6_ENST00000469435.1_Silent_p.P170P|KLF6_ENST00000542957.1_Silent_p.P170P|KLF6_ENST00000173785.4_5'UTR NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 170 B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) TCCCTGGCGAGGGCAGCTCCC 0.647000 OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 7 0 0 0.002299 0 0 BRINP3 339479 broad.mit.edu 37 1 190068135 190068135 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:190068135G>A ENST00000367462.3 - 8 1545 c.1314C>T c.(1312-1314)ttC>ttT p.F438F FAM5C_ENST00000534846.1_Silent_p.F336F|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 438 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGCAGGGCAGGAACGCGGTGC 0.607000 10 39 0 0 0.006214 0 0 RGCC 28984 broad.mit.edu 37 13 42041041 42041041 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:42041041C>T ENST00000379359.3 + 3 467 c.318C>T c.(316-318)ctC>ctT p.L106L RGCC_ENST00000487837.1_3'UTR NM_014059.2 NP_054778.2 Q9H4X1 RGC32_HUMAN regulator of cell cycle 106 Ser/Thr-rich. cell cycle|regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus CAGCTCTTCTCTCTGCCACTG 0.413000 37 51 0 0 0.003610 0 0 RHBDD2 57414 broad.mit.edu 37 7 75517587 75517587 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:75517587C>T ENST00000318622.4 + 5 1221 c.592C>T c.(592-594)Cct>Tct p.P198S RHBDD2_ENST00000428119.1_Missense_Mutation_p.P198S|RHBDD2_ENST00000006777.6_Missense_Mutation_p.P339S|RHBDD2_ENST00000468304.1_3'UTR NM_001040457.1 NP_001035547.1 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 339 integral to membrane serine-type endopeptidase activity kidney(1)|lung(4)|prostate(1) 6 TGTGAACAGCCCTGGCACGGT 0.622000 128 66 0 0 0.003610 0 0 ESF1 51575 broad.mit.edu 37 20 13695710 13695710 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:13695710G>A ENST00000202816.1 - 14 2474 c.2367C>T c.(2365-2367)atC>atT p.I789I NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 789 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 TCTCCTCAAGGATTTTTTCCA 0.403000 31 92 0 0 0.001512 0 0 SARS 6301 broad.mit.edu 37 1 109774338 109774338 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:109774338C>T ENST00000369923.4 + 6 688 c.677C>T c.(676-678)cCc>cTc p.P226L SARS_ENST00000234677.2_Missense_Mutation_p.P226L P49591 SYSC_HUMAN seryl-tRNA synthetase 226 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity p.P226L(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) ATTTATACCCCCTTTTTCATG 0.522000 180 327 0 0 0.003610 0 0 TMEM131 23505 broad.mit.edu 37 2 98392351 98392351 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:98392351G>A ENST00000186436.5 - 32 4503 c.4275C>T c.(4273-4275)acC>acT p.T1425T NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1425 Lys-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCTCTGTGGTGGTGGAGGAGC 0.517000 9 39 0 0 0.004482 0 0 SNHG14 104472715 broad.mit.edu 37 15 25488789 25488789 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:25488789C>T ENST00000453082.2 + 0 2332 SNORD115-40_ENST00000606510.1_RNA NR_003343.1 TTATATTTTCCTGAAGAGAGG 0.512000 158 156 0 0 0.003610 0 0 OR5R1 219479 broad.mit.edu 37 11 56184763 56184763 + Missense_Mutation SNP T T G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:56184763T>G ENST00000312253.1 - 1 945 c.946A>C c.(946-948)Aca>Cca p.T316P NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 316 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) TTTAAAAATGTTAATATCTGT 0.299000 10 4 0 0 0.006214 0 0 ACE 1636 broad.mit.edu 37 17 61571734 61571734 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:61571734C>T ENST00000577647.1 + 11 1606 c.1559_splice c.e11-1 p.L521_splice ACE_ENST00000428043.1_Splice_Site_p.L1095_splice|ACE_ENST00000413513.3_Splice_Site_p.L521_splice|ACE_ENST00000290863.6_Splice_Site_p.L521_splice|ACE_ENST00000290866.4_Splice_Site_p.L1095_splice|ACE_ENST00000421982.2_Splice_Site_p.L341_splice|ACE_ENST00000490216.2_Splice_Site_p.L521_splice P12821 ACE_HUMAN angiotensin I converting enzyme 1095 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ACTCGACAGGCTGAAGTACCA 0.552000 9 20 0 0 0.000673 0 0 XKR4 114786 broad.mit.edu 37 8 56435966 56435966 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:56435966G>A ENST00000327381.5 + 3 1233 c.1133G>A c.(1132-1134)tGg>tAg p.W378* NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 378 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CAGTTCTGCTGGCACTTCTTC 0.572000 50 55 0 0 0.003610 0 0 FAM83A 84985 broad.mit.edu 37 8 124204148 124204148 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:124204148G>A ENST00000518448.1 + 3 2600 c.586G>A c.(586-588)Gga>Aga p.G196R FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Missense_Mutation_p.G196R|FAM83A_ENST00000318462.6_Missense_Mutation_p.G196R|FAM83A_ENST00000276699.6_Missense_Mutation_p.G196R|FAM83A_ENST00000522648.1_Intron Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 196 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CCTGGACCAGGGAGGTGTGAA 0.517000 78 83 0 0 0.003610 0 0 RP1 6101 broad.mit.edu 37 8 55537382 55537382 + Missense_Mutation SNP C C T rs72182715 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:55537382C>T ENST00000220676.1 + 4 1088 c.940C>T c.(940-942)Cct>Tct p.P314S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 314 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACCAATATATCCTTCTGAAGA 0.308000 13 37 0 0 0.001855 0 0 DACH2 117154 broad.mit.edu 37 X 86067880 86067880 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:86067880C>T ENST00000373131.1 + 7 1386 c.1223C>T c.(1222-1224)cCa>cTa p.P408L DACH2_ENST00000510272.1_Missense_Mutation_p.P202L|DACH2_ENST00000373125.4_Missense_Mutation_p.P421L|DACH2_ENST00000508860.1_Missense_Mutation_p.P254L|DACH2_ENST00000477378.2_3'UTR NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GTTCAAATTCCAATAATGAAG 0.443000 28 3 0 0 0.002445 0 0 FRMD6 122786 broad.mit.edu 37 14 52194676 52194676 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:52194676C>T ENST00000395718.2 + 14 2059 c.1774C>T c.(1774-1776)Cca>Tca p.P592S FRMD6_ENST00000356218.4_Missense_Mutation_p.P592S|FRMD6_ENST00000553556.1_Missense_Mutation_p.P242S|FRMD6_ENST00000554167.1_Missense_Mutation_p.P523S|FRMD6_ENST00000344768.5_Missense_Mutation_p.P600S NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 600 cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) AGATGCTTTTCCAGTCAAAAG 0.463000 11 16 0 0 0.000673 0 0 TTN 7273 broad.mit.edu 37 2 179532199 179532199 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179532199G>A ENST00000589042.1 - 161 35907 c.35683C>T c.(35683-35685)Cct>Tct p.P11895S TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10034 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTTTTTAGGAATAGTCACA 0.313000 6 13 0 0 0.001984 0 0 UQCC1 55245 broad.mit.edu 37 20 33891791 33891791 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:33891791G>A ENST00000374385.5 - 10 1024 c.847C>T c.(847-849)Cct>Tct p.P283S UQCC_ENST00000349714.5_Missense_Mutation_p.P256S|UQCC_ENST00000540457.1_Missense_Mutation_p.P128S|UQCC_ENST00000397556.3_Missense_Mutation_p.P184S|UQCC_ENST00000407996.2_Missense_Mutation_p.P146S|UQCC_ENST00000374377.5_Missense_Mutation_p.P171S|UQCC_ENST00000359226.2_Missense_Mutation_p.P203S|UQCC_ENST00000374384.2_Missense_Mutation_p.P257S|UQCC_ENST00000374380.2_Missense_Mutation_p.P215S NM_018244.4 NP_060714.3 Q9NVA1 UQCC_HUMAN 283 cytoplasmic membrane-bounded vesicle breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) ATGCTCTGAGGATTCTTCTCC 0.612000 OREG0025888 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 106 0 0 0.006999 0 0 PVRL4 81607 broad.mit.edu 37 1 161047418 161047418 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:161047418C>T ENST00000368012.3 - 3 857 c.555G>A c.(553-555)acG>acA p.T185T NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 185 Ig-like C2-type 1. T -> M (in EDSS1). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CTTTGACCTCCGTGTCCCAGG 0.637000 41 24 0 0 0.006999 0 0 DCC 1630 broad.mit.edu 37 18 50929217 50929217 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:50929217C>T ENST00000442544.2 + 19 3505 c.2889C>T c.(2887-2889)gtC>gtT p.V963V DCC_ENST00000412726.1_Silent_p.V791V|DCC_ENST00000581580.1_Silent_p.V598V NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 963 Fibronectin type-III 6. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTCGTGCCGTCATTGTGAGTT 0.512000 51 130 0 0 0.003610 0 0 PDGFRA 5156 broad.mit.edu 37 4 55139855 55139855 + Missense_Mutation SNP C C T rs142980928 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:55139855C>T ENST00000257290.5 + 10 1847 c.1516C>T c.(1516-1518)Ctc>Ttc p.L506F FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 506 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GGCTAAGAATCTCCTTGGAGC 0.592000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 21 33 0 0 0.003330 0 0 CTNNA1 1495 broad.mit.edu 37 5 138253548 138253548 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:138253548G>A ENST00000302763.7 + 11 1597 c.1507G>A c.(1507-1509)Gat>Aat p.D503N CTNNA1_ENST00000355078.5_Missense_Mutation_p.D400N|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D503N|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D133N NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 503 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGATGCTGTCGATGACATTAC 0.408000 77 265 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179611554 179611554 + Silent SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179611554T>C ENST00000360870.5 - 46 15795 c.15573A>G c.(15571-15573)aaA>aaG p.K5191K TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8710 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATACCTTCCTTTTGGTCAGAG 0.388000 15 37 0 0 0.004007 0 0 CACNA1A 773 broad.mit.edu 37 19 13325129 13325129 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:13325129C>T ENST00000360228.5 - 40 5857 c.5858G>A c.(5857-5859)gGg>gAg p.G1953E CACNA1A_ENST00000573710.2_Missense_Mutation_p.G1954E NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1954 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GTAGATCTTCCCCACGGTGAG 0.632000 9 11 0 0 0.000673 0 0 TEX14 56155 broad.mit.edu 37 17 56692659 56692659 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:56692659G>A ENST00000389934.3 - 8 932 c.815C>T c.(814-816)cCc>cTc p.P272L TEX14_ENST00000240361.8_Missense_Mutation_p.P278L|TEX14_ENST00000349033.5_Missense_Mutation_p.P272L NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 278 Protein kinase. cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGGTGGGTGGGGAGATTCAG 0.557000 19 74 0 0 0.001523 0 0 MEGF10 84466 broad.mit.edu 37 5 126792879 126792879 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:126792879C>T ENST00000274473.6 + 26 3559 c.3292C>T c.(3292-3294)Cca>Tca p.P1098S MEGF10_ENST00000503335.2_Missense_Mutation_p.P1098S NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1098 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTCCCAGGATCCATATGACCT 0.463000 54 81 0 0 0.003610 0 0 FNIP2 57600 broad.mit.edu 37 4 159772596 159772596 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:159772596C>A ENST00000264433.6 + 8 926 c.851C>A c.(850-852)cCa>cAa p.P284Q FNIP2_ENST00000379346.3_Missense_Mutation_p.P307Q NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 284 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GGCATCATCCCAAGAAGGTGA 0.493000 6 127 0.00116845 0.00187356 0.001168 1 0 PKP2 5318 broad.mit.edu 37 12 33031940 33031940 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:33031940G>A ENST00000340811.4 - 2 358 c.250C>T c.(250-252)Cct>Tct p.P84S PKP2_ENST00000070846.6_Missense_Mutation_p.P84S NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 84 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ACATACTCAGGAACACTGCTG 0.368000 19 55 0 0 0.002299 0 0 TSPEAR 54084 broad.mit.edu 37 21 45929240 45929240 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45929240G>A ENST00000323084.4 - 10 1661 c.1596C>T c.(1594-1596)ttC>ttT p.F532F TSPEAR_ENST00000397916.1_Silent_p.F464F|TSPEAR-AS1_ENST00000451035.1_RNA NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 532 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CCCCGATCTGGAAGACCTCCC 0.582000 7 23 0 0 0.004482 0 0 POU3F4 5456 broad.mit.edu 37 X 82764188 82764188 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:82764188G>A ENST00000373200.2 + 1 920 c.856G>A c.(856-858)Gag>Aag p.E286K RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298.2 P49335 PO3F4_HUMAN POU class 3 homeobox 4 286 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 GACCTCCATCGAGGTGAGTGT 0.607000 20 3 0 0 0.001523 0 0 CTSF 8722 broad.mit.edu 37 11 66335051 66335051 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:66335051G>A ENST00000310325.5 - 3 504 c.395C>T c.(394-396)cCa>cTa p.P132L CTSF_ENST00000533168.1_5'UTR NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F 132 proteolysis lysosome cysteine-type endopeptidase activity endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CCCAGCACCTGGAACCTTGGT 0.557000 30 76 0 0 0.002096 0 0 PVRL1 5818 broad.mit.edu 37 11 119545890 119545890 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:119545890G>A ENST00000264025.3 - 5 1512 c.982C>T c.(982-984)Cag>Tag p.Q328* PVRL1_ENST00000341398.2_Nonsense_Mutation_p.Q328*|PVRL1_ENST00000340882.2_Nonsense_Mutation_p.Q328* NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 328 Ig-like C2-type 2. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) ACCTCCACCTGGCCTGAGCGT 0.592000 7 4 0 0 0.001984 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51630379 51630379 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:51630379C>T ENST00000440804.3 + 4 908 c.841C>T c.(841-843)Ccc>Tcc p.P281S SIGLEC9_ENST00000250360.3_Missense_Mutation_p.P281S NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 281 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) TGACAGCAATCCCCCTGCCAG 0.607000 48 40 0 0 0.003610 0 0 RNF139 11236 broad.mit.edu 37 8 125498514 125498514 + Silent SNP T T G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:125498514T>G ENST00000303545.3 + 2 996 c.624T>G c.(622-624)gtT>gtG p.V208V NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 208 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CACGATATGTTTATCTTTTGG 0.378000 70 64 0 0 0.003610 0 0 TRAV23DV6 28660 broad.mit.edu 37 14 22554709 22554709 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22554709G>A ENST00000390451.2 + 0 26 GGCTGTCATTGAGCTCTGGTG 0.473000 5 25 0 0 0.001168 0 0 TRAV23DV6 28660 broad.mit.edu 37 14 22554731 22554731 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22554731G>A ENST00000390451.2 + 0 48 CAGGAGGAATGGACAAGATCT 0.443000 22 17 0 0 0.002780 0 0 GTSE1 51512 broad.mit.edu 37 22 46708096 46708096 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:46708096C>T ENST00000454366.1 + 5 1033 c.821C>T c.(820-822)tCc>tTc p.S274F NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 255 A -> T (in dbSNP:rs35503220). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) GAGAAGGAATCCCACCGGGAT 0.537000 47 42 0 0 0.003610 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881214 228881214 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:228881214G>A ENST00000392056.3 - 7 4402 c.4356C>T c.(4354-4356)ctC>ctT p.L1452L SPHKAP_ENST00000344657.5_Silent_p.L1452L NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1452 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTTCCTCTAGGAGGCTGCTTT 0.498000 23 33 0 0 0.002780 0 0 UNC5A 90249 broad.mit.edu 37 5 176306753 176306753 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176306753C>T ENST00000329542.4 + 15 2669 c.2395C>T c.(2395-2397)Ccc>Tcc p.P799S UNC5A_ENST00000261961.3_Missense_Mutation_p.P759S NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 799 Death. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAAGCCCAGCCCCACAGCCAT 0.697000 11 51 0 0 0.000673 0 0 ZNF607 84775 broad.mit.edu 37 19 38189499 38189499 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:38189499C>T ENST00000355202.4 - 5 2128 c.1533G>A c.(1531-1533)ggG>ggA p.G511G ZNF607_ENST00000395835.3_Silent_p.G510G|CTD-2528L19.4_ENST00000586606.2_Intron NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) TAAAGGCCTTCCCACATTCCT 0.403000 21 57 0 0 0.001882 0 0 GLOD4 51031 broad.mit.edu 37 17 663430 663430 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:663430G>A ENST00000301329.6 - 9 965 c.880C>T c.(880-882)Ccc>Tcc p.P294S GLOD4_ENST00000301328.5_Missense_Mutation_p.P309S|GLOD4_ENST00000536578.1_Missense_Mutation_p.P285S NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 309 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GAAGCTTTGGGTTTATTGTGT 0.443000 9 48 0 0 0.000978 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420282 55420282 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:55420282G>A ENST00000242994.3 + 2 437 c.59G>A c.(58-60)tGg>tAg p.W20* NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 20 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 ACACCATCCTGGATGGATAAA 0.443000 9 127 0 0 0.000978 0 0 OR2A25 392138 broad.mit.edu 37 7 143771670 143771670 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:143771670G>A ENST00000408898.2 + 1 396 c.358G>A c.(358-360)Gat>Aat p.D120N NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) GATGTCCTATGATCGGTACGT 0.483000 130 23 0 0 0.003610 0 0 FKRP 79147 broad.mit.edu 37 19 47258805 47258805 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:47258805A>G ENST00000318584.5 + 4 395 c.98A>G c.(97-99)aAt>aGt p.N33S FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.N33S NM_001039885.2|NM_024301.4 NP_001034974.1|NP_077277.1 Q9H9S5 FKRP_HUMAN fukutin related protein 33 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) CAGCCTAGGAATTCCCGGGCC 0.692000 5 13 0 0 0.000602 0 0 SLC26A8 116369 broad.mit.edu 37 6 35960338 35960338 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:35960338G>A ENST00000490799.1 - 6 1094 c.741C>T c.(739-741)ttC>ttT p.F247F SLC26A8_ENST00000394602.2_Intron|SLC26A8_ENST00000355574.2_Silent_p.F247F NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 247 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TCCCAAAGATGAAAGTCAGCT 0.463000 80 12 0 0 0.003610 0 0 PENK 5179 broad.mit.edu 37 8 57358378 57358378 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:57358378G>A ENST00000314922.3 - 1 211 c.135C>T c.(133-135)ttC>ttT p.F45F PENK_ENST00000523051.1_Silent_p.F45F|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000451791.2_Silent_p.F45F|PENK_ENST00000518770.1_Silent_p.F45F NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 45 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CACTCACCAGGAAGTTGATGT 0.682000 22 41 0 0 0.006320 0 0 PLCL2 23228 broad.mit.edu 37 3 17056316 17056316 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:17056316C>T ENST00000418129.2 + 3 3018 c.2553C>T c.(2551-2553)gtC>gtT p.V851V PLCL2_ENST00000396755.2_Silent_p.V851V|PLCL2_ENST00000432376.1_Silent_p.V851V NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 977 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 CCCTAGTGGTCCTAAATCTCA 0.537000 47 105 0 0 0.003610 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67177183 67177183 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:67177183G>A ENST00000312390.5 + 10 1328 c.1299G>A c.(1297-1299)agG>agA p.R433R TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Silent_p.R433R NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 433 Interaction with calcineurin. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGCCCCCCAGGCCCCAACGAG 0.682000 8 31 0 0 0.000673 0 0 NDNF 79625 broad.mit.edu 37 4 121958055 121958055 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:121958055C>T ENST00000379692.4 - 4 1597 c.1071G>A c.(1069-1071)agG>agA p.R357R NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 357 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 TTGCTCCCTTCCTTTTAACAA 0.433000 26 42 0 0 0.005443 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677213 37677213 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:37677213G>A ENST00000532828.2 - 5 1477 c.1226C>T c.(1225-1227)tCg>tTg p.S409L ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S354L NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCATATATACGATTTTTCTCC 0.423000 15 61 0 0 0.004007 0 0 LRRTM3 347731 broad.mit.edu 37 10 68857449 68857449 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:68857449G>A ENST00000361320.4 + 3 2219 c.1641G>A c.(1639-1641)acG>acA p.T547T CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 547 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CCTTTGAAACGAATGCACAGG 0.463000 28 57 0 0 0.007291 0 0 HEPHL1 341208 broad.mit.edu 37 11 93839186 93839186 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:93839186C>T ENST00000315765.9 + 17 2943 c.2935C>T c.(2935-2937)Cat>Tat p.H979Y NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 979 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TGGGAATCTCCATGGCCTCAT 0.338000 20 18 0 0 0.001523 0 0 ZNF121 7675 broad.mit.edu 37 19 9677278 9677278 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9677278G>A ENST00000586602.1 - 6 927 c.511C>T c.(511-513)Ccc>Tcc p.P171S ZNF121_ENST00000320451.6_Missense_Mutation_p.P171S P58317 ZN121_HUMAN zinc finger protein 121 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 24 CATTCATAGGGTTTCTCCCCA 0.368000 35 19 0 0 0.004289 0 0 MT1JP 4498 broad.mit.edu 37 16 56670389 56670389 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:56670389G>A ENST00000564564.1 + 0 715 CAAGTGCAAAGAGTGCAAATG 0.577000 11 9 0 0 0.000978 0 0 FBN2 2201 broad.mit.edu 37 5 127681179 127681179 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:127681179G>A ENST00000508053.1 - 30 4061 c.3087C>T c.(3085-3087)gtC>gtT p.V1029V FBN2_ENST00000262464.4_Silent_p.V1029V|FBN2_ENST00000508989.1_Silent_p.V996V P35556 FBN2_HUMAN fibrillin 2 1029 TB 5. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AAGCCGCCCCGACAGCACAGC 0.592000 24 86 0 0 0.003330 0 0 CCDC141 285025 broad.mit.edu 37 2 179720257 179720257 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179720257C>T ENST00000420890.2 - 19 2994 c.2877G>A c.(2875-2877)agG>agA p.R959R CCDC141_ENST00000295723.5_Silent_p.R384R NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 384 protein binding p.R384R(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TTTCCATTTTCCTTTTCAAAG 0.274000 11 21 0 0 0.000673 0 0 ABCB5 340273 broad.mit.edu 37 7 20778753 20778753 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:20778753G>A ENST00000404938.2 + 24 3667 c.3015G>A c.(3013-3015)ggG>ggA p.G1005G ABCB5_ENST00000258738.6_Silent_p.G560G NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 560 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GTCAAGAAGGGAAAAAGCCAG 0.478000 5 12 0 0 0.000602 0 0 E2F8 79733 broad.mit.edu 37 11 19251064 19251064 + Silent SNP G G A rs139665641 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:19251064G>A ENST00000527884.1 - 10 2062 c.1830C>T c.(1828-1830)ctC>ctT p.L610L RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.L610L NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 610 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CACTGTCCTCGAGCATGCTTG 0.507000 86 23 0 0 0.003610 0 0 MORC3 23515 broad.mit.edu 37 21 37744705 37744705 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:37744705C>T ENST00000400485.1 + 16 2618 c.2542C>T c.(2542-2544)Cgt>Tgt p.R848C MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 848 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GTCACAAATCCGTTCACAGTG 0.323000 16 67 0 0 0.006122 0 0 MACF1 23499 broad.mit.edu 37 1 39797699 39797699 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:39797699C>T ENST00000564288.1 + 37 6216 c.5439C>T c.(5437-5439)atC>atT p.I1813I MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Silent_p.I1818I|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Silent_p.I253I|MACF1_ENST00000567887.1_Silent_p.I1850I|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1818 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGGAGGCATCATAGACACTG 0.478000 14 15 0 0 0.003163 0 0 SSPO 23145 broad.mit.edu 37 7 149510822 149510822 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:149510822C>T ENST00000378016.2 + 0 10107 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCTGCCTGGACCTGCTGACCG 0.697000 37 4 0 0 0.004289 0 0 PXDNL 137902 broad.mit.edu 37 8 52321655 52321655 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:52321655G>A ENST00000356297.4 - 17 2629 c.2529C>T c.(2527-2529)ttC>ttT p.F843F PXDNL_ENST00000543296.1_Silent_p.F843F NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 843 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGTTCATGGGGAAACAAGGAG 0.697000 13 15 0 0 0.001855 0 0 IMMT 10989 broad.mit.edu 37 2 86400788 86400788 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:86400788G>A ENST00000410111.3 - 4 793 c.406C>T c.(406-408)Cca>Tca p.P136S IMMT_ENST00000254636.5_Missense_Mutation_p.P49S|IMMT_ENST00000409051.2_Missense_Mutation_p.P136S|IMMT_ENST00000442664.2_Missense_Mutation_p.P136S|IMMT_ENST00000449247.2_Missense_Mutation_p.P136S NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 136 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GCTGAAGCTGGAGTATCTCCC 0.348000 13 10 0 0 0.001368 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141297807 141297807 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:141297807G>A ENST00000389328.4 - 13 2189 c.2175C>T c.(2173-2175)ttC>ttT p.F725F TRAPPC9_ENST00000438773.2_Silent_p.F627F|TRAPPC9_ENST00000389327.3_Silent_p.F618F NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 627 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GGAGAGACTCGAACTCCACTC 0.577000 13 36 0 0 0.001368 0 0 ZNF761 388561 broad.mit.edu 37 19 53959970 53959970 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:53959970C>T ENST00000454407.1 + 0 2662 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TACATGCCATCGTAGACTTCA 0.403000 58 49 0 0 0.003610 0 0 PDGFB 5155 broad.mit.edu 37 22 39621782 39621782 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:39621782C>T ENST00000331163.6 - 6 1459 c.672G>A c.(670-672)cgG>cgA p.R224R PDGFB_ENST00000381551.4_Silent_p.R209R NM_002608.2 NP_002599.1 P01127 PDGFB_HUMAN platelet-derived growth factor beta polypeptide 224 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity p.R224R(2)|p.R209R(1) COL1A1/PDGFB(429) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Melanoma(58;0.04) Becaplermin(DB00102) GCTTGAATTTCCGGTGCTTGC 0.622000 T COL1A1 DFSP 11 27 0 0 0.000978 0 0 VPS45 11311 broad.mit.edu 37 1 150054811 150054811 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:150054811G>A ENST00000369130.3 + 10 1494 c.948G>A c.(946-948)gaG>gaA p.E316E VPS45_ENST00000369128.5_Silent_p.E211E|VPS45_ENST00000535106.1_Silent_p.E247E NM_007259.3 NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 316 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CGTTTGTTGAGAATTATCCAC 0.463000 29 120 0 0 0.003271 0 0 TTN 7273 broad.mit.edu 37 2 179595812 179595812 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179595812G>A ENST00000589042.1 - 60 17804 c.17580C>T c.(17578-17580)ggC>ggT p.G5860G TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.G5543G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.G4616G NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5543 Ig-like 39. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G4616G(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAGTTCTTGGCCATCTTTAA 0.393000 26 32 0 0 0.003330 0 0 GCKR 2646 broad.mit.edu 37 2 27741759 27741759 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:27741759G>A ENST00000264717.2 + 17 1590 c.1527G>A c.(1525-1527)cgG>cgA p.R509R GCKR_ENST00000424318.2_Silent_p.R319R NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 509 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TGGACCTTCGGATTAGCAACT 0.542000 32 68 0 0 0.003755 0 0 SPPL2B 56928 broad.mit.edu 37 19 2334633 2334633 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:2334633C>T ENST00000452401.2 + 0 179 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCACGTGGTCTCCCAGGCCG 0.652000 12 8 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179621414 179621414 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179621414C>T ENST00000589042.1 - 46 11013 c.10789G>A c.(10789-10791)Gaa>Aaa p.E3597K TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3426K|TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3283 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACTTAATTTCCTTTTGAGAT 0.408000 18 31 0 0 0.006122 0 0 EIF3B 8662 broad.mit.edu 37 7 2402736 2402736 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:2402736C>T ENST00000360876.4 + 4 900 c.844C>T c.(844-846)Cca>Tca p.P282S EIF3B_ENST00000397011.2_Missense_Mutation_p.P282S NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 282 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GTGGGATATTCCAGAGAAACA 0.522000 93 231 0 0 0.003610 0 0 BRD1 23774 broad.mit.edu 37 22 50171394 50171394 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:50171394G>A ENST00000457780.2 - 9 2858 c.2843C>T c.(2842-2844)cCa>cTa p.P948L BRD1_ENST00000404034.1_Silent_p.A844A|BRD1_ENST00000404760.1_Silent_p.A975A|BRD1_ENST00000542442.1_Silent_p.A532A|BRD1_ENST00000342989.5_Silent_p.A570A|BRD1_ENST00000216267.8_Silent_p.A844A O95696 BRD1_HUMAN bromodomain containing 1 0 PWWP. histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GTCGGGGTGTGGCCTTCCTCC 0.711000 4 23 0 0 0.000248 0 0 GAREM 64762 broad.mit.edu 37 18 29867085 29867085 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:29867085G>A ENST00000399218.4 - 4 1530 c.1475C>T c.(1474-1476)tCt>tTt p.S492F GAREM_ENST00000269209.6_Missense_Mutation_p.S492F NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 GGGAAGAGGAGAAGTCGCACA 0.537000 32 80 0 0 0.002096 0 0 HLX 3142 broad.mit.edu 37 1 221054565 221054565 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:221054565C>T ENST00000366903.6 + 2 2123 c.622C>T c.(622-624)Ccc>Tcc p.P208S NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 208 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) CGGTGGGCGGCCCGCCGGGGT 0.582000 58 52 0 0 0.003610 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803026 185803026 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:185803026C>T ENST00000302277.6 + 4 3497 c.2903C>T c.(2902-2904)tCc>tTc p.S968F NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 968 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CAGCCTAAATCCTATCTTTGC 0.383000 16 23 0 0 0.001216 0 0 C8orf47 203111 broad.mit.edu 37 8 99101378 99101378 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:99101378G>A ENST00000318528.3 + 2 492 c.133G>A c.(133-135)Gga>Aga p.G45R C8orf47_ENST00000545282.1_Intron NM_173549.2 NP_775820.2 Q6P6B1 CH047_HUMAN chromosome 8 open reading frame 47 45 kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) ACATGCACTGGGAAGAGAATC 0.418000 24 25 0 0 0.003954 0 0 TTC37 9652 broad.mit.edu 37 5 94852694 94852694 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:94852694G>A ENST00000358746.2 - 22 2660 c.2362C>T c.(2362-2364)Cgc>Tgc p.R788C NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 788 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TGTGCTTGGCGATAATAATTA 0.333000 15 17 0 0 0.002450 0 0 RSPO3 84870 broad.mit.edu 37 6 127476437 127476437 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:127476437G>A ENST00000356698.4 + 4 1077 c.488G>A c.(487-489)gGa>gAa p.G163E RSPO3_ENST00000368317.3_Missense_Mutation_p.G163E NM_032784.3 NP_116173.2 Q9BXY4 RSPO3_HUMAN R-spondin 3 163 TSP type-1. extracellular region heparin binding PTPRK/RSPO3(10) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 GBM - Glioblastoma multiforme(226;0.0555) ACGAAGAAGGGAAAAACATGT 0.463000 28 77 0 0 0.006320 0 0 CSMD2 114784 broad.mit.edu 37 1 34066529 34066529 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:34066529G>A ENST00000373381.4 - 44 6968 c.6792C>T c.(6790-6792)aaC>aaT p.N2264N CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373388.2_Silent_p.N363N|CSMD2_ENST00000373380.1_Silent_p.N1137N|CSMD2_ENST00000373377.1_Silent_p.N363N NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2266 CUB 13. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCAGGACCTGGTTGGATGAAC 0.587000 27 56 0 0 0.007291 0 0 KCNE1 3753 broad.mit.edu 37 21 35821771 35821771 + Silent SNP G G A rs17173508 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:35821771G>A ENST00000337385.3 - 3 537 c.162C>T c.(160-162)ttC>ttT p.F54F KCNE1_ENST00000399286.2_Silent_p.F54F|KCNE1_ENST00000399284.1_Silent_p.F54F|KCNE1_ENST00000399289.3_Silent_p.F54F|KCNE1_ENST00000416357.2_Silent_p.F54F|KCNE1_ENST00000432085.1_Silent_p.F54F NM_001270402.1|NM_001270403.1 NP_001257331.1|NP_001257332.1 P15382 KCNE1_HUMAN potassium voltage-gated channel, Isk-related family, member 1 54 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound lysosome delayed rectifier potassium channel activity|potassium channel regulator activity large_intestine(4)|lung(1)|ovary(2) 7 Indapamide(DB00808) TGAAGAAGCCGAAGAATCCCA 0.607000 107 187 0 0 0.003610 0 0 CDH8 1006 broad.mit.edu 37 16 61855009 61855009 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:61855009G>A ENST00000577390.1 - 6 1798 c.844C>T c.(844-846)Cac>Tac p.H282Y CDH8_ENST00000577730.1_Missense_Mutation_p.H282Y|CDH8_ENST00000299345.6_Missense_Mutation_p.H282Y|CDH8_ENST00000584337.1_Missense_Mutation_p.H282Y NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 282 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ACTGAGAAGTGATACAGGCCT 0.403000 15 16 0 0 0.004007 0 0 FAM160A2 84067 broad.mit.edu 37 11 6235747 6235747 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:6235747G>A ENST00000265978.4 - 11 2851 c.2493C>T c.(2491-2493)ttC>ttT p.F831F FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Silent_p.F817F NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 817 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCAGTGCTGGGAAGTCCTCCT 0.557000 65 15 0 0 0.003610 0 0 GK2 2712 broad.mit.edu 37 4 80327831 80327831 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:80327831C>T ENST00000358842.3 - 1 1541 c.1524G>A c.(1522-1524)atG>atA p.M508I NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 508 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CCATTGACTTCATTACGGCTT 0.448000 24 45 0 0 0.007291 0 0 MARCH10 162333 broad.mit.edu 37 17 60814508 60814508 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:60814508C>T ENST00000544856.2 - 7 1096 c.718G>A c.(718-720)Gga>Aga p.G240R MARCH10_ENST00000583600.1_Missense_Mutation_p.G279R|MARCH10_ENST00000456609.2_Missense_Mutation_p.G241R|MARCH10_ENST00000311269.5_Missense_Mutation_p.G241R|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 241 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CTATTTTTTCCTTGGAAGGCC 0.532000 56 72 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179617902 179617902 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179617902C>T ENST00000589042.1 - 47 11484 c.11260G>A c.(11260-11262)Gaa>Aaa p.E3754K TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3391K|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3583K|TTN_ENST00000360870.5_Missense_Mutation_p.E3437K|TTN_ENST00000591111.1_Missense_Mutation_p.E3437K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3516K|TTN_ENST00000342992.6_Missense_Mutation_p.E3437K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3437 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAAATTGATTCAGGAGCTAAA 0.264000 16 16 0 0 0.004990 0 0 NR6A1 2649 broad.mit.edu 37 9 127300562 127300562 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:127300562C>T ENST00000487099.2 - 6 790 c.633G>A c.(631-633)agG>agA p.R211R NR6A1_ENST00000373584.3_Silent_p.R207R|NR6A1_ENST00000344523.4_Silent_p.R210R|NR6A1_ENST00000416460.2_Silent_p.R206R NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 211 Sufficient for interaction with UIMC1 (By similarity). cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 TGTACTGTTCCCTGAAGGCCA 0.468000 55 40 0 0 0.003610 0 0 KIAA0319 9856 broad.mit.edu 37 6 24601303 24601303 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:24601303G>A ENST00000378214.3 - 2 553 c.29C>T c.(28-30)tCa>tTa p.S10L KIAA0319_ENST00000535378.1_5'UTR|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000543707.1_Missense_Mutation_p.S10L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S10L NM_001168375.1|NM_014809.3 NP_001161847.1|NP_055624.2 Q5VV43 K0319_HUMAN KIAA0319 10 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CAGCAGCAATGAAGAGAGCAC 0.532000 114 103 0 0 0.003610 0 0 SLC38A10 124565 broad.mit.edu 37 17 79225202 79225202 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:79225202C>T ENST00000288439.5 - 14 2501 c.2156G>A c.(2155-2157)gGg>gAg p.G719E SLC38A10_ENST00000374759.3_Intron NM_138570.2 NP_612637.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 0 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GGCAGGGCTCCCGAGGATGAC 0.682000 18 20 0 0 0.004990 0 0 TENM1 10178 broad.mit.edu 37 X 123517540 123517540 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:123517540G>A ENST00000422452.2 - 30 7304 c.7241C>T c.(7240-7242)tCc>tTc p.S2414F STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.S2407F NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ATTTTCAAAGGAGTAGAGGTT 0.373000 25 35 0 0 0.003954 0 0 POFUT1 23509 broad.mit.edu 37 20 30804422 30804422 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:30804422C>T ENST00000375749.3 + 4 502 c.440C>T c.(439-441)cCc>cTc p.P147L POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Missense_Mutation_p.P147L|POFUT1_ENST00000486717.1_3'UTR NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 147 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GAAGGAAACCCCTTTGGCCCA 0.522000 21 98 0 0 0.004656 0 0 KIF9 64147 broad.mit.edu 37 3 47305837 47305837 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:47305837C>A ENST00000335044.2 - 9 1277 c.920G>T c.(919-921)gGa>gTa p.G307V KIF9_ENST00000452770.2_Missense_Mutation_p.G307V|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Missense_Mutation_p.G307V|KIF9_ENST00000352910.4_Missense_Mutation_p.G214V|KIF9_ENST00000265529.3_Missense_Mutation_p.G307V NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 307 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) ATTGCAGTTTCCCCCTGCGGA 0.448000 22 63 3.01185e-09 4.87633e-09 0.003954 1 0 TRIM69 140691 broad.mit.edu 37 15 45050926 45050926 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:45050926G>A ENST00000558173.1 + 2 4820 c.75G>A c.(73-75)ggG>ggA p.G25G TRIM69_ENST00000338264.4_Silent_p.G70G|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558329.1_Silent_p.G25G|TRIM69_ENST00000329464.4_Silent_p.G229G|TRIM69_ENST00000559390.1_Silent_p.G229G|TRIM69_ENST00000560442.1_Silent_p.G25G Q86WT6 TRI69_HUMAN tripartite motif containing 69 229 Necessary for nuclear localization (By similarity). apoptosis nuclear speck zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) GGGAAGAGGGGAAAGCCTTGA 0.473000 14 29 0 0 0.004990 0 0 SERPINB3 6317 broad.mit.edu 37 18 61323108 61323108 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:61323108C>T ENST00000283752.5 - 8 1099 c.956G>A c.(955-957)gGg>gAg p.G319E SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.G267E NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 319 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 ACCGCGGCTCCCGGTCATGCC 0.547000 22 78 0 0 0.002299 0 0 ZNF345 25850 broad.mit.edu 37 19 37367907 37367907 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:37367907G>A ENST00000529555.1 + 2 963 c.175G>A c.(175-177)Gag>Aag p.E59K ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.E59K|ZNF345_ENST00000420450.1_Missense_Mutation_p.E59K|ZNF345_ENST00000432005.2_Intron Q14585 ZN345_HUMAN zinc finger protein 345 59 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCATACTGATGAGAAACTCCT 0.393000 19 46 0 0 0.002780 0 0 ITGAM 3684 broad.mit.edu 37 16 31308887 31308887 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:31308887G>T ENST00000544665.3 + 13 1480 c.1409G>T c.(1408-1410)gGc>gTc p.G470V ITGAM_ENST00000287497.8_Missense_Mutation_p.G470V NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 470 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GACAGCAACGGCAGCACCGAC 0.637000 47 110 3.68337e-26 6.00881e-26 0.003610 1 0 DCAF6 55827 broad.mit.edu 37 1 168044630 168044630 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:168044630C>T ENST00000367840.3 + 22 2907 c.2813C>T c.(2812-2814)tCa>tTa p.S938L DCAF6_ENST00000312263.6_Missense_Mutation_p.S847L|DCAF6_ENST00000432587.2_Missense_Mutation_p.S907L|DCAF6_ENST00000367843.3_Missense_Mutation_p.S867L NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 847 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 GGTGACAGATCAGAAGGCTCT 0.318000 10 9 0 0 0.001855 0 0 LGALS12 85329 broad.mit.edu 37 11 63273900 63273900 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:63273900G>A ENST00000255684.5 + 1 345 c.36G>A c.(34-36)acG>acA p.T12T LGALS12_ENST00000394618.3_Silent_p.T12T|LGALS12_ENST00000340246.5_Silent_p.T12T NM_001142536.1 NP_001136008.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 12 apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 CTCCTGGAACGAGGATCTACA 0.572000 20 47 0 0 0.001882 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150535922 150535922 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:150535922C>T ENST00000361131.4 + 2 466 c.349C>T c.(349-351)Ctt>Ttt p.L117F NM_030949.2 NP_112211.1 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14C 117 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) TGATGATCTTCTTGATGCAGA 0.413000 23 38 0 0 0.006320 0 0 HPCAL1 3241 broad.mit.edu 37 2 10560105 10560105 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:10560105C>T ENST00000381765.3 + 4 748 c.222C>T c.(220-222)acC>acT p.T74T HPCAL1_ENST00000307845.3_Silent_p.T74T NM_134421.2 NP_602293.1 P37235 HPCL1_HUMAN hippocalcin-like 1 74 EF-hand 2. calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.214) CCTTCGACACCAACGGCGACG 0.602000 16 57 0 0 0.006122 0 0 GABRA6 2559 broad.mit.edu 37 5 161116303 161116303 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:161116303C>T ENST00000523217.1 + 5 702 c.460C>T c.(460-462)Cct>Tct p.P154S GABRA6_ENST00000274545.5_Missense_Mutation_p.P164S|RP11-348M17.2_ENST00000521984.1_RNA NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 164 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGTTAACTTTCCTATGGATGG 0.388000 TCGA Ovarian(5;0.080) 16 77 0 0 0.001216 0 0 RBM47 54502 broad.mit.edu 37 4 40440485 40440485 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:40440485G>A ENST00000319592.4 - 4 1135 c.426C>T c.(424-426)ctC>ctT p.L142L RBM47_ENST00000295971.7_Silent_p.L142L|RBM47_ENST00000381795.6_Silent_p.L142L|RBM47_ENST00000514014.1_Silent_p.L104L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Silent_p.L142L A0AV96 RBM47_HUMAN RNA binding motif protein 47 142 RRM 1. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 AGCACACGCCGAGCAGGCGGC 0.627000 14 24 0 0 0.003163 0 0 ANK3 288 broad.mit.edu 37 10 61967832 61967832 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:61967832G>A ENST00000280772.1 - 10 1347 c.1156C>T c.(1156-1158)Ctc>Ttc p.L386F ANK3_ENST00000503366.1_Missense_Mutation_p.L369F|ANK3_ENST00000373827.2_Missense_Mutation_p.L380F NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 386 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTATCCAAGAGAACCTTGGCA 0.527000 24 41 0 0 0.002780 0 0 MYO16 23026 broad.mit.edu 37 13 109707928 109707928 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:109707928C>T ENST00000356711.2 + 27 3380 c.3254C>T c.(3253-3255)tCg>tTg p.S1085L MYO16_ENST00000457511.2_Missense_Mutation_p.S597L|MYO16_ENST00000357550.2_Missense_Mutation_p.S1085L NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1085 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CTTTCCTTCTCGGATTTCCTG 0.433000 28 21 0 0 0.002096 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432633 104432633 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:104432633G>A ENST00000361820.3 - 3 2661 c.2061C>T c.(2059-2061)atC>atT p.I687I NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 687 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGACGGCAGTGATGTGCAGAG 0.498000 35 45 0 0 0.006230 0 0 SYMPK 8189 broad.mit.edu 37 19 46319749 46319749 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:46319749G>A ENST00000245934.7 - 25 3589 c.3345C>T c.(3343-3345)ccC>ccT p.P1115P SYMPK_ENST00000598155.1_5'UTR NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 1115 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CCTCCTCCAAGGGCCCCGCAG 0.657000 9 10 0 0 0.000978 0 0 NWD1 284434 broad.mit.edu 37 19 16918402 16918402 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:16918402G>A ENST00000524140.2 + 18 4160 c.3742G>A c.(3742-3744)Gaa>Aaa p.E1248K NWD1_ENST00000552788.1_Missense_Mutation_p.E1248K|NWD1_ENST00000549814.1_Missense_Mutation_p.E1206K|NWD1_ENST00000523826.1_Missense_Mutation_p.E1042K|NWD1_ENST00000379808.3_Missense_Mutation_p.E1248K|NWD1_ENST00000339803.6_Missense_Mutation_p.E1113K NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1248 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGCAGGCGAGGAACAAGATTC 0.502000 25 78 0 0 0.001512 0 0 SACS 26278 broad.mit.edu 37 13 23907771 23907771 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:23907771G>A ENST00000382298.3 - 10 10832 c.10244C>T c.(10243-10245)tCc>tTc p.S3415F SACS_ENST00000402364.1_Missense_Mutation_p.S2665F|SACS_ENST00000382292.3_Missense_Mutation_p.S3415F NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3415 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GCCACTGATGGATTTATAGCA 0.363000 27 50 0 0 0.003954 0 0 TNC 3371 broad.mit.edu 37 9 117838849 117838849 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:117838849C>T ENST00000350763.4 - 8 3091 c.2680G>A c.(2680-2682)Gat>Aat p.D894N TNC_ENST00000423613.2_Missense_Mutation_p.D894N|TNC_ENST00000346706.3_Missense_Mutation_p.D894N|TNC_ENST00000535648.1_Missense_Mutation_p.D894N|TNC_ENST00000341037.4_Missense_Mutation_p.D894N|TNC_ENST00000542877.1_Missense_Mutation_p.D894N|TNC_ENST00000340094.3_Missense_Mutation_p.D894N|TNC_ENST00000537320.1_Missense_Mutation_p.D894N|TNC_ENST00000345230.3_Missense_Mutation_p.D894N NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 894 Fibronectin type-III 4. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CTGGGAGCATCGAGGCCTGTT 0.453000 52 84 0 0 0.003610 0 0 TECPR2 9895 broad.mit.edu 37 14 102894633 102894633 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:102894633C>T ENST00000359520.7 + 7 1224 c.998C>T c.(997-999)tCg>tTg p.S333L TECPR2_ENST00000558678.1_Missense_Mutation_p.S333L NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 333 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GTGTCTGTTTCGTGCACAGAA 0.323000 20 7 0 0 0.007413 0 0 HEXA 3073 broad.mit.edu 37 15 72637870 72637870 + Silent SNP G G A rs140091006 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:72637870G>A ENST00000268097.5 - 13 1946 c.1443C>T c.(1441-1443)gcC>gcT p.A481A RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Silent_p.A481A|HEXA_ENST00000566304.1_Silent_p.A492A|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000457859.2_3'UTR NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 481 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 ACAGCCTTTCGGCAACAGCCC 0.547000 19 37 0 0 0.001523 0 0 GEMIN5 25929 broad.mit.edu 37 5 154307058 154307058 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:154307058G>A ENST00000285873.7 - 7 1042 c.967C>T c.(967-969)Ctc>Ttc p.L323F NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 323 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCACTGAAGAGGGTGTATTTC 0.373000 34 36 0 0 0.005524 0 0 HECW2 57520 broad.mit.edu 37 2 197183418 197183418 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:197183418C>T ENST00000260983.2 - 9 2378 c.2196G>A c.(2194-2196)gaG>gaA p.E732E HECW2_ENST00000409111.1_Silent_p.E376E NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 732 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CCTCCCCCAGCTCCTCCTGGT 0.647000 5 10 0 0 0.001984 0 0 MAGI1 9223 broad.mit.edu 37 3 65439006 65439006 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:65439006C>T ENST00000330909.8 - 6 968 c.969G>A c.(967-969)acG>acA p.T323T MAGI1_ENST00000402939.2_Silent_p.T323T|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.T323T|MAGI1_ENST00000497477.2_Silent_p.T323T NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 323 WW 1. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) ATGTTGTTTTCGTGTTATGGC 0.403000 29 67 0 0 0.002096 0 0 ASPHD1 253982 broad.mit.edu 37 16 29913068 29913068 + Translation_Start_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:29913068G>A ENST00000483405.1 + 0 559 ASPHD1_ENST00000308748.5_Missense_Mutation_p.R259Q Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 CAAGCAGGCCGGTGCCAACCC 0.667000 7 20 0 0 0.001984 0 0 CELSR3 1951 broad.mit.edu 37 3 48696450 48696450 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:48696450G>A ENST00000544264.1 - 1 3898 c.3618C>T c.(3616-3618)ctC>ctT p.L1206L CELSR3_ENST00000164024.4_Silent_p.L1206L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1206 Cadherin 9. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGAGTAGAAGAGGTGGTCGG 0.547000 8 26 0 0 0.004482 0 0 NETO1 81832 broad.mit.edu 37 18 70526248 70526248 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:70526248C>T ENST00000327305.6 - 4 939 c.282G>A c.(280-282)tgG>tgA p.W94* NETO1_ENST00000299430.2_Nonsense_Mutation_p.W93*|NETO1_ENST00000397929.1_Nonsense_Mutation_p.W93*|NETO1_ENST00000583169.1_Nonsense_Mutation_p.W94*|NETO1_ENST00000580049.1_5'UTR NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 94 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) ATTTGCACTCCCAAGACGGTT 0.383000 15 44 0 0 0.002450 0 0 FAM135B 51059 broad.mit.edu 37 8 139263231 139263231 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:139263231A>C ENST00000395297.1 - 6 565 c.395T>G c.(394-396)aTg>aGg p.M132R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 132 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCTGCTGACCATCGGTGCCCC 0.572000 HNSCC(54;0.14) 53 44 0 0 0.003610 0 0 SETBP1 26040 broad.mit.edu 37 18 42530992 42530992 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:42530992C>T ENST00000282030.5 + 4 1983 c.1687C>T c.(1687-1689)Ccc>Tcc p.P563S NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 563 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GTCTGCATATCCCATCACCCC 0.522000 Schinzel-Giedion syndrome 48 131 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13901467 13901467 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:13901467G>A ENST00000265104.4 - 14 2050 c.1946C>T c.(1945-1947)gCt>gTt p.A649V NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 649 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCTTAGCACAGCTGGGTGCTG 0.557000 Kartagener syndrome 35 18 0 0 0.005524 0 0 HEXA 3073 broad.mit.edu 37 15 72642920 72642920 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:72642920G>A ENST00000268097.5 - 7 1247 c.744C>T c.(742-744)ctC>ctT p.L248L RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Silent_p.L248L|HEXA_ENST00000566304.1_Silent_p.L259L|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Silent_p.L75L|HEXA_ENST00000457859.2_Silent_p.L56L NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 248 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 GGATACCCCGGAGCCGTGCGT 0.542000 37 56 0 0 0.003755 0 0 COG2 22796 broad.mit.edu 37 1 230810853 230810853 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:230810853C>T ENST00000534989.1 + 9 1167 c.832C>T c.(832-834)Ccc>Tcc p.P278S COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Missense_Mutation_p.P221S|COG2_ENST00000366668.3_Missense_Mutation_p.P337S|COG2_ENST00000366669.4_Missense_Mutation_p.P337S Q14746 COG2_HUMAN component of oligomeric golgi complex 2 337 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TCCTGGGAATCCCGATGCATT 0.413000 29 79 0 0 0.007291 0 0 AHNAK 79026 broad.mit.edu 37 11 62288237 62288237 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:62288237G>A ENST00000378024.4 - 5 13926 c.13652C>T c.(13651-13653)cCc>cTc p.P4551L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4551 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATCCACTTTGGGACCTTTCAG 0.423000 22 41 0 0 0.001523 0 0 CCDC108 255101 broad.mit.edu 37 2 219870935 219870935 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:219870935G>A ENST00000341552.5 - 31 4813 c.4730C>T c.(4729-4731)cCc>cTc p.P1577L CCDC108_ENST00000453220.1_Missense_Mutation_p.P1577L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1577L|AC097468.4_ENST00000441450.1_RNA NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1577 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTTCTTGATGGGAGGCAGTGT 0.612000 11 24 0 0 0.002450 0 0 TSPEAR 54084 broad.mit.edu 37 21 45950937 45950937 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45950937C>T ENST00000323084.4 - 4 687 c.622G>A c.(622-624)Ggc>Agc p.G208S TSPEAR_ENST00000397916.1_Missense_Mutation_p.G140S NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 208 TSP N-terminal. cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 ATGAACAGGCCTTTGGCTCTC 0.577000 6 32 0 0 0.001984 0 0 LGALS17A 400696 broad.mit.edu 37 19 40172138 40172138 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:40172138C>T ENST00000412609.1 + 0 127 GGACACCGATCATCCCTTTCG 0.532000 5 31 0 0 0.000602 0 0 RGS22 26166 broad.mit.edu 37 8 101020656 101020656 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:101020656G>A ENST00000360863.6 - 15 2502 c.2308C>T c.(2308-2310)Ctt>Ttt p.L770F RGS22_ENST00000523287.1_Missense_Mutation_p.L589F|RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.L758F NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 770 Poly-Leu. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GGCTCAAGAAGGAGGAGAAGG 0.378000 24 55 0 0 0.005443 0 0 HEATR5A 25938 broad.mit.edu 37 14 31774132 31774132 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:31774132G>A ENST00000543095.2 - 32 5402 c.5218C>T c.(5218-5220)Cct>Tct p.P1740S HEATR5A_ENST00000439348.1_Missense_Mutation_p.P1734S|HEATR5A_ENST00000389961.3_Missense_Mutation_p.P1734S|HEATR5A_ENST00000439727.1_Missense_Mutation_p.P1447S NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1734 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CACACTGCAGGAAGTTCGGAA 0.418000 14 52 0 0 0.003163 0 0 CALCRL 10203 broad.mit.edu 37 2 188247997 188247997 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:188247997C>T ENST00000409998.1 - 6 868 c.87G>A c.(85-87)gaG>gaA p.E29E CALCRL_ENST00000410068.1_Silent_p.E29E|CALCRL_ENST00000392370.3_Silent_p.E29E|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 29 integral to plasma membrane p.E29_D30>DN(1)|p.E29D(1) endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GAATTGAGTCCTCAGGACTCT 0.338000 11 12 0 0 0.000673 0 0 LRP1B 53353 broad.mit.edu 37 2 141135780 141135780 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:141135780C>T ENST00000389484.3 - 68 11578 c.10607G>A c.(10606-10608)gGa>gAa p.G3536E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3536 LDL-receptor class A 26. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTCAAAATCTCCATCACACCA 0.403000 TSP Lung(27;0.18) 17 40 0 0 0.001216 0 0 INSR 3643 broad.mit.edu 37 19 7152894 7152894 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:7152894C>T ENST00000341500.5 - 10 2113 c.2074G>A c.(2074-2076)Gaa>Aaa p.E692K INSR_ENST00000302850.5_Missense_Mutation_p.E692K NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 692 Fibronectin type-III 1. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGAGAATCTTCAGACTCGAAT 0.537000 93 275 0 0 0.003610 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010864 59010864 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:59010864G>A ENST00000263093.2 - 7 1771 c.1662C>T c.(1660-1662)acC>acT p.T554T SLC27A5_ENST00000601355.1_Silent_p.T470T NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 554 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T554I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CGGACCGGAAGGTGTCCCCGA 0.657000 11 56 0 0 0.000673 0 0 SLC41A2 84102 broad.mit.edu 37 12 105282867 105282867 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:105282867G>A ENST00000258538.3 - 4 951 c.824C>T c.(823-825)tCc>tTc p.S275F NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 275 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 CAGAAGTATGGAATGATCAAG 0.388000 41 13 0 0 0.006999 0 0 ITGAL 3683 broad.mit.edu 37 16 30522201 30522201 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:30522201G>A ENST00000356798.6 + 23 2799 c.e23-1 ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TTTCCTGCCAGGTTGCTCTGC 0.542000 31 22 0 0 0.004878 0 0 PTGFRN 5738 broad.mit.edu 37 1 117487679 117487679 + Missense_Mutation SNP C C T rs137888350 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:117487679C>T ENST00000393203.2 + 3 944 c.797C>T c.(796-798)gCc>gTc p.A266V NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 266 Ig-like C2-type 2. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CAAGAAAAGGCCGTGGAAGTT 0.527000 6 19 0 0 0.001984 0 0 FAT4 79633 broad.mit.edu 37 4 126240276 126240276 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:126240276G>A ENST00000394329.3 + 1 2723 c.2710G>A c.(2710-2712)Gag>Aag p.E904K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 904 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAATGTGGTGGAGAATTGGCA 0.463000 10 22 0 0 0.000978 0 0 ZNF230 7773 broad.mit.edu 37 19 44515476 44515476 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:44515476C>T ENST00000429154.2 + 5 1513 c.1285C>T c.(1285-1287)Ctt>Ttt p.L429F NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) TGGAAAGAGGCTTGTACACCG 0.458000 26 25 0 0 0.003954 0 0 ERC2 26059 broad.mit.edu 37 3 56330159 56330159 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:56330159C>T ENST00000288221.6 - 3 1217 c.962G>A c.(961-963)aGc>aAc p.S321N NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 321 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) ATCCTCCAGGCTTTTGGATGG 0.453000 65 182 0 0 0.003610 0 0 STEAP4 79689 broad.mit.edu 37 7 87913487 87913487 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:87913487G>A ENST00000380079.4 - 2 199 c.98C>T c.(97-99)tCa>tTa p.S33L AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.S33L|STEAP4_ENST00000414498.1_Missense_Mutation_p.S33L|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 33 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) CAATCCCAGTGATCTTCCAAA 0.418000 108 9 0 0 0.003610 0 0 COL7A1 1294 broad.mit.edu 37 3 48604154 48604154 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:48604154G>A ENST00000328333.8 - 111 8350 c.8243C>T c.(8242-8244)cCc>cTc p.P2748L COL7A1_ENST00000454817.1_Missense_Mutation_p.P2716L NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2748 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCTCTCTCCGGGGGGACCTCG 0.642000 30 71 0 0 0.007291 0 0 MED4 29079 broad.mit.edu 37 13 48669172 48669172 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:48669172C>T ENST00000258648.2 - 1 68 c.43G>A c.(43-45)Gga>Aga p.G15R MED4_ENST00000378586.1_Intron NM_014166.2 NP_054885.1 Q9NPJ6 MED4_HUMAN mediator complex subunit 4 15 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1) 8 all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;5.18e-07) AAACCGCCTCCCAGCCGCTCC 0.647000 OREG0022406 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 13 0 0 0.000602 0 0 ZNF704 619279 broad.mit.edu 37 8 81733661 81733661 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:81733661G>A ENST00000327835.3 - 2 400 c.169C>T c.(169-171)Ctt>Ttt p.L57F NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 57 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TTTTGCTCAAGGAGACAGATG 0.453000 56 182 0 0 0.003610 0 0 CLEC10A 10462 broad.mit.edu 37 17 6978411 6978411 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:6978411C>T ENST00000254868.4 - 9 1241 c.913G>A c.(913-915)Gag>Aag p.E305K CLEC10A_ENST00000571664.1_Missense_Mutation_p.E281K|CLEC10A_ENST00000576617.1_3'UTR|CLEC10A_ENST00000416562.2_Missense_Mutation_p.E278K NM_182906.2 NP_878910.1 Q8IUN9 CLC10_HUMAN C-type lectin domain family 10, member A 305 C-type lectin. endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 AGGCCAGCCTCGCAGACCCAG 0.647000 17 62 0 0 0.006122 0 0 FMN2 56776 broad.mit.edu 37 1 240371380 240371380 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:240371380C>T ENST00000319653.9 + 5 3498 c.3268C>T c.(3268-3270)Cct>Tct p.P1090S NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1090 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCACCTCCCCCTCTACCCGG 0.731000 8 15 0 0 0.000978 0 0 GALNT15 117248 broad.mit.edu 37 3 16254145 16254145 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:16254145G>A ENST00000339732.5 + 6 1770 c.1267G>A c.(1267-1269)Gat>Aat p.D423N GALNT15_ENST00000437509.1_Missense_Mutation_p.D423N NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 p.D423Y(2) CCAAAATCAGGATTCCCATTC 0.537000 16 40 0 0 0.007413 0 0 ANKRD35 148741 broad.mit.edu 37 1 145555703 145555703 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:145555703G>A ENST00000355594.4 + 2 138 c.51G>A c.(49-51)tgG>tgA p.W17* ANKRD35_ENST00000544626.1_Nonsense_Mutation_p.W17* NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 17 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGGAGAGATGGAACCGCCATG 0.567000 6 52 0 0 0.003080 0 0 SPATA31A1 647060 broad.mit.edu 37 9 39361075 39361075 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:39361075C>T ENST00000377647.3 + 4 3342 c.3313C>T c.(3313-3315)Ccc>Tcc p.P1105S NM_001085452.1 NP_001078921.1 SPATA31 subfamily A, member 1 GCCAATGTTTCCCCCTATTCA 0.483000 91 176 0 0 0.003610 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21926060 21926060 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:21926060G>A ENST00000542643.2 - 23 2083 c.1781C>T c.(1780-1782)tCc>tTc p.S594F RAP1GAP_ENST00000374765.4_Missense_Mutation_p.S568F|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.S632F|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.S599F|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.S653F NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 568 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) ACTGGACGAGGAGCGGGAGAA 0.682000 13 18 0 0 0.001855 0 0 COL4A6 1288 broad.mit.edu 37 X 107424153 107424153 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:107424153C>T ENST00000394872.2 - 24 2231 c.2000G>A c.(1999-2001)gGa>gAa p.G667E COL4A6_ENST00000545689.1_Missense_Mutation_p.G666E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G666E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G666E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G667E Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 667 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GCCTGGAAATCCTGATGGACC 0.488000 Alport syndrome with Diffuse Leiomyomatosis 21 2 0 0 0.003954 0 0 SCAND3 114821 broad.mit.edu 37 6 28542714 28542714 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:28542714C>T ENST00000452236.2 - 3 2385 c.1768G>A c.(1768-1770)Gaa>Aaa p.E590K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 590 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 GGGCTTTTTTCAGCCACCTTA 0.363000 38 18 0 0 0.005524 0 0 CFHR3 10878 broad.mit.edu 37 1 196762501 196762501 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:196762501G>A ENST00000367425.4 + 6 943 c.851G>A c.(850-852)gGa>gAa p.G284E CFHR3_ENST00000391985.3_Missense_Mutation_p.G223E NM_021023.5 NP_066303.2 complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 AAGTTAAAAGGAAGAAGTGAC 0.259000 15 57 0 0 0.004007 0 0 MUC3A 4584 broad.mit.edu 37 7 100552270 100552270 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100552270G>A ENST00000319509.7 + 1 1021 c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCCATGTGTTGAAATGGATCC 0.473000 60 461 0 0 0.003610 0 0 ZNF274 10782 broad.mit.edu 37 19 58723952 58723952 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:58723952C>T ENST00000326804.4 + 9 1861 c.1402C>T c.(1402-1404)Cat>Tat p.H468Y ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.H436Y|ZNF274_ENST00000424679.2_Missense_Mutation_p.H363Y NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 469 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) TGTAAAAATTCATCAGAAGAG 0.378000 86 43 0 0 0.003610 0 0 DAGLA 747 broad.mit.edu 37 11 61504750 61504750 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:61504750C>T ENST00000257215.5 + 14 1584 c.1468C>T c.(1468-1470)Ccg>Tcg p.P490S NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 490 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CCCACAGTATCCGACCCTCAA 0.652000 69 183 0 0 0.003610 0 0 CLCNKB 1188 broad.mit.edu 37 1 16372084 16372084 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:16372084C>T ENST00000375679.4 + 3 243 c.132C>T c.(130-132)ttC>ttT p.F44F NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) AGAAGCTCTTCCGCCTGGGCG 0.642000 10 32 0 0 0.000978 0 0 INCENP 3619 broad.mit.edu 37 11 61906201 61906201 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:61906201C>A ENST00000394818.3 + 6 1334 c.1132C>A c.(1132-1134)Ccc>Acc p.P378T INCENP_ENST00000278849.4_Missense_Mutation_p.P378T NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 378 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GCAGAAGGAACCCCCCGAGGA 0.627000 10 28 2.17888e-05 3.5098e-05 0.006214 1 0 PTPRB 5787 broad.mit.edu 37 12 71016424 71016424 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:71016424C>T ENST00000334414.6 - 3 498 c.454G>A c.(454-456)Ggc>Agc p.G152S PTPRB_ENST00000551525.1_Missense_Mutation_p.G151S|PTPRB_ENST00000550358.1_Missense_Mutation_p.G152S|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GCTCCCAGGCCAGCTGAGGTA 0.403000 5 11 0 0 0.001168 0 0 TTC26 79989 broad.mit.edu 37 7 138819479 138819479 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:138819479C>T ENST00000464848.1 + 2 162 c.82C>T c.(82-84)Cca>Tca p.P28S TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.P28S|TTC26_ENST00000478836.2_Missense_Mutation_p.P28S|TTC26_ENST00000343187.4_Missense_Mutation_p.P28S|TTC26_ENST00000495038.1_Missense_Mutation_p.P28S|TTC26_ENST00000430935.1_Missense_Mutation_p.P28S A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 28 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 TAGGAAGATTCCAAAACTAGA 0.423000 16 47 0 0 0.003163 0 0 NLRP13 126204 broad.mit.edu 37 19 56443522 56443522 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:56443522G>A ENST00000588751.1 - 1 180 c.156C>T c.(154-156)ttC>ttT p.F52F NLRP13_ENST00000342929.3_Silent_p.F52F Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 52 DAPIN. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GGATACGCGGGAAGTGCCCCT 0.547000 75 37 0 0 0.003610 0 0 KNDC1 85442 broad.mit.edu 37 10 135025051 135025051 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:135025051T>C ENST00000304613.3 + 22 4055 c.4034T>C c.(4033-4035)cTa>cCa p.L1345P KNDC1_ENST00000368572.2_Missense_Mutation_p.L1347P Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1345 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CTGGGGAAGCTAGAGGACTTC 0.657000 10 61 0 0 0.002450 0 0 CCDC158 339965 broad.mit.edu 37 4 77292590 77292590 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:77292590C>T ENST00000388914.3 - 9 1281 c.1129G>A c.(1129-1131)Gat>Aat p.D377N NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 377 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TGAAGTTGATCATCTAAATTT 0.378000 5 14 0 0 0.001984 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140869593 140869593 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140869593C>T ENST00000252087.1 + 1 786 c.786C>T c.(784-786)ctC>ctT p.L262L PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 262 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGCTGCTCCGCCTCAATG 0.522000 96 89 0 0 0.003610 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887849 30887849 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:30887849C>T ENST00000392772.2 - 10 998 c.721G>A c.(721-723)Gag>Aag p.E241K SEC14L4_ENST00000540456.1_Missense_Mutation_p.E280K|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.E295K|SEC14L4_ENST00000255858.7_Missense_Mutation_p.E295K Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 295 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) AACAGGATCTCGTTCTCCACC 0.652000 17 1 0 0 0.007413 0 0 DRC1 92749 broad.mit.edu 37 2 26672863 26672863 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:26672863G>A ENST00000288710.2 + 12 1583 c.e12-1 NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) CTTCTCCCCAGGGGTTCCTCA 0.582000 10 12 0 0 0.001368 0 0 FUS 2521 broad.mit.edu 37 16 31201371 31201371 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:31201371C>T ENST00000254108.7 + 11 1182 c.1077C>T c.(1075-1077)ttC>ttT p.F359F FUS_ENST00000380244.3_Silent_p.F358F|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Silent_p.F360F NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 359 RRM. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) GTAAAGAATTCTCCGGAAATC 0.458000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 3 8 0 0 0.004672 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21795916 21795916 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:21795916G>A ENST00000206660.6 + 17 2845 c.2845G>A c.(2845-2847)Gac>Aac p.D949N RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D949N|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.D606N|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D308N|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.D275N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D911N Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 949 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GGATACCAAGGACAGTTCAAA 0.478000 20 22 0 0 0.001523 0 0 FLG 2312 broad.mit.edu 37 1 152282024 152282024 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:152282024C>T ENST00000368799.1 - 3 5373 c.5338G>A c.(5338-5340)Gga>Aga p.G1780R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1780 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGTGCGTCCATGGGCGGAC 0.602000 Ichthyosis 173 99 0 0 0.003610 0 0 YEATS2 55689 broad.mit.edu 37 3 183476713 183476713 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:183476713C>T ENST00000305135.5 + 13 1811 c.1616C>T c.(1615-1617)cCt>cTt p.P539L NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 539 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCCCCTGTTCCTAAAATTCAT 0.363000 25 52 0 0 0.003954 0 0 SLC45A3 85414 broad.mit.edu 37 1 205632453 205632453 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:205632453G>A ENST00000367145.3 - 3 761 c.466C>T c.(466-468)Cac>Tac p.H156Y NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 156 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TGGCGACAGTGGTCCGGGTCC 0.637000 T """ETV1, ETV5, ELK4, ERG""" prostate 5 44 0 0 0.001168 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004023 75004023 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:75004023G>A ENST00000373359.2 - 1 1056 c.864C>T c.(862-864)gcC>gcT p.A288A NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 288 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CACCTTCCAGGGCCTTATTAT 0.473000 17 33 0 0 0.004990 0 0 PUF60 22827 broad.mit.edu 37 8 144900409 144900409 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:144900409G>A ENST00000526683.1 - 7 1112 c.557C>T c.(556-558)gCc>gTc p.A186V PUF60_ENST00000349157.6_Missense_Mutation_p.A169V|PUF60_ENST00000453551.2_Missense_Mutation_p.A143V|PUF60_ENST00000313352.7_Missense_Mutation_p.A126V|PUF60_ENST00000456095.2_Missense_Mutation_p.A157V|PUF60_ENST00000527197.1_Missense_Mutation_p.A140V|PUF60_ENST00000524570.1_5'UTR NM_001271098.1|NM_078480.1 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 186 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 1. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CTGCTCCAAGGCCAGCTGTGC 0.657000 4 5 0 0 0.000602 0 0 KRBA1 84626 broad.mit.edu 37 7 149425632 149425632 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:149425632C>T ENST00000255992.10 + 12 1892 c.1493C>T c.(1492-1494)tCc>tTc p.S498F KRBA1_ENST00000319551.8_Missense_Mutation_p.S498F|KRBA1_ENST00000485033.2_Missense_Mutation_p.S498F|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 498 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCAGGAAGCTCCCCACTGCAG 0.577000 29 247 0 0 0.004289 0 0 GPRIN1 114787 broad.mit.edu 37 5 176026791 176026791 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176026791C>T ENST00000303991.4 - 2 222 c.45G>A c.(43-45)aaG>aaA p.K15K NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 15 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCTGGAATCCTTTTGAAGCA 0.627000 6 40 0 0 0.001984 0 0 TRPA1 8989 broad.mit.edu 37 8 72975757 72975757 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:72975757G>A ENST00000262209.4 - 5 809 c.602C>T c.(601-603)cCt>cTt p.P201L NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 201 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TTGGTGAATAGGGAAACATCC 0.348000 16 50 0 0 0.001216 0 0 TRBV10-1 28585 broad.mit.edu 37 7 142231754 142231754 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:142231754G>A ENST00000390364.3 - 0 230 AGGTCTTGTCGATACCAGAAC 0.488000 65 176 0 0 0.003610 0 0 UBL4B 164153 broad.mit.edu 37 1 110655204 110655204 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:110655204G>A ENST00000334179.3 + 1 143 c.48G>A c.(46-48)aaG>aaA p.K16K NM_203412.1 NP_981957.1 Q8N7F7 UBL4B_HUMAN ubiquitin-like 4B 16 Ubiquitin-like. cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 7 all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134) GCAGTCTGAAGGTGTCAGGGC 0.592000 21 38 0 0 0.001523 0 0 ZNF479 90827 broad.mit.edu 37 7 57194352 57194352 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:57194352C>T ENST00000331162.4 - 3 383 c.113G>A c.(112-114)cGg>cAg p.R38Q NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 38 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) ATATAAATTCCGCTGAGCACA 0.398000 31 109 0 0 0.006230 0 0 MYH1 4619 broad.mit.edu 37 17 10416027 10416027 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10416027C>T ENST00000226207.5 - 11 1073 c.979G>A c.(979-981)Gat>Aat p.D327N CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 327 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCTTGGTCATCAATGCTGGGC 0.418000 26 111 0 0 0.002096 0 0 WNT8A 7478 broad.mit.edu 37 5 137423581 137423581 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:137423581G>A ENST00000506684.1 + 3 618 c.382G>A c.(382-384)Gaa>Aaa p.E128K WNT8A_ENST00000398754.1_Missense_Mutation_p.E110K Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, member 8A 110 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGGTGACTTCGAAAACTGTGG 0.483000 29 128 0 0 0.007291 0 0 CPT1B 1375 broad.mit.edu 37 22 51011367 51011367 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:51011367G>T ENST00000360719.2 - 11 1426 c.1289C>A c.(1288-1290)cCc>cAc p.P430H CPT1B_ENST00000405237.3_Missense_Mutation_p.P430H|CPT1B_ENST00000434492.2_Missense_Mutation_p.P227H|CPT1B_ENST00000395650.2_Missense_Mutation_p.P430H|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.P430H|CPT1B_ENST00000457250.1_Missense_Mutation_p.P396H|CPT1B_ENST00000440709.1_Intron NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 430 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) CTCATCTTCGGGGTCATAGGA 0.572000 31 185 1.22384e-17 1.99307e-17 0.002836 1 0 PSD 5662 broad.mit.edu 37 10 104173805 104173805 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:104173805G>A ENST00000020673.5 - 5 1800 c.1274C>T c.(1273-1275)tCg>tTg p.S425L PSD_ENST00000406432.1_Missense_Mutation_p.S425L NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 425 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GGCCTCCAGCGAGGCGAGGCT 0.652000 29 19 0 0 0.002096 0 0 POLR3GL 84265 broad.mit.edu 37 1 145456714 145456714 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:145456714A>T ENST00000369314.1 - 8 686 c.580T>A c.(580-582)Tac>Aac p.Y194N POLR3GL_ENST00000369313.3_Missense_Mutation_p.Y171N NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 194 endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GACATGATGTAATCAGTTTCC 0.408000 42 107 0 0 0.003610 0 0 MPP6 51678 broad.mit.edu 37 7 24681479 24681479 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:24681479C>T ENST00000396475.2 + 4 561 c.262C>T c.(262-264)Cac>Tac p.H88Y MPP6_ENST00000222644.4_Missense_Mutation_p.H88Y|MPP6_ENST00000409761.1_5'UTR NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 88 L27 2. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 CAAAGAACCTCACTTCCAGGT 0.363000 32 73 0 0 0.003755 0 0 FAT2 2196 broad.mit.edu 37 5 150946879 150946879 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:150946879C>T ENST00000261800.5 - 1 1626 c.1614G>A c.(1612-1614)tgG>tgA p.W538* NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 538 Cadherin 4. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.W538C(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGGGGATCCCCAGTCTGATG 0.463000 81 27 0 0 0.003610 0 0 PSG5 5673 broad.mit.edu 37 19 43690509 43690509 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:43690509C>T ENST00000404580.1 - 1 137 c.49G>A c.(49-51)Ggg>Agg p.G17R PSG5_ENST00000407356.1_Missense_Mutation_p.G17R|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Missense_Mutation_p.G17R|PSG5_ENST00000407568.1_Missense_Mutation_p.G17R|PSG5_ENST00000366175.3_Missense_Mutation_p.G17R|PSG5_ENST00000342951.6_Missense_Mutation_p.G17R Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 17 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) AGCAGGAGCCCCTTCCAGGTG 0.587000 28 105 0 0 0.004878 0 0 MECOM 2122 broad.mit.edu 37 3 168813034 168813034 + Splice_Site SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:168813034C>G ENST00000464456.1 - 11 3459 c.e11-1 MECOM_ENST00000494292.1_Splice_Site|MECOM_ENST00000460814.1_Splice_Site|MECOM_ENST00000468789.1_Splice_Site|MECOM_ENST00000472280.1_Splice_Site|MECOM_ENST00000264674.3_Splice_Site|MECOM_ENST00000392736.3_Splice_Site|MECOM_ENST00000433243.2_Splice_Site NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus sequence-specific DNA binding transcription factor activity p.?(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GTATTTGCATCTGAAAAATAA 0.333000 4 23 0 0 0.000248 0 0 SLX4 84464 broad.mit.edu 37 16 3639858 3639858 + Missense_Mutation SNP G G A rs141860134 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:3639858G>A ENST00000294008.3 - 12 4421 c.3781C>T c.(3781-3783)Ccg>Tcg p.P1261S NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1261 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CTGGCCAGCGGGGTGGCGGGC 0.677000 Direct reversal of damage 12 35 0 0 0.002450 0 0 SLC38A4 55089 broad.mit.edu 37 12 47162189 47162189 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:47162189C>T ENST00000447411.1 - 15 1652 c.1444_splice c.e15-1 p.G482_splice SLC38A4_ENST00000266579.4_Splice_Site_p.G482_splice NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 482 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CAGAAGAAGCCCCTGAGAAGA 0.403000 4 23 0 0 0.000602 0 0 CDH11 1009 broad.mit.edu 37 16 65006808 65006808 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:65006808G>A ENST00000394156.3 - 9 1842 c.1390_splice c.e9+1 p.I463_splice CDH11_ENST00000268603.4_Splice_Site_p.I463_splice|CDH11_ENST00000566827.1_Splice_Site_p.I337_splice P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 463 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AATACTTACGGATTTCTGCTG 0.358000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 17 33 0 0 0.006122 0 0 RIPK3 11035 broad.mit.edu 37 14 24806151 24806151 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:24806151C>T ENST00000216274.5 - 9 1494 c.1275_splice c.e9-1 p.G426_splice RP11-934B9.3_ENST00000555591.1_Splice_Site_p.G100_splice NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 426 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) CTCTCAGCCCCCTGCAAACAG 0.542000 29 91 0 0 0.002445 0 0 BCAR1 9564 broad.mit.edu 37 16 75268959 75268959 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:75268959G>A ENST00000546196.1 - 5 3403 c.1751C>T c.(1750-1752)cCg>cTg p.P584L BCAR1_ENST00000538440.2_Missense_Mutation_p.P613L|BCAR1_ENST00000420641.3_Missense_Mutation_p.P631L|BCAR1_ENST00000418647.3_Missense_Mutation_p.P659L|BCAR1_ENST00000393420.6_Missense_Mutation_p.P631L|BCAR1_ENST00000162330.5_Missense_Mutation_p.P613L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P631L|BCAR1_ENST00000535626.2_Missense_Mutation_p.P465L|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000542031.2_Missense_Mutation_p.P611L P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 613 Ser-rich. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) CTCAGGCCCCGGGGCAGTGGC 0.677000 11 40 0 0 0.000673 0 0 CDH6 1004 broad.mit.edu 37 5 31323113 31323113 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:31323113G>A ENST00000265071.2 + 12 2336 c.2071G>A c.(2071-2073)Gac>Aac p.D691N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 691 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ATTACGAAGGGACATTGTGCC 0.498000 34 19 0 0 0.003271 0 0 KEAP1 9817 broad.mit.edu 37 19 10610578 10610578 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:10610578G>A ENST00000171111.5 - 2 679 c.132C>T c.(130-132)ccC>ccT p.P44P KEAP1_ENST00000393623.2_Silent_p.P44P NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 44 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CATGCTGGGAGGGCGTCACCT 0.642000 44 49 0 0 0.003610 0 0 SERPINB4 6318 broad.mit.edu 37 18 61306491 61306491 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:61306491C>T ENST00000341074.5 - 7 811 c.696G>A c.(694-696)ctG>ctA p.L232L SERPINB4_ENST00000356424.6_Intron NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 ATGGTATTTCCAGGACCTTGG 0.398000 21 51 0 0 0.001523 0 0 HNF4G 3174 broad.mit.edu 37 8 76470901 76470901 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:76470901T>A ENST00000396423.2 + 7 976 c.852T>A c.(850-852)gaT>gaA p.D284E HNF4G_ENST00000354370.1_Missense_Mutation_p.D247E NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 247 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TATTTTTTGATCCAGGTTGGT 0.308000 51 60 0 0 0.003610 0 0 POLQ 10721 broad.mit.edu 37 3 121208787 121208787 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:121208787A>C ENST00000264233.5 - 16 3119 c.2991T>G c.(2989-2991)aaT>aaG p.N997K NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 997 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) GCTTCTCTTTATTTATATCTA 0.363000 DNA polymerases (catalytic subunits) 17 54 0 0 0.006122 0 0 ZNF567 163081 broad.mit.edu 37 19 37210633 37210633 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:37210633C>T ENST00000585696.1 + 3 2144 c.914C>T c.(913-915)tCg>tTg p.S305L ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.S336L|ZNF567_ENST00000360729.4_Missense_Mutation_p.S305L|ZNF567_ENST00000392163.2_Missense_Mutation_p.S305L|ZNF567_ENST00000588311.1_Missense_Mutation_p.S305L Q8N184 ZN567_HUMAN zinc finger protein 567 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S305L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GGGGAGAAATCGTATGAATGT 0.458000 22 11 0 0 0.001882 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74876401 74876401 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:74876401G>A ENST00000331628.3 - 2 294 c.47C>T c.(46-48)cCt>cTt p.P16L SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.P16L NM_001105579.1 NP_001099049.1 A6NDD5 SYN1L_HUMAN synapse differentiation inducing 1-like 16 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 GAGATGGGCAGGGCTCCTGGG 0.657000 19 11 0 0 0.001882 0 0 IQSEC3 440073 broad.mit.edu 37 12 274933 274933 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:274933G>A ENST00000538872.1 + 11 2966 c.2848G>A c.(2848-2850)Ggc>Agc p.G950S IQSEC3_ENST00000326261.4_Missense_Mutation_p.G950S|IQSEC3_ENST00000382841.2_Missense_Mutation_p.G647S|RP11-598F7.5_ENST00000540136.1_RNA Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 950 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CCCGCTCTCGGGCTCCGAGAA 0.612000 6 26 0 0 0.003080 0 0 CD96 10225 broad.mit.edu 37 3 111297971 111297971 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:111297971G>A ENST00000352690.4 + 4 881 c.641G>A c.(640-642)aGa>aAa p.R214K CD96_ENST00000438817.2_Missense_Mutation_p.R214K|CD96_ENST00000283285.5_Missense_Mutation_p.R230K NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 230 Ig-like V-type 2. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 ACAGACTACAGACTCCACCTC 0.453000 Opitz Trigonocephaly syndrome 41 30 0 0 0.007835 0 0 PLCH1 23007 broad.mit.edu 37 3 155199919 155199919 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:155199919G>A ENST00000460012.1 - 23 4163 c.3806C>T c.(3805-3807)tCc>tTc p.S1269F PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1269F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1269F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1307F Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1307 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGTATTAGGGGATCCAGGCAG 0.493000 46 93 0 0 0.003214 0 0 RAET1G 353091 broad.mit.edu 37 6 150240791 150240791 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:150240791C>T ENST00000367360.2 - 2 314 c.247G>A c.(247-249)Gtc>Atc p.V83I RAET1G_ENST00000479265.1_Missense_Mutation_p.V83I NM_001001788.2 NP_001001788.2 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G 83 MHC class I alpha-1 like. antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1) 13 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) GCCGTTGTGACATTTAGTTTC 0.493000 45 102 0 0 0.003610 0 0 IL13 3596 broad.mit.edu 37 5 131995466 131995466 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:131995466C>T ENST00000304506.3 + 3 293 c.279C>T c.(277-279)atC>atT p.I93I AC004041.2_ENST00000435042.1_RNA|IL13_ENST00000468334.1_3'UTR NM_002188.2 NP_002179.2 P35225 IL13_HUMAN interleukin 13 93 cellular component movement|immune response|inflammatory response|signal transduction extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1)|ovary(1)|skin(3) 6 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCAGTGCCATCGAGAAGACCC 0.637000 47 31 0 0 0.003610 0 0 UGGT1 56886 broad.mit.edu 37 2 128936107 128936107 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:128936107C>T ENST00000375990.3 + 34 4110 c.3707C>T c.(3706-3708)tCc>tTc p.S1236F UGGT1_ENST00000259253.6_Missense_Mutation_p.S1260F Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 1260 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AATATTTTCTCCGTTGCATCT 0.338000 13 43 0 0 0.002450 0 0 TNN 63923 broad.mit.edu 37 1 175046593 175046593 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:175046593C>T ENST00000239462.4 + 2 152 c.39C>T c.(37-39)ctC>ctT p.L13L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 13 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTATGGGGCTCCTGCTTGGCT 0.567000 27 89 0 0 0.001786 0 0 NBPF18P 441908 broad.mit.edu 37 1 151992775 151992775 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:151992775G>A ENST00000432386.1 + 0 2440 NR_103561.1 ATTCAAGGACGAGAAGCTTGC 0.537000 28 212 0 0 0.002445 0 0 MROH5 389690 broad.mit.edu 37 8 142446109 142446109 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:142446109C>T ENST00000606664.1 + 0 1465 MROH5_ENST00000430863.1_RNA CCCTGTCTGCCATGGCCGCCA 0.677000 9 14 0 0 0.006214 0 0 NXPE4 54827 broad.mit.edu 37 11 114453476 114453476 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:114453476C>T ENST00000375478.3 - 3 544 c.364G>A c.(364-366)Gag>Aag p.E122K NXPE4_ENST00000424261.2_5'UTR NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 TCCCTCACCTCCAGCAGGATG 0.597000 15 9 0 0 0.004007 0 0 TRIM63 84676 broad.mit.edu 37 1 26393949 26393949 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:26393949G>A ENST00000374272.3 - 1 175 c.37C>T c.(37-39)Ccc>Tcc p.P13S TRIM63_ENST00000483052.1_5'UTR NM_032588.3 NP_115977.2 Q969Q1 TRI63_HUMAN tripartite motif containing 63, E3 ubiquitin protein ligase 13 cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) TTCTCCATGGGATTCCCATCC 0.522000 8 26 0 0 0.000673 0 0 GTF2I 2969 broad.mit.edu 37 7 74146864 74146864 + Missense_Mutation SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:74146864C>G ENST00000324896.4 + 15 1554 c.1165C>G c.(1165-1167)Ctt>Gtt p.L389V GTF2I_ENST00000346152.4_Missense_Mutation_p.L368V|GTF2I_ENST00000416070.1_Missense_Mutation_p.L348V|GTF2I_ENST00000353920.4_Missense_Mutation_p.L369V NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 389 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 CCCGTACCCTCTTTTCCAGTC 0.403000 79 62 0 0 0.003610 0 0 PGM1 5236 broad.mit.edu 37 1 64120033 64120033 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:64120033C>T ENST00000371083.4 + 10 1917 c.1549C>T c.(1549-1551)Cga>Tga p.R517* PGM1_ENST00000371084.3_Nonsense_Mutation_p.R499*|PGM1_ENST00000540265.1_Nonsense_Mutation_p.R302*|PGM1_ENST00000483707.1_3'UTR NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 499 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 AGATGGTTCTCGAATCGTCTT 0.517000 11 21 0 0 0.001368 0 0 TDRD10 126668 broad.mit.edu 37 1 154516548 154516548 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:154516548C>T ENST00000368482.4 + 9 1451 c.613C>T c.(613-615)Ccg>Tcg p.P205S TDRD10_ENST00000368480.3_Missense_Mutation_p.P205S|TDRD10_ENST00000479937.1_3'UTR NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 205 nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GAGTATCGTCCCGAAGACCCC 0.627000 36 63 0 0 0.004289 0 0 TMEM182 130827 broad.mit.edu 37 2 103414344 103414344 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:103414344C>T ENST00000412401.2 + 4 559 c.354C>T c.(352-354)gtC>gtT p.V118V TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_Silent_p.V22V|TMEM182_ENST00000409173.1_Silent_p.V75V NM_144632.3 NP_653233.3 Q6ZP80 TM182_HUMAN transmembrane protein 182 118 integral to membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 TCTGGGCAGTCCTGATGCTCC 0.488000 21 38 0 0 0.003954 0 0 CELSR1 9620 broad.mit.edu 37 22 46932281 46932281 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:46932281G>A ENST00000262738.3 - 1 786 c.787C>T c.(787-789)Ctc>Ttc p.L263F CELSR1_ENST00000395964.1_Missense_Mutation_p.L263F NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 263 Cadherin 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TGGAGGATGAGGGTGCCCGCC 0.662000 56 21 0 0 0.003610 0 0 RPL18A 6142 broad.mit.edu 37 19 17972996 17972996 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:17972996C>T ENST00000600147.1 + 3 328 c.292C>T c.(292-294)Cgg>Tgg p.R98W RPL18A_ENST00000599870.1_Missense_Mutation_p.R69W|RPL18A_ENST00000222247.5_Missense_Mutation_p.R98W|RPL18A_ENST00000599898.1_Missense_Mutation_p.R59W Q02543 RL18A_HUMAN ribosomal protein L18a 98 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 CCGGGAATACCGGGACCTGAC 0.612000 25 75 0 0 0.003954 0 0 OR5B3 441608 broad.mit.edu 37 11 58170330 58170330 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:58170330G>A ENST00000309403.2 - 1 552 c.553C>T c.(553-555)Ctc>Ttc p.L185F NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAGCAAGAGAGAACCATGACT 0.398000 24 27 0 0 0.002780 0 0 STAT4 6775 broad.mit.edu 37 2 191937854 191937854 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:191937854G>A ENST00000392320.2 - 5 749 c.435C>T c.(433-435)caC>caT p.H145H STAT4_ENST00000358470.4_Silent_p.H145H NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 145 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) CAGCCACTTTGTGCTCCACAT 0.403000 17 142 0 0 0.007413 0 0 ZNF366 167465 broad.mit.edu 37 5 71739929 71739929 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:71739929G>A ENST00000318442.5 - 5 2379 c.1889C>T c.(1888-1890)cCc>cTc p.P630L NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 630 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) AGGGCTGTAGGGCTCCACCTC 0.677000 18 179 0 0 0.001882 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214425 140214425 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140214425C>T ENST00000525929.1 + 1 457 c.457C>T c.(457-459)Cca>Tca p.P153S PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P153S|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018910.2 NP_061733.1 p.P153S(2) NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCGGTTTCCACTAGAGGG 0.557000 32 29 0 0 0.004289 0 0 C10orf113 387638 broad.mit.edu 37 10 21435389 21435389 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:21435389C>T ENST00000529198.1 - 1 99 c.49G>A c.(49-51)Gaa>Aaa p.E17K NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000534331.1_Missense_Mutation_p.E17K|C10orf113_ENST00000377118.4_Missense_Mutation_p.E7K NM_001177483.1 NP_001170954.1 Q5VZT2 CJ113_HUMAN chromosome 10 open reading frame 113 17 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 TCAGAAATTTCAGGTGCCATG 0.383000 15 28 0 0 0.004990 0 0 CA1 759 broad.mit.edu 37 8 86253846 86253846 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:86253846C>T ENST00000523953.1 - 3 1065 c.19G>A c.(19-21)Gga>Aga p.G7R CA1_ENST00000542576.1_Missense_Mutation_p.G7R|CA1_ENST00000431316.1_Missense_Mutation_p.G7R|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000256119.5_Missense_Mutation_p.G7R|CA1_ENST00000522389.1_5'UTR|CA1_ENST00000432364.2_Missense_Mutation_p.G7R|CA1_ENST00000523022.1_Missense_Mutation_p.G7R P00915 CAH1_HUMAN carbonic anhydrase I 7 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) TCATCATATCCCCAGTCTGGA 0.328000 16 51 0 0 0.007413 0 0 ERC2 26059 broad.mit.edu 37 3 55733504 55733504 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:55733504C>T ENST00000288221.6 - 16 3004 c.2749G>A c.(2749-2751)Gat>Aat p.D917N NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 917 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) tggtCATCATCATAGTTGTCT 0.498000 50 145 0 0 0.003610 0 0 C19orf44 84167 broad.mit.edu 37 19 16611668 16611668 + Missense_Mutation SNP C C T rs146198206 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:16611668C>T ENST00000221671.3 + 2 221 c.65C>T c.(64-66)tCc>tTc p.S22F CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.S22F NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 22 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 AGTGATGTTTCCTTGGAAGAT 0.408000 27 86 0 0 0.001512 0 0 KCNG4 93107 broad.mit.edu 37 16 84270818 84270818 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:84270818G>A ENST00000568181.1 - 2 394 c.274C>T c.(274-276)Cgg>Tgg p.R92W KCNG4_ENST00000308251.4_Missense_Mutation_p.R92W Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 92 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 TCGTAGCTCCGACAGAGCCTG 0.612000 16 49 0 0 0.004990 0 0 MCM7 4176 broad.mit.edu 37 7 99693582 99693582 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:99693582G>A ENST00000303887.5 - 11 2055 c.1410C>T c.(1408-1410)gcC>gcT p.A470A MCM7_ENST00000354230.3_Silent_p.A294A|MCM7_ENST00000343023.6_Intron NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 470 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) TGCCGGCCTTGGCAATGGAGA 0.622000 21 63 0 0 0.001216 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192412 132192412 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:132192412C>T ENST00000359827.3 - 2 2003 c.1041G>A c.(1039-1041)atG>atA p.M347I PLXNA4_ENST00000423507.2_Missense_Mutation_p.M347I|PLXNA4_ENST00000378539.5_Missense_Mutation_p.M347I|PLXNA4_ENST00000321063.4_Missense_Mutation_p.M347I Q9HCM2 PLXA4_HUMAN plexin A4 347 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CCAGGGATTTCATTTTCCGCT 0.567000 58 38 0 0 0.003610 0 0 RERG 85004 broad.mit.edu 37 12 15262375 15262375 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:15262375C>T ENST00000256953.2 - 5 605 c.269G>A c.(268-270)gGa>gAa p.G90E RERG_ENST00000538313.1_Missense_Mutation_p.G90E|RERG_ENST00000546331.1_Missense_Mutation_p.G71E|RERG_ENST00000536465.1_Missense_Mutation_p.G90E NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 90 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 CTCAAAACTTCCTCGGTCAGT 0.478000 43 283 0 0 0.003610 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76572047 76572047 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:76572047G>A ENST00000307431.8 + 20 3412 c.3027G>A c.(3025-3027)gtG>gtA p.V1009V CNTNAP4_ENST00000476707.1_Silent_p.V1013V|CNTNAP4_ENST00000377504.4_Silent_p.V961V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.V937V NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1010 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GCTCATCCGTGATATACAATT 0.289000 4 13 0 0 0.000248 0 0 FRYL 285527 broad.mit.edu 37 4 48581195 48581195 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:48581195G>A ENST00000537810.1 - 23 2927 c.2323C>T c.(2323-2325)Cct>Tct p.P775S FRYL_ENST00000507711.1_Missense_Mutation_p.P775S|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.P775S|FRYL_ENST00000358350.4_Missense_Mutation_p.P775S O94915 FRYL_HUMAN FRY-like 775 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TGGCTAATAGGAGAAGAGTTC 0.378000 5 26 0 0 0.001984 0 0 IGSF1 3547 broad.mit.edu 37 X 130415714 130415714 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:130415714C>T ENST00000370904.1 - 14 2334 c.1424G>A c.(1423-1425)tGc>tAc p.C475Y IGSF1_ENST00000370903.3_Missense_Mutation_p.C484Y|IGSF1_ENST00000361420.3_Missense_Mutation_p.C484Y|IGSF1_ENST00000370910.1_Missense_Mutation_p.C475Y Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 484 Ig-like C2-type 5. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GCGATAGCTGCAACTGTAGGT 0.478000 43 1 0 0 0.003214 0 0 HDAC9 9734 broad.mit.edu 37 7 18801862 18801862 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:18801862C>T ENST00000406451.3 + 15 2267 c.2117C>T c.(2116-2118)cCc>cTc p.P706L HDAC9_ENST00000432645.2_Missense_Mutation_p.P706L|HDAC9_ENST00000441542.2_Missense_Mutation_p.P709L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P665L NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 706 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GGCACCAACCCCCTGGACGGA 0.502000 8 49 0 0 0.004482 0 0 VPS13C 54832 broad.mit.edu 37 15 62161787 62161787 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:62161787C>T ENST00000261517.5 - 80 10733 c.10660G>A c.(10660-10662)Gga>Aga p.G3554R VPS13C_ENST00000249837.3_Missense_Mutation_p.G3511R|VPS13C_ENST00000395896.4_Missense_Mutation_p.G3554R|VPS13C_ENST00000395898.3_Missense_Mutation_p.G3511R NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3554 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TTTCCAATTCCTTTAAAGAAT 0.438000 34 88 0 0 0.006999 0 0 ATP2B4 493 broad.mit.edu 37 1 203667392 203667392 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:203667392C>T ENST00000357681.5 + 3 1424 c.301C>T c.(301-303)Ctt>Ttt p.L101F ATP2B4_ENST00000391954.2_Missense_Mutation_p.L101F|ATP2B4_ENST00000367219.3_Missense_Mutation_p.L101F|ATP2B4_ENST00000367218.3_Missense_Mutation_p.L101F|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L101F NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 101 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GTGGGAAGCTCTTCAAGATGT 0.498000 26 74 0 0 0.004656 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995510 140995510 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:140995510C>T ENST00000285879.4 + 4 2606 c.2320C>T c.(2320-2322)Cct>Tct p.P774S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 774 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGCTCAGTCTCCTCTCCAGAG 0.557000 HNSCC(15;0.026) 106 20 0 0 0.003610 0 0 GRM7 2917 broad.mit.edu 37 3 7620192 7620192 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:7620192G>A ENST00000486284.1 + 8 1873 c.1599G>A c.(1597-1599)aaG>aaA p.K533K GRM7_ENST00000403881.1_Silent_p.K533K|GRM7_ENST00000357716.4_Silent_p.K533K|GRM7_ENST00000389336.4_Silent_p.K533K|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.K533K NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 533 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GACAGAGAAAGAAGACACAGA 0.483000 23 47 0 0 0.002780 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527784 65527784 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:65527784G>A ENST00000310193.3 - 4 1029 c.856C>T c.(856-858)Cat>Tat p.H286Y CYP7B1_ENST00000523954.1_5'UTR NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 286 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AAGCCTAAATGATGTGCTGGG 0.423000 7 12 0 0 0.003080 0 0 GCKR 2646 broad.mit.edu 37 2 27722064 27722064 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:27722064G>A ENST00000264717.2 + 6 547 c.484G>A c.(484-486)Gaa>Aaa p.E162K GCKR_ENST00000424318.2_Intron NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 162 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) CGGGATTGAGGAACTGAAGAA 0.512000 12 32 0 0 0.003163 0 0 OLFML2B 25903 broad.mit.edu 37 1 161970019 161970019 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:161970019G>A ENST00000294794.3 - 5 1256 c.833C>T c.(832-834)cCc>cTc p.P278L OLFML2B_ENST00000367940.2_Missense_Mutation_p.P279L NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 278 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CCTCTGCAGGGGCCGCTGTGA 0.597000 53 24 0 0 0.003610 0 0 IMPG1 3617 broad.mit.edu 37 6 76751784 76751784 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:76751784C>T ENST00000369950.3 - 2 316 c.127G>A c.(127-129)Gaa>Aaa p.E43K IMPG1_ENST00000369963.3_Intron NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 43 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TCAGTTGTTTCATTTCTTGGG 0.323000 19 43 0 0 0.001882 0 0 SLC22A14 9389 broad.mit.edu 37 3 38348823 38348823 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:38348823C>T ENST00000273173.4 + 2 686 c.595C>T c.(595-597)Ctc>Ttc p.L199F SLC22A14_ENST00000448498.1_Missense_Mutation_p.L199F NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 199 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GATAGGCTCTCTCATCTTCAG 0.537000 30 25 0 0 0.003271 0 0 UPF3B 65109 broad.mit.edu 37 X 118971902 118971902 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:118971902G>A ENST00000276201.2 - 10 1189 c.1120C>T c.(1120-1122)Cgt>Tgt p.R374C UPF3B_ENST00000345865.2_Missense_Mutation_p.R361C NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 374 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 TTCTGCCTACGGCGCTCTTCT 0.468000 65 13 0 0 0.003610 0 0 C12orf44 60673 broad.mit.edu 37 12 52470668 52470668 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:52470668C>T ENST00000336854.4 + 4 829 c.351C>T c.(349-351)atC>atT p.I117I RP11-1100L3.7_ENST00000550301.1_RNA NM_001098673.1|NM_021934.4 NP_001092143.1|NP_068753.2 Q9BSB4 ATGA1_HUMAN chromosome 12 open reading frame 44 117 autophagic vacuole assembly pre-autophagosomal structure identical protein binding|protein complex binding endometrium(1)|lung(2)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(357;0.0978) ACGAGTGCATCCCATGGGAAG 0.592000 17 48 0 0 0.006122 0 0 ZNF702P 79986 broad.mit.edu 37 19 53473696 53473696 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:53473696G>A ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA AGGAATACAAGAAATTCTTTG 0.373000 29 19 0 0 0.005443 0 0 MYT1 4661 broad.mit.edu 37 20 62853301 62853301 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:62853301C>T ENST00000536311.1 + 14 2742 c.2378C>T c.(2377-2379)tCg>tTg p.S793L MYT1_ENST00000360149.4_Missense_Mutation_p.S468L|MYT1_ENST00000328439.1_Missense_Mutation_p.S766L Q01538 MYT1_HUMAN myelin transcription factor 1 766 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S766L(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CAGGAAGTGTCGGAAGAGAAT 0.502000 23 37 0 0 0.002299 0 0 CCDC148 130940 broad.mit.edu 37 2 159201738 159201738 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:159201738C>T ENST00000283233.5 - 3 553 c.240G>A c.(238-240)ctG>ctA p.L80L CCDC148_ENST00000536771.1_Intron|CCDC148_ENST00000409187.1_Silent_p.L89L|CCDC148_ENST00000409889.1_Silent_p.L80L NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 80 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TGACTTCATTCAGCCTCTGGT 0.368000 46 85 0 0 0.003610 0 0 MYH1 4619 broad.mit.edu 37 17 10415456 10415456 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10415456C>T ENST00000226207.5 - 13 1295 c.1201G>A c.(1201-1203)Gcc>Acc p.A401T CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 401 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TAGCAGAGGGCTTTGAGCAGA 0.473000 57 128 0 0 0.003610 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692180 31692180 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:31692180C>T ENST00000360542.3 - 1 427 c.174G>A c.(172-174)gaG>gaA p.E58E NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 58 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 CACCGCAGGTCTCTTGGCAGT 0.567000 33 54 0 0 0.004878 0 0 SNHG14 104472715 broad.mit.edu 37 15 25227242 25227242 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:25227242C>T ENST00000551631.2 + 0 545 SNHG14_ENST00000551361.1_RNA NR_001293.1 CTAGACTTTTCGATTTCAAGA 0.348000 75 64 0 0 0.003610 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627398 21627398 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:21627398G>A ENST00000425654.2 + 19 2745 c.2265G>A c.(2263-2265)caG>caA p.Q755Q CNKSR2_ENST00000379510.3_Silent_p.Q785Q|CNKSR2_ENST00000543067.1_Silent_p.Q736Q|CNKSR2_ENST00000279451.4_Silent_p.Q785Q NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 785 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ACTATCTTCAGACTCTGCCCC 0.572000 53 10 0 0 0.003610 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125284989 125284989 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:125284989G>A ENST00000431078.1 + 10 1966 c.1602G>A c.(1600-1602)ggG>ggA p.G534G NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 534 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GTTCCCTGGGGAATTTTAGTG 0.423000 21 64 0 0 0.001216 0 0 LAPTM4A 9741 broad.mit.edu 37 2 20232983 20232983 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:20232983G>A ENST00000175091.4 - 7 1192 c.685C>T c.(685-687)Cct>Tct p.P229S NM_014713.4 NP_055528.1 Q15012 LAP4A_HUMAN lysosomal protein transmembrane 4 alpha 229 Poly-Pro. transport endomembrane system|Golgi apparatus|integral to membrane endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTAAGTAAGGAGGTGGTGGT 0.363000 19 47 0 0 0.002299 0 0 LAMA3 3909 broad.mit.edu 37 18 21534610 21534610 + Nonstop_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:21534610T>C ENST00000313654.9 + 75 10241 c.10000T>C c.(10000-10002)Taa>Caa p.*3334Q LAMA3_ENST00000399516.3_Nonstop_Mutation_p.*3278Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonstop_Mutation_p.*1669Q|LAMA3_ENST00000269217.6_Nonstop_Mutation_p.*1725Q NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 0 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCTGACCAGTAACCCAAGCC 0.498000 58 41 0 0 0.003610 0 0 INTS4P1 285905 broad.mit.edu 37 7 64643370 64643370 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:64643370C>T ENST00000587624.1 + 0 777 CAGAGATATTCGAGAGGCTCT 0.398000 17 6 0 0 0.002299 0 0 LALBA 3906 broad.mit.edu 37 12 48963761 48963761 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:48963761G>A ENST00000549817.1 - 1 88 c.43C>T c.(43-45)Cct>Tct p.P15S LALBA_ENST00000301046.2_Missense_Mutation_p.P15S P00709 LALBA_HUMAN lactalbumin, alpha- 15 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 AGGATGGCAGGGAACAGGATG 0.468000 145 37 0 0 0.003610 0 0 MAPK10 5602 broad.mit.edu 37 4 86988960 86988960 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:86988960G>A ENST00000395169.3 - 10 1557 c.837C>T c.(835-837)ctC>ctT p.L279L MAPK10_ENST00000361569.2_Silent_p.L317L|MAPK10_ENST00000395157.3_Silent_p.L172L|MAPK10_ENST00000395161.2_Silent_p.L317L|MAPK10_ENST00000449047.2_Silent_p.L172L|MAPK10_ENST00000395166.1_Silent_p.L279L|MAPK10_ENST00000395160.3_Silent_p.L172L|MAPK10_ENST00000359221.3_Silent_p.L317L NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 317 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) CCGCTGGGAAGAGGGAATCTG 0.483000 9 17 0 0 0.006214 0 0 CDH6 1004 broad.mit.edu 37 5 31317540 31317540 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:31317540C>T ENST00000265071.2 + 10 1836 c.1571C>T c.(1570-1572)tCg>tTg p.S524L CDH6_ENST00000514738.1_Missense_Mutation_p.S469L NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 524 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CACCAATTTTCGTTTTCCTTG 0.403000 48 26 0 0 0.003610 0 0 FAM83A 84985 broad.mit.edu 37 8 124206276 124206276 + Missense_Mutation SNP C C T rs149619029 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:124206276C>T ENST00000518448.1 + 4 2675 c.661C>T c.(661-663)Cgg>Tgg p.R221W FAM83A_ENST00000546351.1_Missense_Mutation_p.R165W|FAM83A_ENST00000536633.1_Missense_Mutation_p.R221W|FAM83A_ENST00000318462.6_Missense_Mutation_p.R221W|FAM83A_ENST00000276699.6_Missense_Mutation_p.R221W|FAM83A_ENST00000522648.1_Missense_Mutation_p.R165W Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 221 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CATTTCCATCCGGAGTGTGGA 0.453000 16 26 0 0 0.004990 0 0 MYO1A 4640 broad.mit.edu 37 12 57424075 57424075 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57424075G>A ENST00000442789.2 - 25 2797 c.2510C>T c.(2509-2511)tCc>tTc p.S837F MYO1A_ENST00000544473.1_Missense_Mutation_p.S675F|MYO1A_ENST00000300119.3_Missense_Mutation_p.S837F NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 837 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 CTGCTTCGGGGACAGCTGATC 0.562000 24 196 0 0 0.001512 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906936 164906936 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:164906936C>T ENST00000475390.1 - 2 2126 c.1683G>A c.(1681-1683)gaG>gaA p.E561E SLITRK3_ENST00000241274.3_Silent_p.E561E O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 561 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CCCAAGGATTCTCATTGAGGT 0.532000 HNSCC(40;0.11) 13 41 0 0 0.003163 0 0 SCN2A 6326 broad.mit.edu 37 2 166201295 166201295 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:166201295C>T ENST00000375437.2 + 16 3083 c.2793C>T c.(2791-2793)tcC>tcT p.S931S SCN2A_ENST00000283256.6_Silent_p.S931S|SCN2A_ENST00000375427.2_Silent_p.S931S|SCN2A_ENST00000357398.3_Silent_p.S931S NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 931 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTTTCCACTCCTTCCTGATCG 0.498000 31 61 0 0 0.001786 0 0 C14orf166B 145497 broad.mit.edu 37 14 77318763 77318763 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:77318763G>A ENST00000393774.3 + 8 907 c.783G>A c.(781-783)agG>agA p.R261R C14orf166B_ENST00000450042.2_3'UTR NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 261 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) TCCACACAAGGGGAGCTGTGG 0.582000 10 1 0 0 0.006214 0 0 SPTBN2 6712 broad.mit.edu 37 11 66472485 66472485 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:66472485G>A ENST00000533211.1 - 15 2593 c.2262C>T c.(2260-2262)gcC>gcT p.A754A SPTBN2_ENST00000309996.2_Silent_p.A754A|SPTBN2_ENST00000529997.1_Silent_p.A754A O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 754 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CGTTTGCATCGGCCTGGAACT 0.677000 22 9 0 0 0.001523 0 0 UFL1 23376 broad.mit.edu 37 6 97001327 97001327 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:97001327C>T ENST00000369278.4 + 19 2399 c.2333C>T c.(2332-2334)tCc>tTc p.S778F NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 778 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity CTTTCTTCATCCATTAAAGAC 0.363000 8 16 0 0 0.000978 0 0 NF1 4763 broad.mit.edu 37 17 29548867 29548867 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:29548867G>A ENST00000358273.4 + 15 2024 c.e15-1 NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(5) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAAAAATTCAGGCTCTGCTGG 0.313000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 7 35 0 0 0.003080 0 0 SLC36A1 206358 broad.mit.edu 37 5 150867587 150867587 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:150867587C>T ENST00000243389.3 + 11 1426 c.1203C>T c.(1201-1203)tcC>tcT p.S401S SLC36A1_ENST00000520701.1_Silent_p.S401S NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 401 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) TGGTCATCTCCCTGGTGGGCT 0.617000 37 16 0 0 0.002222 0 0 SLC29A4 222962 broad.mit.edu 37 7 5334530 5334530 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:5334530C>T ENST00000396872.2 + 6 745 c.584C>T c.(583-585)cCc>cTc p.P195L SLC29A4_ENST00000406453.3_Missense_Mutation_p.P181L|SLC29A4_ENST00000297195.4_Missense_Mutation_p.P195L NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 195 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GGGATGCTGCCCAAGCGGTAC 0.597000 107 123 0 0 0.003610 0 0 SEC16B 89866 broad.mit.edu 37 1 177937101 177937101 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:177937101G>A ENST00000308284.6 - 2 105 c.16C>T c.(16-18)Ccc>Tcc p.P6S RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.P6S|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.P6S NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 6 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 AGCCTCTGGGGAGCCCAAAGT 0.498000 7 26 0 0 0.004482 0 0 RBFOX1 54715 broad.mit.edu 37 16 7743345 7743345 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:7743345G>A ENST00000547372.1 + 15 1459 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E299K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E359K|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E363K|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000553186.1_Intron Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 51 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TGCAGCAGATGAAATTTCTTG 0.398000 23 45 0 0 0.006320 0 0 ITGA2B 3674 broad.mit.edu 37 17 42449737 42449737 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:42449737C>T ENST00000262407.5 - 30 3146 c.3115G>A c.(3115-3117)Gag>Aag p.E1039K ITGA2B_ENST00000353281.4_Missense_Mutation_p.E1005K NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 1039 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CACCATCACTCCCCCTCTTCA 0.577000 14 32 0 0 0.006122 0 0 HID1 283987 broad.mit.edu 37 17 72954853 72954853 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:72954853G>A ENST00000425042.2 - 10 1232 c.1155C>T c.(1153-1155)ttC>ttT p.F385F NM_030630.2 NP_085133.1 HID1 domain containing CGAAGAAGAGGAATTTCTAGG 0.617000 OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 11 0 0 0.002450 0 0 BCAM 4059 broad.mit.edu 37 19 45316839 45316839 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:45316839G>A ENST00000391955.1 + 6 790 c.746G>A c.(745-747)gGc>gAc p.G249D BCAM_ENST00000270233.6_Missense_Mutation_p.G249D P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 249 Ig-like V-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GGCCGCCACGGCCGCCTGGAC 0.667000 52 99 0 0 0.003610 0 0 DYSF 8291 broad.mit.edu 37 2 71825763 71825763 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:71825763C>T ENST00000258104.3 + 33 3867 c.3590C>T c.(3589-3591)cCc>cTc p.P1197L DYSF_ENST00000409582.3_Missense_Mutation_p.P1214L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1198L|DYSF_ENST00000429174.2_Missense_Mutation_p.P1197L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1214L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.P1228L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1215L|DYSF_ENST00000410020.3_Missense_Mutation_p.P1215L|DYSF_ENST00000409744.1_Missense_Mutation_p.P1184L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1229L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1198L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1197 C2 4. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ACCCTTAACCCCACCTGGGAC 0.597000 10 37 0 0 0.006214 0 0 CHIT1 1118 broad.mit.edu 37 1 203186116 203186116 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:203186116C>T ENST00000367229.1 - 11 1336 c.1302G>A c.(1300-1302)cgG>cgA p.R434R CHIT1_ENST00000255427.3_Silent_p.R415R|CHIT1_ENST00000535569.1_Silent_p.R425R|CHIT1_ENST00000484834.1_Intron NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 434 Chitin-binding type-2. chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 AGAAGCTGGACCGTTCCCGAG 0.597000 OREG0014113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 53 0 0 0.003610 0 0 BOD1L2 284257 broad.mit.edu 37 18 54814880 54814880 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:54814880G>A ENST00000585477.1 + 1 588 c.337G>A c.(337-339)Gaa>Aaa p.E113K NM_001257964.1 NP_001244893.1 biorientation of chromosomes in cell division 1-like 2 AGGGAGGTCAGAAGCTGGAGT 0.483000 11 33 0 0 0.001368 0 0 GRIP1 23426 broad.mit.edu 37 12 66849287 66849287 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:66849287G>A ENST00000359742.4 - 11 1496 c.1256C>T c.(1255-1257)tCc>tTc p.S419F GRIP1_ENST00000286445.7_Missense_Mutation_p.S419F|GRIP1_ENST00000398016.3_Missense_Mutation_p.S367F Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 419 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CATGTTCAGGGAACTCAGGCT 0.507000 48 268 0 0 0.003610 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33406562 33406562 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:33406562C>T ENST00000418600.2 + 10 1643 c.1542C>T c.(1540-1542)atC>atT p.I514I SYNGAP1_ENST00000293748.5_Silent_p.I514I|SYNGAP1_ENST00000428982.2_Silent_p.I455I|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 514 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GAGAATTCATCCGTGCTCTGT 0.557000 101 138 0 0 0.003610 0 0 ERCC6 2074 broad.mit.edu 37 10 50682237 50682237 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:50682237A>T ENST00000355832.5 - 13 2512 c.2434T>A c.(2434-2436)Ttt>Att p.F812I ERCC6_ENST00000542458.1_Missense_Mutation_p.F182I NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 812 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CCTCCAGAAAAGAGATCAGGG 0.408000 Direct reversal of damage;Nucleotide excision repair (NER) 13 57 0 0 0.006122 0 0 PLA2G16 11145 broad.mit.edu 37 11 63357705 63357705 + Missense_Mutation SNP G G A rs141685584 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:63357705G>A ENST00000323646.5 - 3 608 c.254C>T c.(253-255)tCg>tTg p.S85L PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_Missense_Mutation_p.S85L NM_007069.3 NP_009000.2 P53816 PAG16_HUMAN phospholipase A2, group XVI 85 lipid catabolic process integral to membrane|perinuclear region of cytoplasm hydrolase activity|protein binding kidney(2)|lung(1)|ovary(1)|skin(1) 5 GGGCAGCGGCGAGTACTTGTC 0.547000 43 25 0 0 0.002852 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032313 10032313 + Silent SNP G G A rs113636131 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:10032313G>A ENST00000396573.2 - 4 819 c.510C>T c.(508-510)ttC>ttT p.F170F GRIN2A_ENST00000404927.2_Silent_p.F170F|GRIN2A_ENST00000396575.2_Silent_p.F170F|GRIN2A_ENST00000330684.3_Silent_p.F170F|GRIN2A_ENST00000535259.1_Silent_p.F13F|GRIN2A_ENST00000562109.1_Silent_p.F170F|GRIN2A_ENST00000566670.1_5'UTR NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 170 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCACCAGGGAGAAGACATGCC 0.527000 13 47 0 0 0.001855 0 0 PSD4 23550 broad.mit.edu 37 2 113955447 113955447 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:113955447C>T ENST00000245796.6 + 14 2776 c.2581C>T c.(2581-2583)Cag>Tag p.Q861* PSD4_ENST00000441564.2_Nonsense_Mutation_p.Q832* NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 861 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCACGTCTTCCAGCTGCGCAC 0.657000 6 18 0 0 0.001984 0 0 SLC15A2 6565 broad.mit.edu 37 3 121615323 121615323 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:121615323C>T ENST00000489711.1 + 2 564 c.176C>T c.(175-177)tCc>tTc p.S59F SLC15A2_ENST00000295605.2_Missense_Mutation_p.S59F NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 59 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GAGCGCTTTTCCTATTATGGA 0.448000 23 47 0 0 0.004656 0 0 HELB 92797 broad.mit.edu 37 12 66703831 66703831 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:66703831C>T ENST00000247815.4 + 4 1182 c.1123C>T c.(1123-1125)Cct>Tct p.P375S NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 375 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) GAAGAAACCTCCTTGGCATTT 0.438000 50 568 0 0 0.003610 0 0 ELAC1 55520 broad.mit.edu 37 18 48510681 48510681 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:48510681C>T ENST00000269466.3 + 3 480 c.373C>T c.(373-375)Cct>Tct p.P125S RP11-729L2.2_ENST00000588256.1_Intron|ELAC1_ENST00000591429.1_Missense_Mutation_p.P125S|ELAC1_ENST00000588577.1_Intron|SMAD4_ENST00000452201.2_Intron|RP11-729L2.2_ENST00000590722.2_Intron NM_018696.2 NP_061166.1 Q9H777 RNZ1_HUMAN elaC ribonuclease Z 1 125 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) TGAACTGGTTCCTACAGCAGA 0.463000 17 52 0 0 0.004007 0 0 TRAV6 6956 broad.mit.edu 37 14 22237194 22237194 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22237194G>A ENST00000390428.3 + 0 278 ACTCATACGTGAAAATGAGAA 0.453000 44 49 0 0 0.002522 0 0 TTN 7273 broad.mit.edu 37 2 179613473 179613473 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179613473C>T ENST00000360870.5 - 46 13876 c.13654G>A c.(13654-13656)Gaa>Aaa p.E4552K TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 684 Ig-like 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTATTTTTTCCTGTTGTTCC 0.313000 16 26 0 0 0.004990 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370093 35370093 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:35370093C>T ENST00000373347.1 - 3 1160 c.892G>A c.(892-894)Gac>Aac p.D298N DLGAP3_ENST00000235180.4_Missense_Mutation_p.D298N O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 298 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) AAGCTCAAGTCCCGGTAGGAC 0.647000 20 36 0 0 0.001216 0 0 APOB 338 broad.mit.edu 37 2 21231534 21231534 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:21231534G>A ENST00000233242.1 - 26 8333 c.8206C>T c.(8206-8208)Ctt>Ttt p.L2736F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2736 Missing (in Ref. 15; AAA51758). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGTATGTGAAGGTCAGGAACT 0.408000 321 258 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9069548 9069548 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9069548C>T ENST00000397910.4 - 3 18101 c.17898G>A c.(17896-17898)agG>agA p.R5966R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5968 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTATGGTCTTCCTCCTGCCAG 0.488000 25 42 0 0 0.003330 0 0 TAP2 6891 broad.mit.edu 37 6 32782291 32782291 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32782291G>A ENST00000452392.2 - 14 2443 c.2270C>T c.(2269-2271)cCa>cTa p.P757L HLA-DOB_ENST00000438763.2_Missense_Mutation_p.P150L Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding GATATCCCCTGGATAGAAGCC 0.547000 38 223 0 0 0.004878 0 0 EPS15L1 58513 broad.mit.edu 37 19 16547763 16547763 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:16547763G>A ENST00000597937.1 - 6 361 c.357C>T c.(355-357)gcC>gcT p.A119A EPS15L1_ENST00000535753.2_Silent_p.A119A|EPS15L1_ENST00000594975.1_Silent_p.A119A|EPS15L1_ENST00000248070.6_Silent_p.A119A|EPS15L1_ENST00000455140.2_Silent_p.A119A NM_001258376.1 NP_001245305.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 119 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 CAGCCCAGTGGGCCTCTGCAG 0.502000 32 31 0 0 0.006999 0 0 PTPRS 5802 broad.mit.edu 37 19 5225815 5225815 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:5225815G>A ENST00000372412.4 - 17 2653 c.2420C>T c.(2419-2421)tCc>tTc p.S807F PTPRS_ENST00000587303.1_Missense_Mutation_p.S806F|PTPRS_ENST00000262963.6_Missense_Mutation_p.S802F|PTPRS_ENST00000348075.2_Missense_Mutation_p.S784F|PTPRS_ENST00000357368.4_Missense_Mutation_p.S806F|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.S784F Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 806 Fibronectin type-III 5. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TACCGTGATGGAGTACGCGGT 0.647000 5 20 0 0 0.000602 0 0 OR13H1 347468 broad.mit.edu 37 X 130678432 130678432 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:130678432C>T ENST00000338616.3 + 1 483 c.385C>T c.(385-387)Ccc>Tcc p.P129S NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TATCAGCAATCCCCTGCGTTA 0.532000 94 14 0 0 0.003610 0 0 ERRFI1 54206 broad.mit.edu 37 1 8073389 8073389 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:8073389G>A ENST00000377482.5 - 4 1493 c.1270C>T c.(1270-1272)Cag>Tag p.Q424* ERRFI1_ENST00000474874.1_Intron NM_018948.3 NP_061821.1 Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 424 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2) 16 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) GGTAATGGCTGGATTTGGGCG 0.423000 25 15 0 0 0.002780 0 0 ITGA1 3672 broad.mit.edu 37 5 52221138 52221138 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:52221138G>A ENST00000282588.6 + 19 2892 c.2434G>A c.(2434-2436)Gaa>Aaa p.E812K NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 812 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TGGAAATAAGGAAAAATGTAT 0.398000 5 77 0 0 0.001984 0 0 CLN3 1201 broad.mit.edu 37 16 28498850 28498850 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:28498850G>A ENST00000357806.7 - 5 530 c.307C>T c.(307-309)Cgt>Tgt p.R103C CLN3_ENST00000569430.1_Silent_p.L129L|CLN3_ENST00000355477.5_Silent_p.L129L|CLN3_ENST00000395653.4_Silent_p.L29L|CLN3_ENST00000354630.5_Silent_p.L129L|CLN3_ENST00000357076.5_Silent_p.L129L|CLN3_ENST00000359984.7_Silent_p.L129L|CLN3_ENST00000568224.1_Silent_p.L51L|CLN3_ENST00000360019.2_Silent_p.L129L|CLN3_ENST00000535392.1_Silent_p.L51L|CLN3_ENST00000357857.9_Silent_p.L75L|CLN3_ENST00000565316.1_Silent_p.L129L|CLN3_ENST00000333496.9_Silent_p.L105L|CLN3_ENST00000567963.1_Silent_p.L129L Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 0 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding p.L129L(1) breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 TCCCACTGACGAGAACCCGGG 0.587000 11 34 0 0 0.000978 0 0 CMYA5 202333 broad.mit.edu 37 5 79033165 79033165 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:79033165C>T ENST00000446378.2 + 2 8608 c.8577C>T c.(8575-8577)tcC>tcT p.S2859S NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2859 perinuclear region of cytoplasm p.S2859S(2) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATGACACATCCGATGTGCCTA 0.413000 89 29 0 0 0.003610 0 0 ASPRV1 151516 broad.mit.edu 37 2 70187890 70187890 + Missense_Mutation SNP G G A rs143860688 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:70187890G>A ENST00000320256.4 - 1 1507 c.931C>T c.(931-933)Cgc>Tgc p.R311C NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 311 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 GGCAGAAGGCGAAACTTCTTC 0.567000 31 96 0 0 0.003755 0 0 TRAV16 28667 broad.mit.edu 37 14 22459135 22459135 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22459135C>T ENST00000390444.1 + 0 287 AAACCATTTGCTCAAGAGGAA 0.433000 8 13 0 0 0.006214 0 0 SLX4IP 128710 broad.mit.edu 37 20 10604013 10604013 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:10604013G>A ENST00000334534.5 + 8 1393 c.1213G>A c.(1213-1215)Gaa>Aaa p.E405K NM_001009608.1 NP_001009608.1 SLX4 interacting protein p.E405*(1) AAAGAAATACGAAAGAGGCCA 0.448000 6 3 0 0 0.001984 0 0 COL25A1 84570 broad.mit.edu 37 4 109745366 109745366 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:109745366C>T ENST00000399132.1 - 35 2339 c.1809G>A c.(1807-1809)cgG>cgA p.R603R COL25A1_ENST00000399127.1_Silent_p.R606R|COL25A1_ENST00000399126.1_Silent_p.R603R NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 603 Collagen-like 7. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCTTCTCACCCCGTGGACCAG 0.413000 17 9 0 0 0.001216 0 0 DYM 54808 broad.mit.edu 37 18 46645263 46645263 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:46645263G>A ENST00000269445.6 - 15 2054 c.1597C>T c.(1597-1599)Cga>Tga p.R533* DYM_ENST00000442713.2_Nonsense_Mutation_p.R343*|RP11-15F12.3_ENST00000585251.1_RNA NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 533 Golgi apparatus p.R533*(1) NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 AACATCATTCGAATCACTTCT 0.403000 8 27 0 0 0.004482 0 0 MPP2 4355 broad.mit.edu 37 17 41956706 41956706 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:41956706G>A ENST00000269095.4 - 12 1723 c.1419C>T c.(1417-1419)ttC>ttT p.F473F MPP2_ENST00000536246.1_Silent_p.F462F|MPP2_ENST00000523501.1_Silent_p.F462F|MPP2_ENST00000520305.1_Silent_p.F334F|MPP2_ENST00000518766.1_Silent_p.F518F|MPP2_ENST00000461854.1_Silent_p.F497F|MPP2_ENST00000377184.3_Silent_p.F490F NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 497 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) GCAGGGTCTCGAAGTCTGGGG 0.597000 24 57 0 0 0.002780 0 0 UNC5B 219699 broad.mit.edu 37 10 73051390 73051390 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:73051390G>A ENST00000335350.6 + 10 1912 c.1496G>A c.(1495-1497)gGg>gAg p.G499E UNC5B_ENST00000373192.4_Missense_Mutation_p.G488E NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 499 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CTGGCAGATGGGGCTGACCTG 0.647000 19 38 0 0 0.001523 0 0 BICD1 636 broad.mit.edu 37 12 32481426 32481426 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:32481426C>T ENST00000548411.1 + 5 2218 c.2037C>T c.(2035-2037)tcC>tcT p.S679S BICD1_ENST00000281474.5_Silent_p.S679S NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 679 Interacts with RAB6A. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGCTAAAGTCCCTGCTGAGCA 0.507000 18 59 0 0 0.006122 0 0 THEMIS 387357 broad.mit.edu 37 6 128135035 128135035 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:128135035C>T ENST00000368250.1 - 5 1012 c.514G>A c.(514-516)Gaa>Aaa p.E172K THEMIS_ENST00000368248.2_Missense_Mutation_p.E251K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E251K|THEMIS_ENST00000537166.1_Missense_Mutation_p.E216K Q8N1K5 THMS1_HUMAN thymocyte selection associated 251 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCTTTGACTTCGACATCTAGA 0.348000 61 16 0 0 0.003610 0 0 SCN2A 6326 broad.mit.edu 37 2 166201289 166201289 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:166201289C>T ENST00000375437.2 + 16 3077 c.2787C>T c.(2785-2787)ttC>ttT p.F929F SCN2A_ENST00000283256.6_Silent_p.F929F|SCN2A_ENST00000375427.2_Silent_p.F929F|SCN2A_ENST00000357398.3_Silent_p.F929F NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 929 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ATGACTTTTTCCACTCCTTCC 0.507000 30 64 0 0 0.002096 0 0 GHR 2690 broad.mit.edu 37 5 42719252 42719252 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:42719252C>T ENST00000230882.4 + 10 1833 c.1643C>T c.(1642-1644)cCt>cTt p.P548L GHR_ENST00000537449.1_Missense_Mutation_p.P361L|GHR_ENST00000357703.3_Missense_Mutation_p.P526L NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 548 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CCTGTGGCTCCTCACATCAAG 0.493000 4 31 0 0 0.000602 0 0 GRIK2 2898 broad.mit.edu 37 6 102074293 102074293 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:102074293G>A ENST00000369138.1 + 3 812 c.322G>A c.(322-324)Ggg>Agg p.G108R GRIK2_ENST00000369134.4_Missense_Mutation_p.G59R|GRIK2_ENST00000318991.6_Missense_Mutation_p.G108R|GRIK2_ENST00000358361.3_Missense_Mutation_p.G108R|GRIK2_ENST00000421544.1_Missense_Mutation_p.G108R|GRIK2_ENST00000413795.1_Missense_Mutation_p.G108R|GRIK2_ENST00000369137.3_Missense_Mutation_p.G108R NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 108 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TGCCATCTTCGGGCCTTCACA 0.537000 114 40 0 0 0.003610 0 0 ITGA11 22801 broad.mit.edu 37 15 68695308 68695308 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:68695308G>A ENST00000423218.2 - 2 208 c.113C>T c.(112-114)aCc>aTc p.T38I ITGA11_ENST00000315757.7_Missense_Mutation_p.T38I Q9UKX5 ITA11_HUMAN integrin, alpha 11 38 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) AAAGAAGGCGGTCCTGGAGCC 0.612000 9 18 0 0 0.001368 0 0 SENP2 59343 broad.mit.edu 37 3 185316753 185316753 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:185316753C>T ENST00000296257.5 + 4 539 c.299C>T c.(298-300)tCg>tTg p.S100L SENP2_ENST00000427465.2_Intron|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.S90L NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 100 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) AAGGTATTTTCGAACTCTTCA 0.363000 193 167 0 0 0.003610 0 0 CMIP 80790 broad.mit.edu 37 16 81725423 81725423 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:81725423C>T ENST00000537098.3 + 11 1504 c.1432C>T c.(1432-1434)Caa>Taa p.Q478* CMIP_ENST00000539778.2_Nonsense_Mutation_p.Q384*|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Nonsense_Mutation_p.Q325* NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 444 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 CAGTTTGCTTCAACCCATTCC 0.542000 7 26 0 0 0.003080 0 0 CILP 8483 broad.mit.edu 37 15 65499260 65499260 + Missense_Mutation SNP C C T rs143925933 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:65499260C>T ENST00000261883.4 - 4 450 c.284G>A c.(283-285)cGg>cAg p.R95Q NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 95 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GTCAGTGGTCCGAGCCTCTAG 0.647000 4 25 0 0 0.000602 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478220 42478220 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:42478220G>A ENST00000434000.1 - 9 1273 c.991C>T c.(991-993)Ccc>Tcc p.P331S GPATCH8_ENST00000591680.1_Missense_Mutation_p.P409S Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 409 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) AGTAGAAAGGGAAAATTAGGT 0.433000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 97 0 0 0.001216 0 0 ECE1 1889 broad.mit.edu 37 1 21546524 21546524 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:21546524G>A ENST00000415912.2 - 19 2314 c.2189C>T c.(2188-2190)tCc>tTc p.S730F ECE1_ENST00000264205.6_Missense_Mutation_p.S743F|ECE1_ENST00000374893.6_Missense_Mutation_p.S746F|ECE1_ENST00000357071.4_Missense_Mutation_p.S734F|ECE1_ENST00000436918.2_Missense_Mutation_p.S714F NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 746 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GAACTCCTTGGAATTGGAGAG 0.612000 15 26 0 0 0.006122 0 0 GRID1 2894 broad.mit.edu 37 10 87628888 87628888 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:87628888C>T ENST00000327946.7 - 6 915 c.830G>A c.(829-831)aGg>aAg p.R277K NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 277 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CACGGTCATCCTTCCAAGGGC 0.522000 Multiple Myeloma(13;0.14) 26 81 0 0 0.002096 0 0 DOCK3 1795 broad.mit.edu 37 3 51297629 51297629 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:51297629C>T ENST00000266037.9 + 23 2250 c.2227C>T c.(2227-2229)Ctg>Ttg p.L743L NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 743 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GTCACGGATCCTGTACTCACG 0.468000 25 12 0 0 0.003954 0 0 HNRNPF 3185 broad.mit.edu 37 10 43883070 43883070 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:43883070G>A ENST00000443950.2 - 3 749 c.263C>T c.(262-264)tCc>tTc p.S88F HNRNPF_ENST00000337970.3_Missense_Mutation_p.S88F|HNRNPF_ENST00000544000.1_Missense_Mutation_p.S88F|HNRNPF_ENST00000356053.3_Missense_Mutation_p.S88F|HNRNPF_ENST00000357065.4_Missense_Mutation_p.S88F NM_001098208.1 NP_001091678.1 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 88 regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 GGTTCTGTGGGACTTGAACAC 0.512000 43 33 0 0 0.002852 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432573 73432573 + Silent SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:73432573T>C ENST00000263666.4 - 10 3258 c.3144A>G c.(3142-3144)acA>acG p.T1048T PDZRN3_ENST00000462146.2_Silent_p.T705T|PDZRN3_ENST00000535920.1_Silent_p.T770T|PDZRN3_ENST00000479530.1_Silent_p.T765T|PDZRN3_ENST00000466780.1_Silent_p.T705T NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 1048 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CCGGGGATTTTGTGCCGTGGG 0.408000 30 99 0 0 0.001512 0 0 SUSD4 55061 broad.mit.edu 37 1 223465992 223465992 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:223465992C>T ENST00000343846.3 - 2 783 c.148_splice c.e2-1 p.G50_splice SUSD4_ENST00000366878.4_Splice_Site_p.G50_splice|SUSD4_ENST00000344029.6_Splice_Site_p.G50_splice|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR Q5VX71 SUSD4_HUMAN sushi domain containing 4 50 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) GGTCATCGAACCCTACATCAA 0.512000 5 35 0 0 0.000602 0 0 GSTM5 2949 broad.mit.edu 37 1 110256073 110256073 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:110256073C>T ENST00000369813.1 + 2 927 c.22C>T c.(22-24)Caa>Taa p.Q8* GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Nonsense_Mutation_p.Q68* P46439 GSTM5_HUMAN glutathione S-transferase mu 5 0 GST N-terminal.|Glutathione binding (By similarity). xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) CCTGGTGGCCCAACTGAGCTT 0.567000 26 44 0 0 0.001512 0 0 CHTOP 26097 broad.mit.edu 37 1 153614878 153614878 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:153614878C>T ENST00000368686.1 + 2 267 c.259C>T c.(259-261)Cta>Tta p.L87L CHTOP_ENST00000368687.1_Silent_p.L101L|CHTOP_ENST00000403433.1_Silent_p.L126L|CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000368690.3_Silent_p.L126L|CHTOP_ENST00000368694.3_Silent_p.L126L Q9Y3Y2 CHTOP_HUMAN chromatin target of PRMT1 126 Arg/Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus protein binding|RNA binding endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6) 13 CACCAGAACCCTACTTAGGGG 0.602000 26 82 0 0 0.005443 0 0 KCNK5 8645 broad.mit.edu 37 6 39159434 39159434 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:39159434C>T ENST00000359534.3 - 5 1070 c.732G>A c.(730-732)tgG>tgA p.W244* NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 244 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 TGCTCACCTTCCAGTTGACAA 0.592000 32 106 0 0 0.003271 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463617 25463617 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:25463617C>T ENST00000424208.1 + 0 2900 SNHG14_ENST00000453082.2_RNA NR_003305.1 CTTGCTTTTCCTGGGCCAGTG 0.577000 9 10 0 0 0.004482 0 0 AQR 9716 broad.mit.edu 37 15 35178780 35178780 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:35178780G>A ENST00000156471.5 - 25 2989 c.2764C>T c.(2764-2766)Cca>Tca p.P922S NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 922 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GCATCTCCTGGAACCCCTAGA 0.363000 54 59 0 0 0.003610 0 0 TCEAL5 340543 broad.mit.edu 37 X 102529337 102529337 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:102529337C>T ENST00000372680.1 - 3 449 c.155G>A c.(154-156)gGa>gAa p.G52E NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 52 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 ctctcgctttccctcgcattc 0.522000 23 4 0 0 0.001882 0 0 TNR 7143 broad.mit.edu 37 1 175306693 175306693 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:175306693C>T ENST00000367674.1 - 19 4213 c.3505G>A c.(3505-3507)Gat>Aat p.D1169N TNR_ENST00000263525.2_Missense_Mutation_p.D1169N NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1169 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GTGGTCATATCACAGTACACT 0.512000 37 29 0 0 0.006999 0 0 PRB2 653247 broad.mit.edu 37 12 11546491 11546491 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:11546491C>T ENST00000389362.4 - 3 556 c.521G>A c.(520-522)cGa>cAa p.R174Q PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.R153L(1)|p.R174L(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGAGGAGATCGAGAACTTCG 0.607000 118 80 0 0 0.003610 0 0 AGAP11 119385 broad.mit.edu 37 10 88769359 88769359 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:88769359C>T ENST00000444431.1 + 0 3959 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CTGAGCTGTCCCTGGGCCAGC 0.592000 38 89 0 0 0.006999 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559563 140559563 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140559563G>A ENST00000239444.2 + 1 2193 c.1948G>A c.(1948-1950)Gag>Aag p.E650K NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 650 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACAATGGCGAGCCTCCGTG 0.706000 30 20 0 0 0.002222 0 0 PTPN7 5778 broad.mit.edu 37 1 202128574 202128574 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:202128574G>A ENST00000309017.3 - 2 1045 c.272C>T c.(271-273)tCa>tTa p.S91L PTPN7_ENST00000308986.5_5'UTR|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.S25L NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 0 cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 ACTCAGCCATGAGGTCTGCCT 0.632000 31 32 0 0 0.001512 0 0 CCDC108 255101 broad.mit.edu 37 2 219892725 219892725 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:219892725C>T ENST00000341552.5 - 13 1941 c.1858G>A c.(1858-1860)Gag>Aag p.E620K CCDC108_ENST00000409865.3_Missense_Mutation_p.E609K|CCDC108_ENST00000453220.1_Missense_Mutation_p.E620K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E620K|CCDC108_ENST00000410037.1_Missense_Mutation_p.E555K NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 620 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCATGTCCTCCAGATCCTGC 0.577000 24 34 0 0 0.006320 0 0 CP 1356 broad.mit.edu 37 3 148930247 148930247 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:148930247C>T ENST00000264613.6 - 2 647 c.385G>A c.(385-387)Gaa>Aaa p.E129K NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 129 F5/8 type A 1.|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CCCTCATGTTCCTTATAGTAA 0.368000 8 28 0 0 0.004482 0 0 DNAH7 56171 broad.mit.edu 37 2 196723387 196723387 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:196723387C>T ENST00000312428.6 - 43 7978 c.7878G>A c.(7876-7878)atG>atA p.M2626I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2626 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCATTATCATCATTTCATCAA 0.383000 15 42 0 0 0.004990 0 0 DOCK2 1794 broad.mit.edu 37 5 169081436 169081436 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:169081436C>T ENST00000256935.8 + 2 153 c.73C>T c.(73-75)Ccc>Tcc p.P25S NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 25 SH3. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGCGGAGCCCCCCAGCTCTC 0.557000 31 23 0 0 0.003755 0 0 NR5A2 2494 broad.mit.edu 37 1 200017507 200017507 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:200017507C>T ENST00000367362.3 + 5 917 c.671C>T c.(670-672)cCt>cTt p.P224L NR5A2_ENST00000544748.1_Missense_Mutation_p.P152L|NR5A2_ENST00000236914.3_Missense_Mutation_p.P178L NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 224 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) AAAGGCCTACCTCTGAACCAT 0.512000 101 57 0 0 0.003610 0 0 TSG101 7251 broad.mit.edu 37 11 18505616 18505616 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:18505616G>A ENST00000536719.1 - 8 778 c.644C>T c.(643-645)cCc>cTc p.P215L TSG101_ENST00000251968.3_Missense_Mutation_p.P215L|TSG101_ENST00000357193.3_Missense_Mutation_p.P110L Q99816 TS101_HUMAN tumor susceptibility 101 215 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 ATCCCTACTGGGACCTGCAGG 0.498000 65 12 0 0 0.003610 0 0 PLCB4 5332 broad.mit.edu 37 20 9404516 9404516 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:9404516G>A ENST00000378501.2 + 24 2420 c.2405G>A c.(2404-2406)cGa>cAa p.R802Q PLCB4_ENST00000414679.2_Missense_Mutation_p.R814Q|PLCB4_ENST00000334005.3_Missense_Mutation_p.R802Q|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.R802Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.R814Q|PLCB4_ENST00000278655.4_Missense_Mutation_p.R802Q NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 802 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 ATTTCCCTTCGAAATGAGGGA 0.408000 8 7 0 0 0.003080 0 0 ZNF608 57507 broad.mit.edu 37 5 123983241 123983241 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:123983241C>A ENST00000306315.5 - 4 3271 c.2836G>T c.(2836-2838)Gct>Tct p.A946S ZNF608_ENST00000504926.1_Missense_Mutation_p.A519S NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 946 Ser-rich. intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CCATCGTCAGCAGCATCAGAT 0.507000 47 12 6.17242e-35 1.00841e-34 0.003610 1 0 TTLL7 79739 broad.mit.edu 37 1 84408173 84408173 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:84408173C>T ENST00000260505.8 - 7 1073 c.696G>A c.(694-696)aaG>aaA p.K232K TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 232 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) GTGGAATGTACTTCTCTGTAC 0.358000 12 12 0 0 0.002450 0 0 GSDMB 55876 broad.mit.edu 37 17 38073467 38073467 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:38073467G>T ENST00000394175.2 - 1 326 c.103C>A c.(103-105)Cgc>Agc p.R35S GSDMB_ENST00000394179.1_Missense_Mutation_p.R35S|GSDMB_ENST00000418519.1_Missense_Mutation_p.R35S|GSDMB_ENST00000520542.1_Missense_Mutation_p.R35S|GSDMB_ENST00000360317.3_Missense_Mutation_p.R35S|GSDMB_ENST00000309481.7_Missense_Mutation_p.R35S NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 35 cytoplasm breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 TGGAAGCAGCGGAATCTATCA 0.483000 6 190 0.00307968 0.00492749 0.003080 1 0 AGER 177 broad.mit.edu 37 6 32150708 32150708 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32150708C>T ENST00000375076.4 - 6 702 c.601G>A c.(601-603)Gat>Aat p.D201N AGER_ENST00000438221.2_Missense_Mutation_p.D217N|AGER_ENST00000375067.3_Missense_Mutation_p.D187N|AGER_ENST00000375070.3_Missense_Mutation_p.D232N|AGER_ENST00000375069.3_Missense_Mutation_p.D100N|AGER_ENST00000375055.2_Missense_Mutation_p.D201N|AGER_ENST00000375065.5_Intron|RNF5_ENST00000427134.2_Intron NM_001136.4|NM_001206929.1|NM_001206932.1 NP_001127.1|NP_001193858.1|NP_001193861.1 Q15109 RAGE_HUMAN advanced glycosylation end product-specific receptor 201 Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1)|endometrium(1)|lung(5)|pancreas(2) 9 GGACGGGGATCTCCTCCCCGG 0.622000 310 409 0 0 0.003610 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751162 19751162 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:19751162C>T ENST00000400113.3 - 4 1065 c.961G>A c.(961-963)Ggg>Agg p.G321R NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 321 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.G321R(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) ACCACATCCCCCCTGTACAAC 0.552000 37 34 0 0 0.005524 0 0 GPC3 2719 broad.mit.edu 37 X 132887940 132887940 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:132887940C>T ENST00000370818.3 - 3 1046 c.601G>A c.(601-603)Gca>Aca p.A201T GPC3_ENST00000543339.1_Missense_Mutation_p.A147T|GPC3_ENST00000394299.2_Missense_Mutation_p.A201T NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 201 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) TCACGTCTTGCTCCTCGGAGG 0.473000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 118 23 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179650595 179650595 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179650595C>T ENST00000589042.1 - 14 2574 c.2350G>A c.(2350-2352)Gga>Aga p.G784R TTN_ENST00000460472.2_Missense_Mutation_p.G738R|TTN_ENST00000342175.6_Missense_Mutation_p.G738R|TTN_ENST00000360870.5_Missense_Mutation_p.G784R|TTN_ENST00000591111.1_Missense_Mutation_p.G784R|TTN_ENST00000359218.5_Missense_Mutation_p.G738R|TTN_ENST00000342992.6_Missense_Mutation_p.G784R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 784 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G784R(3)|p.G738R(3) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGTGCATTCCCTTTTGATCA 0.463000 22 25 0 0 0.002299 0 0 RXFP2 122042 broad.mit.edu 37 13 32376299 32376299 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:32376299G>A ENST00000298386.2 + 18 2093 c.2022G>A c.(2020-2022)tgG>tgA p.W674* RXFP2_ENST00000380314.1_Nonsense_Mutation_p.W650* NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 674 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TGACTTCCTGGATAGTGATTT 0.343000 22 33 0 0 0.005443 0 0 OR2G6 391211 broad.mit.edu 37 1 248685694 248685694 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248685694C>T ENST00000343414.4 + 1 779 c.747C>T c.(745-747)atC>atT p.I249I NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGTGGTCATCATTTTCTATG 0.453000 20 86 0 0 0.001216 0 0 KRT6A 3853 broad.mit.edu 37 12 52886819 52886819 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:52886819C>T ENST00000330722.6 - 1 222 c.154G>A c.(154-156)Gga>Aga p.G52R NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 52 Head. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) CCAGCTCCTCCACATGCACCA 0.662000 15 74 0 0 0.002299 0 0 SLC9A9 285195 broad.mit.edu 37 3 143297500 143297500 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:143297500G>A ENST00000316549.6 - 7 1029 c.821C>T c.(820-822)tCt>tTt p.S274F NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 274 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 ATTCCCCACAGACTGGAAGAA 0.458000 16 41 0 0 0.003163 0 0 MYO3A 53904 broad.mit.edu 37 10 26455032 26455032 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:26455032C>T ENST00000265944.5 + 27 3202 c.3036C>T c.(3034-3036)ccC>ccT p.P1012P MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1012 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GCGAGGAGCCCCGCATGAGCC 0.458000 46 113 0 0 0.003610 0 0 LCP2 3937 broad.mit.edu 37 5 169677741 169677741 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:169677741C>T ENST00000046794.5 - 20 2087 c.1472G>A c.(1471-1473)gGg>gAg p.G491E LCP2_ENST00000521416.1_Missense_Mutation_p.G286E|C5orf58_ENST00000517575.1_Intron NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 491 SH2. immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) TACCTCTTTCCCTCGGAGTCC 0.413000 19 72 0 0 0.001882 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033165 20033165 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:20033165C>T ENST00000377340.2 - 2 336 c.305G>A c.(304-306)gGa>gAa p.G102E CRNKL1_ENST00000377327.4_Missense_Mutation_p.G90E|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 102 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding p.G102E(1) breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 GGCACCGTTTCCATGGTGACC 0.612000 11 50 0 0 0.001368 0 0 AKR1E2 83592 broad.mit.edu 37 10 4881973 4881973 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:4881973C>T ENST00000298375.7 + 6 706 c.635C>T c.(634-636)tCc>tTc p.S212F AKR1E2_ENST00000334019.4_Intron|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000532248.1_Intron NM_001040177.1 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 212 cytoplasm 1,5-anhydro-D-fructose reductase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 TTTTGCCAATCCAGAGATGTG 0.448000 26 15 0 0 0.002096 0 0 CD2 914 broad.mit.edu 37 1 117311214 117311214 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:117311214C>T ENST00000369478.3 + 5 973 c.865C>T c.(865-867)Cgt>Tgt p.R289C NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 289 Pro-rich. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) ACCTGGTCATCGTTCCCAGGC 0.587000 14 21 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179592968 179592968 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179592968C>T ENST00000589042.1 - 67 19807 c.19583G>A c.(19582-19584)aGa>aAa p.R6528K TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R6211K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5284K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6211 Ig-like 46. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCACACAAGTCTGTATTTTGC 0.393000 4 23 0 0 0.000602 0 0 NOTUM 147111 broad.mit.edu 37 17 79913410 79913410 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:79913410G>A ENST00000409678.3 - 9 1382 c.999C>T c.(997-999)ttC>ttT p.F333F NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 333 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) ACTGCACCACGAACACAGGGC 0.701000 13 19 0 0 0.004990 0 0 OR13D1 286365 broad.mit.edu 37 9 107456939 107456939 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:107456939C>T ENST00000318763.5 + 1 280 c.237C>T c.(235-237)atC>atT p.I79I NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TCCTCATTATCATCACCATCT 0.453000 59 80 0 0 0.003610 0 0 ZNF70 7621 broad.mit.edu 37 22 24086047 24086047 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:24086047G>A ENST00000341976.3 - 2 1741 c.1281C>T c.(1279-1281)tcC>tcT p.S427S NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 427 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TCCCCCGGAAGGACTTGCCGC 0.547000 152 16 0 0 0.003610 0 0 CACNA1I 8911 broad.mit.edu 37 22 40057191 40057191 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:40057191C>T ENST00000336649.4 + 19 2795 c.2795C>T c.(2794-2796)cCt>cTt p.P932L CACNA1I_ENST00000404898.1_Missense_Mutation_p.P891L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.P926L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.P926L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.P891L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.P891L Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 926 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CACCTAGGTCCTGCTGGGGCT 0.652000 27 13 0 0 0.006320 0 0 OR2H1 26716 broad.mit.edu 37 6 29430158 29430158 + Silent SNP C C T rs144363872 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:29430158C>T ENST00000377136.1 + 4 1077 c.612C>T c.(610-612)ttC>ttT p.F204F OR2H1_ENST00000442615.1_Silent_p.F204F|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Silent_p.F204F|OR2H1_ENST00000396792.2_Silent_p.F204F|OR2H1_ENST00000377133.1_Silent_p.F204F Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 GTGTCATCTTCGTGGTTGTGC 0.502000 169 49 0 0 0.003610 0 0 ATF7IP 55729 broad.mit.edu 37 12 14631255 14631255 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:14631255C>T ENST00000544627.1 + 12 3290 c.2970C>T c.(2968-2970)ccC>ccT p.P990P ATF7IP_ENST00000536444.1_Silent_p.P981P|ATF7IP_ENST00000543189.1_Silent_p.P981P|ATF7IP_ENST00000261168.4_Silent_p.P982P|ATF7IP_ENST00000540793.1_Silent_p.P982P Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 982 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TAACAGACCCCAAAAAACTAA 0.393000 7 50 0 0 0.001984 0 0 SNHG14 104472715 broad.mit.edu 37 15 25472064 25472064 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:25472064G>A ENST00000453082.2 + 0 1106 NR_003343.1 TGTCTCCCCAGATGGTGACCC 0.607000 4 3 0 0 0.000248 0 0 PNISR 25957 broad.mit.edu 37 6 99856123 99856123 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:99856123G>A ENST00000369239.5 - 7 902 c.698C>T c.(697-699)cCc>cTc p.P233L PNISR_ENST00000438806.1_Missense_Mutation_p.P233L NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 233 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 AATCCAAGCGGGAAGAGTCCT 0.358000 32 9 0 0 0.004289 0 0 KCNT2 343450 broad.mit.edu 37 1 196227610 196227610 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:196227610G>A ENST00000367433.5 - 25 2954 c.2853C>T c.(2851-2853)atC>atT p.I951I KCNT2_ENST00000367431.4_Silent_p.I909I|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Silent_p.I975I Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 975 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CTTCTACACTGATAGATATTT 0.363000 10 57 0 0 0.000978 0 0 EGFR 1956 broad.mit.edu 37 7 55269037 55269037 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:55269037C>T ENST00000275493.2 + 25 3280 c.3103C>T c.(3103-3105)Ctg>Ttg p.L1035L EGFR_ENST00000454757.2_Silent_p.L982L|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.L990L NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 1035 Ser-rich. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GACTCCCCTCCTGAGCTCTCT 0.488000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 33 83 0 0 0.002445 0 0 COL10A1 1300 broad.mit.edu 37 6 116442158 116442158 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:116442158C>T ENST00000327673.4 - 2 1528 c.1121G>A c.(1120-1122)gGg>gAg p.G374E COL10A1_ENST00000243222.4_Missense_Mutation_p.G374E|NT5DC1_ENST00000319550.4_Intron Q03692 COAA1_HUMAN collagen, type X, alpha 1 374 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) ACCCTTAGCCCCAGGGTATCC 0.592000 5 21 0 0 0.001168 0 0 PUS7L 83448 broad.mit.edu 37 12 44148638 44148638 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:44148638C>T ENST00000416848.2 - 2 899 c.411G>A c.(409-411)ctG>ctA p.L137L PUS7L_ENST00000553166.1_Silent_p.L137L|PUS7L_ENST00000551923.1_Silent_p.L137L|PUS7L_ENST00000344862.5_Silent_p.L137L|PUS7L_ENST00000431332.3_Intron NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 137 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) CAAAATTATTCAGTAACTCAT 0.363000 26 122 0 0 0.005443 0 0 KCNJ8 3764 broad.mit.edu 37 12 21919284 21919284 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:21919284C>T ENST00000240662.2 - 3 993 c.648G>A c.(646-648)agG>agA p.R216R RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 216 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) TCATGCTTTTCCTCAGGTCAC 0.507000 18 100 0 0 0.001216 0 0 FAM151A 338094 broad.mit.edu 37 1 55077409 55077409 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:55077409C>T ENST00000302250.2 - 6 970 c.810G>A c.(808-810)ctG>ctA p.L270L ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Silent_p.L270L NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 270 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 GCCACAGCGTCAGGCTGTACC 0.602000 19 43 0 0 0.002299 0 0 CNPPD1 27013 broad.mit.edu 37 2 220037846 220037846 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:220037846G>A ENST00000409789.1 - 9 1122 c.695C>T c.(694-696)tCt>tTt p.S232F CNPPD1_ENST00000360507.5_Missense_Mutation_p.S232F Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 232 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 TAACAGGCAAGACAGCTGCAG 0.502000 5 13 0 0 0.000602 0 0 HDAC5 10014 broad.mit.edu 37 17 42155754 42155754 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:42155754G>A ENST00000225983.6 - 27 3685 c.3362C>T c.(3361-3363)cCt>cTt p.P1121L HDAC5_ENST00000586802.1_Missense_Mutation_p.P1120L|HDAC5_ENST00000393622.2_Missense_Mutation_p.P1120L|HDAC5_ENST00000336057.5_Missense_Mutation_p.P1035L Q9UQL6 HDAC5_HUMAN histone deacetylase 5 1120 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) TCACAGGGCAGGCTCCTGCTC 0.567000 15 18 0 0 0.004990 0 0 OR14A16 284532 broad.mit.edu 37 1 247978955 247978955 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:247978955G>A ENST00000357627.1 - 1 76 c.77C>T c.(76-78)tCg>tTg p.S26L NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S26L(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 GAAGAGAATCGAATGCAAAAT 0.393000 10 34 0 0 0.000673 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58258017 58258017 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:58258017C>T ENST00000249750.4 - 8 1574 c.807G>A c.(805-807)aaG>aaA p.K269K ALDH1A2_ENST00000559517.1_Silent_p.K173K|ALDH1A2_ENST00000537372.1_Silent_p.K248K|ALDH1A2_ENST00000558231.1_Silent_p.K240K|ALDH1A2_ENST00000347587.3_Silent_p.K231K NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 269 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CTTGGATAAGCTTTCCAACCT 0.448000 20 38 0 0 0.001216 0 0 PLXDC1 57125 broad.mit.edu 37 17 37265577 37265577 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:37265577C>T ENST00000315392.4 - 3 534 c.323G>A c.(322-324)tGg>tAg p.W108* PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Nonsense_Mutation_p.W35*|PLXDC1_ENST00000394316.2_Nonsense_Mutation_p.W108*|PLXDC1_ENST00000444911.2_Nonsense_Mutation_p.W68* NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 108 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 CACATCTACCCACAGTTCCCG 0.607000 8 25 0 0 0.000673 0 0 KANSL2 54934 broad.mit.edu 37 12 49065687 49065687 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:49065687G>A ENST00000550347.1 - 4 1196 c.1153C>T c.(1153-1155)Cgt>Tgt p.R385C KANSL2_ENST00000420613.2_Missense_Mutation_p.R202C|KANSL2_ENST00000553086.1_Missense_Mutation_p.R202C|KANSL2_ENST00000357861.3_Missense_Mutation_p.R7C Q9H9L4 CL041_HUMAN KAT8 regulatory NSL complex subunit 2 202 GACTGCAAACGAATTAGCTTT 0.403000 188 202 0 0 0.003610 0 0 SLC4A3 6508 broad.mit.edu 37 2 220504210 220504210 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:220504210C>T ENST00000358055.3 + 20 3542 c.3030C>T c.(3028-3030)atC>atT p.I1010I SLC4A3_ENST00000373760.2_Silent_p.I1010I|SLC4A3_ENST00000317151.3_Silent_p.I1010I|SLC4A3_ENST00000373762.3_Silent_p.I1037I|SLC4A3_ENST00000273063.6_Silent_p.I1037I P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 1010 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAGGCTTATCGTCAGCCAGA 0.662000 19 27 0 0 0.002780 0 0 COL6A6 131873 broad.mit.edu 37 3 130345328 130345328 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:130345328G>A ENST00000358511.6 + 24 4909 c.e24-1 COL6A6_ENST00000453409.2_Splice_Site NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CTGTTTAACAGGGAGAACCTG 0.438000 28 29 0 0 0.002445 0 0 MIR409 574413 broad.mit.edu 37 14 101531703 101531703 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:101531703C>T ENST00000362237.1 + 0 67 NR_029975.1 CGGTGAACCCCTTTTCGGTAT 0.582000 10 39 0 0 0.000673 0 0 CRTC2 200186 broad.mit.edu 37 1 153924553 153924553 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:153924553G>A ENST00000368633.1 - 10 1065 c.938C>T c.(937-939)aCc>aTc p.T313I CRTC2_ENST00000368630.3_Intron NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 313 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GTGAGTCATGGTGTGGGTCAA 0.622000 20 88 0 0 0.001523 0 0 ARMC8 25852 broad.mit.edu 37 3 137991881 137991881 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:137991881C>T ENST00000469044.1 + 17 1823 c.1552C>T c.(1552-1554)Cgg>Tgg p.R518W NME9_ENST00000383180.2_Intron|ARMC8_ENST00000538260.1_Missense_Mutation_p.R487W|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000491704.1_Missense_Mutation_p.R476W|ARMC8_ENST00000481646.1_Missense_Mutation_p.R504W|ARMC8_ENST00000485396.1_Missense_Mutation_p.R445W|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000393058.3_Missense_Mutation_p.R508W|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.R451W NM_001267041.1|NM_001267042.1 NP_001253970.1|NP_001253971.1 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 518 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 ACAGCTATTCCGGTTATTATC 0.373000 183 409 0 0 0.003610 0 0 ANKRD11 29123 broad.mit.edu 37 16 89346472 89346472 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:89346472G>A ENST00000301030.4 - 9 6938 c.6478C>T c.(6478-6480)Ctt>Ttt p.L2160F ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2160F NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2160 Pro-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GGAGGAGCAAGACTTTCTTCC 0.637000 8 27 0 0 0.004482 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907965 12907965 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:12907965C>T ENST00000317869.6 - 2 403 c.178G>A c.(178-180)Gag>Aag p.E60K NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 GCATTTTTCTCCTTATCATAT 0.478000 12 76 0 0 0.001855 0 0 GSDMA 284110 broad.mit.edu 37 17 38130526 38130526 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:38130526G>A ENST00000301659.4 + 9 870 c.751_splice c.e9-1 p.G251_splice NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 251 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 GTCCCCATAGGGGACGTACAC 0.557000 4 15 0 0 0.003080 0 0 PARN 5073 broad.mit.edu 37 16 14698029 14698029 + Missense_Mutation SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:14698029C>G ENST00000437198.2 - 11 898 c.757G>C c.(757-759)Gag>Cag p.E253Q PARN_ENST00000539279.1_Missense_Mutation_p.E78Q|PARN_ENST00000420015.2_Missense_Mutation_p.E207Q|PARN_ENST00000341484.7_Missense_Mutation_p.E192Q NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease 253 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 TTCTGCTGCTCTCTTCTTTTG 0.338000 3 18 0 0 0.000602 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806560 97806560 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:97806560G>A ENST00000358642.2 + 1 544 c.544G>A c.(544-546)Gaa>Aaa p.E182K NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 TTTCTACTGTGAAATTTTACA 0.308000 17 60 0 0 0.006122 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62652648 62652648 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:62652648G>A ENST00000337910.5 - 5 739 c.402C>T c.(400-402)ccC>ccT p.P134P RHOBTB1_ENST00000357917.4_Silent_p.P134P NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 134 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) CAAGGATAACGGGTGTTCGAG 0.493000 12 62 0 0 0.002450 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766907 77766907 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:77766907G>A ENST00000521891.2 + 10 8198 c.7750G>A c.(7750-7752)Gat>Aat p.D2584N ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2539N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2558N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2539N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2539 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAAACTAGACGATAAAGAAGA 0.507000 HNSCC(33;0.089) 14 14 0 0 0.003163 0 0 ANKS6 203286 broad.mit.edu 37 9 101498825 101498825 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:101498825G>A ENST00000353234.4 - 15 2639 c.2592C>T c.(2590-2592)gcC>gcT p.A864A ANKS6_ENST00000375018.1_Silent_p.A865A|ANKS6_ENST00000375019.2_Silent_p.A563A|ANKS6_ENST00000540940.1_Silent_p.A669A Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 864 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) TGTTGCCAGGGGCCCTGGTGT 0.577000 3 9 0 0 0.000248 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54604011 54604011 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:54604011C>T ENST00000474759.1 + 8 816 c.768C>T c.(766-768)gaC>gaT p.D256D CACNA2D3_ENST00000288197.5_Silent_p.D256D|CACNA2D3_ENST00000415676.2_Silent_p.D256D|CACNA2D3_ENST00000490478.1_Silent_p.D162D NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 256 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.D256D(1)|p.D256E(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CTCCGAAAGACGTGGTCATTT 0.428000 19 52 0 0 0.001216 0 0 LPA 4018 broad.mit.edu 37 6 160978556 160978556 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:160978556G>A ENST00000447678.1 - 30 4799 c.4679C>T c.(4678-4680)cCc>cTc p.P1560L LPA_ENST00000316300.5_Missense_Mutation_p.P1560L NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4068 Kringle 14. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GTAACACCAGGGTTGTTTCCC 0.493000 38 9 0 0 0.005524 0 0 CDH11 1009 broad.mit.edu 37 16 64984673 64984673 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:64984673G>A ENST00000394156.3 - 12 2344 c.1891C>T c.(1891-1893)Ctg>Ttg p.L631L CDH11_ENST00000268603.4_Silent_p.L631L|CDH11_ENST00000566827.1_Silent_p.L505L P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 631 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCCTTACCCAGGAGAATGACG 0.612000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 15 6 0 0 0.002450 0 0 FCRL4 83417 broad.mit.edu 37 1 157556094 157556094 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:157556094C>T ENST00000271532.1 - 6 1134 c.999G>A c.(997-999)ggG>ggA p.G333G FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 333 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GAGTTTTCCTCCCCAGACTCT 0.582000 51 36 0 0 0.003610 0 0 LAMA5 3911 broad.mit.edu 37 20 60903380 60903380 + Silent SNP G G A rs143580785 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:60903380G>A ENST00000252999.3 - 35 4635 c.4569C>T c.(4567-4569)gtC>gtT p.V1523V NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1523 Laminin EGF-like 13. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTCACAGCCGACCAGGGGGT 0.662000 5 30 0 0 0.000602 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113140352 113140352 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:113140352G>A ENST00000261965.3 - 22 2865 c.2679C>T c.(2677-2679)ctC>ctT p.L893L NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 893 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) GAGACACACGGAGCCTGGGCT 0.587000 8 1 0 0 0.000673 0 0 BMP10 27302 broad.mit.edu 37 2 69093648 69093648 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:69093648G>A ENST00000295379.1 - 2 548 c.390C>T c.(388-390)ttC>ttT p.F130F NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 130 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 TGGACACATTGAAGAGGAGGG 0.453000 26 23 0 0 0.007291 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147239 26147239 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:26147239C>T ENST00000331351.5 + 2 1433 c.1041C>T c.(1039-1041)ttC>ttT p.F347F HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 347 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) TCCAGTATTTCCCCCTCTCCC 0.537000 36 84 0 0 0.004878 0 0 VANGL1 81839 broad.mit.edu 37 1 116206850 116206850 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:116206850C>T ENST00000355485.2 + 4 1044 c.773C>T c.(772-774)aCc>aTc p.T258I VANGL1_ENST00000310260.3_Missense_Mutation_p.T258I|VANGL1_ENST00000369509.1_Missense_Mutation_p.T258I|VANGL1_ENST00000369510.3_Missense_Mutation_p.T256I NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 258 multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GTCCGCTCCACCGATGGCGAG 0.597000 5 11 0 0 0.000602 0 0 OR14J1 442191 broad.mit.edu 37 6 29274755 29274755 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:29274755C>T ENST00000377160.2 + 1 353 c.289C>T c.(289-291)Ctt>Ttt p.L97F NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TCAGTGCATTCTTCAGGTTTT 0.458000 175 68 0 0 0.003610 0 0 IGDCC3 9543 broad.mit.edu 37 15 65621884 65621884 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:65621884G>A ENST00000327987.4 - 13 2300 c.2049C>T c.(2047-2049)ccC>ccT p.P683P NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 683 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TCTGGCTCCGGGGACCCTGTG 0.597000 18 81 0 0 0.007413 0 0 RERGL 79785 broad.mit.edu 37 12 18238594 18238594 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:18238594C>T ENST00000229002.2 - 4 352 c.146G>A c.(145-147)aGg>aAg p.R49K RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Missense_Mutation_p.R48K|RERGL_ENST00000538724.1_Missense_Mutation_p.R48K NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 49 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 TAGTTGTTTCCTTTCCAAACA 0.284000 25 8 0 0 0.002096 0 0 OAS3 4940 broad.mit.edu 37 12 113405759 113405759 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:113405759G>A ENST00000228928.7 + 14 3063 c.2884G>A c.(2884-2886)Ggg>Agg p.G962R RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 962 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GATCTCCAAGGGGAGAGGCTC 0.532000 20 8 0 0 0.001216 0 0 DCLK3 85443 broad.mit.edu 37 3 36759552 36759552 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:36759552G>A ENST00000416516.2 - 4 2192 c.1702C>T c.(1702-1704)Cag>Tag p.Q568* NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 568 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TGGCCCAGCTGGATGATGTTA 0.552000 62 65 0 0 0.003610 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84609301 84609301 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:84609301G>A ENST00000344803.2 + 4 3963 c.3916G>A c.(3916-3918)Gga>Aga p.G1306R NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 AGAGCTTGATGGAGGGGATGC 0.532000 9 10 0 0 0.000673 0 0 BAX 581 broad.mit.edu 37 19 49464237 49464237 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:49464237C>T ENST00000293288.8 + 5 540 c.540C>T c.(538-540)tcC>tcT p.S180S BAX_ENST00000391871.3_Intron|BAX_ENST00000539787.1_Intron|BAX_ENST00000354470.3_Intron|BAX_ENST00000345358.7_Intron|BAX_ENST00000415969.2_Intron NM_004324.3 NP_004315.1 Q07812 BAX_HUMAN BCL2-associated X protein 0 activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4) 17 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) ccccaccgtccctgcccccCG 0.647000 12 22 0 0 0.001368 0 0 DLG5 9231 broad.mit.edu 37 10 79593792 79593792 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:79593792A>T ENST00000372391.2 - 9 1633 c.1628T>A c.(1627-1629)cTg>cAg p.L543Q DLG5_ENST00000372388.2_Missense_Mutation_p.L543Q NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 543 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GTTGTCACACAGTGTCCTGGT 0.612000 13 15 0 0 0.004990 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147162 26147162 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:26147162G>A ENST00000331351.5 + 2 1356 c.964G>A c.(964-966)Ggg>Agg p.G322R HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 322 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) CCGGACCCTCGGGCTGATCGA 0.542000 96 74 0 0 0.003610 0 0 MATK 4145 broad.mit.edu 37 19 3778381 3778381 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:3778381G>A ENST00000310132.6 - 14 1722 c.1324C>T c.(1324-1326)Cgc>Tgc p.R442C MATK_ENST00000395040.2_Missense_Mutation_p.R401C|MATK_ENST00000395045.2_Missense_Mutation_p.R443C|MATK_ENST00000585778.1_Missense_Mutation_p.R441C NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 442 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GGTTCCATGCGGTACCCCTTC 0.697000 13 43 0 0 0.004990 0 0 ETS1 2113 broad.mit.edu 37 11 128426213 128426213 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:128426213G>A ENST00000392668.3 - 3 255 c.187C>T c.(187-189)Cct>Tct p.P63S ETS1_ENST00000525404.1_5'UTR NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 161 PNT. cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) AGACCAGTAGGAACTTCCTGA 0.448000 25 11 0 0 0.007291 0 0 BRINP3 339479 broad.mit.edu 37 1 190129848 190129848 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:190129848G>A ENST00000367462.3 - 7 1365 c.1134C>T c.(1132-1134)agC>agT p.S378S FAM5C_ENST00000534846.1_Silent_p.S276S|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 378 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TCTTGCTAAGGCTAAAAAGCT 0.398000 38 91 0 0 0.005524 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799844 159799844 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:159799844C>T ENST00000289707.5 + 2 378 c.229C>T c.(229-231)Ctg>Ttg p.L77L SLAMF8_ENST00000368104.4_Intron|SLAMF8_ENST00000471286.1_3'UTR NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 77 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) TTCCCGCTTCCTGGGCCGAGC 0.612000 31 130 0 0 0.001786 0 0 LILRB4 11006 broad.mit.edu 37 19 55175661 55175661 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55175661C>T ENST00000391736.1 + 6 695 c.380C>T c.(379-381)tCa>tTa p.S127L LILRB4_ENST00000391733.3_Missense_Mutation_p.S127L|LILRB4_ENST00000391734.3_Missense_Mutation_p.S127L|LILRB4_ENST00000270452.2_Missense_Mutation_p.S127L|LILRB4_ENST00000430952.2_Missense_Mutation_p.S127L NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 127 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) CCCACCCTTTCAGCCCTGCCG 0.582000 20 84 0 0 0.001882 0 0 PALLD 23022 broad.mit.edu 37 4 169812165 169812165 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:169812165G>A ENST00000335742.7 + 12 2940 c.1583G>A c.(1582-1584)cGa>cAa p.R528Q PALLD_ENST00000261509.6_Missense_Mutation_p.R686Q|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.R199Q|PALLD_ENST00000505667.1_Missense_Mutation_p.R686Q|PALLD_ENST00000512127.1_Missense_Mutation_p.R304Q Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 910 Ig-like C2-type 2. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GACCTGGAACGAAAACTTCGC 0.473000 Pancreatic Cancer, Familial Clustering of 28 25 0 0 0.006320 0 0 ILDR2 387597 broad.mit.edu 37 1 166896415 166896415 + Missense_Mutation SNP G G A rs142876093 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:166896415G>A ENST00000271417.3 - 7 938 c.883C>T c.(883-885)Cgc>Tgc p.R295C ILDR2_ENST00000469934.2_Missense_Mutation_p.R295C|ILDR2_ENST00000528703.1_Missense_Mutation_p.R236C|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.R276C|ILDR2_ENST00000525740.1_Missense_Mutation_p.R168C|ILDR2_ENST00000526687.1_Missense_Mutation_p.R187C NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 295 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 TAACCTTTGCGAACTGTTGAG 0.438000 25 77 0 0 0.006320 0 0 TTN 7273 broad.mit.edu 37 2 179604819 179604819 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179604819C>T ENST00000589042.1 - 48 13365 c.13141G>A c.(13141-13143)Gaa>Aaa p.E4381K TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4018K|TTN_ENST00000342175.6_Missense_Mutation_p.E4210K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4064K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4143K|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4064 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E4143K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCAAGCTTTCCTTAGAAAGA 0.498000 19 31 0 0 0.001216 0 0 IGSF6 10261 broad.mit.edu 37 16 21658603 21658603 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:21658603C>T ENST00000268389.4 - 2 339 c.278G>A c.(277-279)aGg>aAg p.R93K METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron NM_005849.3 NP_005840.2 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 93 Ig-like C2-type. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(48;0.066) GAGGGCCTCCCTCACTGTGAA 0.502000 15 53 0 0 0.004007 0 0 SMR3A 26952 broad.mit.edu 37 4 71232489 71232489 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:71232489G>A ENST00000226460.4 + 3 279 c.183G>A c.(181-183)ggG>ggA p.G61G NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 61 Pro-rich. extracellular region p.G61E(1) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) ATGGTCCAGGGAGATTTCCAC 0.547000 34 58 0 0 0.002445 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8665993 8665993 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:8665993C>T ENST00000270328.4 - 5 895 c.629G>A c.(628-630)cGg>cAg p.R210Q ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R210Q Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 210 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CTTCAAGGTCCGCAGCCACCA 0.637000 9 25 0 0 0.006214 0 0 PAM 5066 broad.mit.edu 37 5 102282552 102282552 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:102282552G>A ENST00000438793.3 + 7 1008 c.538G>A c.(538-540)Gac>Aac p.D180N PAM_ENST00000455264.2_Missense_Mutation_p.D180N|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Missense_Mutation_p.D180N|PAM_ENST00000274392.9_Missense_Mutation_p.D83N|PAM_ENST00000346918.2_Missense_Mutation_p.D180N|PAM_ENST00000348126.2_Missense_Mutation_p.D180N NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 180 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TAATAACAAGGACTGTTCTGG 0.358000 6 22 0 0 0.001984 0 0 CABP4 57010 broad.mit.edu 37 11 67223165 67223165 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:67223165G>A ENST00000325656.5 + 1 348 c.271G>A c.(271-273)Gcc>Acc p.A91T CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR NM_145200.3 NP_660201.1 P57796 CABP4_HUMAN calcium binding protein 4 91 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CCCTGGGCCGGCCTCTTCTCG 0.682000 7 4 0 0 0.003080 0 0 OR2T1 26696 broad.mit.edu 37 1 248569430 248569430 + Silent SNP C C T rs145103744 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248569430C>T ENST00000366474.1 + 1 135 c.135C>T c.(133-135)atC>atT p.I45I NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I45I(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TACCTTATATCGGCACAACTG 0.378000 27 123 0 0 0.004656 0 0 HOXA4 3201 broad.mit.edu 37 7 27168851 27168851 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:27168851G>A ENST00000360046.5 - 2 1021 c.956C>T c.(955-957)tCc>tTc p.S319F HOXA4_ENST00000428284.2_Missense_Mutation_p.S319F|HOXA3_ENST00000467897.2_5'UTR|HOXA-AS2_ENST00000521159.1_RNA NM_002141.4 NP_002132.3 Q00056 HXA4_HUMAN homeobox A4 319 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6) 12 AGATTATAtggaggagggaac 0.577000 23 44 0 0 0.002299 0 0 PXDNL 137902 broad.mit.edu 37 8 52370162 52370162 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:52370162C>T ENST00000356297.4 - 9 978 c.878G>A c.(877-879)cGa>cAa p.R293Q PXDNL_ENST00000543296.1_Missense_Mutation_p.R293Q NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 293 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCTGGTGTTTCGGATCATGAG 0.428000 69 60 0 0 0.003610 0 0 GALNT8 26290 broad.mit.edu 37 12 4870139 4870139 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:4870139G>A ENST00000252318.2 + 7 1526 c.1189G>A c.(1189-1191)Ggg>Agg p.G397R NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 397 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GCAGTGTGGAGGGAAGGTCGA 0.502000 31 17 0 0 0.003755 0 0 REEP6 92840 broad.mit.edu 37 19 1496322 1496322 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:1496322G>A ENST00000233596.3 + 4 491 c.387G>A c.(385-387)tgG>tgA p.W129* NM_138393.1 NP_612402.1 Q96HR9 REEP6_HUMAN receptor accessory protein 6 129 integral to membrane lung(1)|ovary(1) 2 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGCCCTGGAACGGGGCTC 0.662000 26 31 0 0 0.001786 0 0 LILRA1 11024 broad.mit.edu 37 19 55107259 55107259 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55107259C>T ENST00000251372.3 + 6 999 c.817C>T c.(817-819)Ccc>Tcc p.P273S LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 273 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TGGCCCACAGCCCCAGGCTGG 0.602000 29 68 0 0 0.007291 0 0 COL4A3 1285 broad.mit.edu 37 2 228128651 228128651 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:228128651G>A ENST00000396578.3 + 21 1468 c.1306G>A c.(1306-1308)Gga>Aga p.G436R AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 436 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGGACCTCCAGGACCGCCAGG 0.582000 13 29 0 0 0.002450 0 0 LPHN2 23266 broad.mit.edu 37 1 82409444 82409444 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:82409444C>T ENST00000370728.1 + 8 1834 c.1189C>T c.(1189-1191)Cct>Tct p.P397S LPHN2_ENST00000370717.2_Missense_Mutation_p.P397S|LPHN2_ENST00000394879.1_Missense_Mutation_p.P397S|LPHN2_ENST00000370715.1_Missense_Mutation_p.P397S|LPHN2_ENST00000370727.1_Missense_Mutation_p.P397S|LPHN2_ENST00000271029.4_Missense_Mutation_p.P397S|LPHN2_ENST00000319517.6_Missense_Mutation_p.P397S|LPHN2_ENST00000370723.1_Missense_Mutation_p.P397S|LPHN2_ENST00000335786.5_Missense_Mutation_p.P397S|LPHN2_ENST00000370721.1_Missense_Mutation_p.P401S|LPHN2_ENST00000370725.1_Missense_Mutation_p.P397S|LPHN2_ENST00000370713.1_Missense_Mutation_p.P397S|LPHN2_ENST00000370730.1_Missense_Mutation_p.P397S|LPHN2_ENST00000359929.3_Missense_Mutation_p.P397S|LPHN2_ENST00000469377.2_Intron O95490 LPHN2_HUMAN latrophilin 2 397 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCCACCTGATCCTGCCCAAGG 0.343000 13 26 0 0 0.001368 0 0 GRIN1 2902 broad.mit.edu 37 9 140058408 140058408 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:140058408G>A ENST00000350902.5 + 18 2718 c.2641G>A c.(2641-2643)Ggc>Agc p.G881S GRIN1_ENST00000371550.4_Intron|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Intron|GRIN1_ENST00000371553.3_Intron|GRIN1_ENST00000315048.3_Intron|GRIN1_ENST00000371561.3_Intron|GRIN1_ENST00000371559.4_Intron|GRIN1_ENST00000371560.3_Intron|GRIN1_ENST00000371555.4_Intron Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 0 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GCCTGGCCACGGCCCTCCTCC 0.697000 5 18 0 0 0.000602 0 0 PHLPP2 23035 broad.mit.edu 37 16 71715751 71715751 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:71715751G>A ENST00000393524.2 - 5 1526 c.793C>T c.(793-795)Cct>Tct p.P265S PHLPP2_ENST00000568954.1_Missense_Mutation_p.P265S|PHLPP2_ENST00000360429.3_Missense_Mutation_p.P265S|PHLPP2_ENST00000356272.3_Missense_Mutation_p.P265S|PHLPP2_ENST00000567016.1_Missense_Mutation_p.P300S Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 265 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 AGATGCTCAGGAACCTCCTCG 0.473000 47 34 0 0 0.003610 0 0 SGTA 6449 broad.mit.edu 37 19 2762546 2762546 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:2762546G>A ENST00000221566.2 - 7 755 c.594C>T c.(592-594)aaC>aaT p.N198N NM_003021.3 NP_003012.1 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha 198 interspecies interaction between organisms cytoplasm protein binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTATCTTGAGGTTGGACTTGT 0.642000 19 65 0 0 0.001523 0 0 CPAMD8 27151 broad.mit.edu 37 19 17058029 17058029 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:17058029C>T ENST00000443236.1 - 21 2689 c.2658G>A c.(2656-2658)atG>atA p.M886I NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 839 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCGAGAGCTTCATGTACACCT 0.602000 33 106 0 0 0.004289 0 0 DPYS 1807 broad.mit.edu 37 8 105405096 105405096 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:105405096G>A ENST00000351513.2 - 8 1491 c.1359C>T c.(1357-1359)ttC>ttT p.F453F DPYS_ENST00000521601.1_Intron NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 453 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCGTGACACTGAACACTCCGG 0.468000 76 67 0 0 0.003610 0 0 FAM135B 51059 broad.mit.edu 37 8 139190783 139190783 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:139190783G>A ENST00000395297.1 - 10 1194 c.1024C>T c.(1024-1026)Ctg>Ttg p.L342L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 342 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTCACCCTCAGGGTGTGGTGT 0.498000 HNSCC(54;0.14) 12 26 0 0 0.001855 0 0 MORC2 22880 broad.mit.edu 37 22 31328894 31328894 + Missense_Mutation SNP G G C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:31328894G>C ENST00000215862.4 - 23 3681 c.2318C>G c.(2317-2319)aCg>aGg p.T773R MORC2_ENST00000397641.2_Missense_Mutation_p.T835R NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 835 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 TCTTGGTGTCGTGTCTGTGGG 0.622000 156 70 0 0 0.003610 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115537180 115537180 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:115537180G>A ENST00000369310.3 + 12 1741 c.1179G>A c.(1177-1179)agG>agA p.R393R PLEKHS1_ENST00000361048.1_Intron|PLEKHS1_ENST00000354462.3_Intron|PLEKHS1_ENST00000369312.4_Intron|PLEKHS1_ENST00000369309.1_Intron NM_182601.1 NP_872407.1 pleckstrin homology domain containing, family S member 1 ACTCTTTCAGGATTCTTTCAT 0.428000 3 6 0 0 0.000248 0 0 KLK3 354 broad.mit.edu 37 19 51361325 51361325 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:51361325C>T ENST00000360617.3 + 3 247 c.247C>T c.(247-249)Cct>Tct p.P83S KLK3_ENST00000326003.2_Missense_Mutation_p.P83S|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000593997.1_Missense_Mutation_p.P83S P07288 KLK3_HUMAN kallikrein-related peptidase 3 83 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) CCTGTTTCATCCTGAAGACAC 0.542000 15 15 0 0 0.006122 0 0 PSG5 5673 broad.mit.edu 37 19 43679500 43679500 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:43679500C>T ENST00000404580.1 - 4 919 c.831G>A c.(829-831)ggG>ggA p.G277G PSG5_ENST00000407356.1_Silent_p.G277G|PSG5_ENST00000599812.1_Silent_p.G370G|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Silent_p.G277G|PSG5_ENST00000342951.6_Silent_p.G277G Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 277 Ig-like C2-type 2. female pregnancy extracellular region p.G277G(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GCTGAAACTTCCCATTAATTG 0.443000 60 169 0 0 0.003610 0 0 PDHA2 5161 broad.mit.edu 37 4 96761999 96761999 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:96761999G>A ENST00000295266.4 + 1 761 c.698G>A c.(697-699)aGa>aAa p.R233K NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 233 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TCTACTGAGAGAGCAGCAGCC 0.438000 26 6 0 0 0.004656 0 0 DDR2 4921 broad.mit.edu 37 1 162746107 162746107 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:162746107C>T ENST00000367922.2 + 17 2668 c.2230C>T c.(2230-2232)Cag>Tag p.Q744* DDR2_ENST00000367921.3_Nonsense_Mutation_p.Q744* NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 744 Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TTACCGGATCCAGGGCCGGGC 0.493000 28 120 0 0 0.002445 0 0 PPP2R4 5524 broad.mit.edu 37 9 131891299 131891299 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:131891299G>A ENST00000337738.1 + 5 624 c.357G>A c.(355-357)ctG>ctA p.L119L PPP2R4_ENST00000355007.3_Intron|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000357197.4_Silent_p.L55L|PPP2R4_ENST00000452489.2_Silent_p.L119L|PPP2R4_ENST00000348141.5_Silent_p.L90L|PPP2R4_ENST00000358994.4_Silent_p.L84L|PPP2R4_ENST00000393370.2_Silent_p.L84L NM_178001.2 NP_821068.1 Q15257 PTPA_HUMAN protein phosphatase 2A activator, regulatory subunit 4 119 ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) TCAACACGCTGGACAGGTGGA 0.542000 11 30 0 0 0.000978 0 0 DGKB 1607 broad.mit.edu 37 7 14613992 14613992 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:14613992C>T ENST00000403951.2 - 20 2037 c.1618G>A c.(1618-1620)Gaa>Aaa p.E540K DGKB_ENST00000399322.3_Missense_Mutation_p.E540K|DGKB_ENST00000402815.1_Missense_Mutation_p.E539K|DGKB_ENST00000258767.5_Missense_Mutation_p.E540K|DGKB_ENST00000406247.3_Missense_Mutation_p.E540K|DGKB_ENST00000407950.1_Missense_Mutation_p.E532K|DGKB_ENST00000444700.2_Missense_Mutation_p.E521K|DGKB_ENST00000403963.1_5'UTR Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 540 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TTCTCACCTTCGTAACCTAGT 0.323000 22 115 0 0 0.002299 0 0 TRPM6 140803 broad.mit.edu 37 9 77442714 77442714 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:77442714G>A ENST00000451710.3 - 7 1058 c.821C>T c.(820-822)tCt>tTt p.S274F TRPM6_ENST00000360774.1_Missense_Mutation_p.S274F|TRPM6_ENST00000359047.2_Missense_Mutation_p.S274F|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.S269F|TRPM6_ENST00000376864.4_Missense_Mutation_p.S274F|TRPM6_ENST00000376871.3_Missense_Mutation_p.S274F|TRPM6_ENST00000376872.3_Missense_Mutation_p.S274F|TRPM6_ENST00000361255.3_Missense_Mutation_p.S269F Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 274 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTTCTGCAGAGAGAGGTACTT 0.517000 21 42 0 0 0.002780 0 0 PIK3R5 23533 broad.mit.edu 37 17 8808219 8808219 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:8808219G>A ENST00000447110.1 - 5 411 c.287C>T c.(286-288)cCa>cTa p.P96L PIK3R5_ENST00000584803.1_Missense_Mutation_p.P96L|PIK3R5_ENST00000581552.1_Missense_Mutation_p.P96L NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 96 Heterodimerization (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CGAGTCTGGTGGGAAGTGTGG 0.547000 37 32 0 0 0.002222 0 0 AACSP1 729522 broad.mit.edu 37 5 178224592 178224592 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:178224592C>T ENST00000503486.2 - 0 586 NR_024035.1 GGTGCTCCGTCCGATGCTGGA 0.592000 3 10 0 0 0.004672 0 0 MED16 10025 broad.mit.edu 37 19 868158 868158 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:868158G>A ENST00000325464.1 - 16 2727 c.2577C>T c.(2575-2577)caC>caT p.H859H MED16_ENST00000269814.4_3'UTR|MED16_ENST00000589119.1_Silent_p.H859H|MED16_ENST00000312090.6_3'UTR|MED16_ENST00000395808.3_3'UTR NM_005481.2 NP_005472.2 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 859 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGAGAGTGGTGTGTGGACT 0.687000 9 10 0 0 0.004482 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999715 46999715 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:46999715C>T ENST00000374314.4 + 1 1790 c.835C>T c.(835-837)Cac>Tac p.H279Y GPRIN2_ENST00000374317.1_Missense_Mutation_p.H279Y O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 279 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GGTGAAGATCCACTGTAGGTT 0.612000 16 75 0 0 0.004990 0 0 UBASH3B 84959 broad.mit.edu 37 11 122669681 122669681 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:122669681C>T ENST00000284273.5 + 10 1764 c.1389C>T c.(1387-1389)atC>atT p.I463I NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 463 Protein tyrosine phosphatase (By similarity). cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) ATACCATTATCGATCATGTCT 0.443000 16 6 0 0 0.004007 0 0 ABCA1 19 broad.mit.edu 37 9 107555133 107555133 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:107555133C>T ENST00000374736.3 - 42 6085 c.5691G>A c.(5689-5691)cgG>cgA p.R1897R NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1897 R -> W (in HDLD2; uncertain pathogenicity). Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCTGTCTTTCCCGCCTCACAT 0.398000 13 28 0 0 0.001368 0 0 POU4F3 5459 broad.mit.edu 37 5 145719773 145719773 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:145719773G>A ENST00000230732.4 + 2 872 c.783G>A c.(781-783)gaG>gaA p.E261E CTC-359M8.1_ENST00000515598.1_RNA NM_002700.2 NP_002691.1 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 261 sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTACCGAGAGAAGAACAGCA 0.602000 13 53 0 0 0.001368 0 0 DROSHA 29102 broad.mit.edu 37 5 31526377 31526377 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:31526377G>A ENST00000511367.2 - 4 907 c.663C>T c.(661-663)tcC>tcT p.S221S DROSHA_ENST00000442743.1_Silent_p.S221S|DROSHA_ENST00000513349.1_Silent_p.S221S|DROSHA_ENST00000344624.3_Silent_p.S221S NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 221 Arg-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 GCCTTTCTGGGGACCTTCTCT 0.562000 9 47 0 0 0.000673 0 0 GLCCI1 113263 broad.mit.edu 37 7 8110708 8110708 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:8110708C>T ENST00000223145.5 + 6 1681 c.1124C>T c.(1123-1125)tCc>tTc p.S375F NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 375 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) CCCCCGGAATCCCAGGATGGT 0.502000 123 82 0 0 0.003610 0 0 SYT2 127833 broad.mit.edu 37 1 202566020 202566020 + Silent SNP G G A rs139376371 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:202566020G>A ENST00000367267.1 - 9 1317 c.1125C>T c.(1123-1125)ttC>ttT p.F375F SYT2_ENST00000367268.4_Silent_p.F375F NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 375 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) TGCTGCCCACGAAGATCTTGC 0.612000 14 72 0 0 0.004007 0 0 INSR 3643 broad.mit.edu 37 19 7170680 7170680 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:7170680C>A ENST00000341500.5 - 6 1390 c.1351G>T c.(1351-1353)Ggg>Tgg p.G451W INSR_ENST00000302850.5_Missense_Mutation_p.G451W NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 451 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAGAGTTTCCCCTGAGTGATG 0.478000 12 722 0.00244969 0.00392611 0.002450 1 0 ZNF512 84450 broad.mit.edu 37 2 27824259 27824259 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:27824259C>T ENST00000355467.4 + 7 702 c.619C>T c.(619-621)Cgt>Tgt p.R207C ZNF512_ENST00000416005.2_Missense_Mutation_p.R178C|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.R206C|ZNF512_ENST00000413371.2_Missense_Mutation_p.R130C|ZNF512_ENST00000556601.1_Missense_Mutation_p.R76C Q96ME7 ZN512_HUMAN zinc finger protein 512 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) GAAACAACTTCGTTCACTGGC 0.378000 24 82 0 0 0.001786 0 0 CILP2 148113 broad.mit.edu 37 19 19655067 19655067 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:19655067C>T ENST00000586018.1 + 8 1833 c.1731C>T c.(1729-1731)ccC>ccT p.P577P CILP2_ENST00000291495.4_Silent_p.P571P Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 571 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 ACACGATCCCCCTGGGCGAGC 0.632000 25 87 0 0 0.004656 0 0 CYP2C19 1557 broad.mit.edu 37 10 96612635 96612635 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:96612635C>T ENST00000371321.3 + 9 1519 c.1437C>T c.(1435-1437)gtC>gtT p.V479V CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 479 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTGCTTCTGTCCCGCCCTTCT 0.463000 18 74 0 0 0.001523 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884614 24884614 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:24884614C>T ENST00000382554.3 + 9 3977 c.3659C>T c.(3658-3660)tCc>tTc p.S1220F NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1220 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AAGCATTTTTCCCGCTGCATT 0.637000 33 44 0 0 0.002096 0 0 ADAM7 8756 broad.mit.edu 37 8 24304708 24304708 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:24304708G>A ENST00000175238.6 + 3 249 c.166G>A c.(166-168)Gaa>Aaa p.E56K ADAM7_ENST00000441335.2_Missense_Mutation_p.E56K|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.E56K|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 56 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GAAAACGTATGAAGAAGAATT 0.363000 23 23 0 0 0.003954 0 0 SORCS3 22986 broad.mit.edu 37 10 106865176 106865176 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:106865176G>A ENST00000369701.3 + 7 1342 c.1115G>A c.(1114-1116)aGg>aAg p.R372K NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 372 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTCACCTGCAGGATCCAGGAA 0.478000 23 29 0 0 0.002780 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169717389 169717389 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:169717389G>A ENST00000444448.2 + 17 1911 c.1435G>A c.(1435-1437)Ggg>Agg p.G479R NOSTRIN_ENST00000397209.2_Missense_Mutation_p.G394R|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.G479R|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.G394R|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.G344R|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.G422R|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.G344R Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 422 SH3. endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 ATCTTCTGGTGGGCAGAGCAA 0.418000 14 22 0 0 0.003163 0 0 TRBV6-1 28606 broad.mit.edu 37 7 142028416 142028416 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:142028416C>T ENST00000390353.2 + 0 207 ACCATAACTCCATGTACTGGT 0.502000 36 193 0 0 0.007835 0 0 OR5H2 79310 broad.mit.edu 37 3 98002309 98002309 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:98002309C>T ENST00000355273.2 + 1 578 c.578C>T c.(577-579)tCc>tTc p.S193F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S193F(1) breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TTTATGATTTCCTGTACTGAC 0.308000 17 36 0 0 0.004990 0 0 FEZF1 389549 broad.mit.edu 37 7 121943722 121943722 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:121943722G>A ENST00000442488.2 - 1 837 c.770C>T c.(769-771)cCc>cTc p.P257L FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.P257L|FEZF1_ENST00000427185.2_Missense_Mutation_p.P207L NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 257 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GAAAACTTTGGGCTTGGCATT 0.507000 191 18 0 0 0.003610 0 0 PPEF1 5475 broad.mit.edu 37 X 18822164 18822164 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:18822164C>T ENST00000361511.4 + 14 1714 c.1220C>T c.(1219-1221)cCc>cTc p.P407L PPEF1_ENST00000544635.1_Missense_Mutation_p.P342L|PPEF1_ENST00000359763.6_Missense_Mutation_p.P354L|PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000543630.1_Intron NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 407 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) GAATGTAAGCCCGAAGGGTAT 0.433000 20 19 0 0 0.001882 0 0 CHAF1A 10036 broad.mit.edu 37 19 4433242 4433242 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:4433242C>T ENST00000301280.5 + 13 2480 c.2379C>T c.(2377-2379)ccC>ccT p.P793P CHAF1A_ENST00000587368.1_3'UTR NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 793 Binds to p60. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCGCCATCCCCTCTAAGTCCC 0.647000 Chromatin Structure 30 55 0 0 0.001786 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321182 79321182 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:79321182G>A ENST00000428286.1 - 8 6131 c.4931C>T c.(4930-4932)tCa>tTa p.S1644L PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2003L Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2003 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ACCTAGGTATGATTTTTCTTG 0.413000 14 21 0 0 0.004007 0 0 MDN1 23195 broad.mit.edu 37 6 90482425 90482425 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:90482425G>A ENST00000369393.3 - 14 2065 c.1950C>T c.(1948-1950)ttC>ttT p.F650F MDN1_ENST00000428876.1_Silent_p.F650F Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 650 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTGTAGCAGCGAAAGTGAACT 0.498000 17 37 0 0 0.001216 0 0 ENPP3 5169 broad.mit.edu 37 6 131973708 131973708 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:131973708C>T ENST00000414305.1 + 5 632 c.304C>T c.(304-306)Cgt>Tgt p.R102C ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.R102C|ENPP3_ENST00000427148.2_Missense_Mutation_p.R68C|ENPP3_ENST00000357639.3_Missense_Mutation_p.R102C|ENPP3_ENST00000543135.1_Missense_Mutation_p.R68C O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 102 SMB 2. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity p.R102C(1) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CAATAAATTTCGTTGTGGAGA 0.378000 24 32 0 0 0.003954 0 0 SRGAP3 9901 broad.mit.edu 37 3 9106152 9106152 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:9106152C>T ENST00000383836.3 - 5 1027 c.600G>A c.(598-600)atG>atA p.M200I SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.M200I NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 200 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GGAGCAGGTTCATGCTGAGGT 0.577000 T RAF1 pilocytic astrocytoma 29 66 0 0 0.002096 0 0 DNAH7 56171 broad.mit.edu 37 2 196866570 196866570 + Silent SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:196866570T>C ENST00000312428.6 - 11 1102 c.1002A>G c.(1000-1002)gaA>gaG p.E334E DNAH7_ENST00000410072.1_Silent_p.E334E NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 334 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TATTCTGCACTTCTGGAAACC 0.343000 6 13 0 0 0.004482 0 0 CSF1R 1436 broad.mit.edu 37 5 149459766 149459766 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:149459766G>A ENST00000286301.3 - 4 732 c.441C>T c.(439-441)ccC>ccT p.P147P CSF1R_ENST00000543093.1_Silent_p.P147P NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 147 Ig-like C2-type 2. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GGCGCATGAGGGGCCGGCCAC 0.617000 4 47 0 0 0.000602 0 0 IGLV1-51 28820 broad.mit.edu 37 22 22677072 22677072 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:22677072G>A ENST00000390290.2 + 0 136 LL22NC03-80A10.6_ENST00000426066.1_RNA TGCGGCCCCAGGACAGAAGGT 0.567000 108 21 0 0 0.003610 0 0 FBXO44 93611 broad.mit.edu 37 1 11718436 11718436 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:11718436C>T ENST00000376770.1 + 4 876 c.378C>T c.(376-378)ttC>ttT p.F126F FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376768.1_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000251547.5_Silent_p.F126F|FBXO44_ENST00000251546.4_Intron NM_001014765.1 NP_001014765.1 Q9H4M3 FBX44_HUMAN F-box protein 44 126 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) AGAAATACTTCGTTACTTCAT 0.527000 23 48 0 0 0.002780 0 0 SNAP91 9892 broad.mit.edu 37 6 84311154 84311154 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:84311154G>A ENST00000428679.2 - 16 1753 c.1160C>T c.(1159-1161)tCt>tTt p.S387F SNAP91_ENST00000369694.2_Missense_Mutation_p.S387F|SNAP91_ENST00000520302.1_Missense_Mutation_p.S385F|SNAP91_ENST00000521485.1_Missense_Mutation_p.S387F|SNAP91_ENST00000195649.6_Missense_Mutation_p.S387F|SNAP91_ENST00000521743.1_Missense_Mutation_p.S387F|SNAP91_ENST00000439399.2_Missense_Mutation_p.S387F|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 387 Ala-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding p.S387Y(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TGCAGCCAAAGAATCTATATT 0.423000 9 4 0 0 0.000673 0 0 RTN1 6252 broad.mit.edu 37 14 60212477 60212477 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:60212477C>T ENST00000267484.5 - 2 1299 c.964G>A c.(964-966)Gag>Aag p.E322K NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 322 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TCTTCAGGCTCCGAGACAGTG 0.483000 42 11 0 0 0.002852 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716751 13716751 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:13716751C>T ENST00000279593.3 - 13 3630 c.3421G>A c.(3421-3423)Gag>Aag p.E1141K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1141 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTGAGTTCTCCTTTGTTCGG 0.612000 18 14 0 0 0.004990 0 0 PCDHA10 56139 broad.mit.edu 37 5 140235949 140235949 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140235949G>A ENST00000307360.5 + 1 316 c.316G>A c.(316-318)Gag>Aag p.E106K PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E106K|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCACCTGGAGGTGATCGT 0.542000 32 207 0 0 0.002836 0 0 SMG1 23049 broad.mit.edu 37 16 18844455 18844455 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:18844455G>A ENST00000446231.2 - 51 9011 c.8599C>T c.(8599-8601)Cca>Tca p.P2867S SMG1_ENST00000389467.3_Missense_Mutation_p.P2867S Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2867 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 AGTGCTTCTGGAAATATGATT 0.368000 14 23 0 0 0.003163 0 0 CTNNA1 1495 broad.mit.edu 37 5 138163391 138163391 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:138163391C>T ENST00000302763.7 + 7 1136 c.1046C>T c.(1045-1047)tCg>tTg p.S349L CTNNA1_ENST00000355078.5_Missense_Mutation_p.S246L|CTNNA1_ENST00000518825.1_Missense_Mutation_p.S349L NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 349 Interaction with alpha-actinin. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GACCTGCTTTCGGAGTACATG 0.488000 20 64 0 0 0.002299 0 0 BRINP1 1620 broad.mit.edu 37 9 122011339 122011339 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:122011339C>T ENST00000265922.3 - 3 769 c.308G>A c.(307-309)aGg>aAg p.R103K DBC1_ENST00000373964.2_Missense_Mutation_p.R103K NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 103 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCGGATGCTCCTTTGAAACTC 0.567000 10 40 0 0 0.000673 0 0 LGALS4 3960 broad.mit.edu 37 19 39294164 39294164 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:39294164G>A ENST00000307751.4 - 7 1045 c.568C>T c.(568-570)Ccg>Tcg p.P190S NM_006149.3 NP_006140.1 P56470 LEG4_HUMAN lectin, galactoside-binding, soluble, 4 190 cell adhesion cytosol|plasma membrane sugar binding NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) AGCCATACCGGGTTGAAGGTT 0.537000 20 51 0 0 0.003330 0 0 TIMD4 91937 broad.mit.edu 37 5 156381596 156381596 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:156381596G>A ENST00000274532.2 - 2 286 c.230C>T c.(229-231)aCc>aTc p.T77I TIMD4_ENST00000407087.3_Missense_Mutation_p.T77I NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 77 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTTTCTTGAGGTCACCCTCAT 0.527000 107 523 0 0 0.003610 0 0 AADACL4 343066 broad.mit.edu 37 1 12704665 12704665 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:12704665C>T ENST00000376221.1 + 1 100 c.100C>T c.(100-102)Cct>Tct p.P34S NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 34 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) CACGGATATCCCTGCTACCTT 0.522000 38 66 0 0 0.006999 0 0 PDE1C 5137 broad.mit.edu 37 7 31855742 31855742 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:31855742C>T ENST00000396184.3 - 16 1813 c.1609G>A c.(1609-1611)Gaa>Aaa p.E537K PDE1C_ENST00000396193.1_Missense_Mutation_p.E597K|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.E537K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E537K|PDE1C_ENST00000396191.1_Missense_Mutation_p.E537K NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 537 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CGAGCCTTTTCCTCTGCTTCC 0.517000 51 126 0 0 0.003610 0 0 SNTA1 6640 broad.mit.edu 37 20 31997998 31997998 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:31997998G>T ENST00000217381.2 - 6 1451 c.1180C>A c.(1180-1182)Cgc>Agc p.R394S NM_003098.2 NP_003089.1 Q13424 SNTA1_HUMAN syntrophin, alpha 1 394 PH 2. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1) 13 ACAAGCTGGCGGGTCCAGGCA 0.637000 10 20 4.3838e-07 7.0821e-07 0.001855 1 0 MYH1 4619 broad.mit.edu 37 17 10400511 10400511 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10400511C>T ENST00000226207.5 - 33 4626 c.e33-1 CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GAAATCTCCTCTGTTGGTGAA 0.328000 7 28 0 0 0.003080 0 0 CR2 1380 broad.mit.edu 37 1 207644363 207644363 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:207644363G>A ENST00000367057.3 + 8 1613 c.1424G>A c.(1423-1425)gGa>gAa p.G475E CR2_ENST00000367058.3_Missense_Mutation_p.G475E|CR2_ENST00000367059.3_Missense_Mutation_p.G475E|CR2_ENST00000458541.2_Missense_Mutation_p.G475E NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 475 Sushi 8. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GAAGCTACAGGAAGGCAACTC 0.428000 54 77 0 0 0.003610 0 0 MRVI1 10335 broad.mit.edu 37 11 10647561 10647561 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:10647561C>T ENST00000547195.1 - 8 1547 c.1047G>A c.(1045-1047)caG>caA p.Q349Q MRVI1_ENST00000552103.1_Silent_p.Q349Q|MRVI1_ENST00000436272.1_Silent_p.Q413Q|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000558540.1_Silent_p.Q125Q|MRVI1_ENST00000527509.2_Silent_p.Q349Q|MRVI1_ENST00000534266.2_Silent_p.Q125Q|MRVI1_ENST00000421747.1_Silent_p.Q431Q|MRVI1_ENST00000423302.2_Silent_p.Q440Q|MRVI1_ENST00000531107.1_Silent_p.Q432Q|MRVI1_ENST00000545852.1_Silent_p.Q125Q|MRVI1_ENST00000424001.1_Silent_p.Q125Q NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 413 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GCACTTGTATCTGAAAGTCTT 0.587000 9 0 0 0 0.004482 0 0 C6orf25 80739 broad.mit.edu 37 6 31691460 31691460 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:31691460G>A ENST00000375809.3 + 2 117 c.106G>A c.(106-108)Gga>Aga p.G36R C6orf25_ENST00000375805.2_Missense_Mutation_p.G36R|C6orf25_ENST00000375810.4_Missense_Mutation_p.G36R|C6orf25_ENST00000480039.1_Missense_Mutation_p.G36R NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 36 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TCTCTCCTGCGGAGGAGTCTC 0.667000 91 161 0 0 0.003610 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582423 136582423 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:136582423C>T ENST00000531224.1 - 12 2989 c.2737G>A c.(2737-2739)Gac>Aac p.D913N BCLAF1_ENST00000353331.4_Missense_Mutation_p.D862N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D740N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D911N|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D864N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D862N|BCLAF1_ENST00000031135.9_Missense_Mutation_p.D131N NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 913 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTGCGTCTGTCCTTCTTTTCT 0.348000 11 101 0 0 0.001855 0 0 NAALAD2 10003 broad.mit.edu 37 11 89911178 89911178 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:89911178C>T ENST00000534061.1 + 16 1981 c.1751C>T c.(1750-1752)cCt>cTt p.P584L NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.P551L NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 584 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AAAATCATTCCTTTTAATATT 0.338000 27 24 0 0 0.005443 0 0 SPTA1 6708 broad.mit.edu 37 1 158596650 158596650 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158596650C>T ENST00000368148.3 - 41 5992 c.5812G>A c.(5812-5814)Gat>Aat p.D1938N SPTA1_ENST00000368147.3_Missense_Mutation_p.D1935N|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1938 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.D1938N(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTACCACATCAGCCTTCCAG 0.468000 67 103 0 0 0.003610 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269461 150269461 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:150269461G>A ENST00000255945.2 + 3 478 c.303G>A c.(301-303)aaG>aaA p.K101K GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.K115K NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 101 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAACGTCCAAGGAGATTATTC 0.522000 25 64 0 0 0.003330 0 0 PCED1B 91523 broad.mit.edu 37 12 47629193 47629193 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:47629193C>T ENST00000546455.1 + 4 1078 c.347C>T c.(346-348)cCc>cTc p.P116L PCED1B_ENST00000432328.1_Missense_Mutation_p.P116L PC-esterase domain containing 1B GAGCACGCCCCCGACCTGGTC 0.567000 34 47 0 0 0.004289 0 0 HDAC5 10014 broad.mit.edu 37 17 42188139 42188139 + Missense_Mutation SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:42188139C>G ENST00000225983.6 - 3 378 c.55G>C c.(55-57)Gaa>Caa p.E19Q HDAC5_ENST00000586802.1_Missense_Mutation_p.E18Q|HDAC5_ENST00000393622.2_Missense_Mutation_p.E18Q|HDAC5_ENST00000336057.5_Missense_Mutation_p.E18Q Q9UQL6 HDAC5_HUMAN histone deacetylase 5 18 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) GGCAGGATTTCCAAGGATGGT 0.572000 7 32 0 0 0.004482 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52912062 52912062 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:52912062C>A ENST00000371544.3 - 22 3828 c.3566G>T c.(3565-3567)tGg>tTg p.W1189L ZCCHC11_ENST00000257177.4_Missense_Mutation_p.W1189L NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1189 PAP-associated 2. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CAGTCCCAGCCAAAGCTCCCC 0.358000 12 31 1.05317e-09 1.70596e-09 0.002450 1 0 OR4Q3 441669 broad.mit.edu 37 14 20215589 20215589 + Translation_Start_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:20215589G>A ENST00000331723.1 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGGCTTGATGAAAAAAGAAC 0.308000 19 141 0 0 0.006122 0 0 WDR72 256764 broad.mit.edu 37 15 54008826 54008826 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:54008826G>A ENST00000396328.1 - 4 556 c.317C>T c.(316-318)cCt>cTt p.P106L WDR72_ENST00000557913.1_Missense_Mutation_p.P106L|WDR72_ENST00000559418.1_Missense_Mutation_p.P106L|WDR72_ENST00000360509.5_Missense_Mutation_p.P106L NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 106 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GTGCCTGTAAGGAAGTGTAGC 0.418000 29 52 0 0 0.002836 0 0 ALS2CL 259173 broad.mit.edu 37 3 46729610 46729610 + Missense_Mutation SNP G G A rs144978241 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:46729610G>A ENST00000318962.4 - 3 363 c.280C>T c.(280-282)Cgt>Tgt p.R94C ALS2CL_ENST00000415953.1_Missense_Mutation_p.R94C NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 94 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity p.R94C(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) TGCAGTACACGGTCAGCACCT 0.617000 25 23 0 0 0.007291 0 0 MS4A1 931 broad.mit.edu 37 11 60233401 60233401 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:60233401G>A ENST00000534668.1 + 5 633 c.344G>A c.(343-345)gGa>gAa p.G115E MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Missense_Mutation_p.G115E|MS4A1_ENST00000345732.4_Missense_Mutation_p.G115E|MS4A1_ENST00000389939.2_Missense_Mutation_p.G115E NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 115 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) CAGGTCAAAGGAAAAATGATA 0.338000 22 29 0 0 0.002299 0 0 ABHD3 171586 broad.mit.edu 37 18 19282424 19282424 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:19282424G>A ENST00000289119.2 - 3 501 c.362C>T c.(361-363)tCa>tTa p.S121L ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000580981.1_Missense_Mutation_p.S121L NM_138340.4 NP_612213.2 Q8WU67 ABHD3_HUMAN abhydrolase domain containing 3 121 integral to membrane carboxylesterase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2) 10 CCAGTCCAGTGAAATCTGTCC 0.373000 19 14 0 0 0.007413 0 0 PRDM9 56979 broad.mit.edu 37 5 23517998 23517998 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:23517998C>T ENST00000296682.3 + 5 492 c.310C>T c.(310-312)Cct>Tct p.P104S NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 104 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGTCAAACCTCCTTGGATGGC 0.358000 HNSCC(3;0.000094) 100 40 0 0 0.003610 0 0 PTPRT 11122 broad.mit.edu 37 20 40710652 40710652 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:40710652C>T ENST00000373198.3 - 31 4443 c.4208G>A c.(4207-4209)gGg>gAg p.G1403E PTPRT_ENST00000373190.1_Missense_Mutation_p.G1380E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G1384E|PTPRT_ENST00000373187.1_Missense_Mutation_p.G1381E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G1391E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G1390E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G1371E NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1381 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACGGCCTCCCCCATTTCTAAA 0.493000 55 58 0 0 0.003610 0 0 DNM1 1759 broad.mit.edu 37 9 130981516 130981516 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:130981516G>A ENST00000341179.7 + 4 666 c.574G>A c.(574-576)Gag>Aag p.E192K DNM1_ENST00000486160.1_Missense_Mutation_p.E192K|DNM1_ENST00000393594.3_Missense_Mutation_p.E192K|DNM1_ENST00000475805.1_Missense_Mutation_p.E192K|DNM1_ENST00000372923.3_Missense_Mutation_p.E192K NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 192 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 GGTCGCCAAGGAGGTGGACCC 0.582000 21 43 0 0 0.001882 0 0 ICOS 29851 broad.mit.edu 37 2 204820433 204820433 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:204820433C>T ENST00000316386.6 + 2 200 c.133C>T c.(133-135)Cct>Tct p.P45S ICOS_ENST00000435193.1_Missense_Mutation_p.P45S NM_012092.3 NP_036224.1 Q9Y6W8 ICOS_HUMAN inducible T-cell co-stimulator 45 Ig-like V-type. immune response|T cell costimulation extracellular region breast(1)|large_intestine(1)|lung(4) 6 ATGCAAATATCCTGACATTGT 0.368000 26 32 0 0 0.007291 0 0 LIPC 3990 broad.mit.edu 37 15 58840567 58840567 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:58840567G>A ENST00000414170.3 + 7 1134 c.847G>A c.(847-849)Gtg>Atg p.V283M LIPC_ENST00000299022.5_Missense_Mutation_p.V283M|LIPC_ENST00000356113.6_Missense_Mutation_p.V283M|LIPC_ENST00000433326.2_Missense_Mutation_p.V222M P11150 LIPC_HUMAN lipase, hepatic 283 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CGAGCGATCGGTGCACCTTTT 0.577000 55 62 0 0 0.003610 0 0 NDUFS8 4728 broad.mit.edu 37 11 67800476 67800476 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:67800476C>T ENST00000313468.5 + 4 303 c.196C>T c.(196-198)Cga>Tga p.R66* NDUFS8_ENST00000528492.1_Intron NM_002496.3 NP_002487.1 O00217 NDUS8_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 66 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|lung(5)|skin(1) 8 NADH(DB00157) TGAGCTCTTCCGAGGTGCGTC 0.652000 28 26 0 0 0.007291 0 0 MARCH2 51257 broad.mit.edu 37 19 8486881 8486881 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:8486881C>T ENST00000602117.1 + 2 612 c.157C>T c.(157-159)Cgt>Tgt p.R53C MARCH2_ENST00000393944.1_Missense_Mutation_p.R53C|MARCH2_ENST00000381035.4_Missense_Mutation_p.R53C|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.R53C Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase 53 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1) 10 CACCGTCATCCGTGCCTTGGA 0.617000 20 41 0 0 0.003330 0 0 DPP9 91039 broad.mit.edu 37 19 4679940 4679940 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:4679940G>A ENST00000262960.9 - 21 2770 c.2493C>T c.(2491-2493)atC>atT p.I831I DPP9_ENST00000594671.1_Silent_p.I802I|DPP9_ENST00000598800.1_Silent_p.I802I|AC005594.3_ENST00000381796.1_RNA NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 802 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) AGCCGTGGAGGATAAGCAAGC 0.562000 12 6 0 0 0.002450 0 0 KRT78 196374 broad.mit.edu 37 12 53233610 53233610 + Silent SNP C C T rs149571950 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:53233610C>T ENST00000359499.4 - 7 887 c.876G>A c.(874-876)acG>acA p.T292T KRT78_ENST00000304620.4_Silent_p.T402T Q8N1N4 K2C78_HUMAN keratin 78 402 Coil 2.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 GGGAAAGCTTCGTGCTCGTCA 0.617000 12 54 0 0 0.001368 0 0 MED12L 116931 broad.mit.edu 37 3 151094948 151094948 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:151094948G>A ENST00000474524.1 + 28 4231 c.4193G>A c.(4192-4194)gGa>gAa p.G1398E P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G1258E NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1398 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGACAGAATGGAATAAAGACA 0.363000 8 29 0 0 0.000978 0 0 NOL4 8715 broad.mit.edu 37 18 31432826 31432826 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:31432826G>A ENST00000261592.5 - 11 2194 c.1897C>T c.(1897-1899)Ctc>Ttc p.L633F NOL4_ENST00000535384.1_Missense_Mutation_p.L348F|NOL4_ENST00000589544.1_Missense_Mutation_p.L531F|NOL4_ENST00000538587.1_Missense_Mutation_p.L559F|NOL4_ENST00000535475.1_Missense_Mutation_p.L414F|NOL4_ENST00000269185.4_Missense_Mutation_p.L417F NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 633 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TGTAAAATGAGATTTTCCAGT 0.408000 6 28 0 0 0.003080 0 0 C1orf51 148523 broad.mit.edu 37 1 150259285 150259285 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:150259285C>T ENST00000290363.5 + 5 1526 c.1077C>T c.(1075-1077)gcC>gcT p.A359A C1orf51_ENST00000369095.1_Silent_p.A359A|C1orf51_ENST00000369094.1_Silent_p.A271A NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 359 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CCACCTTGGCCAGAAAGATGA 0.537000 20 84 0 0 0.001523 0 0 GXYLT1 283464 broad.mit.edu 37 12 42523607 42523607 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:42523607G>A ENST00000398675.3 - 2 500 c.268C>T c.(268-270)Ccc>Tcc p.P90S GXYLT1_ENST00000280876.6_Intron NM_001099650.1|NM_173601.1 NP_001093120.1|NP_775872.1 Q4G148 GXLT1_HUMAN glucoside xylosyltransferase 1 90 O-glycan processing integral to membrane UDP-xylosyltransferase activity kidney(2)|large_intestine(4)|liver(3)|lung(8) 17 ACATCAGAGGGCAGCATCCAA 0.388000 22 29 0 0 0.003330 0 0 GRIK1 2897 broad.mit.edu 37 21 30934107 30934107 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:30934107G>A ENST00000399914.1 - 14 2670 c.2149C>T c.(2149-2151)Ctg>Ttg p.L717L GRIK1_ENST00000399909.1_Silent_p.L717L|GRIK1_ENST00000389124.2_Silent_p.L732L|GRIK1_ENST00000399907.1_Silent_p.L732L|GRIK1_ENST00000327783.4_Silent_p.L732L|GRIK1_ENST00000389125.3_Silent_p.L717L|GRIK1_ENST00000535441.1_Silent_p.L734L|GRIK1_ENST00000399913.1_Silent_p.L732L|GRIK1_ENST00000309434.7_Silent_p.L734L P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 732 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TTTCTTACCAGGGCGGTCTGC 0.512000 10 19 0 0 0.000978 0 0 ZNF365 22891 broad.mit.edu 37 10 64382881 64382881 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:64382881C>T ENST00000410046.3 + 5 1280 c.1000C>T c.(1000-1002)Cac>Tac p.H334Y ZNF365_ENST00000395251.1_Intron NM_199451.2 NP_955523.1 Q70YC4 TALAN_HUMAN zinc finger protein 365 151 p.H334N(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) CCATATAAACCACCATCTTTC 0.358000 61 61 0 0 0.003610 0 0 FCGBP 8857 broad.mit.edu 37 19 40420125 40420125 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:40420125C>T ENST00000221347.6 - 6 2876 c.2869G>A c.(2869-2871)Gat>Aat p.D957N NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 957 VWFD 2. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACCTGCCCATCTGCTGCTTGG 0.582000 28 16 0 0 0.001786 0 0 SEC22B 9554 broad.mit.edu 37 1 145115850 145115850 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:145115850C>T ENST00000453618.1 + 0 936 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CTGTATTTTTCATCATGTTAA 0.413000 19 238 0 0 0.001523 0 0 ACAP1 9744 broad.mit.edu 37 17 7247255 7247255 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7247255C>T ENST00000158762.3 + 8 855 c.649C>T c.(649-651)Cga>Tga p.R217* ACAP1_ENST00000573893.1_3'UTR NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 217 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 GTCCCAGTATCGAAAGGAGCT 0.652000 7 3 0 0 0.001984 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128956409 128956409 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:128956409C>T ENST00000274487.4 + 9 1704 c.1559C>T c.(1558-1560)tCa>tTa p.S520L CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 520 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GGTGACGTTTCATGGTCTCGA 0.408000 22 104 0 0 0.003954 0 0 DST 667 broad.mit.edu 37 6 56458588 56458588 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:56458588C>T ENST00000370754.5 - 48 12505 c.12506G>A c.(12505-12507)aGa>aAa p.R4169K DST_ENST00000370769.4_Missense_Mutation_p.R3991K|DST_ENST00000421834.2_Missense_Mutation_p.R1903K|DST_ENST00000370788.2_Missense_Mutation_p.R1903K|DST_ENST00000446842.2_Missense_Mutation_p.R3665K|DST_ENST00000361203.3_Missense_Mutation_p.R3989K|DST_ENST00000312431.6_Missense_Mutation_p.R3989K|DST_ENST00000244364.6_Missense_Mutation_p.R1577K Q03001 DYST_HUMAN dystonin 3989 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTCCAACACTCTGTTTCCAGA 0.433000 54 317 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 20959854 20959854 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:20959854G>A ENST00000261383.3 - 57 11293 c.11294C>T c.(11293-11295)tCc>tTc p.S3765F DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3765 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGGAGCGAGGGAGTAATAGTC 0.537000 4 34 0 0 0.000602 0 0 MYH7 4625 broad.mit.edu 37 14 23900656 23900656 + Missense_Mutation SNP C C T rs121913633 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:23900656C>T ENST00000355349.3 - 9 929 c.767G>A c.(766-768)gGa>gAa p.G256E NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 256 Myosin head-like. G -> E (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGCCAACTTTCCTGTTGCCCC 0.502000 75 86 0 0 0.003610 0 0 LINS 55180 broad.mit.edu 37 15 101113902 101113902 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:101113902G>A ENST00000314742.8 - 5 1398 c.1176C>T c.(1174-1176)tcC>tcT p.S392S LINS_ENST00000560133.1_Silent_p.S273S|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Silent_p.S392S NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 392 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TGATTTCTAAGGATTTCATTA 0.338000 21 33 0 0 0.002780 0 0 AGBL2 79841 broad.mit.edu 37 11 47681899 47681899 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:47681899C>T ENST00000525123.1 - 19 2821 c.e19-1 AGBL2_ENST00000298861.4_Splice_Site|AGBL2_ENST00000357610.3_Splice_Site NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 GCTTCTTATTCTGTGCAAATA 0.413000 38 12 0 0 0.005524 0 0 RUFY4 285180 broad.mit.edu 37 2 218940305 218940305 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:218940305G>A ENST00000374155.3 + 8 1560 c.1150G>A c.(1150-1152)Ggg>Agg p.G384R RUFY4_ENST00000344321.7_Missense_Mutation_p.G364R|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000463872.1_3'UTR Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 364 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GAGCAGGCAGGGGTCGGGGGG 0.597000 7 10 0 0 0.000978 0 0 TRIM38 10475 broad.mit.edu 37 6 25983887 25983887 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:25983887C>T ENST00000357085.3 + 8 1846 c.1370C>T c.(1369-1371)cCt>cTt p.P457L TRIM38_ENST00000349458.3_Missense_Mutation_p.P457L NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 457 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 CAATATTCTCCTTTGTTTCTG 0.438000 61 34 0 0 0.003610 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140718902 140718902 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140718902G>A ENST00000394576.2 + 1 364 c.364G>A c.(364-366)Gaa>Aaa p.E122K PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTAGAGGTGGAAATAACAGA 0.448000 33 33 0 0 0.002096 0 0 MTHFD1 4522 broad.mit.edu 37 14 64898264 64898264 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:64898264C>T ENST00000555709.1 + 14 1713 c.1326C>T c.(1324-1326)ctC>ctT p.L442L MTHFD1_ENST00000545908.1_Silent_p.L498L|MTHFD1_ENST00000555252.1_Silent_p.L422L|MTHFD1_ENST00000216605.7_Silent_p.L498L|CTD-2555O16.2_ENST00000556640.1_RNA NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 442 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) ATCTCCACCTCACAGGTGACA 0.443000 16 5 0 0 0.006122 0 0 FNDC1 84624 broad.mit.edu 37 6 159636168 159636168 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:159636168G>A ENST00000297267.9 + 5 852 c.652G>A c.(652-654)Gaa>Aaa p.E218K FNDC1_ENST00000340366.6_Missense_Mutation_p.E218K NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 218 Fibronectin type-III 2. extracellular region p.E218K(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) ACGGACACACGAAATTAAAAA 0.433000 10 34 0 0 0.000978 0 0 RGS12 6002 broad.mit.edu 37 4 3319756 3319756 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:3319756G>A ENST00000336727.3 + 2 2763 c.1859G>A c.(1858-1860)cGa>cAa p.R620Q RGS12_ENST00000344733.5_Missense_Mutation_p.R620Q|RGS12_ENST00000543385.1_Missense_Mutation_p.R620Q|RGS12_ENST00000382788.3_Missense_Mutation_p.R620Q NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 620 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CGAAATGTTCGAAAGACTAAG 0.582000 28 52 0 0 0.006320 0 0 GDF15 9518 broad.mit.edu 37 19 18499380 18499380 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:18499380G>A ENST00000595973.1 + 3 1113 c.562G>A c.(562-564)Gcc>Acc p.A188T GDF15_ENST00000252809.3_Missense_Mutation_p.A188T Q99988 GDF15_HUMAN growth differentiation factor 15 188 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 GCGGCCGCAAGCCGCCAGGGG 0.731000 OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 8 0 0 0.004672 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481302 140481302 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140481302C>T ENST00000231130.2 + 1 1069 c.1069C>T c.(1069-1071)Cct>Tct p.P357S AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 357 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGCCCTATTCCTGAGAACTC 0.493000 14 52 0 0 0.002450 0 0 TNIP3 79931 broad.mit.edu 37 4 122075770 122075770 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:122075770C>T ENST00000454328.1 - 7 655 c.428G>A c.(427-429)gGa>gAa p.G143E TNIP3_ENST00000057513.3_Missense_Mutation_p.G143E|TNIP3_ENST00000507879.1_Missense_Mutation_p.G213E|TNIP3_ENST00000509841.1_Missense_Mutation_p.G220E Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 143 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 AGTATTTTTTCCCTTTAAAAG 0.333000 14 23 0 0 0.001855 0 0 CAMKK2 10645 broad.mit.edu 37 12 121682970 121682970 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:121682970G>A ENST00000324774.5 - 15 2354 c.1526C>T c.(1525-1527)tCa>tTa p.S509L CAMKK2_ENST00000402834.4_Missense_Mutation_p.S509L|CAMKK2_ENST00000392473.2_Missense_Mutation_p.S509L|CAMKK2_ENST00000337174.3_Missense_Mutation_p.S509L|CAMKK2_ENST00000446440.2_Missense_Mutation_p.S466L|CAMKK2_ENST00000392474.2_Missense_Mutation_p.S509L|CAMKK2_ENST00000347034.2_Missense_Mutation_p.S466L|CAMKK2_ENST00000412367.2_Missense_Mutation_p.S509L|CAMKK2_ENST00000545538.1_Missense_Mutation_p.S296L|CAMKK2_ENST00000404169.3_Missense_Mutation_p.S509L|CAMKK2_ENST00000538733.1_Missense_Mutation_p.S466L NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 509 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CGCTGACAGTGAGCGTTCCTC 0.617000 66 147 0 0 0.003610 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714066 70714066 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:70714066G>A ENST00000530196.1 - 0 452 NR_003951.1 CATCTGGGATGAAGAGCTGAT 0.473000 23 36 0 0 0.005443 0 0 KCNMA1 3778 broad.mit.edu 37 10 78943217 78943217 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:78943217G>A ENST00000286627.5 - 5 1722 c.770C>T c.(769-771)cCc>cTc p.P257L KCNMA1_ENST00000354353.5_Missense_Mutation_p.P257L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P257L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P257L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P257L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P257L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P257L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P257L NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 257 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CACAAACACGGGGGGCACCGT 0.458000 19 14 0 0 0.001523 0 0 CWF19L2 143884 broad.mit.edu 37 11 107260883 107260883 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:107260883G>A ENST00000282251.5 - 12 1816 c.1789C>T c.(1789-1791)Cta>Tta p.L597L CWF19L2_ENST00000433523.1_Silent_p.L597L NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 597 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TTTAGGCTTAGATTATCATCA 0.318000 15 20 0 0 0.002450 0 0 OTOP2 92736 broad.mit.edu 37 17 72926903 72926903 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:72926903G>A ENST00000331427.4 + 6 1265 c.1173G>A c.(1171-1173)gtG>gtA p.V391V OTOP2_ENST00000580223.1_Silent_p.V391V NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 391 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) TGGCTGTGGTGGCGGGCACAC 0.607000 25 32 0 0 0.003954 0 0 PKN3 29941 broad.mit.edu 37 9 131476941 131476941 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:131476941C>T ENST00000291906.4 + 12 1975 c.1582C>T c.(1582-1584)Ccg>Tcg p.P528S PKN3_ENST00000485301.1_3'UTR NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 528 Pro-rich. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 CGAGGAGACTCCGGTGAGGGG 0.642000 3 9 0 0 0.004672 0 0 PRPF40B 25766 broad.mit.edu 37 12 50026881 50026881 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:50026881C>T ENST00000261897.1 + 6 900 c.349C>T c.(349-351)Ccc>Tcc p.P117S PRPF40B_ENST00000548825.2_Missense_Mutation_p.P145S|PRPF40B_ENST00000380281.1_Missense_Mutation_p.P123S Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 123 WW 1. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 GTGGGAGAAGCCCAGCGTGCT 0.607000 7 19 0 0 0.003080 0 0 SALL1 6299 broad.mit.edu 37 16 51175758 51175758 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:51175758C>T ENST00000440970.1 - 2 515 c.84G>A c.(82-84)atG>atA p.M28I SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.M125I|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 125 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCTCCACCTCCATGGACTCTT 0.542000 14 11 0 0 0.003163 0 0 N4BP3 23138 broad.mit.edu 37 5 177546597 177546597 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:177546597C>T ENST00000274605.5 + 2 372 c.13C>T c.(13-15)Cca>Tca p.P5S NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 5 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCACAGCCCCAGGCCCTGC 0.642000 44 17 0 0 0.003610 0 0 ATOH8 84913 broad.mit.edu 37 2 85982046 85982046 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:85982046C>A ENST00000306279.3 + 1 1030 c.734C>A c.(733-735)aCc>aAc p.T245N ATOH8_ENST00000463422.1_3'UTR NM_032827.6 NP_116216.2 Q96SQ7 ATOH8_HUMAN atonal homolog 8 (Drosophila) 245 Helix-loop-helix motif. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 5 CGGGTGCACACCATCAGCGCA 0.706000 15 27 1.05317e-09 1.70596e-09 0.002450 1 0 OTOGL 283310 broad.mit.edu 37 12 80729901 80729901 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:80729901C>T ENST00000458043.2 + 38 4560 c.4554C>T c.(4552-4554)tgC>tgT p.C1518C OTOGL_ENST00000547103.1_Silent_p.C1506C NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATATCTGCTGCCCTGAGTGGG 0.418000 7 17 0 0 0.003080 0 0 OR4D11 219986 broad.mit.edu 37 11 59271107 59271107 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:59271107C>T ENST00000313253.1 + 1 59 c.59C>T c.(58-60)tCc>tTc p.S20F NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 CTTACTCAATCCCAAGACCAG 0.388000 16 43 0 0 0.003163 0 0 HELZ2 85441 broad.mit.edu 37 20 62197221 62197221 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:62197221G>A ENST00000467148.1 - 8 3023 c.2954C>T c.(2953-2955)gCc>gTc p.A985V HELZ2_ENST00000427522.2_Missense_Mutation_p.A416V NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CTGCTCCTCGGCCAGGTCCCC 0.697000 20 7 0 0 0.001523 0 0 PVRL4 81607 broad.mit.edu 37 1 161049730 161049730 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:161049730G>A ENST00000368012.3 - 2 391 c.89C>T c.(88-90)cCc>cTc p.P30L NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 30 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CTCACCCGCGGGGCACCGGCC 0.632000 29 45 0 0 0.003271 0 0 ASTN1 460 broad.mit.edu 37 1 176927515 176927515 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:176927515C>T ENST00000367654.2 - 10 1739 c.1726G>A c.(1726-1728)Gac>Aac p.D576N ASTN1_ENST00000367657.3_Missense_Mutation_p.D568N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.D568N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D568N O14525 ASTN1_HUMAN astrotactin 1 576 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ACAGTCATGTCCGTCTTGCAC 0.537000 20 29 0 0 0.002299 0 0 CYP4F8 11283 broad.mit.edu 37 19 15730456 15730456 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:15730456C>T ENST00000441682.2 + 0 472 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 GGGATGGGCTCTTGTTAAGTG 0.522000 5 19 0 0 0.000602 0 0 MEDAG 84935 broad.mit.edu 37 13 31495964 31495964 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:31495964G>A ENST00000380482.4 + 4 1093 c.768G>A c.(766-768)aaG>aaA p.K256K TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA NM_032849.3 NP_116238.2 mesenteric estrogen-dependent adipogenesis CTGACCGAAAGTTCAGTGTAA 0.358000 7 13 0 0 0.004482 0 0 PAPPA 5069 broad.mit.edu 37 9 118997498 118997498 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:118997498C>T ENST00000328252.3 + 7 2683 c.2314C>T c.(2314-2316)Cct>Tct p.P772S PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 772 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACACACGGTTCCTCCAGCCTG 0.562000 26 29 0 0 0.003330 0 0 CALCR 799 broad.mit.edu 37 7 93055755 93055755 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:93055755C>T ENST00000359558.2 - 16 1739 c.1440G>A c.(1438-1440)gaG>gaA p.E480E CALCR_ENST00000421592.1_Silent_p.E462E|CALCR_ENST00000360249.4_Silent_p.E462E|CALCR_ENST00000426151.1_Silent_p.E446E|CALCR_ENST00000394441.1_Silent_p.E446E NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 462 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CATTCCTCAGCTCCTGATGGC 0.562000 42 154 0 0 0.003610 0 0 ASF1B 55723 broad.mit.edu 37 19 14231301 14231301 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:14231301G>A ENST00000263382.3 - 4 1078 c.579C>T c.(577-579)ctC>ctT p.L193L ASF1B_ENST00000592798.1_Silent_p.L134L NM_018154.2 NP_060624.1 Q9NVP2 ASF1B_HUMAN anti-silencing function 1B histone chaperone 193 cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 TCTCAGGGAGGAGGCCAGGGA 0.657000 5 28 0 0 0.001984 0 0 USP28 57646 broad.mit.edu 37 11 113712389 113712389 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:113712389T>C ENST00000003302.4 - 4 438 c.370A>G c.(370-372)Aac>Gac p.N124D USP28_ENST00000537706.1_Missense_Mutation_p.N124D|USP28_ENST00000260188.5_Missense_Mutation_p.N124D|USP28_ENST00000545540.1_5'UTR|USP28_ENST00000542033.1_5'UTR NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 124 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) AATAACCTGTTAAGATCTCTT 0.393000 27 8 0 0 0.005443 0 0 HELZ 9931 broad.mit.edu 37 17 65156472 65156472 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:65156472G>A ENST00000358691.5 - 17 2248 c.2082C>T c.(2080-2082)ctC>ctT p.L694L HELZ_ENST00000580168.1_Silent_p.L695L NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GGGTGCAAATGAGAATCCTGC 0.358000 13 29 0 0 0.001855 0 0 RAD54B 25788 broad.mit.edu 37 8 95390826 95390826 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:95390826G>A ENST00000336148.5 - 13 2408 c.2284C>T c.(2284-2286)Cct>Tct p.P762S NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) ATATGTACAGGATATTTCTGA 0.353000 Direct reversal of damage;Homologous recombination 11 24 0 0 0.002450 0 0 FLT4 2324 broad.mit.edu 37 5 180047291 180047291 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:180047291G>A ENST00000261937.6 - 17 2502 c.2424C>T c.(2422-2424)atC>atT p.I808I FLT4_ENST00000393347.3_Silent_p.I808I|FLT4_ENST00000502649.1_Silent_p.I808I NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 808 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) AGCCCGTCTTGATGTCTGCGT 0.622000 82 38 0 0 0.003610 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013235 73013235 + Silent SNP C C T rs145038184 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:73013235C>T ENST00000308744.6 + 4 1373 c.1275C>T c.(1273-1275)ttC>ttT p.F425F NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Silent_p.F326F|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.F323F NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 425 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GGCTGGCATTCGGCAACAGCA 0.463000 32 35 0 0 0.003271 0 0 CSMD2 114784 broad.mit.edu 37 1 34112365 34112365 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:34112365C>T ENST00000373381.4 - 29 4833 c.4657G>A c.(4657-4659)Gga>Aga p.G1553R CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.G426R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1513 CUB 9. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TAGAAGCTTCCTATGAGAGGG 0.567000 11 11 0 0 0.001368 0 0 NPEPPS 9520 broad.mit.edu 37 17 45669422 45669422 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:45669422A>T ENST00000322157.4 + 11 1598 c.1361A>T c.(1360-1362)gAt>gTt p.D454V NPEPPS_ENST00000530173.1_Missense_Mutation_p.D450V|NPEPPS_ENST00000544660.1_Missense_Mutation_p.D374V|NPEPPS_ENST00000525037.1_3'UTR NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 454 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TACATTGGGGATAAGGTAAAA 0.343000 16 27 0 0 0.007413 0 0 TNXB 7148 broad.mit.edu 37 6 32029321 32029321 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32029321C>T ENST00000375244.3 - 21 7546 c.7345G>A c.(7345-7347)Gac>Aac p.D2449N TNXB_ENST00000375247.2_Missense_Mutation_p.D2449N P22105 TENX_HUMAN tenascin XB 2509 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGCCGCCCGTCCCTGTCCTTG 0.657000 372 286 0 0 0.003610 0 0 DSP 1832 broad.mit.edu 37 6 7583695 7583695 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:7583695T>C ENST00000379802.3 + 24 6541 c.6200T>C c.(6199-6201)cTg>cCg p.L2067P DSP_ENST00000418664.2_Missense_Mutation_p.L1468P NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2067 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AATGAGAAGCTGACTGTCGAC 0.473000 123 58 0 0 0.003610 0 0 ZNF836 162962 broad.mit.edu 37 19 52659810 52659810 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:52659810G>A ENST00000322146.8 - 5 1647 c.1126C>T c.(1126-1128)Cac>Tac p.H376Y CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.H376Y NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 ATTCTCTGGTGATTTACAAGA 0.403000 19 16 0 0 0.001216 0 0 FGD2 221472 broad.mit.edu 37 6 36979490 36979490 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:36979490C>T ENST00000274963.8 + 4 558 c.387C>T c.(385-387)ttC>ttT p.F129F NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 129 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 AGGTGTTTTTCCAGGAGCTGC 0.577000 69 42 0 0 0.003610 0 0 PTGFR 5737 broad.mit.edu 37 1 78958855 78958855 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:78958855C>T ENST00000370756.3 + 2 664 c.427C>T c.(427-429)Cat>Tat p.H143Y PTGFR_ENST00000370757.3_Missense_Mutation_p.H143Y|PTGFR_ENST00000370758.1_Missense_Mutation_p.H143Y NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 143 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity p.H143N(2) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) ACCAATATTTCATTCTACGAA 0.413000 18 38 0 0 0.006122 0 0 SORCS3 22986 broad.mit.edu 37 10 107005369 107005369 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:107005369C>T ENST00000369701.3 + 21 3165 c.2938C>T c.(2938-2940)Cag>Tag p.Q980* SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 980 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CATCACAGTCCAGGTGGCTGC 0.468000 22 47 0 0 0.003330 0 0 PPP1CB 5500 broad.mit.edu 37 2 29006834 29006834 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:29006834C>T ENST00000395366.2 + 5 854 c.582C>T c.(580-582)gtC>gtT p.V194V PPP1CB_ENST00000358506.2_Silent_p.V194V|PPP1CB_ENST00000296122.6_Silent_p.V194V|SPDYA_ENST00000462832.1_3'UTR NM_002709.2 NP_002700.1 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta isozyme 194 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) CTACTGATGTCCCTGATACAG 0.348000 19 19 0 0 0.001882 0 0 SP100 6672 broad.mit.edu 37 2 231380111 231380111 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:231380111T>C ENST00000264052.5 + 25 2751 c.2396T>C c.(2395-2397)gTt>gCt p.V799A SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 799 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ATTGATGATGTTGTGAAGAAA 0.458000 12 32 0 0 0.001368 0 0 KCNG2 26251 broad.mit.edu 37 18 77624193 77624193 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:77624193G>A ENST00000316249.3 + 1 526 c.526G>A c.(526-528)Ggc>Agc p.G176S NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 176 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GGGGCTGGCGGGCAAGCTCTT 0.766000 9 19 0 0 0.006214 0 0 MMD2 221938 broad.mit.edu 37 7 4949534 4949534 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:4949534G>A ENST00000404774.3 - 6 781 c.587C>T c.(586-588)cCc>cTc p.P196L MMD2_ENST00000406755.1_Missense_Mutation_p.P172L|MMD2_ENST00000401401.3_Missense_Mutation_p.P172L NM_001100600.1 NP_001094070.1 Q8IY49 PAQRA_HUMAN monocyte to macrophage differentiation-associated 2 196 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) GACCAGGGCGGGGAAGAAGCC 0.567000 14 16 0 0 0.002450 0 0 LAD1 3898 broad.mit.edu 37 1 201354881 201354881 + Missense_Mutation SNP C C T rs143101113 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:201354881C>T ENST00000391967.2 - 4 1380 c.1079G>A c.(1078-1080)cGa>cAa p.R360Q LAD1_ENST00000367313.3_Missense_Mutation_p.R374Q NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 360 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GCTGTAGGTTCGCTGTGTGGG 0.597000 OREG0014078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 108 70 0 0 0.003610 0 0 MYO3A 53904 broad.mit.edu 37 10 26490203 26490203 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:26490203C>T ENST00000265944.5 + 33 4721 c.4555C>T c.(4555-4557)Caa>Taa p.Q1519* MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1519 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GAAGTCAATCCAAGAAGAAAA 0.244000 4 7 0 0 0.000248 0 0 DUOX2 50506 broad.mit.edu 37 15 45405245 45405245 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:45405245C>T ENST00000389039.6 - 3 485 c.100G>A c.(100-102)Gaa>Aaa p.E34K DUOX2_ENST00000603300.1_Missense_Mutation_p.E34K Q9NRD8 DUOX2_HUMAN dual oxidase 2 34 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CGCTGCACTTCCCAGGGCAGT 0.657000 12 16 0 0 0.001855 0 0 SLC18A2 6571 broad.mit.edu 37 10 119003599 119003599 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:119003599C>T ENST00000298472.5 + 3 382 c.239C>T c.(238-240)tCc>tTc p.S80F SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 80 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) AGCATCTTCTCCTATTATGAT 0.507000 11 38 0 0 0.000673 0 0 PCSK6 5046 broad.mit.edu 37 15 101972284 101972284 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:101972284C>T ENST00000348070.1 - 4 420 c.421G>A c.(421-423)Gaa>Aaa p.E141K PCSK6_ENST00000344273.2_Missense_Mutation_p.E141K|PCSK6_ENST00000358417.3_Missense_Mutation_p.E141K|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.E141K NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 142 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CGTTTCACTTCCTGTTGCTGG 0.458000 14 13 0 0 0.003163 0 0 GPR98 84059 broad.mit.edu 37 5 89949562 89949562 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:89949562G>A ENST00000405460.2 + 20 4267 c.4171G>A c.(4171-4173)Gaa>Aaa p.E1391K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1391 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.E1391K(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACAAACAAACGAATCCCATGT 0.393000 19 4 0 0 0.007413 0 0 GPR45 11250 broad.mit.edu 37 2 105858877 105858877 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:105858877G>A ENST00000258456.1 + 1 678 c.562G>A c.(562-564)Gag>Aag p.E188K NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 188 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 GGGCTACACGGAGCTCCCCGC 0.682000 13 7 0 0 0.001855 0 0 CRB1 23418 broad.mit.edu 37 1 197397075 197397075 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:197397075C>T ENST00000367397.1 + 3 1621 c.763C>T c.(763-765)Ctc>Ttc p.L255F CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.L355F|CRB1_ENST00000367400.3_Missense_Mutation_p.L874F|CRB1_ENST00000535699.1_Missense_Mutation_p.L805F|CRB1_ENST00000367399.2_Missense_Mutation_p.L762F P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 874 EGF-like 6; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CAATGCATCTCTCAATCCAGT 0.383000 17 23 0 0 0.006122 0 0 TBC1D17 79735 broad.mit.edu 37 19 50387558 50387558 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:50387558C>T ENST00000221543.5 + 11 1474 c.1175C>T c.(1174-1176)cCc>cTc p.P392L TBC1D17_ENST00000535102.2_Missense_Mutation_p.P359L NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 392 Rab-GAP TBC. intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) TACGAGGGTCCCGAGAACCCG 0.637000 75 72 0 0 0.003610 0 0 EGLN3 112399 broad.mit.edu 37 14 34419857 34419857 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:34419857G>A ENST00000547327.2 - 1 430 c.102C>T c.(100-102)ttC>ttT p.F34F EGLN3_ENST00000250457.3_Silent_p.F34F|EGLN3_ENST00000553215.1_Intron Q9H6Z9 EGLN3_HUMAN egl-9 family hypoxia-inducible factor 3 34 apoptosis cytoplasm|nucleus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1) 15 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) CCTCGCCCAGGAAGTTGTCCA 0.682000 15 25 0 0 0.004007 0 0 CPSF6 11052 broad.mit.edu 37 12 69652685 69652685 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:69652685T>C ENST00000435070.2 + 6 1120 c.1010T>C c.(1009-1011)cTa>cCa p.L337P CPSF6_ENST00000266679.8_Missense_Mutation_p.L374P|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.L264P NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 337 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CCCCTTACACTAGCTCCTCCT 0.642000 309 96 0 0 0.003610 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28297244 28297244 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:28297244G>A ENST00000414429.1 - 6 1120 c.217C>T c.(217-219)Cac>Tac p.H73Y ZSCAN31_ENST00000439158.1_Missense_Mutation_p.H73Y|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.H73Y|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.H73Y|ZSCAN31_ENST00000446474.1_Intron zinc finger and SCAN domain containing 31 TCTTTGGTGTGGATTTCTGGC 0.552000 174 96 0 0 0.003610 0 0 SERTM1 400120 broad.mit.edu 37 13 37269294 37269294 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:37269294C>T ENST00000315190.3 + 2 525 c.79C>T c.(79-81)Ctg>Ttg p.L27L NM_203451.2 NP_982276.2 A2A2V5 CM036_HUMAN serine-rich and transmembrane domain containing 1 27 integral to membrane TCCCACATCCCTGTCCACGTC 0.473000 46 60 0 0 0.003610 0 0 C15orf53 400359 broad.mit.edu 37 15 38990407 38990407 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:38990407G>A ENST00000318792.1 + 2 211 c.201G>A c.(199-201)tgG>tgA p.W67* NM_207444.2 NP_997327.1 Q8NAA6 CO053_HUMAN chromosome 15 open reading frame 53 67 endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 6 all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321) tcagggattggaatctgggAG 0.488000 22 24 0 0 0.003954 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994321 140994321 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:140994321G>A ENST00000285879.4 + 4 1417 c.1131G>A c.(1129-1131)ggG>ggA p.G377G MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 377 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGATTCCTGGGAGCCCCTCCT 0.483000 HNSCC(15;0.026) 133 11 0 0 0.003610 0 0 SEMA6B 10501 broad.mit.edu 37 19 4550191 4550191 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:4550191C>T ENST00000586582.1 - 12 1525 c.1215G>A c.(1213-1215)atG>atA p.M405I SEMA6B_ENST00000586965.1_Missense_Mutation_p.M405I|SEMA6B_ENST00000301293.3_Missense_Mutation_p.M405I NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 405 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CCGCCTCGTCCATCAGAGGGT 0.672000 27 23 0 0 0.005443 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46056266 46056266 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:46056266C>T ENST00000536708.2 + 11 1244 c.1135C>T c.(1135-1137)Ctt>Ttt p.L379F CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.L354F NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 354 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 GAATCAGTTCCTTGATGAGCT 0.557000 OREG0024508 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 54 0 0 0.005524 0 0 PROX1 5629 broad.mit.edu 37 1 214170398 214170398 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:214170398C>T ENST00000366958.4 + 2 1128 c.520C>T c.(520-522)Cgg>Tgg p.R174W PROX1_ENST00000261454.4_Missense_Mutation_p.R174W|PROX1_ENST00000498508.2_Missense_Mutation_p.R174W|PROX1_ENST00000435016.1_Missense_Mutation_p.R174W NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 174 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GAATATAATTCGGGGTATGAG 0.498000 32 67 0 0 0.003271 0 0 EIF5 1983 broad.mit.edu 37 14 103805664 103805664 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:103805664C>T ENST00000216554.3 + 9 1576 c.900C>T c.(898-900)ttC>ttT p.F300F EIF5_ENST00000392715.2_Silent_p.F300F|EIF5_ENST00000558506.1_Silent_p.F300F NM_001969.4 NP_001960.2 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 300 W2. regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) GGCGCCATTTCCTACGAGTAA 0.398000 47 16 0 0 0.003610 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858517 9858517 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:9858517C>T ENST00000396573.2 - 14 3193 c.2884G>A c.(2884-2886)Gaa>Aaa p.E962K GRIN2A_ENST00000404927.2_Missense_Mutation_p.E962K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E962K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E962K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E805K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E962K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 962 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E962K(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTTTGGAGTTCGTTCATGTTG 0.438000 50 50 0 0 0.003610 0 0 ASXL3 80816 broad.mit.edu 37 18 31324044 31324044 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:31324044C>T ENST00000269197.5 + 12 4232 c.4232C>T c.(4231-4233)cCg>cTg p.P1411L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GTTGCACACCCGACCGTCGCA 0.498000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 59 0 0 0.003610 0 0 NFATC2 4773 broad.mit.edu 37 20 50092036 50092036 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:50092036G>A ENST00000371564.3 - 4 1713 c.1494C>T c.(1492-1494)gtC>gtT p.V498V NFATC2_ENST00000414705.1_Silent_p.V478V|NFATC2_ENST00000396009.3_Silent_p.V498V NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 498 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GTATCTCCAGGACTTTGGTGT 0.577000 70 157 0 0 0.003610 0 0 COL27A1 85301 broad.mit.edu 37 9 117062944 117062944 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:117062944C>T ENST00000356083.3 + 51 5069 c.4678C>T c.(4678-4680)Cct>Tct p.P1560S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1560 Collagen-like 15.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CATCCAGGGCCCTCGGGGGCC 0.622000 6 12 0 0 0.003080 0 0 GRK7 131890 broad.mit.edu 37 3 141497610 141497610 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:141497610C>T ENST00000264952.2 + 1 621 c.484C>T c.(484-486)Ccc>Tcc p.P162S NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 162 RGS. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 GCAAGAGCAGCCCTTTAAGGA 0.552000 20 55 0 0 0.002780 0 0 SLC17A2 10246 broad.mit.edu 37 6 25923992 25923992 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:25923992G>A ENST00000377850.3 - 3 695 c.171C>T c.(169-171)gcC>gcT p.A57A SLC17A2_ENST00000360488.3_Silent_p.A57A|SLC17A2_ENST00000265425.3_Silent_p.A57A O00624 NPT3_HUMAN solute carrier family 17, member 2 57 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 CCTCAGTGGAGGCATTAGATA 0.458000 30 180 0 0 0.002445 0 0 SLC4A9 83697 broad.mit.edu 37 5 139751116 139751116 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:139751116C>T ENST00000230993.6 + 19 2684 c.2649C>T c.(2647-2649)acC>acT p.T883T SLC4A9_ENST00000507527.1_Silent_p.T883T|SLC4A9_ENST00000506757.2_Silent_p.T859T|SLC4A9_ENST00000506545.1_Silent_p.T796T|SLC4A9_ENST00000432095.2_Silent_p.T845T|CTC-329D1.2_ENST00000507521.1_RNA NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 883 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCTCTGACCAGGGTCCACC 0.532000 30 157 0 0 0.003271 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347257 140347257 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140347257C>T ENST00000289269.5 + 1 1438 c.906C>T c.(904-906)gaC>gaT p.D302D PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 302 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACGTCGGACCGGGAGAGGC 0.572000 5 24 0 0 0.001168 0 0 CACNA1F 778 broad.mit.edu 37 X 49071988 49071988 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:49071988G>A ENST00000376265.2 - 28 3346 c.3285C>T c.(3283-3285)gcC>gcT p.A1095A CACNA1F_ENST00000323022.5_Silent_p.A1084A|CACNA1F_ENST00000376251.1_Silent_p.A1030A NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1095 Dihydropyridine binding (By similarity). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) ATGCATCGATGGCCTTGTATA 0.527000 9 2 0 0 0.000673 0 0 COL15A1 1306 broad.mit.edu 37 9 101810096 101810096 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:101810096G>A ENST00000375001.3 + 27 3131 c.2708G>A c.(2707-2709)gGa>gAa p.G903E NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 903 Triple-helical region 5 (COL5). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GGACATAAAGGAGAATTTGGC 0.542000 37 80 0 0 0.007835 0 0 SPNS1 83985 broad.mit.edu 37 16 28993231 28993231 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:28993231C>T ENST00000311008.11 + 7 1196 c.819C>T c.(817-819)ttC>ttT p.F273F SPNS1_ENST00000352260.7_Intron|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000561868.1_Intron|SPNS1_ENST00000565975.1_Silent_p.F318F|SPNS1_ENST00000334536.8_Intron|SPNS1_ENST00000323081.8_Silent_p.F200F NM_032038.2 NP_114427.1 Q9H2V7 SPNS1_HUMAN spinster homolog 1 (Drosophila) 273 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1) 21 GTCCTAGTTTCGTCCTGTCTT 0.597000 OREG0023712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 25 0 0 0.007835 0 0 HOXB6 3216 broad.mit.edu 37 17 46673838 46673838 + Silent SNP C C T rs141275290 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:46673838C>T ENST00000484302.2 - 3 1234 c.612G>A c.(610-612)gaG>gaA p.E204E HOXB-AS3_ENST00000429755.4_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000487849.3_RNA|HOXB6_ENST00000225648.3_Silent_p.E204E|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000467155.2_RNA P17509 HXB6_HUMAN homeobox B6 204 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(4) 7 GCAGTTTGCTCTCCTTTTTCC 0.602000 89 115 0 0 0.003610 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625680 140625680 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140625680C>T ENST00000231173.3 + 1 534 c.534C>T c.(532-534)ttC>ttT p.F178F NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 178 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTCTCATTTCCATGTTTCCA 0.507000 7 29 0 0 0.001984 0 0 MED16 10025 broad.mit.edu 37 19 868157 868157 + Missense_Mutation SNP G G A rs142254775 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:868157G>A ENST00000325464.1 - 16 2728 c.2578C>T c.(2578-2580)Cac>Tac p.H860Y MED16_ENST00000269814.4_3'UTR|MED16_ENST00000589119.1_Missense_Mutation_p.H860Y|MED16_ENST00000312090.6_3'UTR|MED16_ENST00000395808.3_3'UTR NM_005481.2 NP_005472.2 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 860 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGGAGAGTGGTGTGTGGAC 0.687000 9 9 0 0 0.004482 0 0 IL32 9235 broad.mit.edu 37 16 3119012 3119012 + Nonsense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:3119012A>T ENST00000525643.2 + 7 555 c.223A>T c.(223-225)Aaa>Taa p.K75* IL32_ENST00000549213.1_Nonsense_Mutation_p.K75*|IL32_ENST00000548476.1_Nonsense_Mutation_p.K121*|IL32_ENST00000548246.1_Nonsense_Mutation_p.K35*|IL32_ENST00000534507.1_Nonsense_Mutation_p.K121*|IL32_ENST00000533097.2_Nonsense_Mutation_p.K75*|IL32_ENST00000440815.3_Nonsense_Mutation_p.K75*|IL32_ENST00000526464.2_Nonsense_Mutation_p.K75*|IL32_ENST00000531965.1_Nonsense_Mutation_p.K65*|IL32_ENST00000530890.1_Nonsense_Mutation_p.K55*|IL32_ENST00000530538.2_Nonsense_Mutation_p.K75*|IL32_ENST00000396887.3_Nonsense_Mutation_p.K75*|IL32_ENST00000528163.2_Nonsense_Mutation_p.K75*|IL32_ENST00000529550.1_Nonsense_Mutation_p.K75*|IL32_ENST00000548652.1_Nonsense_Mutation_p.K66*|IL32_ENST00000008180.9_Nonsense_Mutation_p.K55*|IL32_ENST00000444393.3_Nonsense_Mutation_p.K75*|IL32_ENST00000396890.2_Nonsense_Mutation_p.K121*|IL32_ENST00000325568.5_Nonsense_Mutation_p.K75*|IL32_ENST00000382213.3_Nonsense_Mutation_p.K66*|IL32_ENST00000552936.1_Nonsense_Mutation_p.K99*|IL32_ENST00000529699.1_Nonsense_Mutation_p.K55*|IL32_ENST00000552664.1_Nonsense_Mutation_p.K75*|IL32_ENST00000552356.1_Nonsense_Mutation_p.K55*|IL32_ENST00000551513.1_Nonsense_Mutation_p.K112*|IL32_ENST00000551122.1_Nonsense_Mutation_p.K75* P24001 IL32_HUMAN interleukin 32 121 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 TCTACTTGAAAAAGAAAGAGA 0.587000 6 15 0 0 0.001855 0 0 CLTA 1211 broad.mit.edu 37 9 36198988 36198988 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:36198988C>T ENST00000433436.2 + 3 469 c.268C>T c.(268-270)Cca>Tca p.P90S CLTA_ENST00000345519.5_Missense_Mutation_p.P90S|CLTA_ENST00000466396.1_Intron|CLTA_ENST00000538225.1_Missense_Mutation_p.P90S|CLTA_ENST00000540080.1_Intron|CLTA_ENST00000396603.2_Missense_Mutation_p.P90S|CLTA_ENST00000470744.1_Missense_Mutation_p.P90S|CLTA_ENST00000242285.6_Missense_Mutation_p.P90S NM_007096.3 NP_009027.1 P09496 CLCA_HUMAN clathrin, light chain A 90 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol structural molecule activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 6 STAD - Stomach adenocarcinoma(86;0.228) AAGTAATGGTCCAACAGACAG 0.398000 23 36 0 0 0.002299 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457059 110457059 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:110457059G>A ENST00000378402.5 + 38 5065 c.4961G>A c.(4960-4962)cGa>cAa p.R1654Q NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1654 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTGATAGGCGATTTGTACTT 0.433000 HNSCC(38;0.096) 53 148 0 0 0.003610 0 0 LILRA2 11027 broad.mit.edu 37 19 55086467 55086467 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55086467C>T ENST00000251377.3 + 5 755 c.622C>T c.(622-624)Cta>Tta p.L208L LILRA2_ENST00000251376.3_Silent_p.L208L|LILRA2_ENST00000391737.1_Silent_p.L196L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.L208L|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) TGTGTGGTCTCTACCCAGTGA 0.582000 92 60 0 0 0.003610 0 0 MACROD1 28992 broad.mit.edu 37 11 63918757 63918757 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:63918757G>A ENST00000255681.6 - 3 537 c.471C>T c.(469-471)ctC>ctT p.L157L MACROD1_ENST00000538595.1_5'UTR NM_014067.3 NP_054786.2 Q9BQ69 MACD1_HUMAN MACRO domain containing 1 157 Macro. breast(1)|large_intestine(3)|lung(6)|skin(1) 11 TGTCGCTGCGGAGCAGGGAGA 0.597000 13 34 0 0 0.001368 0 0 COL4A4 1286 broad.mit.edu 37 2 227954607 227954607 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:227954607C>T ENST00000396625.3 - 21 1643 c.1436G>A c.(1435-1437)gGa>gAa p.G479E COL4A4_ENST00000329662.7_Missense_Mutation_p.G479E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 479 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TGGGCCTCTTCCTCCTGGGGG 0.478000 12 13 0 0 0.001368 0 0 FRG1B 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 10 86 0 0 0.000673 0 0 POF1B 79983 broad.mit.edu 37 X 84569509 84569509 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:84569509C>T ENST00000262753.4 - 9 1031 c.886G>A c.(886-888)Gaa>Aaa p.E296K POF1B_ENST00000373145.3_Missense_Mutation_p.E296K NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 296 E -> A (in dbSNP:rs363751). actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TCAATGTCTTCCGACTGTAAG 0.368000 16 0 0 0 0.006122 0 0 CTNND2 1501 broad.mit.edu 37 5 11732286 11732286 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:11732286C>T ENST00000304623.8 - 2 325 c.136G>A c.(136-138)Gaa>Aaa p.E46K CTNND2_ENST00000359640.2_Missense_Mutation_p.E46K|CTNND2_ENST00000458100.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 46 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GAGGTGGTTTCTGTTTCAGAG 0.478000 54 34 0 0 0.003610 0 0 OR8J1 219477 broad.mit.edu 37 11 56128572 56128572 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:56128572C>T ENST00000303039.3 + 1 882 c.850C>T c.(850-852)Cct>Tct p.P284S NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) GTTGGTAATTCCTATGCTGAA 0.393000 12 49 0 0 0.001855 0 0 OR6C2 341416 broad.mit.edu 37 12 55846726 55846726 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:55846726G>A ENST00000322678.1 + 1 729 c.729G>A c.(727-729)atG>atA p.M243I RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 CATCCCACATGATTGTGGTTT 0.403000 29 278 0 0 0.007291 0 0 SORBS2 8470 broad.mit.edu 37 4 186544548 186544548 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:186544548C>T ENST00000431808.1 - 14 2586 c.2023G>A c.(2023-2025)Gaa>Aaa p.E675K SORBS2_ENST00000418609.1_Missense_Mutation_p.E579K|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.E775K|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.E675K|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 675 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CTGGCTCTTTCGTGTTTTAAC 0.542000 29 89 0 0 0.002096 0 0 SERPINA4 5267 broad.mit.edu 37 14 95029956 95029956 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:95029956C>T ENST00000557004.1 + 2 558 c.137C>T c.(136-138)tCc>tTc p.S46F SERPINA4_ENST00000298841.5_Missense_Mutation_p.S46F|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.S46F P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 46 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GGTGAGGGCTCCCCCAGCCTC 0.567000 18 32 0 0 0.007413 0 0 GPR176 11245 broad.mit.edu 37 15 40093615 40093615 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:40093615G>A ENST00000299092.3 - 4 1461 c.1263C>T c.(1261-1263)gcC>gcT p.A421A GPR176_ENST00000561100.1_Silent_p.A422A|GPR176_ENST00000543580.1_Silent_p.A377A NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 422 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) TCAGGGGTGGGGCAGAGGGCG 0.572000 43 93 0 0 0.001951 0 0 SLC16A12 387700 broad.mit.edu 37 10 91198441 91198441 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:91198441C>T ENST00000341233.4 - 6 1248 c.858G>A c.(856-858)caG>caA p.Q286Q SLC16A12_ENST00000371790.4_Silent_p.Q316Q NM_213606.3 NP_998771.3 Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 286 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 AAGCAGCTTGCTGATGACTCA 0.433000 18 39 0 0 0.007413 0 0 TRAV12-3 28672 broad.mit.edu 37 14 22433746 22433746 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22433746C>T ENST00000390442.3 + 0 67 ATGATGAAATCCTTGAGAGTT 0.348000 15 74 0 0 0.006122 0 0 ZNF106 64397 broad.mit.edu 37 15 42742972 42742972 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:42742972T>C ENST00000263805.4 - 2 1755 c.1429A>G c.(1429-1431)Aaa>Gaa p.K477E ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 AAATTTGTTTTGGTGTTTTTT 0.398000 83 88 0 0 0.003610 0 0 DNAH9 1770 broad.mit.edu 37 17 11786988 11786988 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:11786988C>T ENST00000262442.3 + 56 10960 c.10892C>T c.(10891-10893)tCt>tTt p.S3631F DNAH9_ENST00000454412.2_Missense_Mutation_p.S3631F|DNAH9_ENST00000396001.2_5'UTR NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3631 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCCTCCGCCTCTGGGAACTTC 0.483000 44 46 0 0 0.002852 0 0 PRKCE 5581 broad.mit.edu 37 2 46411916 46411916 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:46411916C>T ENST00000306156.3 + 15 2437 c.2110C>T c.(2110-2112)Cgg>Tgg p.R704W NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon 704 AGC-kinase C-terminal. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) AGACTTTACCCGGGAAGAGCC 0.488000 23 55 0 0 0.001882 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773436 145773436 + Missense_Mutation SNP G G A rs151220486 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:145773436G>A ENST00000276826.5 - 4 1235 c.1034C>T c.(1033-1035)cCc>cTc p.P345L ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P345L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P345L Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 345 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CGACCGCTGGGGAGAGCCGGC 0.692000 8 16 0 0 0.004482 0 0 HOXC5 3222 broad.mit.edu 37 12 54427054 54427054 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:54427054C>T ENST00000312492.2 + 1 418 c.148C>T c.(148-150)Cca>Tca p.P50S HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron NM_018953.2 NP_061826.1 Q00444 HXC5_HUMAN homeobox C5 50 regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1) 12 CATCACTTTCCCACCGCCTGC 0.642000 21 7 0 0 0.001882 0 0 CTCF 10664 broad.mit.edu 37 16 67670719 67670719 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:67670719C>T ENST00000264010.4 + 11 2408 c.1964C>T c.(1963-1965)cCc>cTc p.P655L CTCF_ENST00000401394.1_Missense_Mutation_p.P327L NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 655 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) AGAGGACGACCCCCTGGCAGA 0.602000 39 123 0 0 0.003610 0 0 TNXB 7148 broad.mit.edu 37 6 32049952 32049952 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32049952C>T ENST00000375244.3 - 9 3798 c.3597G>A c.(3595-3597)cgG>cgA p.R1199R TNXB_ENST00000375247.2_Silent_p.R1199R P22105 TENX_HUMAN tenascin XB 1286 Fibronectin type-III 4. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCACCTGGGGCCGTCCATCCC 0.562000 72 474 0 0 0.003610 0 0 FBN1 2200 broad.mit.edu 37 15 48786449 48786449 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:48786449G>A ENST00000316623.5 - 23 3135 c.2680C>T c.(2680-2682)Ccc>Tcc p.P894S NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 894 TB 4. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCACATATGGGATCTGTAATA 0.308000 15 43 0 0 0.004007 0 0 DOCK3 1795 broad.mit.edu 37 3 51297686 51297686 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:51297686G>A ENST00000266037.9 + 23 2307 c.2284G>A c.(2284-2286)Gaa>Aaa p.E762K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 762 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAGTATCCAAGAACTTTTCCA 0.478000 10 23 0 0 0.001368 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457899 45457899 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:45457899G>A ENST00000548424.1 + 0 448 CAGATAGCATGGATATCATCC 0.433000 18 66 0 0 0.007413 0 0 ZNF786 136051 broad.mit.edu 37 7 148769427 148769427 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:148769427G>A ENST00000316286.9 - 3 451 c.179C>T c.(178-180)gCc>gTc p.A60V ZNF786_ENST00000491431.1_Missense_Mutation_p.A146V|ZNF786_ENST00000451334.3_Missense_Mutation_p.A109V Q8N393 ZN786_HUMAN zinc finger protein 786 146 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A145G(1) breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) AGGAGCCCTGGCGTCGTGTCT 0.542000 34 6 0 0 0.004289 0 0 PDE8B 8622 broad.mit.edu 37 5 76646927 76646927 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:76646927G>A ENST00000264917.5 + 9 1100 c.1055G>A c.(1054-1056)gGg>gAg p.G352E PDE8B_ENST00000340978.3_Missense_Mutation_p.G305E|PDE8B_ENST00000342343.4_Missense_Mutation_p.G332E|PDE8B_ENST00000333194.4_Missense_Mutation_p.G352E|PDE8B_ENST00000346042.3_Intron NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 352 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CGGAAATCCGGGGACAGCATC 0.502000 55 392 0 0 0.003610 0 0 FAM13C 220965 broad.mit.edu 37 10 61043174 61043174 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:61043174G>T ENST00000373867.3 - 7 757 c.292C>A c.(292-294)Ccg>Acg p.P98T FAM13C_ENST00000373868.2_Missense_Mutation_p.P181T|FAM13C_ENST00000419214.2_Missense_Mutation_p.P181T|FAM13C_ENST00000435852.2_Missense_Mutation_p.P181T|FAM13C_ENST00000277705.6_Missense_Mutation_p.P202T|FAM13C_ENST00000468840.2_Missense_Mutation_p.P98T|FAM13C_ENST00000422313.2_Missense_Mutation_p.P181T|FAM13C_ENST00000442566.3_Missense_Mutation_p.P202T NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 181 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCTGGCGCCGGGTCCTTGACT 0.522000 93 75 5.62818e-54 9.20171e-54 0.003610 1 0 TPTE 7179 broad.mit.edu 37 21 10951384 10951384 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:10951384G>A ENST00000298232.7 - 9 641 c.274C>T c.(274-276)Ctt>Ttt p.L92F TPTE_ENST00000361285.4_Missense_Mutation_p.L110F|TPTE_ENST00000342420.5_Missense_Mutation_p.L72F|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 110 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGGTCGGCAAGGATGAGAGTG 0.323000 27 68 0 0 0.002096 0 0 HTR4 3360 broad.mit.edu 37 5 147900490 147900490 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:147900490G>A ENST00000362016.2 - 6 707 c.544C>T c.(544-546)Cat>Tat p.H182Y HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000360693.3_Intron Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 169 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) CATACCGCATGAAAATCCTGG 0.448000 34 43 0 0 0.006230 0 0 C1orf87 127795 broad.mit.edu 37 1 60499176 60499176 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:60499176G>A ENST00000371201.3 - 7 1108 c.1001C>T c.(1000-1002)tCg>tTg p.S334L C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 334 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GCCAGAGAACGAGCGATCTTC 0.428000 15 35 0 0 0.003163 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599586 136599586 + Missense_Mutation SNP G G A rs146404127 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:136599586G>A ENST00000531224.1 - 4 685 c.433C>T c.(433-435)Cgt>Tgt p.R145C BCLAF1_ENST00000353331.4_Missense_Mutation_p.R143C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R145C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R143C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R145C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R143C NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 145 Poly-Ser. induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GATGAAGAACGAGAAGAGGAT 0.443000 40 213 0 0 0.006230 0 0 PCDH8 5100 broad.mit.edu 37 13 53418792 53418792 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:53418792C>A ENST00000377942.3 - 3 3319 c.3116G>T c.(3115-3117)gGg>gTg p.G1039V PCDH8_ENST00000338862.4_Missense_Mutation_p.G942V NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 1039 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TGGGAGCCTCCCTGGACGGGG 0.582000 29 46 1.06647e-15 1.73595e-15 0.003755 1 0 TGM1 7051 broad.mit.edu 37 14 24724013 24724013 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:24724013G>A ENST00000206765.6 - 13 2068 c.1945C>T c.(1945-1947)Cca>Tca p.P649S TGM1_ENST00000544573.1_Missense_Mutation_p.P207S NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 649 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) TAGGCCACTGGCATGGTCACA 0.632000 22 20 0 0 0.001882 0 0 HHIPL2 79802 broad.mit.edu 37 1 222705434 222705434 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:222705434C>T ENST00000343410.6 - 6 1655 c.1597G>A c.(1597-1599)Gaa>Aaa p.E533K NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 533 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TTTCTATCTTCCTGCAAAGCC 0.433000 428 230 0 0 0.003610 0 0 PI4KA 5297 broad.mit.edu 37 22 21081523 21081523 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:21081523G>A ENST00000255882.6 - 41 5022 c.4936C>T c.(4936-4938)Cct>Tct p.P1646S PI4KA_ENST00000572273.1_Missense_Mutation_p.P1588S|PI4KA_ENST00000414196.3_Missense_Mutation_p.P398S NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1588 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CTCACCGGAGGGAAGGACCGC 0.662000 35 16 0 0 0.007835 0 0 MAEL 84944 broad.mit.edu 37 1 166973452 166973452 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:166973452G>A ENST00000367872.4 + 6 803 c.559G>A c.(559-561)Gaa>Aaa p.E187K MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.E156K NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 187 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TTCAAATTTTGAACGTGGGCA 0.378000 38 90 0 0 0.002522 0 0 SHKBP1 92799 broad.mit.edu 37 19 41086712 41086712 + Silent SNP C C T rs141174643 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:41086712C>T ENST00000291842.5 + 9 763 c.714C>T c.(712-714)atC>atT p.I238I SHKBP1_ENST00000600733.1_Silent_p.I238I NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 238 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGGCCCATCGAACGACTGG 0.627000 22 54 0 0 0.001523 0 0 ATG2A 23130 broad.mit.edu 37 11 64669578 64669578 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:64669578G>A ENST00000421419.2 - 29 4095 c.3981C>T c.(3979-3981)ccC>ccT p.P1327P ATG2A_ENST00000377264.3_Silent_p.P1325P Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1325 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GTGGTGAAGGGGGTGGGGCCC 0.622000 21 73 0 0 0.002299 0 0 NEFM 4741 broad.mit.edu 37 8 24775312 24775312 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:24775312G>A ENST00000221166.5 + 3 2726 c.1944G>A c.(1942-1944)gtG>gtA p.V648V NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Silent_p.V272V|NEFM_ENST00000437366.2_Intron P07197 NFM_HUMAN neurofilament, medium polypeptide 648 6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AGTCACCAGTGGAAGAGAAAG 0.507000 34 53 0 0 0.003271 0 0 HECW2 57520 broad.mit.edu 37 2 197183391 197183391 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:197183391C>T ENST00000260983.2 - 9 2405 c.2223G>A c.(2221-2223)ggG>ggA p.G741G HECW2_ENST00000409111.1_Silent_p.G385G NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 741 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CCTCCAGGCTCCCCCTCCGCT 0.672000 7 8 0 0 0.003080 0 0 TRAV8-1 28685 broad.mit.edu 37 14 22265623 22265623 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22265623G>A ENST00000390430.2 + 0 165 TGCTGGGGATGATTTTTGCCC 0.438000 7 12 0 0 0.003080 0 0 TRPC4 7223 broad.mit.edu 37 13 38213432 38213432 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:38213432C>T ENST00000379705.3 - 9 2941 c.2084G>A c.(2083-2085)cGa>cAa p.R695Q TRPC4_ENST00000338947.5_Missense_Mutation_p.R522Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.R695Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.R695Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.R695Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.R522Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.R630Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.R700Q|TRPC4_ENST00000426868.2_3'UTR Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 695 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.R695Q(1) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ATCAGCAGCTCGCCTCTGAAA 0.308000 20 34 0 0 0.004656 0 0 ASTN1 460 broad.mit.edu 37 1 176905451 176905451 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:176905451G>A ENST00000367654.2 - 15 2470 c.2457C>T c.(2455-2457)gtC>gtT p.V819V ASTN1_ENST00000367657.3_Silent_p.V811V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.V811V|ASTN1_ENST00000424564.2_Silent_p.V811V O14525 ASTN1_HUMAN astrotactin 1 819 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCACAGACCGGACCTTCCAGT 0.507000 17 41 0 0 0.001216 0 0 WBSCR28 135886 broad.mit.edu 37 7 73275540 73275540 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:73275540C>T ENST00000320531.2 + 1 52 c.16C>T c.(16-18)Cca>Tca p.P6S NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 6 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) GGCCCTTCCTCCAGTCAGATC 0.617000 56 34 0 0 0.003610 0 0 IGFN1 91156 broad.mit.edu 37 1 201191883 201191883 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:201191883C>T ENST00000335211.4 + 20 10348 c.10218C>T c.(10216-10218)ctC>ctT p.L3406L RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_Silent_p.L566L NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCAAGTTCCTCGTGGACTCCA 0.597000 OREG0014073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 15 0 0 0.003163 0 0 C9orf47 286223 broad.mit.edu 37 9 91606022 91606022 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:91606022G>A ENST00000375851.2 + 1 245 c.112G>A c.(112-114)Gac>Aac p.D38N C9orf47_ENST00000334490.5_Missense_Mutation_p.D38N|C9orf47_ENST00000375850.3_Missense_Mutation_p.D38N NM_001001938.3|NM_001142413.1 NP_001001938.1|NP_001135885.1 Q6ZRZ4 CI047_HUMAN chromosome 9 open reading frame 47 38 extracellular region endometrium(1)|large_intestine(1)|liver(1)|lung(1) 4 CCAGACCTCGGACCTGGTTCC 0.602000 5 8 0 0 0.001168 0 0 SCNN1G 6340 broad.mit.edu 37 16 23208611 23208611 + Missense_Mutation SNP G G A rs147199706 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:23208611G>A ENST00000300061.2 + 6 1083 c.940G>A c.(940-942)Gaa>Aaa p.E314K CTC-391G2.1_ENST00000563471.1_RNA NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 314 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) GTACATAAACGAAGAGGAATA 0.493000 12 37 0 0 0.002450 0 0 TAF5L 27097 broad.mit.edu 37 1 229750146 229750146 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:229750146G>A ENST00000366675.3 - 2 172 c.84C>T c.(82-84)ccC>ccT p.P28P TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000258281.2_Silent_p.P28P|TAF5L_ENST00000366676.1_Silent_p.P28P|TAF5L_ENST00000366674.1_Silent_p.P28P NM_001025247.1 NP_001020418.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 28 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) CTTGCTTCAGGGGACCATCTG 0.582000 14 57 0 0 0.003163 0 0 PLD1 5337 broad.mit.edu 37 3 171452666 171452666 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:171452666G>A ENST00000356327.5 - 5 599 c.529C>T c.(529-531)Ctt>Ttt p.L177F PLD1_ENST00000340989.4_Missense_Mutation_p.L177F|PLD1_ENST00000351298.4_Missense_Mutation_p.L177F|PLD1_ENST00000342215.6_Missense_Mutation_p.L177F NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 177 PX. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CTTCTACCAAGGAATTGTTCT 0.438000 27 92 0 0 0.005443 0 0 NPIPB4 440345 broad.mit.edu 37 16 21854892 21854892 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:21854892G>A ENST00000415645.2 - 4 399 c.360C>T c.(358-360)tcC>tcT p.S120S NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Silent_p.S120S|NPIPB4_ENST00000451409.1_5'UTR nuclear pore complex interacting protein family, member B4 GCATACAAATGGACCTCAGCC 0.428000 23 139 0 0 0.002780 0 0 PDCD11 22984 broad.mit.edu 37 10 105184908 105184908 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:105184908C>T ENST00000369797.3 + 20 3025 c.2931C>T c.(2929-2931)tcC>tcT p.S977S NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 977 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AGGGTGTCTCCCTAACCCTCA 0.587000 18 31 0 0 0.006122 0 0 GPR125 166647 broad.mit.edu 37 4 22422588 22422588 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:22422588C>A ENST00000334304.5 - 12 1999 c.1730G>T c.(1729-1731)cGg>cTg p.R577L GPR125_ENST00000508133.1_Missense_Mutation_p.R351L|GPR125_ENST00000502482.1_Missense_Mutation_p.R577L|GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 577 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity p.R577L(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CTCTGGATCCCGCCTCCCATA 0.468000 7 226 0.000157383 0.000253028 0.003080 1 0 WDR62 284403 broad.mit.edu 37 19 36591691 36591691 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:36591691C>T ENST00000401500.2 + 23 2816 c.2781C>T c.(2779-2781)ttC>ttT p.F927F WDR62_ENST00000270301.7_Silent_p.F927F NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 927 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ACCCCTCCTTCCTGCCCCAGC 0.602000 22 77 0 0 0.002299 0 0 ANXA1 301 broad.mit.edu 37 9 75775776 75775776 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:75775776G>A ENST00000376911.1 + 5 1324 c.442G>A c.(442-444)Gaa>Aaa p.E148K ANXA1_ENST00000257497.6_Missense_Mutation_p.E148K P04083 ANXA1_HUMAN annexin A1 148 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) AACTAACAAAGAAATCAGAGA 0.328000 61 94 0 0 0.003610 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161166022 161166022 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:161166022C>T ENST00000367996.4 - 3 1457 c.1029G>A c.(1027-1029)cgG>cgA p.R343R ADAMTS4_ENST00000367995.3_3'UTR NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 343 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TGGCACAGCTCCGAGCCGGGT 0.557000 12 57 0 0 0.001368 0 0 MED1 5469 broad.mit.edu 37 17 37583963 37583963 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:37583963C>T ENST00000300651.6 - 10 953 c.730G>A c.(730-732)Gag>Aag p.E244K MED1_ENST00000394287.3_Missense_Mutation_p.E244K NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 244 Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CCATTATTCTCATGCAAAATG 0.353000 HNSCC(31;0.082) 18 25 0 0 0.002780 0 0 PLA2R1 22925 broad.mit.edu 37 2 160833815 160833815 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:160833815C>T ENST00000283243.7 - 15 2587 c.2381G>A c.(2380-2382)tGg>tAg p.W794* PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.W794* NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 794 C-type lectin 4. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TTTGCATATCCATTCACGTTT 0.343000 6 27 0 0 0.001984 0 0 OR6C74 254783 broad.mit.edu 37 12 55641396 55641396 + Nonsense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:55641396G>T ENST00000343870.4 + 1 415 c.325G>T c.(325-327)Gaa>Taa p.E109* NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 GGGGGCAACTGAATTTTTTCT 0.453000 41 461 5.20006e-24 8.48096e-24 0.002852 1 0 TPM2 7169 broad.mit.edu 37 9 35689740 35689740 + Silent SNP G G C rs138151922 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:35689740G>C ENST00000378292.3 - 1 1277 c.75C>G c.(73-75)gcC>gcG p.A25A TPM2_ENST00000378300.5_Silent_p.A25A|TPM2_ENST00000360958.2_Silent_p.A25A|TPM2_ENST00000329305.2_Silent_p.A25A NM_213674.1 NP_998839.1 P07951 TPM2_HUMAN tropomyosin 2 (beta) 25 muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGTCGGCTTCGGCCTGCTCGG 0.677000 61 82 0 0 0.003610 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145756216 145756216 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:145756216G>A ENST00000276826.5 - 9 3128 c.2927C>T c.(2926-2928)cCc>cTc p.P976L ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P976L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P1007L Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 976 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CGGGATCAGGGGCTCCTCCAG 0.706000 11 9 0 0 0.001368 0 0 NETO1 81832 broad.mit.edu 37 18 70417313 70417313 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:70417313C>T ENST00000327305.6 - 9 2182 c.1525G>A c.(1525-1527)Gat>Aat p.D509N NETO1_ENST00000299430.2_Missense_Mutation_p.D508N|NETO1_ENST00000583169.1_Missense_Mutation_p.D509N NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 509 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity p.D509N(1) NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) ACGGCTTTATCGTGTCTGGAC 0.438000 26 16 0 0 0.002096 0 0 CUL4B 8450 broad.mit.edu 37 X 119680416 119680416 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:119680416G>A ENST00000371322.5 - 4 893 c.832C>T c.(832-834)Cat>Tat p.H278Y CUL4B_ENST00000404115.3_Missense_Mutation_p.H296Y|CUL4B_ENST00000336592.6_Missense_Mutation_p.H283Y NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 296 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGTCTGCAATGGTTTTGCCAG 0.303000 17 20 0 0 0.001216 0 0 DPP6 1804 broad.mit.edu 37 7 154684121 154684121 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:154684121C>T ENST00000404039.1 + 26 2924 c.2337C>T c.(2335-2337)ttC>ttT p.F779F DPP6_ENST00000332007.3_Silent_p.F781F|DPP6_ENST00000427557.1_Silent_p.F736F|DPP6_ENST00000377770.3_Silent_p.F843F NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 843 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TCAACTTCTTCGTGGAATGCT 0.512000 49 110 0 0 0.003610 0 0 CFTR 1080 broad.mit.edu 37 7 117149196 117149196 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:117149196G>A ENST00000003084.6 + 3 405 c.273_splice c.e3+1 p.G91_splice CFTR_ENST00000454343.1_Splice_Site_p.G91_splice NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 91 ABC transmembrane type-1 1. G -> R (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TATATTTAGGGGTAAGGATCT 0.308000 Cystic Fibrosis 14 119 0 0 0.001855 0 0 SMPD3 55512 broad.mit.edu 37 16 68404844 68404844 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:68404844G>A ENST00000219334.5 - 3 1844 c.1241C>T c.(1240-1242)cCc>cTc p.P414L SMPD3_ENST00000568373.1_Missense_Mutation_p.P414L|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Missense_Mutation_p.P414L NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 414 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity p.P414L(1) breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) GTCCATGATGGGGTAGCGGCT 0.577000 9 16 0 0 0.004482 0 0 ASH2L 9070 broad.mit.edu 37 8 37967969 37967969 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:37967969C>T ENST00000343823.6 + 4 783 c.474C>T c.(472-474)ttC>ttT p.F158F ASH2L_ENST00000250635.7_Silent_p.F64F|ASH2L_ENST00000428278.2_Silent_p.F64F|ASH2L_ENST00000521652.1_Silent_p.F64F|ASH2L_ENST00000545394.1_Silent_p.F19F NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 158 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) ATACCTATTTCCTCCGGAAGC 0.428000 31 7 0 0 0.002836 0 0 MYH1 4619 broad.mit.edu 37 17 10411710 10411710 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10411710G>A ENST00000226207.5 - 16 1961 c.1867C>T c.(1867-1869)Ctc>Ttc p.L623F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 623 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCAACAAAGAGGAGAGCCAGA 0.473000 47 36 0 0 0.003610 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717322 222717322 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:222717322C>T ENST00000343410.6 - 2 589 c.531G>A c.(529-531)aaG>aaA p.K177K NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 177 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) AGCAATAGTCCTTGTCAGGAA 0.597000 331 152 0 0 0.003610 0 0 GRID1 2894 broad.mit.edu 37 10 87489366 87489366 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:87489366C>T ENST00000327946.7 - 9 1324 c.1239G>A c.(1237-1239)gcG>gcA p.A413A GRID1_ENST00000536331.1_5'UTR NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 413 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) AGTCCCATGTCGCCAACTGTG 0.532000 Multiple Myeloma(13;0.14) 19 31 0 0 0.001523 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095556 107095556 + RNA SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:107095556T>C ENST00000390630.2 - 0 106 ACCACAGGTGTTTCATGTTCT 0.532000 3 26 0 0 0.000602 0 0 DDX4 54514 broad.mit.edu 37 5 55034816 55034816 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:55034816G>A ENST00000505374.1 + 2 117 c.25G>A c.(25-27)Gaa>Aaa p.E9K DDX4_ENST00000508580.1_3'UTR|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.E9K|DDX4_ENST00000354991.5_Missense_Mutation_p.E9K|DDX4_ENST00000353507.5_Missense_Mutation_p.E9K NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 9 multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TTGGGAAGCAGAAATCAACCC 0.303000 79 30 0 0 0.003610 0 0 KLF17 128209 broad.mit.edu 37 1 44596314 44596314 + Silent SNP C C T rs139118447 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:44596314C>T ENST00000372299.3 + 3 1114 c.1056C>T c.(1054-1056)ttC>ttT p.F352F KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 352 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GCCGGGAGTTCATGAGGTCTG 0.512000 20 31 0 0 0.007413 0 0 TMEM145 284339 broad.mit.edu 37 19 42821907 42821907 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:42821907G>A ENST00000598766.1 + 12 1019 c.1019G>A c.(1018-1020)gGc>gAc p.G340D TMEM145_ENST00000301204.3_Missense_Mutation_p.G316D Q8NBT3 TM145_HUMAN transmembrane protein 145 316 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) TCGCCGGCCGGCTACGGGCTC 0.577000 33 31 0 0 0.002096 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31142941 31142941 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:31142941G>A ENST00000304166.4 + 14 1426 c.1137G>A c.(1135-1137)agG>agA p.R379R ADCYAP1R1_ENST00000396211.2_Silent_p.R407R|ADCYAP1R1_ENST00000409489.1_Silent_p.R435R|ADCYAP1R1_ENST00000409363.1_Silent_p.R358R NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 379 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 TCAGCAAAAGGGAAAGACTCG 0.587000 16 120 0 0 0.003163 0 0 ZNF594 84622 broad.mit.edu 37 17 5085852 5085852 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:5085852G>A ENST00000399604.4 - 1 1840 c.1700C>T c.(1699-1701)gCt>gTt p.A567V ZNF594_ENST00000575779.1_Missense_Mutation_p.A567V Q96JF6 ZN594_HUMAN zinc finger protein 594 567 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ACACCAATAAGCTTTCGCTTC 0.458000 75 52 0 0 0.003610 0 0 NEBL 10529 broad.mit.edu 37 10 21108411 21108411 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:21108411G>A ENST00000377122.4 - 20 2393 c.1997C>T c.(1996-1998)cCg>cTg p.P666L NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 666 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CATGCTTACCGGAGTGGCCTT 0.443000 42 66 0 0 0.003610 0 0 KRTAP19-1 337882 broad.mit.edu 37 21 31852459 31852459 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:31852459C>T ENST00000390689.2 - 1 204 c.178G>A c.(178-180)Gga>Aga p.G60R NM_181607.1 NP_853638.1 Q8IUB9 KR191_HUMAN keratin associated protein 19-1 60 26 X 2 AA repeats of G-[YCGS]. intermediate filament cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 CCGTAGCCTCCAAAGCCAGAG 0.527000 70 115 0 0 0.003610 0 0 FBXL15 79176 broad.mit.edu 37 10 104181773 104181773 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:104181773C>T ENST00000224862.3 + 3 1753 c.437C>T c.(436-438)tCg>tTg p.S146L FBXL15_ENST00000369956.2_Missense_Mutation_p.S142L NM_024326.3 NP_077302.3 Q9H469 FXL15_HUMAN F-box and leucine-rich repeat protein 15 146 Interaction with SMURF1. bone mineralization|dorsal/ventral pattern formation|G2/M transition of mitotic cell cycle|positive regulation of BMP signaling pathway|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding kidney(1) 1 Colorectal(252;0.207) Epithelial(162;1.19e-08)|all cancers(201;2.65e-07) CAGCGCCTGTCGCTCGCGCAC 0.731000 4 13 0 0 0.000248 0 0 PRTG 283659 broad.mit.edu 37 15 55933389 55933389 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:55933389G>A ENST00000389286.4 - 12 2106 c.2059C>T c.(2059-2061)Cat>Tat p.H687Y NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 687 Fibronectin type-III 3. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AGTCTCACATGATATTTTCTT 0.423000 14 52 0 0 0.004990 0 0 MROH2B 133558 broad.mit.edu 37 5 41005013 41005013 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:41005013C>T ENST00000399564.4 - 36 4324 c.3874G>A c.(3874-3876)Gaa>Aaa p.E1292K MROH2B_ENST00000506092.2_Missense_Mutation_p.E847K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGGATTGGTTCCTTCATGAGC 0.493000 5 30 0 0 0.001168 0 0 CMYA5 202333 broad.mit.edu 37 5 79089293 79089293 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:79089293C>T ENST00000446378.2 + 12 11854 c.11823C>T c.(11821-11823)tcC>tcT p.S3941S CTC-431G16.2_ENST00000421252.2_RNA NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3941 B30.2/SPRY. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGCTGCCTTCCTGTGGCCAGC 0.557000 68 27 0 0 0.003610 0 0 FRYL 285527 broad.mit.edu 37 4 48581196 48581196 + Silent SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:48581196A>T ENST00000537810.1 - 23 2926 c.2322T>A c.(2320-2322)tcT>tcA p.S774S FRYL_ENST00000507711.1_Silent_p.S774S|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.S774S|FRYL_ENST00000358350.4_Silent_p.S774S O94915 FRYL_HUMAN FRY-like 774 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GGCTAATAGGAGAAGAGTTCC 0.378000 5 28 0 0 0.001984 0 0 BAHCC1 57597 broad.mit.edu 37 17 79410252 79410252 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:79410252C>T ENST00000307745.7 + 9 1877 c.1877C>T c.(1876-1878)cCg>cTg p.P626L CTGCCTGCGCCGCCGGACGAG 0.662000 4 27 0 0 0.000248 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140732088 140732088 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140732088C>T ENST00000523390.1 + 1 2261 c.2261C>T c.(2260-2262)tCt>tTt p.S754F PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTATTGCCTCTCATTCTGCA 0.517000 21 67 0 0 0.001523 0 0 ZNF362 149076 broad.mit.edu 37 1 33747277 33747277 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:33747277C>T ENST00000539719.1 + 6 943 c.773C>T c.(772-774)cCg>cTg p.P258L ZNF362_ENST00000373428.5_Missense_Mutation_p.P258L NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CACAAGTGCCCGCACTGCTCC 0.582000 42 57 0 0 0.002852 0 0 C1orf94 84970 broad.mit.edu 37 1 34663234 34663234 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:34663234C>T ENST00000488417.1 + 2 849 c.729C>T c.(727-729)ttC>ttT p.F243F C1orf94_ENST00000373374.3_Silent_p.F53F NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 53 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) TGTCCCAGTTCCCACTGAAGT 0.547000 16 24 0 0 0.006122 0 0 NPRL3 8131 broad.mit.edu 37 16 167369 167369 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:167369G>A ENST00000399953.3 - 4 726 c.324C>T c.(322-324)tcC>tcT p.S108S NPRL3_ENST00000399951.3_Intron|NPRL3_ENST00000405960.3_5'UTR NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1 NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1 Q12980 NPRL3_HUMAN nitrogen permease regulator-like 3 (S. cerevisiae) 108 protein binding endometrium(1)|large_intestine(3)|ovary(2) 6 GATCTGTTTTGGAGATCTGTA 0.388000 4 9 0 0 0.000602 0 0 LIPE 3991 broad.mit.edu 37 19 42930782 42930782 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:42930782C>T ENST00000244289.4 - 1 796 c.520G>A c.(520-522)Gaa>Aaa p.E174K LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 174 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) GACGTAGATTCAGTCGGGGCA 0.557000 32 85 0 0 0.003271 0 0 TRHR 7201 broad.mit.edu 37 8 110100443 110100443 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:110100443G>A ENST00000518632.1 + 2 1053 c.702G>A c.(700-702)tgG>tgA p.W234* TRHR_ENST00000311762.2_Nonsense_Mutation_p.W234* P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 234 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CTAAGACATGGAAAAATGATT 0.378000 13 17 0 0 0.002450 0 0 MYC 4609 broad.mit.edu 37 8 128751083 128751083 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:128751083C>T ENST00000377970.2 + 2 1130 c.620C>T c.(619-621)tCg>tTg p.S207L MYC_ENST00000524013.1_Missense_Mutation_p.S206L|MYC_ENST00000259523.6_Missense_Mutation_p.S192L NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 192 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) ATCGACCCCTCGGTGGTCTTC 0.667000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 30 0 0 0.007291 0 0 ZNF829 374899 broad.mit.edu 37 19 37406120 37406120 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:37406120G>A ENST00000520965.1 - 2 259 c.193C>T c.(193-195)Ctg>Ttg p.L65L ZNF829_ENST00000391711.3_5'UTR NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGCTGTCCAGGGTTGGAATC 0.507000 10 24 0 0 0.000673 0 0 ELF5 2001 broad.mit.edu 37 11 34502436 34502436 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:34502436C>T ENST00000312319.2 - 6 813 c.584G>A c.(583-585)tGg>tAg p.W195* ELF5_ENST00000429939.2_Nonsense_Mutation_p.W90*|ELF5_ENST00000257832.2_Nonsense_Mutation_p.W185* NM_001243081.1|NM_198381.1 NP_001230010.1|NP_938195.1 Q9UKW6 ELF5_HUMAN E74-like factor 5 (ets domain transcription factor) 195 cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) CCTATCTTCCCATTCCAGAAT 0.418000 45 13 0 0 0.002852 0 0 MICAL2 9645 broad.mit.edu 37 11 12265648 12265648 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:12265648C>T ENST00000256194.4 + 21 3061 c.2773C>T c.(2773-2775)Cct>Tct p.P925S MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.P925S|MICAL2_ENST00000527546.1_Intron NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 925 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CTCTGCTTCTCCTGCCAGAAA 0.498000 113 34 0 0 0.003610 0 0 TSPEAR 54084 broad.mit.edu 37 21 45947249 45947249 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45947249C>T ENST00000323084.4 - 7 1140 c.1075G>A c.(1075-1077)Gag>Aag p.E359K TSPEAR_ENST00000397916.1_Missense_Mutation_p.E291K NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 359 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 ACGAACTTCTCTTCGGTCCAC 0.552000 17 101 0 0 0.001216 0 0 ZFAND6 54469 broad.mit.edu 37 15 80429958 80429958 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:80429958C>T ENST00000261749.6 + 7 1037 c.615C>T c.(613-615)atC>atT p.I205I ZFAND6_ENST00000558087.1_Silent_p.I205I|ZFAND6_ENST00000559157.1_Silent_p.I193I|ZFAND6_ENST00000561060.1_Silent_p.I205I|ZFAND6_ENST00000559835.1_Silent_p.I205I|ZFAND6_ENST00000559775.1_Silent_p.I205I|ZFAND6_ENST00000558494.1_Silent_p.I205I NM_001242913.1|NM_001242914.1|NM_019006.3 NP_001229842.1|NP_001229843.1|NP_061879.2 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 205 DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 GTGAAAAGATCCAAAAGATTT 0.358000 10 36 0 0 0.006214 0 0 NLRP12 91662 broad.mit.edu 37 19 54313422 54313422 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:54313422C>T ENST00000324134.6 - 3 1659 c.1491G>A c.(1489-1491)atG>atA p.M497I NLRP12_ENST00000391772.1_Missense_Mutation_p.M497I|NLRP12_ENST00000354278.3_Missense_Mutation_p.M497I|NLRP12_ENST00000391775.3_Missense_Mutation_p.M497I|NLRP12_ENST00000351894.4_Missense_Mutation_p.M497I|NLRP12_ENST00000391773.1_Missense_Mutation_p.M497I|NLRP12_ENST00000345770.5_Missense_Mutation_p.M497I|NLRP12_ENST00000535162.1_Missense_Mutation_p.M497I NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 497 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGAAGATGTTCATGTTGAGGA 0.502000 103 56 0 0 0.003610 0 0 RGPD4 285190 broad.mit.edu 37 2 108476199 108476199 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:108476199G>A ENST00000408999.3 + 12 1733 c.1656G>A c.(1654-1656)ttG>ttA p.L552L RGPD4_ENST00000354986.4_Silent_p.L552L NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 552 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CAGCAAAATTGAGACTTTTAG 0.358000 31 91 0 0 0.001512 0 0 TROAP 10024 broad.mit.edu 37 12 49723655 49723655 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:49723655C>A ENST00000551245.1 + 12 1291 c.1180C>A c.(1180-1182)Cgg>Agg p.R394R TROAP_ENST00000547923.1_Silent_p.R102R|TROAP_ENST00000257909.3_Silent_p.R394R Q12815 TROAP_HUMAN trophinin associated protein 394 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 GGTTGCCGTCCGGTTGTTTGA 0.577000 8 327 0.000274275 0.000440745 0.004482 1 0 MAP3K9 4293 broad.mit.edu 37 14 71197228 71197228 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:71197228G>A ENST00000554752.2 - 12 3183 c.3184C>T c.(3184-3186)Ccg>Tcg p.P1062S MAP3K9_ENST00000553414.1_Missense_Mutation_p.P795S|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P1076S|MAP3K9_ENST00000554146.1_Missense_Mutation_p.P790S|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P1039S P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 1062 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CGCTCAGTCGGGGGCAGCGGC 0.662000 9 5 0 0 0.004482 0 0 KCNH3 23416 broad.mit.edu 37 12 49944054 49944054 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:49944054C>T ENST00000257981.6 + 10 2120 c.1860C>T c.(1858-1860)taC>taT p.Y620Y NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 620 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 AGGCCCTCTACTTTGTCTGCT 0.672000 12 72 0 0 0.001855 0 0 LRPPRC 10128 broad.mit.edu 37 2 44201417 44201417 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:44201417A>T ENST00000260665.7 - 9 1084 c.1027T>A c.(1027-1029)Tta>Ata p.L343I LRPPRC_ENST00000409946.1_Missense_Mutation_p.L343I|LRPPRC_ENST00000409659.1_Missense_Mutation_p.L343I NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 343 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ACTAAAAGTAAAATGAGGTTC 0.358000 112 286 0 0 0.003610 0 0 CYP2J2 1573 broad.mit.edu 37 1 60370593 60370593 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:60370593G>A ENST00000371204.3 - 7 1184 c.1141C>T c.(1141-1143)Ccc>Tcc p.P381S CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 381 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) ACTTCCCTGGGAACGTTCAGG 0.547000 21 35 0 0 0.003954 0 0 TRBV19 28568 broad.mit.edu 37 7 142327008 142327008 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:142327008G>A ENST00000390393.3 + 0 514 CGGCCCAAAAGAACCCGACAG 0.493000 68 163 0 0 0.003610 0 0 DSCAM 1826 broad.mit.edu 37 21 41719712 41719712 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:41719712G>A ENST00000400454.1 - 6 1572 c.1095C>T c.(1093-1095)atC>atT p.I365I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 365 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTTCGTGGTTGATCCCTGTGA 0.512000 190 95 0 0 0.003610 0 0 OR10G7 390265 broad.mit.edu 37 11 123909189 123909189 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:123909189G>A ENST00000330487.5 - 1 528 c.520C>T c.(520-522)Cag>Tag p.Q174* NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AAGTAGTGCTGGATCTGGTTG 0.557000 53 34 0 0 0.003610 0 0 DNMT3A 1788 broad.mit.edu 37 2 25469513 25469513 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:25469513G>T ENST00000264709.3 - 10 1592 c.1255C>A c.(1255-1257)Cct>Act p.P419T DNMT3A_ENST00000321117.5_Missense_Mutation_p.P419T|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P230T|DNMT3A_ENST00000402667.1_Missense_Mutation_p.P196T NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 419 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGCCCTTAGGGCCAGAAGGC 0.622000 """Mis, F, N, S""" AML 12 44 4.36969e-10 7.08162e-10 0.001855 1 0 MORC2 22880 broad.mit.edu 37 22 31338233 31338233 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:31338233T>A ENST00000215862.4 - 8 1629 c.266A>T c.(265-267)aAt>aTt p.N89I MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Missense_Mutation_p.N151I NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 151 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 GGTCCGAGCATTCCAGGTGGG 0.502000 162 26 0 0 0.003610 0 0 SNAP47 116841 broad.mit.edu 37 1 227968364 227968364 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:227968364G>A ENST00000366759.4 + 5 1799 c.1385G>A c.(1384-1386)aGg>aAg p.R462K SNAP47_ENST00000366760.1_Missense_Mutation_p.R220K NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 462 t-SNARE coiled-coil homology 2. endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CGGATGAAGAGGCTGACCTAG 0.617000 13 47 0 0 0.002450 0 0 KIAA1804 84451 broad.mit.edu 37 1 233507873 233507873 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:233507873C>T ENST00000366624.3 + 6 1903 c.1642C>T c.(1642-1644)Ccc>Tcc p.P548S MLK4_ENST00000366623.3_Missense_Mutation_p.P548S NM_032435.2 NP_115811.2 CCCGAGCAGCCCCACAATGAT 0.567000 15 71 0 0 0.002450 0 0 UGT1A4 54657 broad.mit.edu 37 2 234627556 234627556 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:234627556G>A ENST00000373409.3 + 1 133 c.90G>A c.(88-90)aaG>aaA p.K30K UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) AGAGTGGAAAGGTGTTGGTGG 0.667000 12 12 0 0 0.001855 0 0 EPHA7 2045 broad.mit.edu 37 6 93964399 93964399 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:93964399C>T ENST00000369303.4 - 14 2682 c.2498G>A c.(2497-2499)gGa>gAa p.G833E NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 833 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) AGGTCTTTCTCCATAAGACAT 0.403000 22 8 0 0 0.001512 0 0 ABCB5 340273 broad.mit.edu 37 7 20793056 20793056 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:20793056G>A ENST00000404938.2 + 27 4155 c.3503G>A c.(3502-3504)aGg>aAg p.R1168K ABCB5_ENST00000258738.6_Missense_Mutation_p.R723K NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 723 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GCTATTGCAAGGGCTCTTCTC 0.408000 63 45 0 0 0.003610 0 0 NPM1 4869 broad.mit.edu 37 5 170818768 170818768 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:170818768C>T ENST00000296930.5 + 4 618 c.317C>T c.(316-318)tCa>tTa p.S106L NPM1_ENST00000351986.6_Missense_Mutation_p.S106L|NPM1_ENST00000517671.1_Missense_Mutation_p.S106L|NPM1_ENST00000393820.2_Missense_Mutation_p.S106L NM_002520.6 NP_002511.1 P06748 NPM_HUMAN nucleophosmin (nucleolar phosphoprotein B23, numatrin) 106 Necessary for interaction with APEX1.|Required for interaction with SENP3. anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding p.S106*(2) NPM1/ALK(632) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 4269 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AAGTGTGGTTCAGGGCCAGTG 0.393000 """T, F """ """ALK, RARA, MLF1""" """NHL, APL, AML""" 64 30 0 0 0.003610 0 0 DNAH17 8632 broad.mit.edu 37 17 76567725 76567725 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:76567725C>T ENST00000389840.5 - 4 803 c.679G>A c.(679-681)Gag>Aag p.E227K DNAH17_ENST00000585328.1_Missense_Mutation_p.E227K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AACTCGAACTCCACTTGGGGC 0.617000 25 47 0 0 0.001786 0 0 GATA2 2624 broad.mit.edu 37 3 128205212 128205212 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:128205212C>T ENST00000341105.2 - 3 561 c.e3-1 GATA2_ENST00000487848.1_Splice_Site|GATA2_ENST00000430265.2_Splice_Site NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) GTCAGGCGGGCTGCGGGCAAA 0.642000 Mis AML(CML blast transformation) 5 22 0 0 0.001168 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255975 15255975 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:15255975C>T ENST00000378116.4 - 8 1618 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 538 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 ATCATACATTCAGTGGGTCTG 0.552000 40 54 0 0 0.003610 0 0 MRPS25 64432 broad.mit.edu 37 3 15093987 15093987 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:15093987C>T ENST00000253686.2 - 4 623 c.483G>A c.(481-483)ggG>ggA p.G161G MRPS25_ENST00000444840.2_3'UTR|MRPS25_ENST00000449354.2_Intron NM_022497.3 NP_071942.1 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 161 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 CTTTGTACTTCCCCCTCATCT 0.602000 34 115 0 0 0.002836 0 0 ZNF518B 85460 broad.mit.edu 37 4 10447216 10447216 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:10447216G>A ENST00000326756.3 - 3 1175 c.737C>T c.(736-738)tCc>tTc p.S246F NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 CCGTGGATTGGAAGCTTTTAG 0.433000 54 78 0 0 0.003610 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43809058 43809058 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:43809058C>T ENST00000291532.3 - 4 1257 c.302G>A c.(301-303)gGg>gAg p.G101E TMPRSS3_ENST00000398397.3_Missense_Mutation_p.G101E|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.G99E|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.G101E|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.G185E NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 101 LDL-receptor class A. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 CTCGTCCTCCCCGTCTTTGCA 0.537000 6 46 0 0 0.003080 0 0 SCN4A 6329 broad.mit.edu 37 17 62034588 62034588 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:62034588C>T ENST00000435607.1 - 13 2386 c.2310G>A c.(2308-2310)atG>atA p.M770I SCN4A_ENST00000578147.1_Missense_Mutation_p.M770I NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 770 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) CGGCCACCTCCATGCAGTCCC 0.607000 27 26 0 0 0.001786 0 0 COL3A1 1281 broad.mit.edu 37 2 189855743 189855743 + Missense_Mutation SNP G G A rs112185887 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:189855743G>A ENST00000304636.3 + 11 982 c.812G>A c.(811-813)cGa>cAa p.R271Q COL3A1_ENST00000317840.5_Missense_Mutation_p.R271Q NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 271 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.R271Q(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TTCGATGGACGAAATGGAGAA 0.279000 42 46 0 0 0.003610 0 0 ZAN 7455 broad.mit.edu 37 7 100350647 100350647 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100350647G>A ENST00000542585.1 + 0 3067 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCATCCCCACGGAAAAACTTA 0.542000 32 161 0 0 0.002096 0 0 NPAP1 23742 broad.mit.edu 37 15 24921510 24921510 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:24921510C>T ENST00000329468.2 + 1 970 c.496C>T c.(496-498)Ccg>Tcg p.P166S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GGATGAGGATCCGGTGCAGAT 0.632000 10 22 0 0 0.006214 0 0 WDR36 134430 broad.mit.edu 37 5 110459595 110459595 + Silent SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:110459595A>T ENST00000506538.2 + 20 2982 c.2409A>T c.(2407-2409)gcA>gcT p.A803A WDR36_ENST00000513710.2_Silent_p.A803A NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 803 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GATATGCTGCACCTGAACAAA 0.368000 10 59 0 0 0.000673 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77398091 77398091 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:77398091C>T ENST00000282849.5 - 5 1384 c.966G>A c.(964-966)atG>atA p.M322I NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 322 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTACCATGTTCATTACTGTGA 0.453000 51 66 0 0 0.003610 0 0 NEXN 91624 broad.mit.edu 37 1 78383812 78383812 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:78383812A>G ENST00000330010.8 + 4 406 c.109A>G c.(109-111)Act>Gct p.T37A NEXN_ENST00000334785.7_Missense_Mutation_p.T101A|NEXN_ENST00000457030.1_Missense_Mutation_p.T101A|NEXN_ENST00000294624.8_Missense_Mutation_p.T101A NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 101 regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) ATTTTTAGGAACTGTGAAGGG 0.338000 18 24 0 0 0.007413 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58601587 58601587 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:58601587G>A ENST00000240727.6 - 2 447 c.48C>T c.(46-48)gcC>gcT p.A16A ZSCAN18_ENST00000600404.1_Silent_p.A72A|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Silent_p.A16A NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 16 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GATCCGGCGGGGCTGGGGAGC 0.627000 14 60 0 0 0.006122 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45518311 45518311 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45518311C>T ENST00000291574.4 + 21 3417 c.3242C>T c.(3241-3243)tCc>tTc p.S1081F NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 1081 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 TCCCTCTGCTCCCTGGAGGTT 0.468000 41 131 0 0 0.003610 0 0 ROR2 4920 broad.mit.edu 37 9 94495542 94495542 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:94495542C>T ENST00000375708.3 - 6 997 c.799G>A c.(799-801)Gag>Aag p.E267K ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E127K NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 267 FZ. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 ATGGTGTACTCCTGGCGGCAC 0.672000 8 4 0 0 0.004482 0 0 TRAV35 28647 broad.mit.edu 37 14 22690332 22690332 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22690332C>T ENST00000390462.1 + 0 291 TCTCAGCATCCATACCTAGTG 0.468000 32 39 0 0 0.002096 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590527 140590527 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140590527C>T ENST00000239450.2 + 1 2237 c.2048C>T c.(2047-2049)gCc>gTc p.A683V PCDHB12_ENST00000541609.1_Missense_Mutation_p.A346V NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 683 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGGCCCAGGCCGACTCGCTC 0.706000 96 61 0 0 0.003610 0 0 LRP1 4035 broad.mit.edu 37 12 57600321 57600321 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57600321C>T ENST00000243077.3 + 76 12122 c.11656C>T c.(11656-11658)Ccc>Tcc p.P3886S NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3886 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCCGGCCACCCCCATTCGGC 0.587000 17 61 0 0 0.004990 0 0 DIP2C 22982 broad.mit.edu 37 10 436680 436680 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:436680C>T ENST00000280886.6 - 11 1471 c.1384_splice c.e11+1 p.G462_splice DIP2C_ENST00000381496.3_Splice_Site_p.G355_splice NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 462 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GGTGGCTTACCTTTAAACTGT 0.537000 32 14 0 0 0.006230 0 0 TAC3 6866 broad.mit.edu 37 12 57406177 57406177 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57406177G>A ENST00000458521.2 - 6 511 c.352C>T c.(352-354)Ccg>Tcg p.P118S TAC3_ENST00000441881.1_Missense_Mutation_p.P100S|TAC3_ENST00000415231.1_Missense_Mutation_p.P118S NM_013251.3 NP_037383.1 Q9UHF0 TKNK_HUMAN tachykinin 3 118 female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway extracellular space|soluble fraction receptor binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 TCTGCTCTCGGGGGATACTTG 0.527000 80 26 0 0 0.003610 0 0 DDX20 11218 broad.mit.edu 37 1 112303708 112303708 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:112303708C>T ENST00000369702.4 + 6 1543 c.923C>T c.(922-924)cCa>cTa p.P308L DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR NM_007204.4 NP_009135.4 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 308 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCAGAATTCCATTTAATCAA 0.368000 12 30 0 0 0.001368 0 0 FCGBP 8857 broad.mit.edu 37 19 40368657 40368657 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:40368657G>A ENST00000221347.6 - 28 12698 c.12691C>T c.(12691-12693)Cct>Tct p.P4231S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4231 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GTGCCATTAGGGAAGACCTGG 0.642000 44 128 0 0 0.003610 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256024 15256024 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:15256024G>A ENST00000378116.4 - 8 1569 c.1563C>T c.(1561-1563)ccC>ccT p.P521P NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 521 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 ATGAAGGCGCGGGGTACAGAT 0.522000 30 70 0 0 0.002445 0 0 DUSP22 56940 broad.mit.edu 37 6 348772 348772 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:348772C>T ENST00000604971.1 + 4 1243 c.130C>T c.(130-132)Cgg>Tgg p.R44W DUSP22_ENST00000605315.1_Missense_Mutation_p.R44W|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000603453.1_Missense_Mutation_p.R44W|DUSP22_ENST00000344450.5_Missense_Mutation_p.R147W|DUSP22_ENST00000419235.2_Missense_Mutation_p.R147W Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 147 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TCTCCAGTATCGGCAGTGGCT 0.517000 38 106 0 0 0.002852 0 0 XIRP2 129446 broad.mit.edu 37 2 168099639 168099639 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:168099639G>A ENST00000409195.1 + 9 1826 c.1737G>A c.(1735-1737)tgG>tgA p.W579* XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.W357*|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.W579*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 404 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCATTAGATGGATCTTTGAGA 0.408000 12 11 0 0 0.001368 0 0 CREB3L2 64764 broad.mit.edu 37 7 137590524 137590524 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:137590524G>A ENST00000330387.6 - 6 1190 c.839C>T c.(838-840)cCc>cTc p.P280L CREB3L2_ENST00000456390.1_Missense_Mutation_p.P280L NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 280 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 GGTGGGGATGGGATAGCCCTC 0.517000 T FUS fibromyxoid sarcoma 70 201 0 0 0.003610 0 0 ABI2 10152 broad.mit.edu 37 2 204231653 204231653 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:204231653C>T ENST00000295851.4 + 2 467 c.171C>T c.(169-171)tcC>tcT p.S57S ABI2_ENST00000261016.6_5'UTR|ABI2_ENST00000422511.2_Silent_p.S57S|ABI2_ENST00000430418.1_Silent_p.S57S|ABI2_ENST00000424558.1_Silent_p.S57S|ABI2_ENST00000261017.5_Silent_p.S57S Q9NYB9 ABI2_HUMAN abl-interactor 2 57 t-SNARE coiled-coil homology. actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 15 CCACCCAATCCTTAGCAAGTG 0.433000 11 13 0 0 0.000978 0 0 DLX3 1747 broad.mit.edu 37 17 48072125 48072125 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:48072125A>T ENST00000434704.2 - 1 463 c.238T>A c.(238-240)Tac>Aac p.Y80N NM_005220.2 NP_005211.1 O60479 DLX3_HUMAN distal-less homeobox 3 80 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 TTGGGCGAGTAAGCGCCCGTG 0.622000 40 50 0 0 0.006230 0 0 DLG2 1740 broad.mit.edu 37 11 83183773 83183773 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:83183773C>T ENST00000398309.2 - 18 2496 c.2026G>A c.(2026-2028)Gaa>Aaa p.E676K DLG2_ENST00000418306.2_Missense_Mutation_p.E555K|DLG2_ENST00000404783.3_Missense_Mutation_p.E154K|DLG2_ENST00000376104.2_Missense_Mutation_p.E781K|DLG2_ENST00000543673.1_Missense_Mutation_p.E781K|DLG2_ENST00000426717.2_Missense_Mutation_p.E140K|DLG2_ENST00000531015.1_Missense_Mutation_p.E643K|DLG2_ENST00000376106.3_Missense_Mutation_p.E140K|DLG2_ENST00000537455.1_Missense_Mutation_p.E426K|DLG2_ENST00000330014.6_Missense_Mutation_p.E597K|DLG2_ENST00000532653.1_Missense_Mutation_p.E658K|DLG2_ENST00000280241.8_Missense_Mutation_p.E715K|DLG2_ENST00000524982.1_Missense_Mutation_p.E672K NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 676 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AACTTACTTTCCTGCCTTGTA 0.418000 22 61 0 0 0.002780 0 0 CATSPER3 347732 broad.mit.edu 37 5 134343724 134343724 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:134343724C>A ENST00000282611.6 + 4 656 c.570C>A c.(568-570)atC>atA p.I190I NM_178019.2 NP_821138.1 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 190 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCATGTACATCTTCGCTATCT 0.557000 28 42 1.06801e-11 1.7338e-11 0.001786 1 0 SEPT12 124404 broad.mit.edu 37 16 4833664 4833664 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:4833664C>T ENST00000268231.8 - 6 879 c.616G>A c.(616-618)Gcc>Acc p.A206T SEPT12_ENST00000396693.5_Missense_Mutation_p.A160T NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 206 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 CGCCTGAAGGCCTCTCGCTCC 0.677000 22 29 0 0 0.003954 0 0 TAOK1 57551 broad.mit.edu 37 17 27844552 27844552 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:27844552C>T ENST00000261716.3 + 16 2305 c.1786C>T c.(1786-1788)Caa>Taa p.Q596* TAOK1_ENST00000536202.1_Intron NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 596 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) ACAGCATTTCCAAGCAGAAGA 0.413000 32 116 0 0 0.004289 0 0 PKP2 5318 broad.mit.edu 37 12 32974422 32974422 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:32974422G>A ENST00000340811.4 - 9 1989 c.1881C>T c.(1879-1881)ccC>ccT p.P627P PKP2_ENST00000070846.6_Silent_p.P671P NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 671 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CCACGCCCTTGGGGTTGCTCT 0.478000 33 41 0 0 0.002836 0 0 TERF2 7014 broad.mit.edu 37 16 69404472 69404472 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:69404472G>A ENST00000254942.3 - 5 770 c.754C>T c.(754-756)Cag>Tag p.Q252* TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Nonsense_Mutation_p.Q252*|TERF2_ENST00000603068.1_Nonsense_Mutation_p.Q210* NM_005652.3 NP_005643.2 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 210 age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity NS(2)|breast(1)|large_intestine(3)|lung(1) 7 Ovarian(137;0.101) GAAAAGTTCTGGATAACAGGA 0.488000 18 40 0 0 0.002299 0 0 CHRM1 1128 broad.mit.edu 37 11 62677552 62677552 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:62677552G>A ENST00000306960.3 - 2 1562 c.1021C>T c.(1021-1023)Cag>Tag p.Q341* AP000438.2_ENST00000543624.1_RNA NM_000738.2 NP_000729.2 P11229 ACM1_HUMAN cholinergic receptor, muscarinic 1 341 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding large_intestine(5)|lung(3)|stomach(1) 9 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) CGGGGCTTCTGGCCCTTGCCA 0.637000 25 17 0 0 0.005443 0 0 LRP1B 53353 broad.mit.edu 37 2 141128357 141128357 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:141128357G>A ENST00000389484.3 - 71 11901 c.10930C>T c.(10930-10932)Cac>Tac p.H3644Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3644 LDL-receptor class A 29. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGAATACAGTGGGCTTTATTT 0.388000 TSP Lung(27;0.18) 63 48 0 0 0.003610 0 0 PAK4 10298 broad.mit.edu 37 19 39660353 39660353 + Missense_Mutation SNP G G T rs148292608 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:39660353G>T ENST00000599386.1 + 3 341 c.160G>T c.(160-162)Gtc>Ttc p.V54F PAK4_ENST00000360442.3_Missense_Mutation_p.V54F|PAK4_ENST00000358301.3_Missense_Mutation_p.V54F|PAK4_ENST00000435673.2_Missense_Mutation_p.V54F|PAK4_ENST00000599470.1_Missense_Mutation_p.V54F|PAK4_ENST00000593690.1_Missense_Mutation_p.V54F|PAK4_ENST00000321944.4_Missense_Mutation_p.V54F NM_001014835.1 NP_001014835.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 54 Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) CAAGCCCCTCGTCGACCCCGC 0.711000 13 15 1.5739e-10 2.55256e-10 0.004007 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47648699 47648699 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:47648699A>T ENST00000371917.4 + 38 5177 c.5177A>T c.(5176-5178)gAa>gTa p.E1726V NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1726 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) ATAAATGATGAAAAGGTATGA 0.383000 38 76 0 0 0.006230 0 0 HCRTR1 3061 broad.mit.edu 37 1 32086542 32086542 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:32086542G>A ENST00000403528.2 + 5 862 c.477G>A c.(475-477)cgG>cgA p.R159R HCRTR1_ENST00000373706.5_Silent_p.R159R|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.R159R NM_001525.2 NP_001516.2 O43613 OX1R_HUMAN hypocretin (orexin) receptor 1 159 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) GCACAGCCCGGCGGGCCCGTG 0.617000 15 23 0 0 0.003163 0 0 ST18 9705 broad.mit.edu 37 8 53079532 53079532 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:53079532C>T ENST00000276480.7 - 11 1767 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 362 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E362K(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCCCTCTTTTCAGGCCTTGGT 0.512000 44 93 0 0 0.003610 0 0 NUMA1 4926 broad.mit.edu 37 11 71724483 71724483 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:71724483G>A ENST00000393695.3 - 15 4397 c.4066C>T c.(4066-4068)Ctg>Ttg p.L1356L NUMA1_ENST00000358965.6_Silent_p.L1356L|NUMA1_ENST00000351960.6_Intron NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1356 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TCACTCACCAGGGCCTGTGTG 0.632000 T RARA APL 12 25 0 0 0.000978 0 0 UBR5 51366 broad.mit.edu 37 8 103306290 103306290 + Silent SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:103306290T>A ENST00000520539.1 - 33 4848 c.4242A>T c.(4240-4242)acA>acT p.T1414T UBR5_ENST00000220959.4_Silent_p.T1414T|UBR5_ENST00000521922.1_Silent_p.T1408T NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1414 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TACGTCCAGGTGTATATTTGT 0.338000 27 37 0 0 0.006320 0 0 MAN2A2 4122 broad.mit.edu 37 15 91461529 91461529 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:91461529C>T ENST00000360468.3 + 20 3118 c.3100C>T c.(3100-3102)Cca>Tca p.P1034S MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000559717.1_Missense_Mutation_p.P1034S|MAN2A2_ENST00000430376.2_Missense_Mutation_p.P224S|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P542S NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 1034 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GATGCAGCTCCCAGGCCCTGG 0.612000 377 479 0 0 0.003610 0 0 SLC13A1 6561 broad.mit.edu 37 7 122787233 122787233 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:122787233G>A ENST00000194130.2 - 7 831 c.792C>T c.(790-792)atC>atT p.I264I SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 264 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) ACTCTGCAAAGATCAAGTTGG 0.388000 39 3 0 0 0.002222 0 0 SAA2 6289 broad.mit.edu 37 11 18266935 18266935 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:18266935C>T ENST00000526900.1 - 4 541 c.358G>A c.(358-360)Gag>Aag p.E120K SAA2_ENST00000529528.1_Missense_Mutation_p.E120K|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.E120K serum amyloid A2 central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 CAGTATTTCTCAGGCAGGCCA 0.582000 32 9 0 0 0.006999 0 0 OR1C1 26188 broad.mit.edu 37 1 247921397 247921397 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:247921397G>A ENST00000408896.2 - 1 585 c.312C>T c.(310-312)ttC>ttT p.F104F NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CAAAAGAAACGAAGAAGAAGA 0.473000 19 19 0 0 0.007413 0 0 SLC5A3 6526 broad.mit.edu 37 21 35467820 35467820 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:35467820C>T ENST00000381151.3 + 2 835 c.323C>T c.(322-324)aCc>aTc p.T108I MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 108 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 GGGGTATATACCATGCCTGAA 0.453000 185 301 0 0 0.003610 0 0 MALL 7851 broad.mit.edu 37 2 110849249 110849249 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:110849249G>A ENST00000272462.2 - 2 977 c.204C>T c.(202-204)ctC>ctT p.L68L MALL_ENST00000427178.1_Intron NM_005434.4 NP_005425.1 Q13021 MALL_HUMAN mal, T-cell differentiation protein-like 68 MARVEL. cholesterol homeostasis clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane protein binding kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 9 Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18) TCAAGGAGATGAGAAACGAGG 0.468000 11 61 0 0 0.001855 0 0 AGBL1 123624 broad.mit.edu 37 15 86687022 86687022 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:86687022G>A ENST00000441037.2 + 2 165 c.70G>A c.(70-72)Gac>Aac p.D24N AGBL1_ENST00000421325.2_Missense_Mutation_p.D24N NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 24 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 AGCTCCTCCAGACTATGACAT 0.542000 17 63 0 0 0.006122 0 0 OPLAH 26873 broad.mit.edu 37 8 145112553 145112553 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:145112553G>A ENST00000426825.1 - 10 1301 c.1220C>T c.(1219-1221)cCc>cTc p.P407L OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 407 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) AAAAATGCAGGGGAAGGAGGC 0.637000 9 16 0 0 0.006214 0 0 CACNA1S 779 broad.mit.edu 37 1 201012516 201012516 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:201012516G>A ENST00000362061.3 - 40 5167 c.4941C>T c.(4939-4941)ttC>ttT p.F1647F CACNA1S_ENST00000367338.3_Silent_p.F1628F NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1647 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GATCTTGTGGGAAGTCCTCCA 0.552000 OREG0014067 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 21 0 0 0.003610 0 0 PLXNB1 5364 broad.mit.edu 37 3 48451759 48451759 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:48451759G>A ENST00000358536.4 - 31 5820 c.5551C>T c.(5551-5553)Ccc>Tcc p.P1851S PLXNB1_ENST00000456774.1_Missense_Mutation_p.P1668S|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1851S|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P1668S|PLXNB1_ENST00000448774.2_Missense_Mutation_p.P462S NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1851 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTGAGGCAGGGGACGAGGGCC 0.637000 5 18 0 0 0.004482 0 0 THSD7B 80731 broad.mit.edu 37 2 138208522 138208522 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:138208522C>T ENST00000409968.1 + 15 3245 c.3067C>T c.(3067-3069)Cga>Tga p.R1023* THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R992*|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R1023* thrombospondin, type I, domain containing 7B p.R1023*(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGTGAGAATTCGATCCAAATG 0.408000 8 22 0 0 0.003080 0 0 IGFN1 91156 broad.mit.edu 37 1 201186446 201186446 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:201186446C>T ENST00000335211.4 + 17 9757 c.9627C>T c.(9625-9627)atC>atT p.I3209I IGFN1_ENST00000295591.8_Silent_p.I369I NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CGCCAGCCATCCTGTCGGCCT 0.662000 19 61 0 0 0.001523 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948542 2948542 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:2948542G>A ENST00000380520.1 - 6 3115 c.1121C>T c.(1120-1122)tCc>tTc p.S374F SERPINB6_ENST00000380524.1_Missense_Mutation_p.S374F|SERPINB6_ENST00000380539.1_Missense_Mutation_p.S374F|SERPINB6_ENST00000380546.3_Missense_Mutation_p.S374F|SERPINB6_ENST00000380529.1_Missense_Mutation_p.S374F|SERPINB6_ENST00000335686.5_Missense_Mutation_p.S374F P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 374 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity p.S374F(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) TCACGGAGAGGAAAAGCGGCC 0.602000 11 60 0 0 0.000978 0 0 PCDH19 57526 broad.mit.edu 37 X 99661775 99661775 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:99661775C>T ENST00000373034.4 - 1 3496 c.1821G>A c.(1819-1821)atG>atA p.M607I PCDH19_ENST00000255531.7_Missense_Mutation_p.M607I|PCDH19_ENST00000420881.2_Missense_Mutation_p.M607I NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 607 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CGCCCTCGGTCATGTCGTAGG 0.552000 26 5 0 0 0.004656 0 0 OR5M1 390168 broad.mit.edu 37 11 56380307 56380307 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:56380307C>T ENST00000526538.1 - 1 671 c.672G>A c.(670-672)gcG>gcA p.A224A NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TCCTGAAGATCGCTGCAAAAA 0.438000 34 26 0 0 0.002222 0 0 FMOD 2331 broad.mit.edu 37 1 203316739 203316739 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:203316739C>T ENST00000354955.4 - 2 1123 c.660G>A c.(658-660)agG>agA p.R220R FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 220 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) ACCGGAGGCCCCTCATGGAAC 0.567000 28 105 0 0 0.005443 0 0 SYNE2 23224 broad.mit.edu 37 14 64692073 64692073 + Missense_Mutation SNP C C T rs144405351 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:64692073C>T ENST00000554584.1 + 115 20299 c.20248C>T c.(20248-20250)Ctc>Ttc p.L6750F SYNE2_ENST00000441438.2_Silent_p.L373L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Silent_p.L612L|SYNE2_ENST00000394768.2_Silent_p.L3214L|SYNE2_ENST00000358025.3_Silent_p.L6851L|SYNE2_ENST00000357395.3_Silent_p.L3214L|SYNE2_ENST00000555002.1_Silent_p.L3485L|SYNE2_ENST00000458046.2_Silent_p.L500L|SYNE2_ENST00000344113.4_Silent_p.L6829L|SYNE2_ENST00000555022.1_Silent_p.L707L Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 0 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GCTCCTTCCTCTCAAGGGTGG 0.637000 13 5 0 0 0.001368 0 0 SCFD1 23256 broad.mit.edu 37 14 31164036 31164036 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:31164036C>T ENST00000458591.2 + 15 1527 c.1300C>T c.(1300-1302)Ctg>Ttg p.L434L SCFD1_ENST00000541123.1_Silent_p.L249L|SCFD1_ENST00000554486.1_3'UTR|SCFD1_ENST00000544052.2_Silent_p.L367L|SCFD1_ENST00000421551.3_Silent_p.L375L|SCFD1_ENST00000396629.2_Silent_p.L342L NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 434 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) CAAAACTACTCTGGATAAATC 0.279000 13 70 0 0 0.002450 0 0 MTHFSD 64779 broad.mit.edu 37 16 86585794 86585794 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:86585794G>A ENST00000381214.5 - 3 246 c.228C>T c.(226-228)ttC>ttT p.F76F MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000543303.2_Silent_p.F75F|MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000360900.6_Intron NM_001159378.1 NP_001152850.1 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain containing 76 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding endometrium(1)|large_intestine(3)|lung(6)|skin(1) 11 CTTCAAGGACGAAGAAGCGAG 0.488000 14 38 0 0 0.001855 0 0 SLC29A4 222962 broad.mit.edu 37 7 5334529 5334529 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:5334529C>T ENST00000396872.2 + 6 744 c.583C>T c.(583-585)Ccc>Tcc p.P195S SLC29A4_ENST00000406453.3_Missense_Mutation_p.P181S|SLC29A4_ENST00000297195.4_Missense_Mutation_p.P195S NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 195 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GGGGATGCTGCCCAAGCGGTA 0.592000 107 121 0 0 0.003610 0 0 PREX1 57580 broad.mit.edu 37 20 47268117 47268117 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:47268117G>A ENST00000396220.1 - 22 2494 c.2472C>T c.(2470-2472)ttC>ttT p.F824F PREX1_ENST00000371941.3_Silent_p.F824F Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 824 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ACAGCAGTgggaaggctggaa 0.612000 33 28 0 0 0.002096 0 0 DSCAM 1826 broad.mit.edu 37 21 41711234 41711234 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:41711234C>T ENST00000400454.1 - 7 1796 c.1319G>A c.(1318-1320)tGg>tAg p.W440* NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 440 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTCCAGGGTCCACGTGATCGT 0.542000 7 32 0 0 0.004482 0 0 FUT9 10690 broad.mit.edu 37 6 96651729 96651729 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:96651729C>T ENST00000302103.5 + 3 1024 c.698C>T c.(697-699)cCt>cTt p.P233L NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 233 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) AATTTGATTCCTACCATATCT 0.353000 11 3 0 0 0.001368 0 0 OR10G4 390264 broad.mit.edu 37 11 123887152 123887152 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:123887152A>T ENST00000320891.4 + 1 871 c.871A>T c.(871-873)Aac>Tac p.N291Y NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CACCCTGAGAAACAAGGAGGT 0.433000 20 14 0 0 0.003330 0 0 ZNF225 7768 broad.mit.edu 37 19 44636451 44636451 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:44636451C>T ENST00000262894.6 + 5 1964 c.1684C>T c.(1684-1686)Cac>Tac p.H562Y ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.H562Y NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) CCAGAGGGTCCACACCGGAGA 0.448000 21 31 0 0 0.001523 0 0 CNTN6 27255 broad.mit.edu 37 3 1367635 1367635 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:1367635G>A ENST00000446702.2 + 9 1710 c.1083_splice c.e9+1 p.E361_splice CNTN6_ENST00000350110.2_Splice_Site_p.E361_splice|CNTN6_ENST00000539053.1_Splice_Site_p.E289_splice Q9UQ52 CNTN6_HUMAN contactin 6 361 Ig-like C2-type 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TCAACCCAGAGGTAAGCAACT 0.363000 9 23 0 0 0.000978 0 0 EPHA6 285220 broad.mit.edu 37 3 97311555 97311555 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:97311555G>A ENST00000389672.5 + 12 2524 c.2486G>A c.(2485-2487)gGa>gAa p.G829E EPHA6_ENST00000514100.1_Missense_Mutation_p.G221E|EPHA6_ENST00000442602.2_Missense_Mutation_p.G195E|EPHA6_ENST00000502694.1_Missense_Mutation_p.G221E NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 734 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CCAGGGGGAGGATCTTTGCCC 0.547000 12 24 0 0 0.001368 0 0 MROH5 389690 broad.mit.edu 37 8 142458068 142458068 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:142458068G>A ENST00000430863.1 - 0 2838 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TCGCTGGGCAGGTTCAGCTCC 0.657000 10 11 0 0 0.001368 0 0 LILRB4 11006 broad.mit.edu 37 19 55177283 55177283 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55177283G>A ENST00000391736.1 + 9 1090 c.775G>A c.(775-777)Gag>Aag p.E259K LILRB4_ENST00000391733.3_Missense_Mutation_p.E259K|LILRB4_ENST00000391734.3_Missense_Mutation_p.E259K|LILRB4_ENST00000270452.2_Missense_Mutation_p.E259K|LILRB4_ENST00000430952.2_Missense_Mutation_p.E259K NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 259 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) AAGGCACTGGGAGGTACTGAT 0.552000 9 3 0 0 0.004482 0 0 SLTM 79811 broad.mit.edu 37 15 59180640 59180640 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:59180640G>A ENST00000380516.2 - 17 2406 c.2319C>T c.(2317-2319)caC>caT p.H773H SLTM_ENST00000536328.1_Silent_p.H342H NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 773 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCCTCTCTCGGTGATCAAAGT 0.403000 22 108 0 0 0.004656 0 0 SMARCC2 6601 broad.mit.edu 37 12 56575616 56575616 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:56575616G>A ENST00000394023.3 - 9 817 c.712C>T c.(712-714)Cat>Tat p.H238Y SMARCC2_ENST00000550164.1_Missense_Mutation_p.H238Y|SMARCC2_ENST00000550859.1_5'UTR|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.H238Y|SMARCC2_ENST00000267064.4_Missense_Mutation_p.H238Y NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 238 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CACTTTGCATGAACCTAAAGT 0.473000 18 29 0 0 0.007413 0 0 GOLT1B 51026 broad.mit.edu 37 12 21654863 21654863 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:21654863C>T ENST00000229314.5 + 1 115 c.6C>T c.(4-6)atC>atT p.I2I GOLT1B_ENST00000542038.1_5'UTR|GOLT1B_ENST00000540141.1_Silent_p.I2I|GOLT1B_ENST00000535593.1_3'UTR NM_016072.4 NP_057156.1 Q9Y3E0 GOT1B_HUMAN golgi transport 1B 2 positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport endoplasmic reticulum|Golgi membrane|integral to membrane signal transducer activity large_intestine(2)|lung(3) 5 CAGCCATGATCTCCTTAACGG 0.677000 22 3 0 0 0.003330 0 0 ANO3 63982 broad.mit.edu 37 11 26463526 26463526 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:26463526C>T ENST00000256737.3 + 2 960 c.108C>T c.(106-108)tcC>tcT p.S36S ANO3_ENST00000525139.1_Silent_p.S20S|ANO3_ENST00000537978.1_Silent_p.S20S|ANO3_ENST00000531646.1_Silent_p.S36S NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 36 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 CTCGGAGATCCCTGCCTTGCC 0.438000 86 24 0 0 0.003610 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31967359 31967359 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:31967359G>A ENST00000357886.4 - 9 1210 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R339C|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R339C|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R249C Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 353 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity p.R339C(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 TGAGCAAAACGAAGTCCTCCT 0.483000 46 34 0 0 0.002852 0 0 ETNPPL 64850 broad.mit.edu 37 4 109675807 109675807 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:109675807C>T ENST00000296486.3 - 5 624 c.470G>A c.(469-471)gGa>gAa p.G157E ETNPPL_ENST00000512646.1_Missense_Mutation_p.G99E|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G117E|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G151E NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase GACATCTTTTCCTTTCTGAAA 0.323000 19 11 0 0 0.001882 0 0 OR2M7 391196 broad.mit.edu 37 1 248487180 248487180 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248487180C>T ENST00000317965.2 - 1 719 c.691G>A c.(691-693)Gga>Aga p.G231R NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGTCCCTCTCCAGATCCCATG 0.448000 60 241 0 0 0.003610 0 0 TDRKH 11022 broad.mit.edu 37 1 151751458 151751458 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:151751458C>T ENST00000368822.1 - 6 1219 c.586G>A c.(586-588)Gaa>Aaa p.E196K TDRKH_ENST00000368823.1_Missense_Mutation_p.E192K|TDRKH_ENST00000458431.2_Missense_Mutation_p.E196K|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Missense_Mutation_p.E151K|TDRKH_ENST00000368827.6_Missense_Mutation_p.E196K|TDRKH_ENST00000368824.3_Missense_Mutation_p.E196K Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 196 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCTTCATCTTCTGAAACTTTC 0.428000 62 21 0 0 0.003610 0 0 DHX29 54505 broad.mit.edu 37 5 54569141 54569141 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:54569141G>T ENST00000251636.5 - 17 2903 c.2755C>A c.(2755-2757)Ccc>Acc p.P919T RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 919 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) CCTGGAGGGGGAAGTGTGAAT 0.363000 36 15 6.04917e-29 9.8779e-29 0.006999 1 0 PHLDA1 22822 broad.mit.edu 37 12 76424916 76424916 + Silent SNP T T C rs71714726 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:76424916T>C ENST00000266671.5 - 1 2796 c.606A>G c.(604-606)caA>caG p.Q202Q RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Silent_p.Q61Q Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, member 1 202 PH.|Poly-Gln. apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) CGGgctgttgttgctgctgct 0.647000 22 45 0 0 0.001523 0 0 TTN 7273 broad.mit.edu 37 2 179469558 179469558 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179469558C>T ENST00000589042.1 - 281 54482 c.54258G>A c.(54256-54258)tgG>tgA p.W18086* TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W9021*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W9213*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W16445*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W9146*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W15518*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16445 Fibronectin type-III 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGGGGCATCCCATGTCAAGT 0.438000 21 27 0 0 0.001523 0 0 ITGA9 3680 broad.mit.edu 37 3 37555332 37555332 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:37555332C>T ENST00000264741.5 + 9 1232 c.976C>T c.(976-978)Ccc>Tcc p.P326S ITGA9_ENST00000422441.1_Missense_Mutation_p.P326S NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 326 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) GGTGGGGGCCCCCATGTTTTC 0.547000 17 58 0 0 0.004990 0 0 LIN7B 64130 broad.mit.edu 37 19 49621263 49621263 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:49621263A>G ENST00000221459.2 + 5 634 c.590A>G c.(589-591)cAt>cGt p.H197R LIN7B_ENST00000391864.3_Missense_Mutation_p.H127R NM_022165.2 NP_071448.1 Q9HAP6 LIN7B_HUMAN lin-7 homolog B (C. elegans) 197 exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein domain specific binding central_nervous_system(1)|endometrium(1)|prostate(1) 3 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01) CGCCAACAGCATCAGAGCTAC 0.647000 11 56 0 0 0.001368 0 0 FGFR3 2261 broad.mit.edu 37 4 1803418 1803418 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:1803418C>T ENST00000340107.4 + 6 943 c.687C>T c.(685-687)gtC>gtT p.V229V FGFR3_ENST00000481110.2_Silent_p.V229V|FGFR3_ENST00000352904.1_Silent_p.V229V|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Silent_p.V229V|FGFR3_ENST00000440486.2_Silent_p.V229V|FGFR3_ENST00000412135.2_Silent_p.V229V NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 229 Ig-like C2-type 2. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACACCTGCGTCGTGGAGAACA 0.697000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 7 16 0 0 0.003080 0 0 APOB 338 broad.mit.edu 37 2 21227961 21227961 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:21227961C>T ENST00000233242.1 - 26 11906 c.11779G>A c.(11779-11781)Gaa>Aaa p.E3927K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3927 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCATTTAGTTCATATTCTAGG 0.358000 92 245 0 0 0.003610 0 0 HAS1 3036 broad.mit.edu 37 19 52222579 52222579 + Silent SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:52222579C>G ENST00000540069.2 - 2 639 c.579G>C c.(577-579)ctG>ctC p.L193L HAS1_ENST00000601714.1_Silent_p.L201L|HAS1_ENST00000594621.1_Silent_p.L48L|HAS1_ENST00000222115.1_Silent_p.L194L Q92839 HAS1_HUMAN hyaluronan synthase 1 194 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CCTCCACTGCCAGCCGCCCAG 0.721000 4 11 0 0 0.000248 0 0 B3GNT4 79369 broad.mit.edu 37 12 122691861 122691861 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:122691861G>A ENST00000535274.1 + 1 2715 c.988G>A c.(988-990)Gag>Aag p.E330K B3GNT4_ENST00000324189.4_Missense_Mutation_p.E355K|B3GNT4_ENST00000546192.1_Missense_Mutation_p.E330K|B3GNT4_ENST00000545141.1_Intron Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 355 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) CAGCCCCCTCGAGATGTGGAC 0.627000 10 13 0 0 0.000978 0 0 SLC28A1 9154 broad.mit.edu 37 15 85478590 85478590 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:85478590G>A ENST00000394573.1 + 15 1624 c.1422G>A c.(1420-1422)ttG>ttA p.L474L SLC28A1_ENST00000537216.1_Silent_p.L474L|SLC28A1_ENST00000286749.3_Silent_p.L474L|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Silent_p.L474L NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 474 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TAGCCTTCTTGATGGGTGTGG 0.592000 25 40 0 0 0.003954 0 0 PBXIP1 57326 broad.mit.edu 37 1 154920149 154920149 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:154920149G>A ENST00000368463.3 - 8 778 c.707C>T c.(706-708)cCc>cTc p.P236L PBXIP1_ENST00000368460.3_Missense_Mutation_p.P205L|PBXIP1_ENST00000542459.1_Missense_Mutation_p.P81L|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Missense_Mutation_p.P63L|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P207L NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 236 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CAGCACCTCGGGGTCTGGGAG 0.632000 18 77 0 0 0.002299 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553440 140553440 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140553440G>A ENST00000231137.3 + 1 1198 c.1024G>A c.(1024-1026)Gat>Aat p.D342N NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 342 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGATATAAACGATAATCGACC 0.448000 8 37 0 0 0.003080 0 0 KRT76 51350 broad.mit.edu 37 12 53170524 53170524 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:53170524C>T ENST00000332411.2 - 1 605 c.552G>A c.(550-552)cgG>cgA p.R184R NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 184 Coil 1A.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGATCTGTTCCCGCTCCTGGG 0.562000 17 129 0 0 0.001882 0 0 BAI3 577 broad.mit.edu 37 6 69349304 69349304 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:69349304C>T ENST00000370598.1 + 3 1558 c.737C>T c.(736-738)gCc>gTc p.A246V NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 246 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ACCAGGGAGGCCAAGCGACCA 0.522000 5 8 0 0 0.001168 0 0 LTK 4058 broad.mit.edu 37 15 41803693 41803693 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:41803693C>T ENST00000263800.6 - 6 837 c.741G>A c.(739-741)cgG>cgA p.R247R LTK_ENST00000453182.2_Silent_p.R247R|LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Silent_p.R247R NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 247 apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) AGGCCTGAGTCCGGCCTCGGT 0.786000 TSP Lung(18;0.14) 3 6 0 0 0.000248 0 0 DNAH9 1770 broad.mit.edu 37 17 11597185 11597185 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:11597185G>A ENST00000262442.3 + 21 4683 c.4614_splice c.e21-1 p.D1539_splice DNAH9_ENST00000454412.2_Splice_Site_p.D1539_splice NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1539 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTATTTGCAGGATTCTAAAAG 0.438000 12 52 0 0 0.001368 0 0 ARRDC5 645432 broad.mit.edu 37 19 4891445 4891445 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:4891445C>T ENST00000381781.2 - 3 641 c.642G>A c.(640-642)caG>caA p.Q214Q NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 214 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) ATTTGCTGGTCTGGTTGTTGA 0.557000 8 33 0 0 0.004482 0 0 NHS 4810 broad.mit.edu 37 X 17744272 17744272 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:17744272C>T ENST00000380060.3 + 6 2321 c.1983C>T c.(1981-1983)ttC>ttT p.F661F NHS_ENST00000398097.3_Silent_p.F505F NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 661 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CCAGTGTTTTCGTGACAGAGC 0.512000 96 11 0 0 0.003610 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679775 160679775 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:160679775C>T ENST00000366953.3 - 1 273 c.15G>A c.(13-15)gtG>gtA p.V5V SLC22A2_ENST00000366952.1_Intron|SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 5 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity p.V5V(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GGACATCGTCCACGGTGGTGG 0.617000 18 1 0 0 0.001216 0 0 DCLK3 85443 broad.mit.edu 37 3 36759553 36759553 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:36759553G>A ENST00000416516.2 - 4 2191 c.1701C>T c.(1699-1701)atC>atT p.I567I NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 567 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GGCCCAGCTGGATGATGTTAA 0.552000 63 64 0 0 0.003610 0 0 TRIM69 140691 broad.mit.edu 37 15 45047124 45047124 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:45047124C>T ENST00000559390.1 + 3 961 c.33C>T c.(31-33)atC>atT p.I11I TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000329464.4_Silent_p.I11I|TRIM69_ENST00000560442.1_Intron Q86WT6 TRI69_HUMAN tripartite motif containing 69 11 Necessary for nuclear localization (By similarity). apoptosis nuclear speck zinc ion binding p.I11I(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) CCTCCAACATCGATCCAGGCG 0.433000 39 67 0 0 0.007835 0 0 TAL1 6886 broad.mit.edu 37 1 47685433 47685433 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:47685433G>A ENST00000371883.3 - 4 1537 c.961C>T c.(961-963)Cct>Tct p.P321S TAL1_ENST00000371884.2_Missense_Mutation_p.P319S|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Missense_Mutation_p.P319S P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 319 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 AGCATGGCAGGATGGAGGCTG 0.697000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 12 29 0 0 0.003163 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693226 187693226 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:187693226C>T ENST00000295131.2 - 9 1426 c.1387G>A c.(1387-1389)Gaa>Aaa p.E463K NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 463 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GTTGTATTTTCATAGGCATCT 0.284000 9 24 0 0 0.000978 0 0 LRTM1 57408 broad.mit.edu 37 3 54958748 54958748 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:54958748A>T ENST00000273286.5 - 2 664 c.502T>A c.(502-504)Tcc>Acc p.S168T CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.S92T|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 168 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) CTGGGCATGGATTCCAGGAGC 0.478000 18 53 0 0 0.001216 0 0 CARF 79800 broad.mit.edu 37 2 203817287 203817287 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:203817287C>T ENST00000320443.8 + 5 1355 c.312C>T c.(310-312)atC>atT p.I104I CARF_ENST00000471271.1_3'UTR|CARF_ENST00000456821.2_Silent_p.I92I|WDR12_ENST00000477723.1_Intron|CARF_ENST00000434998.1_Silent_p.I2I|CARF_ENST00000444724.1_Silent_p.I104I|CARF_ENST00000545253.1_Silent_p.I16I|CARF_ENST00000545262.1_Silent_p.I28I|CARF_ENST00000438828.2_Silent_p.I104I|CARF_ENST00000402905.2_Silent_p.I104I|CARF_ENST00000414439.1_Silent_p.I2I|CARF_ENST00000428585.1_Silent_p.I28I calcium responsive transcription factor CCAAGATGATCGTTGCCAGCC 0.358000 59 109 0 0 0.003610 0 0 MMP16 4325 broad.mit.edu 37 8 89198734 89198734 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:89198734C>T ENST00000286614.6 - 3 656 c.375G>A c.(373-375)caG>caA p.Q125Q MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 125 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 GCTGCCATTTCTGTCCTGTCA 0.423000 64 123 0 0 0.003610 0 0 NACA 4666 broad.mit.edu 37 12 57114463 57114463 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57114463G>A ENST00000454682.1 - 3 1132 c.851C>T c.(850-852)cCt>cTt p.P284L NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P284L|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGTCACCACAGGAAGAGACTG 0.493000 T BCL6 NHL 15 180 0 0 0.004007 0 0 ZNF483 158399 broad.mit.edu 37 9 114304365 114304365 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:114304365C>T ENST00000309235.5 + 6 1308 c.1150C>T c.(1150-1152)Cat>Tat p.H384Y ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 384 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 TCAGAAGATTCATTTGGGGGA 0.423000 28 51 0 0 0.001512 0 0 CAD 790 broad.mit.edu 37 2 27461301 27461301 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:27461301C>T ENST00000264705.4 + 31 5025 c.4863C>T c.(4861-4863)atC>atT p.I1621I CAD_ENST00000403525.1_Silent_p.I1558I NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1621 DHOase (dihydroorotase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TTCCCCAGATCCTGCTAATTA 0.552000 20 53 0 0 0.001216 0 0 RXFP1 59350 broad.mit.edu 37 4 159529156 159529156 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:159529156C>T ENST00000307765.5 + 6 748 c.497C>T c.(496-498)tCc>tTc p.S166F RXFP1_ENST00000460056.2_Missense_Mutation_p.S85F|RXFP1_ENST00000470033.1_Missense_Mutation_p.S133F|RXFP1_ENST00000343542.5_Missense_Mutation_p.S166F|RXFP1_ENST00000423548.1_Missense_Mutation_p.S166F|RXFP1_ENST00000448688.2_Missense_Mutation_p.S85F NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 166 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) ACATCCATCTCCATCTATGCT 0.348000 13 59 0 0 0.003163 0 0 TUBB1 81027 broad.mit.edu 37 20 57599608 57599608 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:57599608G>A ENST00000217133.1 + 4 1395 c.1126G>A c.(1126-1128)Gag>Aag p.E376K NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 376 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) GGCCATCCAAGAGATCTTTAA 0.527000 27 24 0 0 0.004656 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43668773 43668773 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:43668773G>A ENST00000564079.1 + 3 520 c.280G>A c.(280-282)Gat>Aat p.D94N TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000399460.3_5'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.D94N NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 94 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) CACAGGGCTGGATTCTGTTTT 0.483000 OREG0023088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 37 0 0 0.006122 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 4 132 0 0 0.000248 0 0 OR51A7 119687 broad.mit.edu 37 11 4928765 4928765 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:4928765C>T ENST00000359350.4 + 1 166 c.166C>T c.(166-168)Cat>Tat p.H56Y MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCCTCGCTTCATGAGCCCAT 0.493000 57 14 0 0 0.003610 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959902 157959902 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:157959902G>A ENST00000389413.3 - 6 734 c.631C>T c.(631-633)Cag>Tag p.Q211* PTPRN2_ENST00000409483.1_Nonsense_Mutation_p.Q173*|PTPRN2_ENST00000404321.2_Nonsense_Mutation_p.Q234*|PTPRN2_ENST00000389416.4_Nonsense_Mutation_p.Q194*|PTPRN2_ENST00000389418.4_Nonsense_Mutation_p.Q211* NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 211 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TCGCGGAGCTGGGTCCGGGAC 0.637000 28 58 0 0 0.001512 0 0 APOBEC1 339 broad.mit.edu 37 12 7805127 7805127 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:7805127C>T ENST00000229304.4 - 3 369 c.349G>A c.(349-351)Gct>Act p.A117T NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 117 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 AAAAGCCGAGCTACGTAGATC 0.478000 12 48 0 0 0.002450 0 0 ZNF536 9745 broad.mit.edu 37 19 31039452 31039452 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:31039452C>T ENST00000355537.3 + 4 3073 c.2926C>T c.(2926-2928)Ctg>Ttg p.L976L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 976 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GTATGAACCCCTGGACTTGTC 0.577000 53 63 0 0 0.003610 0 0 PRG2 5553 broad.mit.edu 37 11 57155261 57155261 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:57155261G>A ENST00000311862.5 - 5 649 c.576C>T c.(574-576)tcC>tcT p.S192S PRG2_ENST00000533605.1_Silent_p.S181S|PRG2_ENST00000525955.1_Silent_p.S192S NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACCACCGCGGGACCAGGGCT 0.617000 3 10 0 0 0.000248 0 0 EP400 57634 broad.mit.edu 37 12 132474600 132474600 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:132474600C>A ENST00000333577.4 + 9 2718 c.2609C>A c.(2608-2610)gCc>gAc p.A870D EP400_ENST00000389561.2_Missense_Mutation_p.A834D|EP400_ENST00000332482.4_Missense_Mutation_p.A797D|EP400_ENST00000389562.2_Missense_Mutation_p.A833D|EP400_ENST00000330386.6_Missense_Mutation_p.A834D Q96L91 EP400_HUMAN E1A binding protein p400 870 HSA. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGGCGGATAGCCGCCTCCACG 0.562000 26 47 8.24728e-16 1.34278e-15 0.004656 1 0 SH3RF1 57630 broad.mit.edu 37 4 170017731 170017731 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:170017731C>T ENST00000284637.9 - 12 2947 c.2606G>A c.(2605-2607)gGc>gAc p.G869D NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 869 SH3 4. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TTGTAATGTGCCTTTGAACCA 0.418000 55 36 0 0 0.003610 0 0 MYO5B 4645 broad.mit.edu 37 18 47566544 47566544 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:47566544G>A ENST00000285039.7 - 3 578 c.279C>T c.(277-279)ttC>ttT p.F93F NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 93 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TGGACTCCAGGAAACGGACCT 0.468000 77 64 0 0 0.003610 0 0 UNC13A 23025 broad.mit.edu 37 19 17759754 17759754 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:17759754G>A ENST00000428389.2 - 16 1826 c.1827C>T c.(1825-1827)gcC>gcT p.A609A UNC13A_ENST00000519716.2_Silent_p.A521A|UNC13A_ENST00000552293.1_Silent_p.A521A|UNC13A_ENST00000551649.1_Silent_p.A521A|UNC13A_ENST00000550896.1_Silent_p.A519A|UNC13A_ENST00000252773.7_Silent_p.A521A Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 521 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TGGAGGCCAAGGCCGAGGTGA 0.607000 4 4 0 0 0.001168 0 0 SEMG1 6406 broad.mit.edu 37 20 43836048 43836048 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:43836048C>T ENST00000372781.3 + 2 167 c.110C>T c.(109-111)tCc>tTc p.S37F SEMG1_ENST00000244069.6_Missense_Mutation_p.S37F NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) AGTGAATTTTCCCAATTTCCA 0.403000 87 99 0 0 0.003610 0 0 HS3ST3A1 9955 broad.mit.edu 37 17 13400099 13400099 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:13400099G>A ENST00000284110.1 - 2 1433 c.636C>T c.(634-636)acC>acT p.T212T HS3ST3A1_ENST00000578576.1_Silent_p.T10T NM_006042.1 NP_006033.1 Q9Y663 HS3SA_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 212 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCTTCTCCATGGTGATCTGCC 0.612000 7 57 0 0 0.001984 0 0 SLC6A4 6532 broad.mit.edu 37 17 28545857 28545857 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:28545857C>T ENST00000401766.2 - 3 948 c.436G>A c.(436-438)Gga>Aga p.G146R SLC6A4_ENST00000261707.3_Missense_Mutation_p.G146R P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 146 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GAAATGCATCCATTTCGGTGG 0.522000 75 52 0 0 0.003610 0 0 FMO3 2328 broad.mit.edu 37 1 171079971 171079971 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:171079971G>A ENST00000367755.4 + 6 771 c.660G>A c.(658-660)gtG>gtA p.V220V FMO3_ENST00000392085.2_Silent_p.V220V|FMO3_ENST00000538429.1_Silent_p.V157V|FMO3_ENST00000542847.1_Silent_p.V200V NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 220 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTCCTGGGTGATGAGCCGGG 0.468000 42 114 0 0 0.003610 0 0 USP40 55230 broad.mit.edu 37 2 234402155 234402155 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:234402155G>A ENST00000251722.6 - 25 2947 c.2830C>T c.(2830-2832)Ccc>Tcc p.P944S USP40_ENST00000450966.1_Missense_Mutation_p.P956S|USP40_ENST00000427112.2_Missense_Mutation_p.P944S|USP40_ENST00000409945.1_Missense_Mutation_p.P120S Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 944 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TGTCCTGAGGGACCCTGAAGC 0.498000 6 17 0 0 0.001168 0 0 DNTT 1791 broad.mit.edu 37 10 98092340 98092340 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:98092340G>A ENST00000419175.1 + 9 1516 c.1346G>A c.(1345-1347)tGg>tAg p.W449* DNTT_ENST00000371174.2_Nonsense_Mutation_p.W449* NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 449 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) CTGTTGGGATGGACTGGCTCC 0.577000 47 87 0 0 0.003610 0 0 GPSM1 26086 broad.mit.edu 37 9 139250996 139250996 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:139250996G>A ENST00000440944.1 + 13 2035 c.1815G>A c.(1813-1815)aaG>aaA p.K605K GPSM1_ENST00000392944.1_Silent_p.K96K|GPSM1_ENST00000429455.1_Silent_p.K96K NM_001145638.1 NP_001139110.1 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 605 GoLoco 3. cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) TGCTCATCAAGTACCAGGTGG 0.682000 5 13 0 0 0.001168 0 0 RGS6 9628 broad.mit.edu 37 14 72985102 72985102 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:72985102G>A ENST00000553530.1 + 15 1342 c.1135G>A c.(1135-1137)Gat>Aat p.D379N RGS6_ENST00000407322.4_Missense_Mutation_p.D379N|RGS6_ENST00000404301.2_Missense_Mutation_p.D379N|RGS6_ENST00000402788.2_Missense_Mutation_p.D379N|RGS6_ENST00000556437.1_Missense_Mutation_p.D379N|RGS6_ENST00000434263.2_Missense_Mutation_p.D310N|RGS6_ENST00000555571.1_Missense_Mutation_p.D379N|RGS6_ENST00000355512.6_Missense_Mutation_p.D379N|RGS6_ENST00000553525.1_Missense_Mutation_p.D379N|RGS6_ENST00000343854.6_Missense_Mutation_p.D342N|RGS6_ENST00000406236.4_Missense_Mutation_p.D379N|RGS6_ENST00000554782.1_Missense_Mutation_p.D240N NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 379 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) ACCCCTACAGGATGTGGCCAA 0.517000 27 12 0 0 0.005443 0 0 DSCR10 259234 broad.mit.edu 37 21 39580310 39580310 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:39580310G>A ENST00000432141.1 + 0 432 NR_027695.1 TGTGTGCCCTGATGTGGACCT 0.572000 24 64 0 0 0.003330 0 0 MYO18B 84700 broad.mit.edu 37 22 26423113 26423113 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:26423113G>A ENST00000335473.7 + 43 7423 c.7173G>A c.(7171-7173)gtG>gtA p.V2391V MYO18B_ENST00000536101.1_Silent_p.V2391V|MYO18B_ENST00000407587.2_Silent_p.V2392V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2391 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGTCCTCTGTGGACGATGCGG 0.597000 67 28 0 0 0.003610 0 0 DENND3 22898 broad.mit.edu 37 8 142190863 142190863 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:142190863G>A ENST00000519811.1 + 17 2924 c.2854G>A c.(2854-2856)Gag>Aag p.E952K DENND3_ENST00000424248.1_Missense_Mutation_p.E820K|DENND3_ENST00000262585.2_Missense_Mutation_p.E872K|DENND3_ENST00000518806.1_3'UTR A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 872 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GACGCTTCCGGAGACAACCCT 0.562000 22 37 0 0 0.003330 0 0 CCDC67 159989 broad.mit.edu 37 11 93122228 93122228 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:93122228G>A ENST00000298050.3 + 9 1078 c.978G>A c.(976-978)agG>agA p.R326R CCDC67_ENST00000525646.1_Silent_p.R68R NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 326 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AACCAGAAAGGAAAATAAAAG 0.284000 6 11 0 0 0.001984 0 0 THRAP3 9967 broad.mit.edu 37 1 36752763 36752763 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:36752763C>T ENST00000354618.5 + 4 1156 c.932C>T c.(931-933)cCa>cTa p.P311L THRAP3_ENST00000469141.2_Missense_Mutation_p.P311L NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 311 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCCCTGAGTCCATCCAAAAAG 0.562000 T USP6 aneurysmal bone cysts 15 22 0 0 0.002450 0 0 CTNND2 1501 broad.mit.edu 37 5 11732344 11732344 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:11732344C>T ENST00000304623.8 - 2 267 c.78G>A c.(76-78)gaG>gaA p.E26E CTNND2_ENST00000359640.2_Silent_p.E26E|CTNND2_ENST00000458100.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 26 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 AACTCGTCTTCTCTGAGGCTG 0.507000 17 77 0 0 0.007413 0 0 RYR3 6263 broad.mit.edu 37 15 34102837 34102837 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:34102837C>T ENST00000389232.4 + 71 10254 c.10184C>T c.(10183-10185)tCg>tTg p.S3395L RYR3_ENST00000415757.3_Missense_Mutation_p.S3390L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3395 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTCGCAAAATCGCGATACAGC 0.542000 12 29 0 0 0.003163 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471912 47471912 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:47471912G>A ENST00000266581.4 - 2 1340 c.874C>T c.(874-876)Cgt>Tgt p.R292C AMIGO2_ENST00000321382.3_Missense_Mutation_p.R292C|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R292C|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R292C NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 292 Ig-like C2-type. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) CCAAGCGCACGAAAGGAACCA 0.512000 79 51 0 0 0.003610 0 0 PKP2 5318 broad.mit.edu 37 12 32993972 32993972 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:32993972C>T ENST00000340811.4 - 6 1654 c.1546G>A c.(1546-1548)Gga>Aga p.G516R PKP2_ENST00000070846.6_Missense_Mutation_p.G560R NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 560 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CTTAGGCATCCAGTGACGTTG 0.443000 43 108 0 0 0.003610 0 0 CAPN3 825 broad.mit.edu 37 15 42684884 42684884 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:42684884C>T ENST00000397163.3 + 7 1212 c.993C>T c.(991-993)gtC>gtT p.V331V CAPN3_ENST00000318023.7_Silent_p.V331V|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.V331V|CAPN3_ENST00000356316.3_Silent_p.V244V|CAPN3_ENST00000349748.3_Silent_p.V283V NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 331 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) GCGGGCTGGTCAGAGGTCACG 0.572000 8 19 0 0 0.004482 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802839 185802839 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:185802839G>A ENST00000302277.6 + 4 3310 c.2716G>A c.(2716-2718)Gaa>Aaa p.E906K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 906 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CACTTCTGGTGAATTGTCAGA 0.408000 13 27 0 0 0.001855 0 0 RYR2 6262 broad.mit.edu 37 1 237796890 237796890 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:237796890C>T ENST00000366574.2 + 43 6885 c.6568C>T c.(6568-6570)Ccc>Tcc p.P2190S RYR2_ENST00000360064.6_Missense_Mutation_p.P2188S|RYR2_ENST00000542537.1_Missense_Mutation_p.P2174S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2190 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AATCACCTTTCCCAAGATGGT 0.388000 68 216 0 0 0.003610 0 0 LRP1 4035 broad.mit.edu 37 12 57589078 57589078 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57589078C>T ENST00000243077.3 + 52 8799 c.8333C>T c.(8332-8334)tCc>tTc p.S2778F NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2778 LDL-receptor class A 17. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGCCCCTCCTCCTTCTCCTGC 0.622000 44 294 0 0 0.002522 0 0 FTSJ1 24140 broad.mit.edu 37 X 48336904 48336904 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:48336904C>T ENST00000019019.2 + 4 618 c.189C>T c.(187-189)atC>atT p.I63I FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000348411.2_Silent_p.I63I|FTSJ1_ENST00000456787.1_Silent_p.I63I NM_177439.1 NP_803188.1 Q9UET6 RRMJ1_HUMAN FtsJ RNA methyltransferase homolog 1 (E. coli) 63 RNA methylation|rRNA processing methyltransferase activity|nucleic acid binding breast(1)|central_nervous_system(1)|lung(4)|skin(1) 7 GCCAGAAGATCGGGTAAGTGT 0.632000 15 1 0 0 0.006122 0 0 BCL9L 283149 broad.mit.edu 37 11 118769744 118769744 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:118769744G>A ENST00000334801.3 - 8 4844 c.3880C>T c.(3880-3882)Cca>Tca p.P1294S BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1294 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) ACACCCGGTGGGTATGCGTCG 0.687000 7 2 0 0 0.003080 0 0 TRPM2 7226 broad.mit.edu 37 21 45860727 45860727 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45860727C>T ENST00000397928.1 + 31 4770 c.4325C>T c.(4324-4326)aCg>aTg p.T1442M TRPM2_ENST00000397932.2_Missense_Mutation_p.T1492M|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1442M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1388M NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1442 Nudix hydrolase. integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TGGATCGAGACGGTGGCCGTC 0.617000 42 52 0 0 0.003610 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370833 35370833 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:35370833C>T ENST00000373347.1 - 3 420 c.152G>A c.(151-153)aGa>aAa p.R51K DLGAP3_ENST00000495979.1_5'UTR|DLGAP3_ENST00000235180.4_Missense_Mutation_p.R51K O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 51 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CAGGCCAGCTCTCGGGGCACA 0.701000 5 8 0 0 0.001168 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058665 79058665 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:79058665G>A ENST00000388820.4 - 19 3798 c.3588C>T c.(3586-3588)ttC>ttT p.F1196F NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1196 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 TGCCAACTGGGAAATCATTTT 0.612000 8 34 0 0 0.003080 0 0 FRS2 10818 broad.mit.edu 37 12 69965190 69965190 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:69965190C>T ENST00000299293.2 + 8 898 c.388C>T c.(388-390)Cct>Tct p.P130S FRS2_ENST00000550389.1_Missense_Mutation_p.P130S|FRS2_ENST00000397997.2_Missense_Mutation_p.P130S|FRS2_ENST00000549921.1_Missense_Mutation_p.P130S NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 130 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) ATTGGAAGTCCCTAGAACACC 0.343000 OREG0021986 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 145 0 0 0.003080 0 0 ZNF235 9310 broad.mit.edu 37 19 44791712 44791712 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:44791712G>A ENST00000291182.4 - 5 1978 c.1876C>T c.(1876-1878)Cca>Tca p.P626S ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) CATTTATATGGTTTCTCTCCG 0.458000 43 83 0 0 0.002522 0 0 FBN1 2200 broad.mit.edu 37 15 48704769 48704769 + Silent SNP G G A rs150065311 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:48704769G>A ENST00000316623.5 - 65 8678 c.8223C>T c.(8221-8223)atC>atT p.I2741I FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2741 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GACCCACCTCGATATTGGAGG 0.493000 67 53 0 0 0.003610 0 0 LEPREL4 10609 broad.mit.edu 37 17 39966001 39966001 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:39966001G>A ENST00000355468.3 - 5 1339 c.873C>T c.(871-873)ttC>ttT p.F291F LEPREL4_ENST00000393928.1_Silent_p.F291F Q92791 SC65_HUMAN leprecan-like 4 291 synaptonemal complex assembly nucleolus|synaptonemal complex binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 TGGTGGCCACGAACTTGTCCA 0.577000 45 40 0 0 0.003214 0 0 RP1 6101 broad.mit.edu 37 8 55538600 55538600 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:55538600C>T ENST00000220676.1 + 4 2306 c.2158C>T c.(2158-2160)Ccc>Tcc p.P720S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 720 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTCAGATAGTCCCCTTAAAGG 0.348000 11 10 0 0 0.000673 0 0 BBS7 55212 broad.mit.edu 37 4 122756341 122756341 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:122756341G>A ENST00000264499.4 - 14 1652 c.1469C>T c.(1468-1470)cCt>cTt p.P490L BBS7_ENST00000506636.1_Missense_Mutation_p.P490L NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 490 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 GAGTGAAAGAGGTTTGATGTG 0.408000 Bardet-Biedl syndrome 17 20 0 0 0.001523 0 0 QRICH1 54870 broad.mit.edu 37 3 49114439 49114439 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:49114439G>A ENST00000395443.2 - 2 484 c.12C>T c.(10-12)tcC>tcT p.S4S QRICH1_ENST00000424300.1_Silent_p.S4S|QRICH1_ENST00000357496.2_Silent_p.S4S NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 4 CARD. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TGTTCTCTAGGGAATTATTCA 0.428000 21 87 0 0 0.001882 0 0 ACTN2 88 broad.mit.edu 37 1 236881274 236881274 + Splice_Site SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:236881274T>C ENST00000366578.4 + 2 407 c.e2+2 ACTN2_ENST00000492634.1_Splice_Site|ACTN2_ENST00000542672.1_Splice_Site NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TCATCTCAGGTTGGTGTTATA 0.448000 21 11 0 0 0.001216 0 0 POF1B 79983 broad.mit.edu 37 X 84559434 84559434 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:84559434C>T ENST00000262753.4 - 14 1626 c.1481G>A c.(1480-1482)gGa>gAa p.G494E POF1B_ENST00000373145.3_Missense_Mutation_p.G494E NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 494 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 ACTACAACTTCCTTCTCTCTT 0.338000 20 1 0 0 0.001216 0 0 GPR125 166647 broad.mit.edu 37 4 22414874 22414874 + Silent SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:22414874A>G ENST00000334304.5 - 14 2432 c.2163T>C c.(2161-2163)caT>caC p.H721H GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 721 GPS. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) AATAGAGTATATGGCACCCAT 0.438000 35 71 0 0 0.004289 0 0 TXK 7294 broad.mit.edu 37 4 48081967 48081967 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:48081967C>T ENST00000264316.4 - 11 1220 c.1135G>A c.(1135-1137)Gaa>Aaa p.E379K TXK_ENST00000507351.1_Missense_Mutation_p.E34K NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 379 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 TCCAGATATTCCATTCCTTCA 0.373000 35 57 0 0 0.006999 0 0 FAT2 2196 broad.mit.edu 37 5 150901331 150901331 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:150901331G>T ENST00000261800.5 - 18 10835 c.10823C>A c.(10822-10824)aCc>aAc p.T3608N NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3608 Cadherin 32. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGTGGTGAAGGTCCCATCGCT 0.632000 10 31 1.58986e-06 2.56658e-06 0.000673 1 0 PCDHB14 56122 broad.mit.edu 37 5 140604586 140604586 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140604586G>A ENST00000239449.4 + 1 1509 c.1509G>A c.(1507-1509)ttG>ttA p.L503L PCDHB14_ENST00000515856.2_Silent_p.L350L NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 503 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGCCTCCTTGGTCTCCATCA 0.657000 22 159 0 0 0.004656 0 0 ADAM29 11086 broad.mit.edu 37 4 175898965 175898965 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:175898965G>A ENST00000359240.3 + 5 2959 c.2289G>A c.(2287-2289)gtG>gtA p.V763V ADAM29_ENST00000445694.1_Silent_p.V763V|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Silent_p.V763V|ADAM29_ENST00000404450.4_Silent_p.V763V NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 763 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AACCTCCTGTGACACCCTCCC 0.567000 79 57 0 0 0.003610 0 0 OR8I2 120586 broad.mit.edu 37 11 55860905 55860905 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:55860905G>A ENST00000302124.2 + 1 153 c.122G>A c.(121-123)gGa>gAa p.G41E OR8I2_ENST00000560768.1_Missense_Mutation_p.G41E Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) ACTGTTTTGGGAAACCTGGGA 0.383000 102 71 0 0 0.003610 0 0 HIVEP3 59269 broad.mit.edu 37 1 42045623 42045623 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:42045623G>A ENST00000372584.1 - 3 5860 c.4846C>T c.(4846-4848)Cac>Tac p.H1616Y HIVEP3_ENST00000247584.5_Missense_Mutation_p.H1616Y|HIVEP3_ENST00000429157.2_Missense_Mutation_p.H1616Y|HIVEP3_ENST00000372583.1_Missense_Mutation_p.H1616Y NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1616 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGCTGGATGTGATTTGGCTTA 0.473000 36 50 0 0 0.004878 0 0 POTEG 404785 broad.mit.edu 37 14 19553545 19553545 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:19553545G>A ENST00000409832.3 + 1 181 c.129G>A c.(127-129)gtG>gtA p.V43V NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 43 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AGAGCAACGTGGGCACTTCTG 0.602000 24 470 0 0 0.003271 0 0 TTN 7273 broad.mit.edu 37 2 179452781 179452781 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179452781C>T ENST00000589042.1 - 305 63577 c.63353G>A c.(63352-63354)cGg>cAg p.R21118Q TTN_ENST00000460472.2_Missense_Mutation_p.R12053Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12245Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19477Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12178Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18550Q|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19477 Fibronectin type-III 53. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCATTACACCGTTTCCAGCC 0.463000 13 28 0 0 0.001855 0 0 KBTBD2 25948 broad.mit.edu 37 7 32909261 32909261 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:32909261G>A ENST00000304056.4 - 4 2267 c.1568C>T c.(1567-1569)cCc>cTc p.P523L AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 523 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) TCTAACACAGGGGTCAGAGTA 0.423000 98 60 0 0 0.003610 0 0 RP1 6101 broad.mit.edu 37 8 55540222 55540222 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:55540222G>A ENST00000220676.1 + 4 3928 c.3780G>A c.(3778-3780)gaG>gaA p.E1260E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1260 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTCCATGTGAGATGTGCACTG 0.443000 57 43 0 0 0.003610 0 0 FAM47B 170062 broad.mit.edu 37 X 34961077 34961077 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:34961077G>A ENST00000329357.5 + 1 165 c.129G>A c.(127-129)gtG>gtA p.V43V NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 43 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TCCCGCCTGTGGACACCCAGA 0.572000 20 3 0 0 0.002299 0 0 SCN1A 6323 broad.mit.edu 37 2 166866246 166866246 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:166866246G>A ENST00000423058.2 - 20 4002 c.3985C>T c.(3985-3987)Cga>Tga p.R1329* SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1301*|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1318*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1329* NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1329 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1318R(1)|p.R1329R(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCTTCAAATCGAGATAAGGCT 0.358000 11 25 0 0 0.000978 0 0 ACO1 48 broad.mit.edu 37 9 32419040 32419040 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:32419040C>T ENST00000379923.1 + 8 869 c.663C>T c.(661-663)gtC>gtT p.V221V ACO1_ENST00000309951.5_Silent_p.V221V|ACO1_ENST00000541043.1_Silent_p.V122V NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 221 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TTGCAGGTGTCGGTGGTATTG 0.488000 14 19 0 0 0.001855 0 0 EPHB6 2051 broad.mit.edu 37 7 142562473 142562473 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:142562473C>T ENST00000392957.2 + 7 1702 c.915C>T c.(913-915)taC>taT p.Y305Y EPHB6_ENST00000442129.1_Silent_p.Y305Y|EPHB6_ENST00000411471.2_Silent_p.Y28Y NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 305 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) AGCCTGGATACCAACCAGCAC 0.672000 89 9 0 0 0.003610 0 0 SEMG2 6407 broad.mit.edu 37 20 43850450 43850450 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:43850450C>T ENST00000372769.3 + 2 267 c.177C>T c.(175-177)tcC>tcT p.S59S NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 59 sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) ATACTAAATCCAAAGGCAGTT 0.403000 38 81 0 0 0.006230 0 0 DENND3 22898 broad.mit.edu 37 8 142151412 142151412 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:142151412C>T ENST00000519811.1 + 4 682 c.612C>T c.(610-612)gaC>gaT p.D204D DENND3_ENST00000424248.1_Silent_p.D124D|DENND3_ENST00000262585.2_Silent_p.D124D|DENND3_ENST00000518347.1_Silent_p.D204D A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 124 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CCCTCAAGGACTGCCTTTCCT 0.627000 34 39 0 0 0.006999 0 0 INCENP 3619 broad.mit.edu 37 11 61906202 61906202 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:61906202C>T ENST00000394818.3 + 6 1335 c.1133C>T c.(1132-1134)cCc>cTc p.P378L INCENP_ENST00000278849.4_Missense_Mutation_p.P378L NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 378 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CAGAAGGAACCCCCCGAGGAG 0.632000 10 29 0 0 0.006214 0 0 SUCO 51430 broad.mit.edu 37 1 172558334 172558334 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:172558334T>C ENST00000367723.3 + 17 2673 c.2549T>C c.(2548-2550)gTt>gCt p.V850A SUCO_ENST00000263688.3_Missense_Mutation_p.V698A NM_016227.2 NP_057311.2 SUN domain containing ossification factor GAAACTGTTGTTCTGGGTGAT 0.413000 23 81 0 0 0.003330 0 0 DAB1 1600 broad.mit.edu 37 1 57476456 57476456 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:57476456C>T ENST00000371236.2 - 14 1843 c.1580G>A c.(1579-1581)gGa>gAa p.G527E DAB1_ENST00000371234.4_Missense_Mutation_p.G527E|DAB1_ENST00000371231.1_Missense_Mutation_p.G560E|DAB1_ENST00000420954.2_Missense_Mutation_p.G525E|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.G509E|DAB1_ENST00000439789.2_Missense_Mutation_p.G441E O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 560 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GGCCTGTGATCCATCAGGCTA 0.438000 32 41 0 0 0.001786 0 0 PRKG1 5592 broad.mit.edu 37 10 53814296 53814296 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:53814296C>T ENST00000373980.4 + 6 1232 c.815C>T c.(814-816)aCc>aTc p.T272I PRKG1_ENST00000373985.1_Missense_Mutation_p.T245I|PRKG1_ENST00000401604.2_Missense_Mutation_p.T257I|PRKG1_ENST00000373975.2_5'UTR NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 257 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) AGAGGGGACACCTTCTTTATC 0.413000 10 41 0 0 0.001855 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31975249 31975249 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:31975249G>A ENST00000357886.4 - 6 788 c.635C>T c.(634-636)cCc>cTc p.P212L CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.P212L|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.P212L|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.P212L|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.P122L Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 212 MTTase N-terminal. brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 CAGCAGCCGGGGAAGGTCCCG 0.567000 61 109 0 0 0.003610 0 0 UNC13C 440279 broad.mit.edu 37 15 54305505 54305505 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:54305505G>A ENST00000545554.1 + 1 405 c.405G>A c.(403-405)agG>agA p.R135R UNC13C_ENST00000260323.11_Silent_p.R135R|UNC13C_ENST00000537900.1_Silent_p.R135R Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 135 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATGAACTAAGGAGTAGCACAG 0.438000 26 38 0 0 0.004656 0 0 FCAMR 83953 broad.mit.edu 37 1 207143431 207143431 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:207143431C>T ENST00000324852.4 - 1 514 c.e1+1 FCAMR_ENST00000450945.2_Splice_Site|FCAMR_ENST00000400962.3_Splice_Site NM_001170631.1 NP_001164102.1 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 CATCATTTCACCTTTTGTTCT 0.512000 5 68 0 0 0.001168 0 0 ASB18 401036 broad.mit.edu 37 2 237103554 237103554 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:237103554C>T ENST00000330842.6 - 5 1369 c.1275G>A c.(1273-1275)caG>caA p.Q425Q AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000409749.3_Silent_p.Q454Q|AC079135.1_ENST00000415226.1_RNA Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box containing 18 454 SOCS box. intracellular signal transduction large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) GTAGGTAATTCTGCAGGGGCT 0.537000 8 10 0 0 0.006214 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110498985 110498985 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:110498985C>T ENST00000378402.5 + 59 9919 c.9815C>T c.(9814-9816)tCt>tTt p.S3272F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3272 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCCGGTTGGTCTGAGGACTCT 0.423000 HNSCC(38;0.096) 80 94 0 0 0.003610 0 0 AVIL 10677 broad.mit.edu 37 12 58197128 58197128 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:58197128A>C ENST00000537081.1 - 15 1842 c.1843T>G c.(1843-1845)Tcc>Gcc p.S615A AVIL_ENST00000257861.3_Missense_Mutation_p.S622A|AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron O75366 AVIL_HUMAN advillin 622 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GTCTTATTGGAACATTCAAAG 0.448000 OREG0021955 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 435 0 0 0.007291 0 0 SVOPL 136306 broad.mit.edu 37 7 138305826 138305826 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:138305826G>A ENST00000421622.1 - 10 1166 c.958C>T c.(958-960)Cgc>Tgc p.R320C SVOPL_ENST00000288513.5_Missense_Mutation_p.R288C|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000436657.1_Missense_Mutation_p.R288C|SVOPL_ENST00000419765.3_Missense_Mutation_p.R440C Q8N434 SVOPL_HUMAN SVOP-like 440 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 GCACCAATGCGACACAGGGAG 0.582000 31 6 0 0 0.006230 0 0 PCNT 5116 broad.mit.edu 37 21 47801634 47801634 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:47801634C>T ENST00000359568.5 + 16 3298 c.3191C>T c.(3190-3192)aCt>aTt p.T1064I PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1064 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GAAAAGAAAACTGCTTTGCAT 0.403000 36 174 0 0 0.007835 0 0 TBCE 6905 broad.mit.edu 37 1 235600750 235600750 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:235600750C>T ENST00000543662.1 + 13 1336 c.1230C>T c.(1228-1230)atC>atT p.I410I TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Silent_p.I359I|TBCE_ENST00000406207.1_Silent_p.I359I Q15813 TBCE_HUMAN tubulin folding cofactor E 359 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) TACTCATTATCGCCAGCATTG 0.463000 10 44 0 0 0.001855 0 0 PIPSL 266971 broad.mit.edu 37 10 95720036 95720036 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:95720036C>T ENST00000480546.1 - 0 1261 NR_002319.2 GACAGTGTCTCCGTCATGTAT 0.463000 27 57 0 0 0.007291 0 0 FYB 2533 broad.mit.edu 37 5 39119080 39119080 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:39119080T>A ENST00000351578.6 - 15 2349 c.2159A>T c.(2158-2160)aAa>aTa p.K720I FYB_ENST00000540520.1_Missense_Mutation_p.K776I|FYB_ENST00000512982.1_Missense_Mutation_p.K766I|FYB_ENST00000515010.1_Missense_Mutation_p.K720I|FYB_ENST00000505428.1_Missense_Mutation_p.K766I NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 720 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TCCCCACTTTTTAGAAGTTAT 0.328000 10 35 0 0 0.006214 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32495997 32495997 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:32495997C>T ENST00000327300.7 + 2 648 c.481C>T c.(481-483)Ctg>Ttg p.L161L KHDRBS1_ENST00000492989.1_Silent_p.L161L|KHDRBS1_ENST00000307714.8_3'UTR NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 161 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) AGAGCGAGTGCTGATACCTGT 0.358000 15 23 0 0 0.003163 0 0 ABCC4 10257 broad.mit.edu 37 13 95735479 95735479 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:95735479G>A ENST00000376887.4 - 21 2715 c.2601C>T c.(2599-2601)ccC>ccT p.P867P ABCC4_ENST00000412704.1_Silent_p.P820P NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 867 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GGGGAACCAAGGGTATTGCGA 0.438000 8 18 0 0 0.003080 0 0 ZNF418 147686 broad.mit.edu 37 19 58439268 58439268 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:58439268A>C ENST00000396147.1 - 4 572 c.281T>G c.(280-282)aTt>aGt p.I94S ZNF418_ENST00000595830.1_Missense_Mutation_p.I94S|ZNF418_ENST00000425570.3_Missense_Mutation_p.I115S|ZNF418_ENST00000599852.1_Missense_Mutation_p.I9S|ZNF418_ENST00000600989.1_Intron NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CAAGTGCAAAATGTCTCCCAA 0.498000 69 41 0 0 0.003610 0 0 GCLM 2730 broad.mit.edu 37 1 94362304 94362304 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:94362304T>A ENST00000370238.3 - 5 656 c.410A>T c.(409-411)aAt>aTt p.N137I GCLM_ENST00000467772.1_5'UTR NM_002061.2 NP_002052.1 P48507 GSH0_HUMAN glutamate-cysteine ligase, modifier subunit 137 glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process cytosol|soluble fraction glutamate-cysteine ligase catalytic subunit binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_lung(203;0.000815)|Lung NSC(277;0.00363) all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) CAAGGAAAGATTAACTCCATC 0.408000 27 42 0 0 0.006320 0 0 C1S 716 broad.mit.edu 37 12 7177477 7177477 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:7177477T>A ENST00000406697.1 + 15 2217 c.1589T>A c.(1588-1590)aTt>aAt p.I530N C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.I530N|C1S_ENST00000328916.3_Missense_Mutation_p.I530N|C1S_ENST00000402681.3_Missense_Mutation_p.I363N P09871 C1S_HUMAN complement component 1, s subcomponent 530 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GATAATGACATTGCACTGGTG 0.517000 21 7 0 0 0.001882 0 0 CBLL1 79872 broad.mit.edu 37 7 107389390 107389390 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:107389390C>T ENST00000440859.2 + 2 546 c.79C>T c.(79-81)Cct>Tct p.P27S CBLL1_ENST00000222597.2_Missense_Mutation_p.P27S|CBLL1_ENST00000415884.2_Missense_Mutation_p.P27S NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 27 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 CAGACGAATTCCTATAAAGCT 0.418000 53 122 0 0 0.003610 0 0 PGS1 9489 broad.mit.edu 37 17 76400049 76400049 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:76400049C>T ENST00000262764.6 + 7 1307 c.1281C>T c.(1279-1281)gcC>gcT p.A427A PGS1_ENST00000329897.7_Silent_p.A292A|PGS1_ENST00000588281.1_3'UTR NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 427 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) TGGCCGGCGCCATCCCAGCGG 0.632000 17 40 0 0 0.001216 0 0 FOXN1 8456 broad.mit.edu 37 17 26856199 26856199 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:26856199G>A ENST00000226247.2 + 4 816 c.787G>A c.(787-789)Gat>Aat p.D263N FOXN1_ENST00000579795.1_Missense_Mutation_p.D263N NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 263 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) GGCCAGCACCGATGGGCACCA 0.597000 22 57 0 0 0.006320 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81063817 81063817 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:81063817C>T ENST00000334512.5 + 19 2743 c.2171C>T c.(2170-2172)aCc>aTc p.T724I NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 724 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) GGCAACACGACCCTCAACGGG 0.617000 13 24 0 0 0.001855 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685897 125685897 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:125685897G>A ENST00000371126.1 - 1 937 c.695C>T c.(694-696)gCc>gTc p.A232V NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 232 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 GCTATGCCAGGCAACAGTGTC 0.647000 20 2 0 0 0.001216 0 0 BTNL8 79908 broad.mit.edu 37 5 180377239 180377239 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:180377239C>T ENST00000340184.4 + 8 1404 c.1198C>T c.(1198-1200)Ccc>Tcc p.P400S BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.P216S|BTNL8_ENST00000511704.1_Missense_Mutation_p.P284S|BTNL8_ENST00000400707.3_Missense_Mutation_p.P275S|BTNL8_ENST00000505126.1_Missense_Mutation_p.P193S NM_001040462.2 NP_001035552.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 400 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGCGTCTTCCCCAGGACCCC 0.463000 53 29 0 0 0.003610 0 0 LRP1B 53353 broad.mit.edu 37 2 141081540 141081540 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:141081540C>T ENST00000389484.3 - 81 13407 c.12436G>A c.(12436-12438)Ggt>Agt p.G4146S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4146 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTACTGAACCATGGCCAAAT 0.299000 TSP Lung(27;0.18) 17 63 0 0 0.004007 0 0 KCNB2 9312 broad.mit.edu 37 8 73849945 73849945 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:73849945C>T ENST00000523207.1 + 3 2943 c.2355C>T c.(2353-2355)tcC>tcT p.S785S NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 785 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AAGGGCTGTCCCCCAGGTTTC 0.527000 15 28 0 0 0.003163 0 0 WWC1 23286 broad.mit.edu 37 5 167812347 167812347 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:167812347C>T ENST00000265293.4 + 3 863 c.361C>T c.(361-363)Ctg>Ttg p.L121L WWC1_ENST00000521089.1_Silent_p.L121L NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 121 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GCAGCAGCGCCTGGAGCTTGC 0.597000 9 56 0 0 0.006214 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793363 65793363 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:65793363G>A ENST00000312106.5 - 1 625 c.488C>T c.(487-489)tCc>tTc p.S163F NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 163 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CACGCCAGAGGAATAGTGGGA 0.572000 10 30 0 0 0.001368 0 0 KCNB2 9312 broad.mit.edu 37 8 73849944 73849944 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:73849944C>T ENST00000523207.1 + 3 2942 c.2354C>T c.(2353-2355)tCc>tTc p.S785F NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 785 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AAAGGGCTGTCCCCCAGGTTT 0.522000 15 30 0 0 0.003163 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187703747 187703747 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:187703747C>T ENST00000295131.2 - 4 472 c.433G>A c.(433-435)Gat>Aat p.D145N NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 145 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GAGCAGATATCCTCTGAATCA 0.358000 55 107 0 0 0.003610 0 0 PXDNL 137902 broad.mit.edu 37 8 52321654 52321654 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:52321654G>A ENST00000356297.4 - 17 2630 c.2530C>T c.(2530-2532)Ccc>Tcc p.P844S PXDNL_ENST00000543296.1_Missense_Mutation_p.P844S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 844 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GTGTTCATGGGGAAACAAGGA 0.701000 13 15 0 0 0.001855 0 0 REV1 51455 broad.mit.edu 37 2 100058907 100058907 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:100058907G>A ENST00000258428.3 - 5 603 c.375C>T c.(373-375)tcC>tcT p.S125S REV1_ENST00000393445.3_Silent_p.S125S|REV1_ENST00000465835.1_5'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 125 BRCT. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATGGAATGTAGGAGAGGAGTC 0.443000 Direct reversal of damage 17 48 0 0 0.004990 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73961534 73961534 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:73961534C>T ENST00000476977.1 + 17 3525 c.1834C>T c.(1834-1836)Ctc>Ttc p.L612F GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.L612F|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L612F|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L644F Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 612 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGGCATCTCCCTCCGCAGGCC 0.587000 22 45 0 0 0.001882 0 0 AZI1 22994 broad.mit.edu 37 17 79193716 79193716 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:79193716G>A ENST00000269392.4 - 2 388 c.141C>T c.(139-141)tcC>tcT p.S47S AZI1_ENST00000450824.2_Silent_p.S47S|AZI1_ENST00000575907.1_Silent_p.S47S|AZI1_ENST00000374782.3_Silent_p.S47S NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 47 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CTGTGACCACGGAGACAGAGC 0.652000 83 67 0 0 0.003610 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761585 92761585 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:92761585C>T ENST00000318238.4 - 5 4916 c.3700G>A c.(3700-3702)Gga>Aga p.G1234R SAMD9L_ENST00000411955.1_Missense_Mutation_p.G1234R|SAMD9L_ENST00000437805.1_Missense_Mutation_p.G1234R NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1234 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GTCCACTTTCCTGATAAAAAT 0.358000 115 8 0 0 0.003610 0 0 DAB2 1601 broad.mit.edu 37 5 39377034 39377034 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:39377034G>A ENST00000320816.6 - 12 2322 c.1855C>T c.(1855-1857)Cct>Tct p.P619S DAB2_ENST00000339788.6_Missense_Mutation_p.P401S|DAB2_ENST00000545653.1_Missense_Mutation_p.P598S|DAB2_ENST00000509337.1_Missense_Mutation_p.P598S NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 619 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GGCTGAGGAGGAGTGACCAGG 0.532000 OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 101 0 0 0.003610 0 0 GNA12 2768 broad.mit.edu 37 7 2802292 2802292 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:2802292G>A ENST00000396960.3 - 1 482 c.15C>T c.(13-15)ctC>ctT p.L5L GNA12_ENST00000407904.3_Intron|GNA12_ENST00000544127.1_Intron|GNA12_ENST00000275364.3_Intron|GNA12_ENST00000491117.1_Intron|GNA12_ENST00000407653.1_Silent_p.L77L|AMZ1_ENST00000489665.1_Intron Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 149 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) GCAGGACGATGAGAGGATAAA 0.532000 9 9 0 0 0.004482 0 0 GALP 85569 broad.mit.edu 37 19 56696612 56696612 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:56696612C>T ENST00000357330.2 + 6 406 c.324C>T c.(322-324)ccC>ccT p.P108P GALP_ENST00000440823.1_3'UTR NM_033106.3 NP_149097.1 Q9UBC7 GALP_HUMAN galanin-like peptide 108 neuropeptide signaling pathway extracellular region hormone activity lung(4) 4 Colorectal(82;0.000147)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0507) TGAAAATTCCCAAGGAGGAAG 0.443000 20 15 0 0 0.002780 0 0 MYH7 4625 broad.mit.edu 37 14 23884279 23884279 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:23884279G>A ENST00000355349.3 - 37 5646 c.5484C>T c.(5482-5484)gcC>gcT p.A1828A NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1828 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCTTCTGCTCGGCCTCCAGCT 0.652000 28 152 0 0 0.001786 0 0 MAPRE1 22919 broad.mit.edu 37 20 31424588 31424588 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:31424588C>T ENST00000375571.5 + 4 555 c.416C>T c.(415-417)cCt>cTt p.P139L NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 139 Interaction with MTUS2/TIP150. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 GCAGTGGCTCCTTCCCTTGTT 0.438000 38 78 0 0 0.002852 0 0 CROT 54677 broad.mit.edu 37 7 86990850 86990850 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:86990850C>T ENST00000331536.3 + 5 570 c.385C>T c.(385-387)Ctt>Ttt p.L129F CROT_ENST00000419147.2_Missense_Mutation_p.L157F|CROT_ENST00000442291.1_Missense_Mutation_p.L129F NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 129 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity p.L129F(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) AAGTATAACTCTTTGGCATAA 0.413000 6 72 0 0 0.001168 0 0 HOXD10 3236 broad.mit.edu 37 2 176981967 176981967 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:176981967C>T ENST00000249501.4 + 1 661 c.406C>T c.(406-408)Cct>Tct p.P136S HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 136 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GAGGCTGGTCCCTGAGTCTTG 0.493000 48 86 0 0 0.003610 0 0 DYSF 8291 broad.mit.edu 37 2 71797810 71797810 + Missense_Mutation SNP G G A rs150877497 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:71797810G>A ENST00000258104.3 + 29 3390 c.3113G>A c.(3112-3114)cGa>cAa p.R1038Q DYSF_ENST00000409582.3_Missense_Mutation_p.R1055Q|DYSF_ENST00000394120.2_Missense_Mutation_p.R1039Q|DYSF_ENST00000429174.2_Missense_Mutation_p.R1038Q|DYSF_ENST00000409762.1_Missense_Mutation_p.R1055Q|DYSF_ENST00000413539.2_Missense_Mutation_p.R1069Q|DYSF_ENST00000410041.1_Missense_Mutation_p.R1056Q|DYSF_ENST00000410020.3_Missense_Mutation_p.R1056Q|DYSF_ENST00000409744.1_Missense_Mutation_p.R1025Q|DYSF_ENST00000409651.1_Missense_Mutation_p.R1070Q|DYSF_ENST00000409366.1_Missense_Mutation_p.R1039Q NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1038 Arg-rich. R -> Q (in LGMD2B; uncertain pathogenicity). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TACACACACCGACGGCGGCGC 0.642000 7 23 0 0 0.004482 0 0 GPX6 257202 broad.mit.edu 37 6 28472213 28472213 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:28472213C>T ENST00000361902.1 - 5 571 c.522G>A c.(520-522)atG>atA p.M174I GPX6_ENST00000474923.1_Silent_p.*141* NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 174 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) CATGGACCTTCATGGGCTCCC 0.498000 13 56 0 0 0.002450 0 0 TEX14 56155 broad.mit.edu 37 17 56643154 56643154 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:56643154C>T ENST00000389934.3 - 28 4155 c.4038G>A c.(4036-4038)acG>acA p.T1346T TEX14_ENST00000240361.8_Silent_p.T1352T|TEX14_ENST00000349033.5_Silent_p.T1306T NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1352 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CATGCAACACCGTGGATGAGC 0.478000 13 9 0 0 0.003163 0 0 SLC40A1 30061 broad.mit.edu 37 2 190437582 190437582 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:190437582C>T ENST00000261024.2 - 4 803 c.377G>A c.(376-378)gGa>gAa p.G126E NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 126 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) GAGAACCCATCCATGGTACAT 0.388000 23 25 0 0 0.004656 0 0 LILRB5 10990 broad.mit.edu 37 19 54760538 54760538 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:54760538C>T ENST00000450632.1 - 3 246 c.169G>A c.(169-171)Gag>Aag p.E57K LILRB5_ENST00000449561.2_Missense_Mutation_p.E57K|LILRB5_ENST00000345866.6_Missense_Mutation_p.E57K|LILRB5_ENST00000316219.5_Missense_Mutation_p.E57K O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 57 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGACGGTACTCCTCAGTCTCC 0.627000 35 112 0 0 0.004878 0 0 C7 730 broad.mit.edu 37 5 40931206 40931206 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:40931206C>T ENST00000313164.9 + 3 462 c.103C>T c.(103-105)Cct>Tct p.P35S NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 35 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CTTCTATGCCCCTTGGTCAGA 0.448000 6 27 0 0 0.003080 0 0 PTPRH 5794 broad.mit.edu 37 19 55708105 55708105 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55708105C>T ENST00000376350.3 - 10 2064 c.2042G>A c.(2041-2043)gGa>gAa p.G681E PTPRH_ENST00000263434.5_Missense_Mutation_p.G503E|PTPRH_ENST00000588559.1_5'UTR NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 681 Fibronectin type-III 8. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CAAGTTGACTCCATAGCCCGC 0.592000 6 42 0 0 0.001984 0 0 WNK2 65268 broad.mit.edu 37 9 96002178 96002178 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:96002178G>A ENST00000297954.4 + 6 1462 c.1462G>A c.(1462-1464)Gga>Aga p.G488R WNK2_ENST00000349097.3_Missense_Mutation_p.G100R|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.G100R|WNK2_ENST00000395477.2_Missense_Mutation_p.G488R|WNK2_ENST00000395475.2_Missense_Mutation_p.G474R Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 488 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GAAACTGAAGGGAAAGCCCAA 0.597000 9 4 0 0 0.006214 0 0 ASIC4 55515 broad.mit.edu 37 2 220402443 220402443 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:220402443G>A ENST00000358078.4 + 9 1886 c.1872G>A c.(1870-1872)caG>caA p.Q624Q ASIC4_ENST00000347842.3_Silent_p.Q605Q Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 605 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity TGGGGCTTCAGGAGCTGAAGG 0.582000 7 5 0 0 0.004482 0 0 NLRP11 204801 broad.mit.edu 37 19 56321696 56321696 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:56321696C>T ENST00000443188.1 - 5 990 c.280G>A c.(280-282)Gag>Aag p.E94K NLRP11_ENST00000360133.3_Missense_Mutation_p.E94K|NLRP11_ENST00000592953.1_5'UTR|NLRP11_ENST00000589824.2_Missense_Mutation_p.E94K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E94K NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 94 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TTGCATGCCTCCTGATTGCCT 0.363000 7 31 0 0 0.006214 0 0 C1orf94 84970 broad.mit.edu 37 1 34677979 34677979 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:34677979C>T ENST00000488417.1 + 6 1813 c.1693C>T c.(1693-1695)Ccg>Tcg p.P565S C1orf94_ENST00000373374.3_Missense_Mutation_p.P375S NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 375 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) AGGAGATGGACCGCAGTACCT 0.572000 7 18 0 0 0.004482 0 0 USP40 55230 broad.mit.edu 37 2 234402154 234402154 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:234402154G>A ENST00000251722.6 - 25 2948 c.2831C>T c.(2830-2832)cCc>cTc p.P944L USP40_ENST00000450966.1_Missense_Mutation_p.P956L|USP40_ENST00000427112.2_Missense_Mutation_p.P944L|USP40_ENST00000409945.1_Missense_Mutation_p.P120L Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 944 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) GTGTCCTGAGGGACCCTGAAG 0.498000 6 19 0 0 0.001168 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176598 142176598 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:142176598G>A ENST00000390369.2 - 0 77 TGTACCTTGGGGACTGGGAGA 0.483000 5 71 0 0 0.000602 0 0 GLIS1 148979 broad.mit.edu 37 1 54060041 54060041 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:54060041G>A ENST00000312233.2 - 3 1101 c.535C>T c.(535-537)Ctt>Ttt p.L179F NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 179 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 AGGCCTCCAAGGCTTGGGCCA 0.687000 11 8 0 0 0.001368 0 0 MKL2 57496 broad.mit.edu 37 16 14345755 14345755 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:14345755C>T ENST00000571589.1 + 14 2612 c.2440C>T c.(2440-2442)Cca>Tca p.P814S MKL2_ENST00000574045.1_Missense_Mutation_p.P764S|MKL2_ENST00000318282.5_Missense_Mutation_p.P764S|MKL2_ENST00000341243.5_Missense_Mutation_p.P803S NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 803 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TACAGTTCTTCCATATCAGAG 0.398000 57 48 0 0 0.003610 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94540348 94540348 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:94540348C>T ENST00000289495.5 + 1 1139 c.923C>T c.(922-924)tCt>tTt p.S308F PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S308F|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S308F|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S308F|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.S308F|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S308F NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 308 cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GACTCCACATCTAATCAACAG 0.478000 HNSCC(28;0.073) 25 53 0 0 0.003330 0 0 KLK5 25818 broad.mit.edu 37 19 51452135 51452135 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:51452135C>T ENST00000336334.3 - 4 924 c.572G>A c.(571-573)gGg>gAg p.G191E KLK5_ENST00000593428.1_Missense_Mutation_p.G191E|KLK5_ENST00000391809.2_Missense_Mutation_p.G191E NM_012427.4 NP_036559.1 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 191 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) CTTGGTTGTCCCCCAGCCAGA 0.507000 14 31 0 0 0.003163 0 0 PSD4 23550 broad.mit.edu 37 2 113940778 113940778 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:113940778C>T ENST00000245796.6 + 2 940 c.745C>T c.(745-747)Ccc>Tcc p.P249S PSD4_ENST00000441564.2_Missense_Mutation_p.P249S NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 249 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTTCAGCAACCCCCTCTTCCT 0.597000 23 20 0 0 0.002780 0 0 DYSF 8291 broad.mit.edu 37 2 71766337 71766337 + Missense_Mutation SNP C C T rs139258703 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:71766337C>T ENST00000258104.3 + 16 1725 c.1448C>T c.(1447-1449)tCg>tTg p.S483L DYSF_ENST00000409582.3_Missense_Mutation_p.S514L|DYSF_ENST00000394120.2_Missense_Mutation_p.S484L|DYSF_ENST00000429174.2_Missense_Mutation_p.S483L|DYSF_ENST00000409762.1_Missense_Mutation_p.S514L|DYSF_ENST00000413539.2_Missense_Mutation_p.S514L|DYSF_ENST00000410041.1_Missense_Mutation_p.S515L|DYSF_ENST00000410020.3_Missense_Mutation_p.S515L|DYSF_ENST00000409744.1_Missense_Mutation_p.S484L|DYSF_ENST00000409651.1_Missense_Mutation_p.S515L|DYSF_ENST00000409366.1_Missense_Mutation_p.S484L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 483 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTGAGTATGTCGAAAATCTCT 0.552000 18 64 0 0 0.001216 0 0 OR11H6 122748 broad.mit.edu 37 14 20691874 20691874 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:20691874C>T ENST00000315519.2 + 1 84 c.6C>T c.(4-6)ttC>ttT p.F2F NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F2L(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) tccaaatgttctttattattC 0.378000 30 41 0 0 0.001512 0 0 VTCN1 79679 broad.mit.edu 37 1 117753470 117753470 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:117753470G>A ENST00000369458.3 - 1 86 c.8C>T c.(7-9)tCc>tTc p.S3F VTCN1_ENST00000328189.3_Missense_Mutation_p.S3F|VTCN1_ENST00000463461.1_5'UTR NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 3 integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) CTGCCCCAGGGAAGCCATGGC 0.557000 16 33 0 0 0.004990 0 0 MYOCD 93649 broad.mit.edu 37 17 12655976 12655976 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:12655976G>A ENST00000425538.1 + 10 1571 c.1371G>A c.(1369-1371)ccG>ccA p.P457P MYOCD_ENST00000395988.1_Silent_p.P361P|MYOCD_ENST00000343344.4_Silent_p.P457P NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 457 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCAGCCCCCCGATCTCCCCAG 0.627000 13 54 0 0 0.003163 0 0 TRMT6 51605 broad.mit.edu 37 20 5923407 5923407 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:5923407G>A ENST00000203001.2 - 7 823 c.693C>T c.(691-693)taC>taT p.Y231Y TRMT6_ENST00000453074.2_Silent_p.Y61Y|TRMT6_ENST00000473131.1_5'UTR NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 231 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 CTCCTCCAGGGTATAGCTGAA 0.458000 50 15 0 0 0.003610 0 0 C16orf45 89927 broad.mit.edu 37 16 15661910 15661910 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:15661910C>T ENST00000300006.4 + 3 660 c.301C>T c.(301-303)Cca>Tca p.P101S C16orf45_ENST00000566490.1_Missense_Mutation_p.P101S|C16orf45_ENST00000452191.2_Missense_Mutation_p.P84S|C16orf45_ENST00000561692.1_Missense_Mutation_p.P53S NM_033201.2 NP_149978.1 Q96MC5 CP045_HUMAN chromosome 16 open reading frame 45 101 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1) 11 GGTCGCCATCCCAGGTAACCA 0.557000 8 20 0 0 0.006214 0 0 MDH1B 130752 broad.mit.edu 37 2 207619767 207619767 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:207619767G>A ENST00000374412.3 - 5 1151 c.876C>T c.(874-876)gcC>gcT p.A292A MDH1B_ENST00000449792.1_Silent_p.A194A|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Silent_p.A292A NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 292 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TGGCCAGTATGGCTTTCGCTT 0.423000 17 25 0 0 0.004007 0 0 PCDHA6 56142 broad.mit.edu 37 5 140207914 140207914 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140207914C>A ENST00000529310.1 + 1 352 c.238C>A c.(238-240)Cag>Aag p.Q80K PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.Q80K|PCDHA2_ENST00000526136.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTAAATCTGCAGAATGGCAT 0.632000 29 238 7.61001e-30 1.24297e-29 0.005524 1 0 KRT12 3859 broad.mit.edu 37 17 39019775 39019775 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:39019775G>A ENST00000251643.4 - 5 1080 c.1057C>T c.(1057-1059)Cag>Tag p.Q353* NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 353 Coil 2.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) TCCAGGTTCTGAAAGGCGCGA 0.557000 11 61 0 0 0.000673 0 0 ABCA8 10351 broad.mit.edu 37 17 66928584 66928584 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:66928584G>A ENST00000269080.2 - 6 779 c.642C>T c.(640-642)ttC>ttT p.F214F ABCA8_ENST00000430352.2_Silent_p.F214F|ABCA8_ENST00000586539.1_Silent_p.F214F NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 214 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) ATTGACCAATGAAGGAATGCA 0.338000 18 88 0 0 0.001523 0 0 MXRA5 25878 broad.mit.edu 37 X 3235716 3235716 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:3235716G>A ENST00000217939.6 - 6 6160 c.6006C>T c.(6004-6006)atC>atT p.I2002I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2002 Ig-like C2-type 4. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGTGCAGGGTGATGCGGCCCT 0.612000 10 19 0 0 0.001368 0 0 LPA 4018 broad.mit.edu 37 6 161006211 161006211 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:161006211G>A ENST00000447678.1 - 27 4276 c.4156C>T c.(4156-4158)Cag>Tag p.Q1386* LPA_ENST00000316300.5_Nonsense_Mutation_p.Q1386* NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3894 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TAGCAGTCCTGGACCCCAGTG 0.433000 86 21 0 0 0.003610 0 0 KIAA1211 57482 broad.mit.edu 37 4 57164435 57164435 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:57164435C>T ENST00000504228.1 + 2 145 c.40C>T c.(40-42)Cct>Tct p.P14S KIAA1211_ENST00000264229.6_Missense_Mutation_p.P14S|KIAA1211_ENST00000541073.1_5'UTR Q6ZU35 K1211_HUMAN KIAA1211 14 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) TATTTTTATCCCTGATGGGGG 0.428000 11 21 0 0 0.000673 0 0 OR51B4 79339 broad.mit.edu 37 11 5322912 5322912 + Missense_Mutation SNP C C T rs150447535 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:5322912C>T ENST00000380224.1 - 1 314 c.265G>A c.(265-267)Gag>Aag p.E89K HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGCAATCTCCCTCTGGTCT 0.502000 37 7 0 0 0.006230 0 0 TAF1C 9013 broad.mit.edu 37 16 84215990 84215990 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:84215990G>A ENST00000567759.1 - 7 721 c.539C>T c.(538-540)cCc>cTc p.P180L TAF1C_ENST00000541676.1_Missense_Mutation_p.P113L|TAF1C_ENST00000378541.4_Missense_Mutation_p.P180L|TAF1C_ENST00000341690.6_Missense_Mutation_p.P113L|TAF1C_ENST00000566732.1_Missense_Mutation_p.P180L|TAF1C_ENST00000570117.1_5'UTR NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 180 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GCCCAGGATGGGGCCCCCGAG 0.657000 3 5 0 0 0.004672 0 0 ZNF536 9745 broad.mit.edu 37 19 30934682 30934682 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:30934682C>T ENST00000355537.3 + 2 360 c.213C>T c.(211-213)ccC>ccT p.P71P NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCCACGTGCCCATGAGCGGCC 0.682000 19 16 0 0 0.001523 0 0 ZNF606 80095 broad.mit.edu 37 19 58489985 58489985 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:58489985G>A ENST00000341164.4 - 7 2683 c.2063C>T c.(2062-2064)tCc>tTc p.S688F ZNF606_ENST00000536132.1_Missense_Mutation_p.S598F NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 688 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) ACAGTTAAAGGATCTTTCACA 0.403000 46 24 0 0 0.003214 0 0 AGR2 10551 broad.mit.edu 37 7 16832568 16832568 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:16832568C>T ENST00000419304.2 - 8 644 c.492G>A c.(490-492)atG>atA p.M164I AGR2_ENST00000419572.2_Missense_Mutation_p.M184I NM_006408.3 NP_006399.1 O95994 AGR2_HUMAN anterior gradient 2 164 mucus secretion endoplasmic reticulum|extracellular region protein binding endometrium(2)|lung(1)|prostate(1)|skin(2) 6 Lung NSC(10;0.0376)|all_lung(11;0.0855) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) GAGCTTTCTTCATGTTGTCAA 0.408000 11 89 0 0 0.001855 0 0 OR2L2 26246 broad.mit.edu 37 1 248201930 248201930 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248201930C>T ENST00000366479.2 + 1 457 c.361C>T c.(361-363)Cgt>Tgt p.R121C OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GGCCTATGATCGTTATGTGGC 0.428000 29 93 0 0 0.001786 0 0 LRBA 987 broad.mit.edu 37 4 151271219 151271219 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:151271219G>A ENST00000535741.1 - 48 7760 c.7287C>T c.(7285-7287)gcC>gcT p.A2429A LRBA_ENST00000357115.3_Silent_p.A2440A|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Silent_p.A2429A|LRBA_ENST00000507224.1_Silent_p.A2429A P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2440 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) ACACATTGAGGGCTCGGACAG 0.418000 27 22 0 0 0.005443 0 0 URGCP 55665 broad.mit.edu 37 7 43917086 43917086 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:43917086G>A ENST00000336086.6 - 4 4083 c.1847C>T c.(1846-1848)cCt>cTt p.P616L URGCP_ENST00000443736.1_Missense_Mutation_p.P616L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.P616L|URGCP_ENST00000402306.3_Missense_Mutation_p.P650L|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Missense_Mutation_p.P659L|URGCP_ENST00000447717.3_Missense_Mutation_p.P616L Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 659 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TAGCTCCAGAGGCAGCCCTGT 0.652000 41 12 0 0 0.006999 0 0 TNXB 7148 broad.mit.edu 37 6 32016313 32016313 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32016313G>A ENST00000375244.3 - 29 10073 c.9872C>T c.(9871-9873)tCc>tTc p.S3291F TNXB_ENST00000375247.2_Missense_Mutation_p.S3289F P22105 TENX_HUMAN tenascin XB 3336 Fibronectin type-III 24. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TACCAGGAAGGAGTCAAAGGG 0.731000 41 349 0 0 0.003214 0 0 ZNF324B 388569 broad.mit.edu 37 19 58966606 58966606 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:58966606C>T ENST00000391696.1 + 3 1197 c.265C>T c.(265-267)Cca>Tca p.P89S ZNF324B_ENST00000336614.4_Missense_Mutation_p.P99S|ZNF324B_ENST00000545523.1_Missense_Mutation_p.P99S Q6AW86 Z324B_HUMAN zinc finger protein 324B 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) ACGAGCTTTCCCAGATACCCC 0.552000 77 77 0 0 0.003610 0 0 LAMB2 3913 broad.mit.edu 37 3 49168257 49168257 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:49168257C>A ENST00000418109.1 - 9 1116 c.952G>T c.(952-954)Ggc>Tgc p.G318C LAMB2_ENST00000305544.4_Missense_Mutation_p.G318C NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 318 Laminin EGF-like 1. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGTTGAGGCCACGTGTGTTG 0.582000 37 95 2.6416e-12 4.28938e-12 0.006230 1 0 CSMD1 64478 broad.mit.edu 37 8 3009022 3009022 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:3009022C>T ENST00000520002.1 - 41 6486 c.5931G>A c.(5929-5931)ggG>ggA p.G1977G CSMD1_ENST00000400186.3_Silent_p.G1977G|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.G1977G|CSMD1_ENST00000539096.1_Silent_p.G1976G|CSMD1_ENST00000602557.1_Silent_p.G1977G|CSMD1_ENST00000537824.1_Silent_p.G1976G|CSMD1_ENST00000542608.1_Silent_p.G1976G Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1977 CUB 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCTCAGCGTCCCTCCACAGG 0.537000 6 1 0 0 0.003080 0 0 C2orf83 56918 broad.mit.edu 37 2 228476116 228476116 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:228476116C>T ENST00000264387.4 - 3 533 c.447G>A c.(445-447)ggG>ggA p.G149G C2orf83_ENST00000409066.1_3'UTR NM_020161.3 NP_064546.3 Q53S99 CB083_HUMAN chromosome 2 open reading frame 83 149 membrane folic acid binding|reduced folate carrier activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2) 11 GAAGCTAGTTCCCCTGAAACC 0.473000 25 46 0 0 0.001786 0 0 FAT4 79633 broad.mit.edu 37 4 126411466 126411466 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:126411466G>A ENST00000394329.3 + 17 13502 c.13489G>A c.(13489-13491)Gag>Aag p.E4497K FAT4_ENST00000335110.5_Missense_Mutation_p.E2738K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4497 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGGCCCTGAAGAGATCTCTCT 0.602000 16 38 0 0 0.006122 0 0 NUP85 79902 broad.mit.edu 37 17 73214293 73214293 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:73214293C>T ENST00000245544.4 + 7 560 c.489C>T c.(487-489)ctC>ctT p.L163L NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000447371.2_Intron|NUP85_ENST00000541827.1_Silent_p.L117L|NUP85_ENST00000579324.1_Silent_p.L51L|NUP85_ENST00000579298.1_Silent_p.L163L NM_024844.3 NP_079120.1 Q9BW27 NUP85_HUMAN nucleoporin 85kDa 163 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) GCCCTCTCCTCCTCCATCTCC 0.522000 16 57 0 0 0.004007 0 0 SCN9A 6335 broad.mit.edu 37 2 167168250 167168250 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:167168250G>A ENST00000375387.4 - 2 357 c.17C>T c.(16-18)cCc>cTc p.P6L SCN9A_ENST00000409435.1_Missense_Mutation_p.P6L|SCN9A_ENST00000303354.6_Missense_Mutation_p.P6L|SCN9A_ENST00000409672.1_Missense_Mutation_p.P6L Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 6 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AGGTCCTGGGGGAGGCAACAT 0.403000 19 35 0 0 0.001882 0 0 FAM186B 84070 broad.mit.edu 37 12 49994667 49994667 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:49994667C>T ENST00000544141.1 - 4 1085 c.486G>A c.(484-486)aaG>aaA p.K162K FAM186B_ENST00000257894.2_Silent_p.K252K|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 252 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCCTGTTCTCCTTGTGTTGGA 0.562000 12 79 0 0 0.001855 0 0 FAM83C 128876 broad.mit.edu 37 20 33874493 33874493 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:33874493C>T ENST00000374408.3 - 4 2185 c.2089G>A c.(2089-2091)Gag>Aag p.E697K NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 697 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCCCCAGGCTCAGTTCCCTGC 0.587000 48 111 0 0 0.003610 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41320445 41320445 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:41320445C>T ENST00000357137.4 + 9 1400 c.1316C>T c.(1315-1317)tCc>tTc p.S439F XPNPEP3_ENST00000544094.1_Missense_Mutation_p.S416F NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 439 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 ATGCCCCGTTCCCTCCCTCTG 0.458000 22 84 0 0 0.003954 0 0 KIF20B 9585 broad.mit.edu 37 10 91497753 91497753 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:91497753C>T ENST00000416354.1 + 20 3317 c.3245C>T c.(3244-3246)tCt>tTt p.S1082F KIF20B_ENST00000260753.4_Missense_Mutation_p.S1012F|KIF20B_ENST00000394289.2_Missense_Mutation_p.S1052F|KIF20B_ENST00000371728.3_Missense_Mutation_p.S1052F|KIF20B_ENST00000478929.1_3'UTR Q96Q89 KI20B_HUMAN kinesin family member 20B 1052 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 AGGGAAAATTCTTTCCACTCT 0.333000 40 75 0 0 0.003214 0 0 COL6A5 256076 broad.mit.edu 37 3 130188179 130188179 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:130188179C>T ENST00000265379.6 + 38 7825 c.7331C>T c.(7330-7332)tCc>tTc p.S2444F COL6A5_ENST00000432398.2_Missense_Mutation_p.S2444F A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2444 Nonhelical region.|VWFA 10. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 TTTGTGTTTTCCTTTGGCCCT 0.443000 25 8 0 0 0.003954 0 0 ATP6V0E2 155066 broad.mit.edu 37 7 149576726 149576726 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:149576726C>T ENST00000421974.2 + 3 1553 c.602C>T c.(601-603)cCt>cTt p.P201L ATP6V0E2_ENST00000606024.1_Missense_Mutation_p.P152L|ATP6V0E2_ENST00000425642.2_3'UTR|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.P175L NM_001100592.1 NP_001094062.1 Q8NHE4 VA0E2_HUMAN ATPase, H+ transporting V0 subunit e2 0 ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00256) GGGTCTTTCCCTTTACAGACG 0.632000 19 2 0 0 0.001216 0 0 COL11A2 1302 broad.mit.edu 37 6 33156922 33156922 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:33156922G>A ENST00000341947.2 - 3 503 c.276C>T c.(274-276)acC>acT p.T92T COL11A2_ENST00000374712.1_Silent_p.T92T|COL11A2_ENST00000361917.1_Silent_p.T92T|COL11A2_ENST00000357486.1_Silent_p.T92T|COL11A2_ENST00000374714.1_Silent_p.T92T|COL11A2_ENST00000395194.1_Silent_p.T92T|COL11A2_ENST00000374713.1_Silent_p.T92T|COL11A2_ENST00000374708.4_Silent_p.T92T|COL11A2_ENST00000395197.1_Silent_p.T92T NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 92 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GACCAGGGCGGGTCCGGACAA 0.592000 33 53 0 0 0.002445 0 0 QSOX1 5768 broad.mit.edu 37 1 180163365 180163365 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:180163365C>T ENST00000367602.3 + 11 1380 c.1306C>T c.(1306-1308)Ctc>Ttc p.L436F QSOX1_ENST00000367600.5_Missense_Mutation_p.L436F O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 436 ERV/ALR sulfhydryl oxidase. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CAAGGAGGTCCTCCCAGCCAT 0.672000 6 26 0 0 0.001168 0 0 TRPM8 79054 broad.mit.edu 37 2 234894424 234894424 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:234894424C>T ENST00000324695.4 + 21 2894 c.2854C>T c.(2854-2856)Ccc>Tcc p.P952S TRPM8_ENST00000433712.2_Missense_Mutation_p.P530S NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 952 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GCCCCGGTTCCCCGAGTGGAT 0.547000 13 29 0 0 0.001368 0 0 MCPH1 79648 broad.mit.edu 37 8 6338321 6338321 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:6338321T>A ENST00000344683.5 + 11 2136 c.2060T>A c.(2059-2061)cTt>cAt p.L687H NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 687 BRCT 2. microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) ACTCACGTGCTTTCCGGGAAG 0.517000 17 11 0 0 0.006122 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86916612 86916612 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:86916612C>T ENST00000395184.1 + 9 2271 c.1805C>T c.(1804-1806)tCc>tTc p.S602F ARHGAP24_ENST00000264343.4_Missense_Mutation_p.S509F|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.S507F NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 602 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) GACGACCTTTCCCACCCCAGG 0.552000 19 29 0 0 0.007413 0 0 HNF4G 3174 broad.mit.edu 37 8 76470903 76470903 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:76470903C>T ENST00000396423.2 + 7 978 c.854C>T c.(853-855)cCa>cTa p.P285L HNF4G_ENST00000354370.1_Missense_Mutation_p.P248L NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 248 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.P285Q(1)|p.P248Q(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TTTTTTGATCCAGGTTGGTTT 0.303000 46 58 0 0 0.003610 0 0 ZNF638 27332 broad.mit.edu 37 2 71576164 71576164 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:71576164C>T ENST00000409544.1 + 2 710 c.80C>T c.(79-81)cCt>cTt p.P27L ZNF638_ENST00000377802.2_Missense_Mutation_p.P27L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.P27L|ZNF638_ENST00000264447.4_Missense_Mutation_p.P27L NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 27 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 GGGATGAGGCCTCCAGGACCA 0.507000 16 79 0 0 0.003163 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73075268 73075268 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:73075268C>T ENST00000263674.3 + 17 5735 c.5385C>T c.(5383-5385)gtC>gtT p.V1795V NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1795 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 AGCTTGTGGTCTACCAAAGGG 0.552000 50 134 0 0 0.003610 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610393 47610393 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:47610393G>A ENST00000371891.3 + 8 1100 c.1069G>A c.(1069-1071)Gat>Aat p.D357N CYP4A22_ENST00000485117.1_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.D357N|CYP4A22_ENST00000371890.3_Intron NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 357 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTCCTGGGTGATGGAGCCTC 0.622000 7 17 0 0 0.001984 0 0 C2orf71 388939 broad.mit.edu 37 2 29295648 29295648 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:29295648C>T ENST00000331664.5 - 1 1479 c.1480G>A c.(1480-1482)Gaa>Aaa p.E494K NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 494 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 ATTTTGTCTTCCTCCTCCTCC 0.537000 72 51 0 0 0.003610 0 0 VWCE 220001 broad.mit.edu 37 11 61058815 61058815 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:61058815G>A ENST00000335613.5 - 3 602 c.216C>T c.(214-216)tcC>tcT p.S72S NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 72 EGF-like 1. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CACAGCCGAAGGAGCAGAGGG 0.642000 13 10 0 0 0.001855 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45712031 45712031 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:45712031G>A ENST00000310806.4 - 3 1049 c.591C>T c.(589-591)ttC>ttT p.F197F NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 197 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TGACCGGGAGGAAAATATCAT 0.338000 27 53 0 0 0.001786 0 0 KRT83 3889 broad.mit.edu 37 12 52709692 52709692 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:52709692T>C ENST00000293670.3 - 7 1309 c.1247A>G c.(1246-1248)gAg>gGg p.E416G AC121757.1_ENST00000594763.1_Intron NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 416 Coil 2.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CTCCTCGCCCTCCAGCAGGCG 0.577000 71 39 0 0 0.003610 0 0 HTR6 3362 broad.mit.edu 37 1 20005188 20005188 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:20005188G>A ENST00000289753.1 + 2 1310 c.843G>A c.(841-843)tgG>tgA p.W281* NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 281 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) TTGTGACCTGGTTGCCCTTCT 0.622000 10 8 0 0 0.000978 0 0 FILIP1L 11259 broad.mit.edu 37 3 99567805 99567805 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:99567805C>T ENST00000331335.5 - 5 3185 c.2715G>A c.(2713-2715)aaG>aaA p.K905K FILIP1L_ENST00000354552.3_Silent_p.K905K|FILIP1L_ENST00000487087.1_Silent_p.K481K|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Silent_p.K665K|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Silent_p.K665K NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 905 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 CTGGAGTAACCTTTATATGAA 0.448000 133 81 0 0 0.003610 0 0 M1AP 130951 broad.mit.edu 37 2 74842119 74842119 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:74842119C>T ENST00000290536.5 - 3 514 c.398G>A c.(397-399)aGg>aAg p.R133K M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.R133K|M1AP_ENST00000536235.1_Missense_Mutation_p.R133K NM_138804.3 NP_620159.2 meiosis 1 associated protein CAGAGCTGCCCTTGTGGTCAC 0.493000 19 55 0 0 0.001216 0 0 KHDC1 80759 broad.mit.edu 37 6 73952130 73952130 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:73952130G>A ENST00000423730.3 - 2 546 c.112_splice c.e2+1 p.F37_splice KHDC1_ENST00000257765.5_Splice_Site_p.F37_splice|KHDC1_ENST00000370384.3_Splice_Site_p.F110_splice GCCACTCACCGAAGATGAGCT 0.522000 16 20 0 0 0.006122 0 0 PFKFB1 5207 broad.mit.edu 37 X 54982606 54982606 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:54982606G>A ENST00000375006.3 - 7 688 c.618C>T c.(616-618)ccC>ccT p.P206P PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.P141P NM_002625.2 NP_002616.2 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 206 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 cctcATCCAAGGGTTGGTAGT 0.438000 17 21 0 0 0.006122 0 0 DOCK1 1793 broad.mit.edu 37 10 129160391 129160391 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:129160391C>T ENST00000280333.6 + 33 3393 c.3284C>T c.(3283-3285)cCc>cTc p.P1095L NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1095 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) ACATTAATTCCCGAGACGGAG 0.413000 4 17 0 0 0.000602 0 0 CACNG7 59284 broad.mit.edu 37 19 54444867 54444867 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:54444867G>A ENST00000391767.1 + 5 780 c.568G>A c.(568-570)Gag>Aag p.E190K CACNG7_ENST00000391766.1_Missense_Mutation_p.E190K|CACNG7_ENST00000222212.2_Missense_Mutation_p.E190K P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 190 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CCTACTCAAAGAGGTGACGTC 0.552000 27 88 0 0 0.007291 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182667 140182667 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140182667G>A ENST00000522353.2 + 1 1885 c.1885G>A c.(1885-1887)Gga>Aga p.G629R PCDHA3_ENST00000532566.2_Missense_Mutation_p.G629R|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGTACACGGGAGAGATCAG 0.657000 22 54 0 0 0.002780 0 0 CYP26A1 1592 broad.mit.edu 37 10 94837052 94837052 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:94837052G>A ENST00000371531.1 + 7 1656 c.1278G>A c.(1276-1278)ggG>ggA p.G426G CYP26A1_ENST00000394139.1_Silent_p.G426G|CYP26A1_ENST00000224356.4_Silent_p.G495G NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 495 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) ATTTCCATGGGGAAATCTGAT 0.393000 11 36 0 0 0.000673 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58196577 58196577 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:58196577C>T ENST00000483681.1 - 3 638 c.57G>A c.(55-57)ctG>ctA p.L19L DNASE1L3_ENST00000486455.1_Silent_p.L19L|DNASE1L3_ENST00000318316.3_Silent_p.L19L|DNASE1L3_ENST00000394549.2_Silent_p.L19L Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 19 L -> V (in a breast cancer sample; somatic mutation). apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) TCCTCATGGCCAGGGCGCTGT 0.567000 25 56 0 0 0.003954 0 0 DIP2C 22982 broad.mit.edu 37 10 465055 465055 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:465055G>A ENST00000280886.6 - 6 776 c.689C>T c.(688-690)tCc>tTc p.S230F DIP2C_ENST00000381496.3_Missense_Mutation_p.S123F NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 230 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CGCTGTCCGGGACCCCGTGGA 0.542000 14 13 0 0 0.003163 0 0 CDH18 1016 broad.mit.edu 37 5 19839093 19839093 + Translation_Start_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:19839093C>T ENST00000507958.1 - 5 993 c.3G>A c.(1-3)atG>atA p.M1I CDH18_ENST00000274170.4_Start_Codon_SNP_p.M1I|CDH18_ENST00000506372.1_Start_Codon_SNP_p.M1I|CDH18_ENST00000382275.1_Start_Codon_SNP_p.M1I|CDH18_ENST00000502796.1_Start_Codon_SNP_p.M1I|CDH18_ENST00000511273.1_Start_Codon_SNP_p.M1I Q13634 CAD18_HUMAN cadherin 18, type 2 1 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TAGTAATTTTCATTGTAAGAT 0.428000 32 12 0 0 0.002836 0 0 GORASP2 26003 broad.mit.edu 37 2 171804879 171804879 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:171804879G>A ENST00000234160.4 + 2 898 c.83G>A c.(82-84)gGa>gAa p.G28E GORASP2_ENST00000452526.2_Missense_Mutation_p.G40E|GORASP2_ENST00000493692.1_3'UTR NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 28 PDZ. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 AATTCCCCAGGACACAGAGCT 0.323000 14 24 0 0 0.006122 0 0 GPR98 84059 broad.mit.edu 37 5 90106148 90106148 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:90106148G>A ENST00000405460.2 + 74 15167 c.15071G>A c.(15070-15072)aGa>aAa p.R5024K GPR98_ENST00000425867.2_Missense_Mutation_p.R685K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5024 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CAGATGATCAGATTACATGTA 0.403000 23 9 0 0 0.002780 0 0 LAMA3 3909 broad.mit.edu 37 18 21441693 21441693 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:21441693G>A ENST00000313654.9 + 35 4747 c.4506G>A c.(4504-4506)atG>atA p.M1502I LAMA3_ENST00000399516.3_Missense_Mutation_p.M1502I NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1502 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCAACAGTATGGTGGCGGATC 0.577000 18 14 0 0 0.006122 0 0 COL7A1 1294 broad.mit.edu 37 3 48627128 48627128 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:48627128C>T ENST00000328333.8 - 16 2181 c.2074G>A c.(2074-2076)Gtc>Atc p.V692I COL7A1_ENST00000454817.1_Missense_Mutation_p.V692I NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 692 Fibronectin type-III 6.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTCACATGGACCGTCCTCACT 0.602000 37 25 0 0 0.002222 0 0 C2orf16 84226 broad.mit.edu 37 2 27802602 27802602 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:27802602G>A ENST00000408964.2 + 1 3214 c.3163G>A c.(3163-3165)Gat>Aat p.D1055N NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1055 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CTCACAGAGTGATTCCCAGAC 0.463000 34 84 0 0 0.004289 0 0 NFASC 23114 broad.mit.edu 37 1 204923977 204923977 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:204923977G>A ENST00000367172.4 + 7 761 c.433G>A c.(433-435)Gaa>Aaa p.E145K NFASC_ENST00000367171.4_Missense_Mutation_p.E145K|NFASC_ENST00000404076.1_Missense_Mutation_p.E139K|NFASC_ENST00000338586.6_Missense_Mutation_p.E145K|NFASC_ENST00000339876.6_Missense_Mutation_p.E145K|NFASC_ENST00000404907.1_Missense_Mutation_p.E139K|NFASC_ENST00000367170.4_Missense_Mutation_p.E145K|NFASC_ENST00000403080.1_Missense_Mutation_p.E145K|NFASC_ENST00000513543.1_Missense_Mutation_p.E139K|NFASC_ENST00000367169.4_Missense_Mutation_p.E145K|NFASC_ENST00000401399.1_Missense_Mutation_p.E145K|NFASC_ENST00000338515.6_Missense_Mutation_p.E145K|NFASC_ENST00000539706.1_Missense_Mutation_p.E139K|NFASC_ENST00000360049.4_Missense_Mutation_p.E139K O94856 NFASC_HUMAN neurofascin 145 Ig-like C2-type 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GTGGCCCAAGGAAAACCTAGA 0.597000 35 140 0 0 0.005524 0 0 VPS13A 23230 broad.mit.edu 37 9 79959074 79959074 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:79959074C>T ENST00000360280.3 + 51 7292 c.7032C>T c.(7030-7032)atC>atT p.I2344I VPS13A_ENST00000376636.3_Silent_p.I2305I|VPS13A_ENST00000376634.4_Silent_p.I2344I|VPS13A_ENST00000357409.5_Silent_p.I2344I NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2344 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TTTAGTGTATCCCCTTTTGGC 0.284000 12 26 0 0 0.001368 0 0 ETV1 2115 broad.mit.edu 37 7 13971235 13971235 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:13971235G>A ENST00000343495.5 - 8 1378 c.640C>T c.(640-642)Cac>Tac p.H214Y ETV1_ENST00000405218.2_Missense_Mutation_p.H232Y|ETV1_ENST00000403527.1_Missense_Mutation_p.H192Y|ETV1_ENST00000420159.2_Missense_Mutation_p.H174Y|ETV1_ENST00000405192.2_Missense_Mutation_p.H232Y|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Missense_Mutation_p.H246Y|ETV1_ENST00000430479.1_Missense_Mutation_p.H232Y|ETV1_ENST00000403685.1_Missense_Mutation_p.H214Y|ETV1_ENST00000242066.5_Missense_Mutation_p.H214Y|ETV1_ENST00000399357.3_Missense_Mutation_p.H129Y P50549 ETV1_HUMAN ets variant 1 232 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 ACTGGGTCGTGGTACTCCTGC 0.522000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 45 25 0 0 0.003610 0 0 FLT4 2324 broad.mit.edu 37 5 180048672 180048672 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:180048672C>T ENST00000261937.6 - 13 1968 c.1890G>A c.(1888-1890)ggG>ggA p.G630G FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.G630G|FLT4_ENST00000502649.1_Silent_p.G630G NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 630 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CGTGGCGCGCCCCAGGTGCCA 0.682000 17 11 0 0 0.006122 0 0 MTMR8 55613 broad.mit.edu 37 X 63563500 63563500 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:63563500G>A ENST00000374852.3 - 8 1033 c.966C>T c.(964-966)ttC>ttT p.F322F MTMR8_ENST00000453546.1_Silent_p.F322F|MTMR8_ENST00000478487.1_5'UTR NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 322 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 CCTTTGTAATGAAAATTCCAG 0.348000 12 0 0 0 0.003163 0 0 GRIA3 2892 broad.mit.edu 37 X 122551351 122551351 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:122551351G>A ENST00000264357.5 + 11 1891 c.1599G>A c.(1597-1599)atG>atA p.M533I GRIA3_ENST00000542149.1_Missense_Mutation_p.M533I|GRIA3_ENST00000371251.1_Missense_Mutation_p.M533I|GRIA3_ENST00000541091.1_Missense_Mutation_p.M517I|GRIA3_ENST00000371256.5_Missense_Mutation_p.M533I NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 533 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TCTCCATCATGATAAAGAAGC 0.423000 71 74 0 0 0.003610 0 0 LRP10 26020 broad.mit.edu 37 14 23345251 23345251 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:23345251C>T ENST00000359591.4 + 5 1785 c.1094C>T c.(1093-1095)gCt>gTt p.A365V LRP10_ENST00000546834.1_Missense_Mutation_p.A365V NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 365 LDL-receptor class A 3. A -> T (in Ref. 8). endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) CCCTGTGGGGCTGCTGGCACC 0.617000 5 14 0 0 0.000602 0 0 NBEA 26960 broad.mit.edu 37 13 36124641 36124641 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:36124641G>A ENST00000540320.1 + 42 7147 c.6613G>A c.(6613-6615)Gga>Aga p.G2205R NBEA_ENST00000400445.3_Missense_Mutation_p.G2205R|NBEA_ENST00000379939.2_Missense_Mutation_p.G2202R|NBEA_ENST00000310336.4_Missense_Mutation_p.G2205R|NBEA_ENST00000537702.1_5'UTR Q8NFP9 NBEA_HUMAN neurobeachin 2205 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GGGACTTCACGGAAAATGGAT 0.373000 10 26 0 0 0.001368 0 0 DGKB 1607 broad.mit.edu 37 7 14378178 14378178 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:14378178G>A ENST00000403951.2 - 23 2506 c.2087C>T c.(2086-2088)aCc>aTc p.T696I DGKB_ENST00000399322.3_Missense_Mutation_p.T696I|DGKB_ENST00000402815.1_Missense_Mutation_p.T695I|DGKB_ENST00000258767.5_Missense_Mutation_p.T696I|DGKB_ENST00000406247.3_Missense_Mutation_p.T696I|DGKB_ENST00000407950.1_Missense_Mutation_p.T688I|DGKB_ENST00000444700.2_Missense_Mutation_p.T677I|DGKB_ENST00000403963.1_5'UTR Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 696 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) ATCTGTGACGGTGGTCCTTTT 0.393000 136 99 0 0 0.003610 0 0 GABRB3 2562 broad.mit.edu 37 15 26793153 26793153 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:26793153C>T ENST00000541819.2 - 10 1479 c.1377G>A c.(1375-1377)agG>agA p.R459R GABRB3_ENST00000545868.1_Silent_p.R318R|GABRB3_ENST00000311550.5_Silent_p.R403R|GABRB3_ENST00000299267.4_Silent_p.R403R|GABRB3_ENST00000400188.3_Silent_p.R332R P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 403 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGCTCTGTTTCCTGTACTGGA 0.512000 33 32 0 0 0.003755 0 0 CD2 914 broad.mit.edu 37 1 117307122 117307122 + Missense_Mutation SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:117307122C>G ENST00000369478.3 + 4 738 c.630C>G c.(628-630)atC>atG p.I210M NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 210 blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) GTCTGGACATCTATCTCATCA 0.507000 17 27 0 0 0.001523 0 0 NPY5R 4889 broad.mit.edu 37 4 164271429 164271429 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:164271429G>T ENST00000515560.1 + 4 1526 c.4G>T c.(4-6)Gat>Tat p.D2Y NPY5R_ENST00000338566.3_Missense_Mutation_p.D2Y|NPY5R_ENST00000506953.1_Missense_Mutation_p.D2Y Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 2 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) CTATAATATGGATTTAGAGCT 0.348000 13 27 7.03913e-09 1.13939e-08 0.001368 1 0 CDK5RAP3 80279 broad.mit.edu 37 17 46056265 46056265 + Missense_Mutation SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:46056265C>G ENST00000536708.2 + 11 1243 c.1134C>G c.(1132-1134)ttC>ttG p.F378L CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.F353L NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 353 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 GGAATCAGTTCCTTGATGAGC 0.557000 OREG0024508 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 54 0 0 0.005524 0 0 LAD1 3898 broad.mit.edu 37 1 201356245 201356245 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:201356245C>T ENST00000391967.2 - 3 545 c.244G>A c.(244-246)Gac>Aac p.D82N LAD1_ENST00000367313.3_Missense_Mutation_p.D96N NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 82 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 ATGTCCTCGTCCTCATCTTTG 0.612000 53 28 0 0 0.003610 0 0 TOP3A 7156 broad.mit.edu 37 17 18196150 18196150 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:18196150G>A ENST00000321105.5 - 11 1304 c.1090C>T c.(1090-1092)Cga>Tga p.R364* TOP3A_ENST00000542570.1_Nonsense_Mutation_p.R269*|TOP3A_ENST00000540524.1_Intron NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 364 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 GTTTCTGTTCGGGGATAGCTG 0.468000 18 42 0 0 0.007413 0 0 KCNA6 3742 broad.mit.edu 37 12 4920691 4920691 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:4920691G>A ENST00000433855.1 + 1 2350 c.1484G>A c.(1483-1485)gGa>gAa p.G495E KCNA6_ENST00000280684.3_Missense_Mutation_p.G495E NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 495 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 ACTGACAACGGACTTGGCAAG 0.592000 HNSCC(72;0.22) 8 35 0 0 0.003080 0 0 DNAH7 56171 broad.mit.edu 37 2 196602810 196602810 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:196602810C>T ENST00000312428.6 - 65 12010 c.11910G>A c.(11908-11910)cgG>cgA p.R3970R DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Silent_p.R453R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3970 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CATAACTTGGCCGTTTTGGTA 0.428000 7 23 0 0 0.004482 0 0 ALDH3B2 222 broad.mit.edu 37 11 67433642 67433642 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:67433642C>T ENST00000349015.3 - 6 708 c.270G>A c.(268-270)caG>caA p.Q90Q ALDH3B2_ENST00000530069.1_Silent_p.Q90Q NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 90 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) GCCCTGTCTCCTGGGGTCCGC 0.657000 27 63 0 0 0.002445 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203798671 203798671 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:203798671C>T ENST00000545588.1 + 5 4218 c.391C>T c.(391-393)Cct>Tct p.P131S ZC3H11A_ENST00000367214.1_Missense_Mutation_p.P131S|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.P131S|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.P131S|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.P131S NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 131 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CCAGTCCAATCCTTCCCCTCA 0.483000 25 113 0 0 0.003954 0 0 VWF 7450 broad.mit.edu 37 12 6103062 6103062 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:6103062C>T ENST00000261405.5 - 37 6818 c.6564G>A c.(6562-6564)ggG>ggA p.G2188G NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2188 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CAACGCAGACCCCGTTGGTCC 0.552000 4 41 0 0 0.000602 0 0 ACAP2 23527 broad.mit.edu 37 3 195063202 195063202 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:195063202G>A ENST00000326793.6 - 6 756 c.526C>T c.(526-528)Cag>Tag p.Q176* NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 176 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 CTATATACCTGAAGCACATAA 0.368000 12 41 0 0 0.001368 0 0 RASL12 51285 broad.mit.edu 37 15 65351754 65351754 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:65351754C>T ENST00000220062.4 - 3 439 c.163G>A c.(163-165)Gac>Aac p.D55N RASL12_ENST00000434605.2_Missense_Mutation_p.D44N|RASL12_ENST00000421977.3_Missense_Mutation_p.D36N NM_016563.2 NP_057647.1 Q9NYN1 RASLC_HUMAN RAS-like, family 12 55 small GTPase mediated signal transduction membrane GTP binding|GTPase activity lung(1)|ovary(1)|skin(1)|urinary_tract(1) 4 CTGTAGGTGTCCTCTACAACA 0.552000 17 70 0 0 0.001882 0 0 PRDM9 56979 broad.mit.edu 37 5 23527689 23527689 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:23527689C>T ENST00000296682.3 + 11 2674 c.2492C>T c.(2491-2493)cCc>cTc p.P831L NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 831 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGGGAGAAGCCCTATGTCTGC 0.587000 HNSCC(3;0.000094) 27 99 0 0 0.007291 0 0 ACACA 31 broad.mit.edu 37 17 35620782 35620782 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:35620782G>A ENST00000353139.5 - 11 1616 c.1135C>T c.(1135-1137)Cct>Tct p.P379S ACACA_ENST00000394406.2_Missense_Mutation_p.P342S|ACACA_ENST00000335166.5_Missense_Mutation_p.P264S|ACACA_ENST00000360679.3_Missense_Mutation_p.P284S NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 342 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGAGATCCAGGAACTTCAGCT 0.363000 21 80 0 0 0.001523 0 0 FLT3LG 2323 broad.mit.edu 37 19 49983820 49983820 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:49983820C>T ENST00000595510.1 + 7 727 c.426C>T c.(424-426)gtC>gtT p.V142V CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Silent_p.V206V|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000594009.1_Silent_p.V224V|FLT3LG_ENST00000204637.2_Silent_p.V142V|FLT3LG_ENST00000597551.1_Silent_p.V224V|FLT3LG_ENST00000600429.1_Silent_p.V224V P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 224 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) TGCCCCCCGTCCCCAGTCCCC 0.667000 3 10 0 0 0.000248 0 0 C2CD3 26005 broad.mit.edu 37 11 73785570 73785570 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:73785570G>A ENST00000334126.7 - 24 4905 c.4679C>T c.(4678-4680)tCt>tTt p.S1560F C2CD3_ENST00000313663.7_Missense_Mutation_p.S1560F Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1560 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TGAGGAAAGAGAGGAAAGAAC 0.507000 9 15 0 0 0.000673 0 0 PFKFB1 5207 broad.mit.edu 37 X 54971908 54971908 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:54971908G>A ENST00000375006.3 - 10 1132 c.1062C>T c.(1060-1062)gaC>gaT p.D354D PFKFB1_ENST00000374992.2_Silent_p.D154D|PFKFB1_ENST00000545676.1_Silent_p.D289D NM_002625.2 NP_002616.2 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 354 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 ATTTATCTTGGTCTCGCAGTG 0.478000 9 18 0 0 0.000673 0 0 ITIH1 3697 broad.mit.edu 37 3 52816259 52816259 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:52816259C>T ENST00000273283.2 + 8 930 c.906C>T c.(904-906)tcC>tcT p.S302S ITIH1_ENST00000542827.1_Silent_p.S302S|ITIH1_ENST00000540715.1_Silent_p.S160S|ITIH1_ENST00000537050.1_Silent_p.S14S|ITIH1_ENST00000487686.1_3'UTR NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 302 VWFA. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TCAGTGGCTCCATGAGAGGCC 0.498000 18 25 0 0 0.006122 0 0 UROC1 131669 broad.mit.edu 37 3 126226630 126226630 + Missense_Mutation SNP G G A rs116272550 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:126226630G>A ENST00000290868.2 - 6 610 c.557C>T c.(556-558)tCc>tTc p.S186F UROC1_ENST00000383579.3_Missense_Mutation_p.S186F NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 186 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CGTCCGGGAGGAGTAGTTGGG 0.557000 24 55 0 0 0.001786 0 0 OR1S2 219958 broad.mit.edu 37 11 57970737 57970737 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:57970737C>T ENST00000302592.6 - 1 916 c.917G>A c.(916-918)aGg>aAg p.R306K NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) ATCCTTATTCCTCAAGCTGTA 0.438000 71 56 0 0 0.003610 0 0 PPFIA4 8497 broad.mit.edu 37 1 203028942 203028942 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:203028942C>T ENST00000367240.2 + 20 3010 c.2483C>T c.(2482-2484)gCc>gTc p.A828V PPFIA4_ENST00000272198.6_Missense_Mutation_p.A343V|PPFIA4_ENST00000295706.4_Missense_Mutation_p.A343V|PPFIA4_ENST00000447715.2_Missense_Mutation_p.A827V|PPFIA4_ENST00000414050.2_Missense_Mutation_p.A556V|PPFIA4_ENST00000599966.1_Missense_Mutation_p.A343V O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 343 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 ATGCCCTTTGCCCAGTGGGAT 0.537000 11 25 0 0 0.000673 0 0 HELB 92797 broad.mit.edu 37 12 66707833 66707833 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:66707833C>T ENST00000247815.4 + 5 1807 c.1748C>T c.(1747-1749)tCg>tTg p.S583L NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 583 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AAATTTTCTTCGGTTAGAGTT 0.378000 36 311 0 0 0.004878 0 0 FAM47B 170062 broad.mit.edu 37 X 34962641 34962641 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:34962641G>A ENST00000329357.5 + 1 1729 c.1693G>A c.(1693-1695)Gaa>Aaa p.E565K NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 565 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AAGAAGTGATGAACCTTTGAT 0.478000 35 61 0 0 0.004289 0 0 BMS1 9790 broad.mit.edu 37 10 43285863 43285863 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:43285863G>A ENST00000374518.4 + 5 603 c.540G>A c.(538-540)atG>atA p.M180I NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 180 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTAAAATTATGGGAGTTCTCA 0.413000 19 51 0 0 0.003954 0 0 MMP19 4327 broad.mit.edu 37 12 56232377 56232377 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:56232377G>A ENST00000409200.3 - 5 767 c.662C>T c.(661-663)cCc>cTc p.P221L MMP19_ENST00000322569.4_Intron|MMP19_ENST00000548629.1_Intron Q99542 MMP19_HUMAN matrix metallopeptidase 19 0 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 AGCCTGGAGGGGAGGGGCCTC 0.612000 15 131 0 0 0.004007 0 0 MYH7 4625 broad.mit.edu 37 14 23883043 23883043 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:23883043C>T ENST00000355349.3 - 39 5877 c.5715G>A c.(5713-5715)gaG>gaA p.E1905E NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1905 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCTCCTCTGCCTCATCCAGCT 0.627000 41 54 0 0 0.003610 0 0 SALL3 27164 broad.mit.edu 37 18 76754300 76754300 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:76754300C>T ENST00000536229.3 + 1 2619 c.1910C>T c.(1909-1911)cCg>cTg p.P637L SALL3_ENST00000537592.2_Missense_Mutation_p.P770L|SALL3_ENST00000575389.2_Missense_Mutation_p.P770L Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 770 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCCAACACGCCGCTGCCGGAG 0.627000 6 27 0 0 0.001984 0 0 PHF12 57649 broad.mit.edu 37 17 27233293 27233293 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:27233293C>A ENST00000332830.4 - 15 3733 c.2923G>T c.(2923-2925)Gat>Tat p.D975Y PHF12_ENST00000577226.1_3'UTR NM_001033561.1 NP_001028733.1 Q96QT6 PHF12_HUMAN PHD finger protein 12 975 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) AGGCTGGCATCGCCTTTGGGC 0.597000 20 15 3.5997e-14 5.85083e-14 0.002299 1 0 CALCR 799 broad.mit.edu 37 7 93055756 93055756 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:93055756T>A ENST00000359558.2 - 16 1738 c.1439A>T c.(1438-1440)gAg>gTg p.E480V CALCR_ENST00000421592.1_Missense_Mutation_p.E462V|CALCR_ENST00000360249.4_Missense_Mutation_p.E462V|CALCR_ENST00000426151.1_Missense_Mutation_p.E446V|CALCR_ENST00000394441.1_Missense_Mutation_p.E446V NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 462 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) ATTCCTCAGCTCCTGATGGCA 0.557000 43 156 0 0 0.003610 0 0 CD274 29126 broad.mit.edu 37 9 5463090 5463090 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:5463090G>A ENST00000381577.3 + 4 737 c.651G>A c.(649-651)gaG>gaA p.E217E CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Silent_p.E103E NM_014143.3 NP_054862.1 Q9NZQ7 PD1L1_HUMAN CD274 molecule 217 Ig-like C2-type. cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation endomembrane system|integral to membrane receptor activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111) TAGATCCTGAGGAAAACCATA 0.413000 T CIITA """PMBL, Hodgkin Lymphona, """ 19 10 0 0 0.001882 0 0 ABCA7 10347 broad.mit.edu 37 19 1056159 1056159 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:1056159C>T ENST00000263094.6 + 32 4564 c.4333C>T c.(4333-4335)Ccc>Tcc p.P1445S ABCA7_ENST00000433129.1_Missense_Mutation_p.P1445S|ABCA7_ENST00000435683.2_Missense_Mutation_p.P1307S NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1445 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGCTGAGTCCCCTGCCTGG 0.672000 14 27 0 0 0.001855 0 0 DNAH1 25981 broad.mit.edu 37 3 52384040 52384040 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:52384040C>T ENST00000420323.2 + 15 2823 c.2562C>T c.(2560-2562)atC>atT p.I854I NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 854 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCCGCAAGATCTATGAGAAGC 0.632000 4 28 0 0 0.001984 0 0 ZNF786 136051 broad.mit.edu 37 7 148767554 148767554 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:148767554G>A ENST00000316286.9 - 3 2324 c.2052C>T c.(2050-2052)ctC>ctT p.L684L ZNF786_ENST00000491431.1_Silent_p.L770L|ZNF786_ENST00000451334.3_Silent_p.L733L Q8N393 ZN786_HUMAN zinc finger protein 786 770 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ACAGTTGGCTGAGCCTTTTCT 0.483000 450 36 0 0 0.003610 0 0 NEURL4 84461 broad.mit.edu 37 17 7230825 7230825 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7230825G>A ENST00000399464.2 - 2 676 c.661C>T c.(661-663)Ccc>Tcc p.P221S NEURL4_ENST00000315614.7_Missense_Mutation_p.P221S|NEURL4_ENST00000570460.1_Missense_Mutation_p.P221S NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGCTCGAGGGGAGGTGTGGGG 0.627000 13 44 0 0 0.001855 0 0 HDAC9 9734 broad.mit.edu 37 7 18767315 18767315 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:18767315C>T ENST00000406451.3 + 13 1985 c.1835C>T c.(1834-1836)tCc>tTc p.S612F HDAC9_ENST00000432645.2_Missense_Mutation_p.S612F|HDAC9_ENST00000441542.2_Missense_Mutation_p.S615F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S571F NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 612 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) ACTCACTCTTCCCCTGCTGCC 0.587000 14 16 0 0 0.002450 0 0 TPTE 7179 broad.mit.edu 37 21 10920107 10920107 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:10920107G>A ENST00000298232.7 - 18 1460 c.1093C>T c.(1093-1095)Cag>Tag p.Q365* TPTE_ENST00000361285.4_Nonsense_Mutation_p.Q383*|TPTE_ENST00000342420.5_Nonsense_Mutation_p.Q345*|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 383 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.Q365*(1)|p.Q383*(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTACTCCCTGAAATTTTTCG 0.378000 8 60 0 0 0.004482 0 0 ITK 3702 broad.mit.edu 37 5 156671372 156671372 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:156671372G>A ENST00000422843.3 + 13 1485 c.1333G>A c.(1333-1335)Gat>Aat p.D445N ITK_ENST00000519749.1_3'UTR NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 445 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGCCTGTCAGATTATCTACG 0.572000 T SYK peripheral T-cell lymphoma 98 438 0 0 0.003610 0 0 SLA 6503 broad.mit.edu 37 8 134060148 134060148 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:134060148C>T ENST00000338087.5 - 6 1098 c.279G>A c.(277-279)aaG>aaA p.K93K SLA_ENST00000395352.3_Silent_p.K110K|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_5'UTR|SLA_ENST00000427060.2_Silent_p.K133K|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Silent_p.K110K NM_001045556.2 NP_001039021.1 Q13239 SLAP1_HUMAN Src-like-adaptor 93 SH2. endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) GCTCCTCGGCCTTGTCTCTGC 0.587000 17 37 0 0 0.007413 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786550 19786550 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:19786550C>T ENST00000341998.2 - 1 376 c.315G>A c.(313-315)aaG>aaA p.K105K SLC24A2_ENST00000286344.3_Silent_p.K105K NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 105 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) ACTCGCCTTCCTTAGAAAGAG 0.453000 28 18 0 0 0.001786 0 0 ZNF502 91392 broad.mit.edu 37 3 44763775 44763775 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:44763775A>T ENST00000296091.4 + 4 1722 c.1466A>T c.(1465-1467)aAg>aTg p.K489M ZNF502_ENST00000449836.1_Missense_Mutation_p.K489M|ZNF502_ENST00000436624.2_Missense_Mutation_p.K489M NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) ACTGGTGAGAAGCTCTATAAA 0.398000 9 21 0 0 0.006214 0 0 C18orf54 162681 broad.mit.edu 37 18 51888159 51888159 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:51888159C>T ENST00000300091.5 + 3 762 c.430C>T c.(430-432)Ccg>Tcg p.P144S C18orf54_ENST00000578138.1_Intron|C18orf54_ENST00000382911.4_Missense_Mutation_p.P144S NM_173529.4 NP_775800.3 Q8IYD9 CR054_HUMAN chromosome 18 open reading frame 54 144 extracellular region breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) TTATGTTGGACCGAGTCACCG 0.418000 6 29 0 0 0.003080 0 0 ADCK4 79934 broad.mit.edu 37 19 41219975 41219975 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:41219975C>T ENST00000324464.3 - 4 587 c.286G>A c.(286-288)Ggg>Agg p.G96R ADCK4_ENST00000243583.6_Missense_Mutation_p.G96R|ADCK4_ENST00000450541.1_Missense_Mutation_p.G96R NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 96 integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) CACCTACCCCCAAAGTTGGCC 0.537000 27 70 0 0 0.007291 0 0 SIRT4 23409 broad.mit.edu 37 12 120741694 120741694 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:120741694C>T ENST00000202967.4 + 2 389 c.330C>T c.(328-330)ttC>ttT p.F110F SIRT4_ENST00000537892.1_3'UTR NM_012240.2 NP_036372.1 Q9Y6E7 SIRT4_HUMAN sirtuin 4 110 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGAGAAACTTCGTAGGCTGGC 0.572000 11 8 0 0 0.000978 0 0 ACPP 55 broad.mit.edu 37 3 132071617 132071617 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:132071617C>T ENST00000336375.5 + 9 1008 c.918C>T c.(916-918)ctC>ctT p.L306L ACPP_ENST00000351273.7_Silent_p.L306L|ACPP_ENST00000475741.1_Silent_p.L273L NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 306 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 ACAACGGACTCCTTCCTCCCT 0.433000 30 42 0 0 0.003271 0 0 ISLR 3671 broad.mit.edu 37 15 74468300 74468300 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:74468300G>A ENST00000249842.3 + 2 1458 c.1101G>A c.(1099-1101)aaG>aaA p.K367K ISLR_ENST00000395118.1_Silent_p.K367K|RP11-665J16.1_ENST00000561647.1_RNA NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 367 cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 TTGAGGGAAAGGGCTGCTATA 0.622000 15 30 0 0 0.002450 0 0 MPP6 51678 broad.mit.edu 37 7 24690151 24690151 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:24690151C>A ENST00000396475.2 + 6 770 c.471C>A c.(469-471)atC>atA p.I157I MPP6_ENST00000222644.4_Silent_p.I157I|MPP6_ENST00000409761.1_Silent_p.I45I NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 157 PDZ. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TTGCCCGAATCCTCCATGGGG 0.358000 28 57 1.22384e-17 1.99307e-17 0.002836 1 0 LHFP 10186 broad.mit.edu 37 13 40175211 40175211 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:40175211C>T ENST00000379589.3 - 2 605 c.143G>A c.(142-144)cGg>cAg p.R48Q NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 48 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) TGAGCACCTCCGGAAGGTACC 0.567000 T HMGA2 lipoma 29 93 0 0 0.003271 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545659 234545659 + Missense_Mutation SNP C C T rs144666294 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:234545659C>T ENST00000344644.5 + 1 560 c.491C>T c.(490-492)cCc>cTc p.P164L UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.P164L NM_019075.2 NP_061948.1 p.P164L(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TTCTCCCTCCCCTCTGTGGTC 0.433000 36 73 0 0 0.004289 0 0 MAP10 54627 broad.mit.edu 37 1 232943896 232943896 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:232943896C>T ENST00000418460.1 + 1 3254 c.3127C>T c.(3127-3129)Cca>Tca p.P1043S NM_019090.2 NP_061963.2 microtubule-associated protein 10 AAATAAACTTCCAGGATACAC 0.289000 21 9 0 0 0.001882 0 0 RYR1 6261 broad.mit.edu 37 19 39077171 39077171 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:39077171C>T ENST00000355481.4 + 104 15092 c.14961C>T c.(14959-14961)ttC>ttT p.F4987F RYR1_ENST00000360985.3_Silent_p.F4987F|RYR1_ENST00000359596.3_Silent_p.F4992F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4992 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCAGGTTTTTCCTGATGTATT 0.448000 16 48 0 0 0.001216 0 0 HEXA 3073 broad.mit.edu 37 15 72642919 72642919 + Missense_Mutation SNP G G A rs138058578 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:72642919G>A ENST00000268097.5 - 7 1248 c.745C>T c.(745-747)Cgg>Tgg p.R249W RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.R249W|HEXA_ENST00000566304.1_Missense_Mutation_p.R260W|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.R76W|HEXA_ENST00000457859.2_Missense_Mutation_p.R57W NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 249 R -> W (in HEXA pseudodeficiency). cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 CGGATACCCCGGAGCCGTGCG 0.537000 37 56 0 0 0.003755 0 0 ADCY8 114 broad.mit.edu 37 8 131861930 131861930 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:131861930C>T ENST00000286355.5 - 10 4422 c.2330G>A c.(2329-2331)tGg>tAg p.W777* ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 777 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTCATTAATCCAACAGCAAGT 0.448000 HNSCC(32;0.087) 19 14 0 0 0.001216 0 0 ITIH1 3697 broad.mit.edu 37 3 52821000 52821000 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:52821000C>T ENST00000273283.2 + 14 1797 c.1773C>T c.(1771-1773)tcC>tcT p.S591S ITIH1_ENST00000542827.1_Silent_p.S591S|ITIH1_ENST00000540715.1_Silent_p.S449S|ITIH1_ENST00000537050.1_Silent_p.S303S NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 591 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) ACCTGTCATCCCAGGCCCTGC 0.612000 7 25 0 0 0.004482 0 0 SLC5A2 6524 broad.mit.edu 37 16 31499425 31499425 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:31499425G>T ENST00000330498.3 + 8 971 c.952G>T c.(952-954)Ggg>Tgg p.G318W AC026471.6_ENST00000565137.1_RNA NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 318 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 CATCCTGTGTGGGTACCTGAA 0.632000 6 122 8.12818e-05 0.000130742 0.001984 1 0 ANKHD1 54882 broad.mit.edu 37 5 139905617 139905617 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:139905617C>T ENST00000297183.6 + 26 4653 c.4529C>T c.(4528-4530)aCc>aTc p.T1510I ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T1510I|ANKHD1_ENST00000360839.2_Missense_Mutation_p.T1510I NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTAGTGCAACCACCACCACT 0.413000 65 30 0 0 0.003610 0 0 MYO1E 4643 broad.mit.edu 37 15 59470628 59470628 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:59470628C>T ENST00000288235.4 - 19 2412 c.2013G>A c.(2011-2013)ctG>ctA p.L671L NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 671 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) TACTCCTCCCCAGCTGGAACT 0.622000 7 28 0 0 0.001984 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525627 176525627 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:176525627C>T ENST00000367662.3 + 2 1333 c.169C>T c.(169-171)Cga>Tga p.R57* PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.R57* NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 57 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGCCAAGGTTCGAAGACCCAG 0.567000 78 30 0 0 0.003610 0 0 SEZ6L 23544 broad.mit.edu 37 22 26706777 26706777 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:26706777C>T ENST00000529632.2 + 7 1852 c.1656C>T c.(1654-1656)gcC>gcT p.A552A SEZ6L_ENST00000404234.3_Silent_p.A552A|SEZ6L_ENST00000402979.1_Silent_p.A325A|SEZ6L_ENST00000360929.3_Silent_p.A552A|SEZ6L_ENST00000248933.6_Silent_p.A552A|SEZ6L_ENST00000343706.4_Silent_p.A552A|SEZ6L_ENST00000403121.1_Silent_p.A325A NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 552 CUB 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CCCGGGCGGCCTCCACCTTCA 0.602000 95 14 0 0 0.003610 0 0 DMBT1 1755 broad.mit.edu 37 10 124377615 124377615 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:124377615C>T ENST00000338354.3 + 38 4693 c.4587C>T c.(4585-4587)tcC>tcT p.S1529S DMBT1_ENST00000368909.3_Silent_p.S1529S|DMBT1_ENST00000359586.6_Silent_p.S380S|DMBT1_ENST00000368956.2_Silent_p.S901S|DMBT1_ENST00000344338.3_Silent_p.S1519S|DMBT1_ENST00000368955.3_Silent_p.S1519S|DMBT1_ENST00000330163.4_Silent_p.S901S Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1529 SRCR 12. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ACCAAGGCTCCTGGGGCACCG 0.587000 85 278 0 0 0.003610 0 0 NFE2L1 4779 broad.mit.edu 37 17 46134780 46134780 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:46134780C>T ENST00000362042.3 + 5 1504 c.888C>T c.(886-888)ctC>ctT p.L296L NFE2L1_ENST00000585291.1_Silent_p.L266L|NFE2L1_ENST00000361665.3_Silent_p.L285L|NFE2L1_ENST00000357480.5_Silent_p.L266L|NFE2L1_ENST00000536222.1_Silent_p.L140L|NFE2L1_ENST00000582155.1_Silent_p.L108L|NFE2L1_ENST00000583378.1_Silent_p.L97L NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 296 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AAAACAACCTCTTGTCTCCTC 0.483000 22 93 0 0 0.002780 0 0 RERGL 79785 broad.mit.edu 37 12 18237579 18237579 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:18237579G>A ENST00000229002.2 - 5 413 c.207C>T c.(205-207)tcC>tcT p.S69S RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Intron|RERGL_ENST00000538724.1_Silent_p.S68S NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 69 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 CACTTGTGAGGGAGAATTTTG 0.378000 42 18 0 0 0.003214 0 0 STXBP4 252983 broad.mit.edu 37 17 53078208 53078208 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:53078208A>T ENST00000376352.2 + 7 745 c.538A>T c.(538-540)Act>Tct p.T180S STXBP4_ENST00000434978.2_Missense_Mutation_p.T180S|STXBP4_ENST00000405898.1_Missense_Mutation_p.T180S|STXBP4_ENST00000398391.2_Missense_Mutation_p.T105S|STXBP4_ENST00000299341.4_Missense_Mutation_p.T105S NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 180 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 GATTCCAATTACTTCAGAAAA 0.328000 50 52 0 0 0.003610 0 0 AGO3 192669 broad.mit.edu 37 1 36437823 36437823 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:36437823C>T ENST00000373191.4 + 4 860 c.511C>T c.(511-513)Ccc>Tcc p.P171S AGO3_ENST00000397828.2_Missense_Mutation_p.P171S|AGO3_ENST00000324350.5_Missense_Mutation_p.P171S|AGO3_ENST00000246314.6_5'UTR NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 ACGACATCTGCCCTCCATGAA 0.453000 3 15 0 0 0.004672 0 0 COL4A2 1284 broad.mit.edu 37 13 111102714 111102714 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:111102714C>T ENST00000360467.5 + 20 1558 c.1252C>T c.(1252-1254)Cct>Tct p.P418S NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 418 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CCCCGGCATCCCTGCGCTCTA 0.647000 16 11 0 0 0.004007 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318927 21318927 + Silent SNP C C T rs142326096 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:21318927C>T ENST00000583088.1 + 3 1168 c.273C>T c.(271-273)ttC>ttT p.F91F KCNJ12_ENST00000331718.5_Silent_p.F91F NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CGCTGGCCTTCCTTGCCTCCT 0.622000 Prostate(3;0.18) 6 22 0 0 0.003080 0 0 RBM22 55696 broad.mit.edu 37 5 150072586 150072586 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:150072586G>A ENST00000199814.4 - 10 1124 c.1003C>T c.(1003-1005)Ctt>Ttt p.L335F RBM22_ENST00000540000.1_Missense_Mutation_p.L286F|RBM22_ENST00000447771.2_Missense_Mutation_p.L286F NM_018047.2 NP_060517.1 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 335 Pro-rich. protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGAGGAGGAAGAGCTGGAGGA 0.517000 19 46 0 0 0.002780 0 0 AFM 173 broad.mit.edu 37 4 74367531 74367531 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:74367531G>A ENST00000226355.3 + 13 1767 c.1674G>A c.(1672-1674)aaG>aaA p.K558K NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 558 Albumin 3. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGAAGCTGAAGCATGAACTCA 0.388000 4 9 0 0 0.000248 0 0 MUS81 80198 broad.mit.edu 37 11 65631085 65631085 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:65631085C>T ENST00000308110.4 + 9 1203 c.854C>T c.(853-855)cCg>cTg p.P285L MUS81_ENST00000533035.1_Missense_Mutation_p.P210L NM_025128.4 NP_079404.3 Q96NY9 MUS81_HUMAN MUS81 structure-specific endonuclease subunit 285 ERCC4. DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 13 READ - Rectum adenocarcinoma(159;0.166) GGGCACAGGCCGGAGCTGCTC 0.632000 Homologous recombination 11 3 0 0 0.000978 0 0 SLC34A1 6569 broad.mit.edu 37 5 176813035 176813035 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176813035G>A ENST00000324417.5 + 3 248 c.157G>A c.(157-159)Ggc>Agc p.G53S SLC34A1_ENST00000512593.1_Missense_Mutation_p.G53S NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 53 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCCAGCCTGGGCCCTGTGGC 0.687000 13 68 0 0 0.002450 0 0 CRB2 286204 broad.mit.edu 37 9 126132826 126132826 + Nonsense_Mutation SNP G G A rs144803819 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:126132826G>A ENST00000373631.3 + 7 1495 c.1494G>A c.(1492-1494)tgG>tgA p.W498* CRB2_ENST00000359999.3_Nonsense_Mutation_p.W498*|CRB2_ENST00000373629.2_Nonsense_Mutation_p.W166* NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 498 Laminin G-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 CCACACTCTGGAGCTACAGCA 0.602000 25 20 0 0 0.002096 0 0 OTOA 146183 broad.mit.edu 37 16 21698938 21698938 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:21698938C>T ENST00000388958.3 + 7 605 c.604C>T c.(604-606)Cgg>Tgg p.R202W OTOA_ENST00000388956.4_Missense_Mutation_p.R123W|OTOA_ENST00000286149.4_Missense_Mutation_p.R202W NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 202 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GCGGCTCCCTCGGGACCTGCG 0.542000 15 10 0 0 0.004007 0 0 OR10X1 128367 broad.mit.edu 37 1 158549150 158549150 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158549150G>A ENST00000368150.1 - 1 539 c.540C>T c.(538-540)ttC>ttT p.F180F NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 180 F -> L (in dbSNP:rs16840360). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AAGAGTCCCTGAATATCAGTG 0.443000 7 49 0 0 0.004482 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375101 113375101 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:113375101C>T ENST00000316407.4 - 7 5838 c.5428G>A c.(5428-5430)Gac>Aac p.D1810N KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.D1810N NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1810 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TTTTCACTGTCCCTTGATGGA 0.463000 112 84 0 0 0.003610 0 0 DEFB119 245932 broad.mit.edu 37 20 29966157 29966157 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:29966157G>A ENST00000339144.3 - 2 205 c.99C>T c.(97-99)gcC>gcT p.A33A DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000376321.3_Intron Q8N690 DB119_HUMAN defensin, beta 119 0 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) ccacccacctggcagtatcca 0.512000 62 122 0 0 0.003610 0 0 CDHR2 54825 broad.mit.edu 37 5 176003066 176003066 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176003066C>T ENST00000510636.1 + 12 1348 c.1074C>T c.(1072-1074)ctC>ctT p.L358L CDHR2_ENST00000506348.1_Silent_p.L358L|CDHR2_ENST00000261944.5_Silent_p.L358L NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 358 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 ACTGCAGCCTCCCAGCCTGCA 0.577000 41 19 0 0 0.001951 0 0 MUC16 94025 broad.mit.edu 37 19 9076809 9076809 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9076809C>T ENST00000397910.4 - 3 10840 c.10637G>A c.(10636-10638)gGa>gAa p.G3546E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3547 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGAGTTGGTTCCCATGGTGGT 0.542000 22 111 0 0 0.002780 0 0 FRY 10129 broad.mit.edu 37 13 32841337 32841337 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:32841337C>T ENST00000380250.3 + 55 8473 c.7977C>T c.(7975-7977)ccC>ccT p.P2659P FRY_ENST00000542859.1_Silent_p.P29P NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2659 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GAGTCTCTCCCCCTCCCTCGC 0.522000 28 53 0 0 0.002096 0 0 SSX7 280658 broad.mit.edu 37 X 52682029 52682029 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:52682029G>A ENST00000298181.5 - 3 233 c.75C>T c.(73-75)ttC>ttT p.F25F NM_173358.2 NP_775494.1 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 25 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) CAATATCATCGAAGGACTAGG 0.413000 55 6 0 0 0.003610 0 0 SLC22A14 9389 broad.mit.edu 37 3 38350536 38350536 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:38350536C>T ENST00000273173.4 + 4 958 c.867C>T c.(865-867)atC>atT p.I289I SLC22A14_ENST00000448498.1_Silent_p.I289I NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 289 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) TGACAGGGATCGCCTACAGTC 0.567000 26 74 0 0 0.004878 0 0 HDAC6 10013 broad.mit.edu 37 X 48681693 48681693 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:48681693C>T ENST00000334136.5 + 25 3062 c.2884C>T c.(2884-2886)Ctg>Ttg p.L962L HDAC6_ENST00000376619.2_Silent_p.L962L|HDAC6_ENST00000444343.2_Silent_p.L976L Q9UBN7 HDAC6_HUMAN histone deacetylase 6 962 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) AGGAGCCATTCTGGACCAGAC 0.642000 7 6 0 0 0.004482 0 0 KIAA1468 57614 broad.mit.edu 37 18 59855179 59855179 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:59855179G>T ENST00000256858.6 + 1 689 c.441G>T c.(439-441)atG>atT p.M147I KIAA1468_ENST00000398130.2_Missense_Mutation_p.M147I Q9P260 K1468_HUMAN KIAA1468 147 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) CGCCGGGGATGGGGGCGCCAG 0.672000 OREG0025032 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 9 0.00116845 0.00187356 0.001168 1 0 GTF2I 2969 broad.mit.edu 37 7 74146890 74146890 + Silent SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:74146890T>A ENST00000324896.4 + 15 1580 c.1191T>A c.(1189-1191)ctT>ctA p.L397L GTF2I_ENST00000346152.4_Silent_p.L376L|GTF2I_ENST00000416070.1_Silent_p.L356L|GTF2I_ENST00000353920.4_Silent_p.L377L NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 397 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 TTGAAGATCTTTATGTAGAAG 0.423000 70 58 0 0 0.003610 0 0 TNRC6C 57690 broad.mit.edu 37 17 76094559 76094559 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:76094559C>T ENST00000335749.4 + 18 5119 c.4550C>T c.(4549-4551)cCc>cTc p.P1517L TNRC6C_ENST00000541771.1_Missense_Mutation_p.P1481L|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P1481L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P1517L|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P1517L|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P1481L NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 1481 Sufficient for translational repression when tethered to a target mRNA. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TTAACCAATCCCAAGCCCTCC 0.622000 21 71 0 0 0.001216 0 0 DSG1 1828 broad.mit.edu 37 18 28918289 28918289 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:28918289G>A ENST00000257192.4 + 10 1489 c.1277G>A c.(1276-1278)gGa>gAa p.G426E NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 426 Cadherin 4. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TATGTAATGGGAAATAATCCA 0.303000 26 16 0 0 0.007291 0 0 OR4D10 390197 broad.mit.edu 37 11 59245505 59245505 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:59245505C>T ENST00000530162.1 + 1 660 c.603C>T c.(601-603)tcC>tcT p.S201S NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TAATGATTTCCAACAATGGAC 0.468000 43 27 0 0 0.001951 0 0 HTR1A 3350 broad.mit.edu 37 5 63256645 63256645 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:63256645G>A ENST00000323865.3 - 1 1135 c.902C>T c.(901-903)tCc>tTc p.S301F RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 301 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GTGCTCTTTGGAGTTGCCCAC 0.647000 7 31 0 0 0.003080 0 0 LYST 1130 broad.mit.edu 37 1 235866167 235866167 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:235866167G>A ENST00000389794.3 - 45 10428 c.10254C>T c.(10252-10254)gcC>gcT p.A3418A LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.A3418A Q99698 LYST_HUMAN lysosomal trafficking regulator 3418 BEACH. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGCTCACATGGGCCATGTGGA 0.527000 63 221 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179610515 179610515 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179610515G>A ENST00000360870.5 - 46 16834 c.16612C>T c.(16612-16614)Cgt>Tgt p.R5538C TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9008 Ig-like 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGAGAGCCACGAACTAAGCAC 0.443000 33 35 0 0 0.002836 0 0 TIMD4 91937 broad.mit.edu 37 5 156347490 156347490 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:156347490G>A ENST00000274532.2 - 8 1093 c.1037C>T c.(1036-1038)tCg>tTg p.S346L TIMD4_ENST00000406964.1_Missense_Mutation_p.S48L|TIMD4_ENST00000407087.3_Missense_Mutation_p.S318L NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 346 integral to membrane p.S346L(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGTTTCTGCGAACAATAGGT 0.423000 80 476 0 0 0.003610 0 0 CCT6P1 643253 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 4 22 0.00116845 0.00187356 0.001168 1 0 NETO1 81832 broad.mit.edu 37 18 70423345 70423345 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:70423345G>T ENST00000327305.6 - 8 1563 c.906C>A c.(904-906)aaC>aaA p.N302K NETO1_ENST00000299430.2_Missense_Mutation_p.N301K|NETO1_ENST00000583169.1_Missense_Mutation_p.N302K NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 302 LDL-receptor class A. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TAATACACATGTTACTATGGC 0.363000 16 51 9.16793e-09 1.48361e-08 0.004990 1 0 BCLAF1 9774 broad.mit.edu 37 6 136597445 136597445 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:136597445C>T ENST00000531224.1 - 5 1470 c.1218G>A c.(1216-1218)gaG>gaA p.E406E BCLAF1_ENST00000353331.4_Silent_p.E404E|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Silent_p.E404E|BCLAF1_ENST00000527536.1_Silent_p.E406E|BCLAF1_ENST00000392348.2_Silent_p.E404E NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 406 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTCTATAATCCTCTGTCTCCT 0.428000 77 206 0 0 0.003610 0 0 CCDC71 64925 broad.mit.edu 37 3 49200241 49200241 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:49200241G>A ENST00000321895.6 - 2 1507 c.1401C>T c.(1399-1401)gtC>gtT p.V467V NM_022903.3 NP_075054.3 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 467 endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GAAGGAATCAGACTGCTGAAT 0.562000 4 10 0 0 0.000602 0 0 LPO 4025 broad.mit.edu 37 17 56329578 56329578 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:56329578G>A ENST00000262290.4 + 8 1132 c.816G>A c.(814-816)ggG>ggA p.G272G LPO_ENST00000421678.2_Silent_p.G189G|LPO_ENST00000582328.1_Silent_p.G189G|LPO_ENST00000543544.1_Silent_p.G213G NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 272 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GGACTCAAGGGAAATGCATGC 0.602000 18 48 0 0 0.007413 0 0 FBN3 84467 broad.mit.edu 37 19 8194188 8194188 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:8194188C>T ENST00000600128.1 - 17 2520 c.2106G>A c.(2104-2106)cgG>cgA p.R702R FBN3_ENST00000270509.2_Silent_p.R702R|FBN3_ENST00000601739.1_Silent_p.R702R Q75N90 FBN3_HUMAN fibrillin 3 702 EGF-like 8; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGTAGCTGCCCCGAAGGTTCT 0.612000 13 38 0 0 0.001855 0 0 VSTM2L 128434 broad.mit.edu 37 20 36560175 36560175 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:36560175G>A ENST00000373461.4 + 2 507 c.260G>A c.(259-261)tGg>tAg p.W87* VSTM2L_ENST00000373458.3_Nonsense_Mutation_p.W87*|VSTM2L_ENST00000373459.4_Intron NM_080607.2 NP_542174.1 Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like 87 Ig-like. central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.00878) CACCGGGACTGGACCGACAAG 0.657000 14 54 0 0 0.001855 0 0 GLUD1 2746 broad.mit.edu 37 10 88811610 88811610 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:88811610G>A ENST00000277865.4 - 13 1671 c.1575C>T c.(1573-1575)gcC>gcT p.A525A GLUD1_ENST00000537649.1_Silent_p.A358A|GLUD1_ENST00000544149.1_Silent_p.A392A NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 525 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) TATACTTCATGGCTGTGCGCA 0.458000 47 44 0 0 0.003610 0 0 ACAP3 116983 broad.mit.edu 37 1 1231243 1231243 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:1231243G>A ENST00000354700.5 - 18 1780 c.1578C>T c.(1576-1578)gcC>gcT p.A526A ACAP3_ENST00000353662.3_Silent_p.A484A NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 526 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 GGGCCTCCAGGGCTGGTGCCA 0.652000 13 9 0 0 0.001855 0 0 DOCK2 1794 broad.mit.edu 37 5 169096332 169096332 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:169096332G>A ENST00000256935.8 + 3 248 c.168_splice c.e3+1 p.Q56_splice NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 56 SH3. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAATGTTACAGGTAAGGTCAC 0.423000 85 45 0 0 0.003610 0 0 MYH4 4622 broad.mit.edu 37 17 10354126 10354126 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10354126C>T ENST00000255381.2 - 29 4062 c.3952G>A c.(3952-3954)Gaa>Aaa p.E1318K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1318 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTCTTTAATTCTTCAATCTGT 0.408000 25 60 0 0 0.004656 0 0 TRAV8-1 28685 broad.mit.edu 37 14 22265547 22265547 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:22265547G>A ENST00000390430.2 + 0 89 TGGCCCCGAGGAGAATTTCCA 0.502000 7 6 0 0 0.003080 0 0 FBN1 2200 broad.mit.edu 37 15 48718057 48718057 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:48718057G>A ENST00000316623.5 - 59 7664 c.7209C>T c.(7207-7209)atC>atT p.I2403I NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2403 EGF-like 41; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TGCATTCATCGATATCTGTAA 0.313000 17 40 0 0 0.006122 0 0 ADAM23 8745 broad.mit.edu 37 2 207460812 207460812 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:207460812C>T ENST00000264377.3 + 24 2613 c.2285C>T c.(2284-2286)aCc>aTc p.T762I ADAM23_ENST00000374416.1_Missense_Mutation_p.T762I|ADAM23_ENST00000374415.3_Missense_Mutation_p.T762I NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 762 EGF-like. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TGTGATTTCACCTGGGCAGGG 0.423000 13 19 0 0 0.004990 0 0 DHX34 9704 broad.mit.edu 37 19 47856916 47856916 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:47856916C>T ENST00000328771.4 + 2 978 c.629C>T c.(628-630)aCc>aTc p.T210I NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 210 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GTGGCGTGCACCCAGCCCCGG 0.637000 6 21 0 0 0.003080 0 0 SLC2A1 6513 broad.mit.edu 37 1 43393399 43393399 + Silent SNP G G A rs76860965 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:43393399G>A ENST00000426263.3 - 9 1333 c.1155C>T c.(1153-1155)ccC>ccT p.P385P SLC2A1_ENST00000475162.1_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 385 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) ACCATGGGATGGGGCCAGGAC 0.552000 9 7 0 0 0.004482 0 0 CDA 978 broad.mit.edu 37 1 20931499 20931499 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:20931499G>A ENST00000375071.3 + 2 415 c.233G>A c.(232-234)gGg>gAg p.G78E CDA_ENST00000461985.1_3'UTR NM_001785.2 NP_001776.1 P32320 CDD_HUMAN cytidine deaminase 78 cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage cytosol|extracellular region cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 7 Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199) Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) GTCTCAGAAGGGTACAAGGAT 0.498000 11 17 0 0 0.001855 0 0 PCLO 27445 broad.mit.edu 37 7 82538248 82538248 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:82538248C>T ENST00000423517.2 - 8 13719 c.13382G>A c.(13381-13383)cGa>cAa p.R4461Q PCLO_ENST00000333891.8_Missense_Mutation_p.R4461Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4392 PDZ. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CGGCAGTTTTCGGTCCAGACC 0.418000 101 6 0 0 0.003610 0 0 ACAN 176 broad.mit.edu 37 15 89400855 89400855 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:89400855G>A ENST00000439576.2 + 12 5413 c.5039G>A c.(5038-5040)gGg>gAg p.G1680E ACAN_ENST00000559004.1_Missense_Mutation_p.G1680E|ACAN_ENST00000352105.7_Missense_Mutation_p.G1680E|ACAN_ENST00000561243.1_Missense_Mutation_p.G1680E NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1680 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GAACTGGAAGGGAGGGGAACC 0.517000 82 121 0 0 0.003610 0 0 LOC494141 494141 broad.mit.edu 37 11 18231403 18231403 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:18231403C>T ENST00000527059.1 + 1 649 c.189C>T c.(187-189)ctC>ctT p.L63L RP11-113D6.10_ENST00000534640.1_Silent_p.L63L|RP11-113D6.10_ENST00000340135.3_Silent_p.L63L AGAAGGTCCTCTTTCCACAAC 0.443000 28 13 0 0 0.002096 0 0 PLB1 151056 broad.mit.edu 37 2 28761176 28761176 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:28761176C>T ENST00000422425.2 + 10 623 c.579C>T c.(577-579)ctC>ctT p.L193L PLB1_ENST00000327757.5_Intron NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 185 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GCACGGTTCTCCTCTCACAGA 0.647000 11 13 0 0 0.001882 0 0 CD96 10225 broad.mit.edu 37 3 111296348 111296348 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:111296348G>A ENST00000283285.5 + 4 674 c.e4-1 CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron NM_198196.2 NP_937839.1 P40200 TACT_HUMAN CD96 molecule cell adhesion|immune response|regulation of immune response integral to plasma membrane p.?(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 TTCTTCCTTAGGAAAACAGCA 0.423000 Opitz Trigonocephaly syndrome 42 124 0 0 0.003610 0 0 TIMD4 91937 broad.mit.edu 37 5 156376728 156376728 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:156376728G>A ENST00000274532.2 - 4 750 c.694C>T c.(694-696)Ctc>Ttc p.L232F TIMD4_ENST00000407087.3_Missense_Mutation_p.L232F NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 232 integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCACTGGGGAGGACAGTTTCT 0.453000 31 205 0 0 0.002836 0 0 MYH4 4622 broad.mit.edu 37 17 10363547 10363547 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10363547G>A ENST00000255381.2 - 13 1349 c.1239C>T c.(1237-1239)ttC>ttT p.F413F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 413 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTTTGGTTACGAACTCATTGC 0.433000 31 48 0 0 0.002836 0 0 PRIMA1 145270 broad.mit.edu 37 14 94203637 94203637 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:94203637G>A ENST00000393140.1 - 4 411 c.309C>T c.(307-309)tcC>tcT p.S103S PRIMA1_ENST00000316227.3_Silent_p.S103S|PRIMA1_ENST00000393143.1_Silent_p.S103S NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 103 neurotransmitter catabolic process cell junction|integral to membrane|synapse endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) GAAACACCAGGGAGGCACAGC 0.537000 26 4 0 0 0.001512 0 0 TIMD4 91937 broad.mit.edu 37 5 156381595 156381595 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:156381595G>A ENST00000274532.2 - 2 287 c.231C>T c.(229-231)acC>acT p.T77T TIMD4_ENST00000407087.3_Silent_p.T77T NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 77 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACTTTCTTGAGGTCACCCTCA 0.527000 106 523 0 0 0.003610 0 0 POLR3GL 84265 broad.mit.edu 37 1 145456715 145456715 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:145456715A>C ENST00000369314.1 - 8 685 c.579T>G c.(577-579)gaT>gaG p.D193E POLR3GL_ENST00000369313.3_Missense_Mutation_p.D170E NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 193 endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACATGATGTAATCAGTTTCCT 0.413000 40 105 0 0 0.002852 0 0 PSMB8 5696 broad.mit.edu 37 6 32809461 32809461 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32809461T>C ENST00000374881.2 - 5 866 c.577A>G c.(577-579)Atg>Gtg p.M193V PSMB8_ENST00000395339.3_Missense_Mutation_p.M173V|PSMB8_ENST00000374882.3_Missense_Mutation_p.M197V NM_004159.4 NP_004150.1 P28062 PSB8_HUMAN proteasome (prosome, macropain) subunit, beta type, 8 197 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 11 GTGGAGAACATATTTCCTGAG 0.502000 106 198 0 0 0.003610 0 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 90 0 0 0.001984 0 0 RPS18 6222 broad.mit.edu 37 6 33244213 33244213 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:33244213C>T ENST00000439602.2 + 6 539 c.429C>T c.(427-429)ggC>ggT p.G143G RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_Silent_p.G73G P62269 RS18_HUMAN ribosomal protein S18 143 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 9 GCCGCCGTGGCCGCACCGTGG 0.488000 18 26 0 0 0.002780 0 0 DPPA2 151871 broad.mit.edu 37 3 109023324 109023324 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:109023324C>T ENST00000478945.1 - 7 1098 c.852G>A c.(850-852)aaG>aaA p.K284K NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 284 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGGGTTACCTCTTAGCACAGT 0.418000 8 32 0 0 0.006214 0 0 TEP1 7011 broad.mit.edu 37 14 20848177 20848177 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:20848177G>A ENST00000262715.5 - 35 5079 c.5039C>T c.(5038-5040)aCt>aTt p.T1680I TEP1_ENST00000556935.1_Missense_Mutation_p.T1572I|TEP1_ENST00000545983.1_Missense_Mutation_p.T18I NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1680 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGCCACAGCAGTAGGGGATGA 0.493000 25 35 0 0 0.003954 0 0 SERPINB5 5268 broad.mit.edu 37 18 61170800 61170800 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:61170800G>A ENST00000382771.4 + 7 1265 c.973G>A c.(973-975)Gaa>Aaa p.E325K NM_002639.4 NP_002630.2 P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 325 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 AGTGTGCTTAGAAATAACTGA 0.443000 14 32 0 0 0.001855 0 0 FBLIM1 54751 broad.mit.edu 37 1 16095111 16095111 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:16095111A>T ENST00000375766.3 + 5 1167 c.527A>T c.(526-528)aAa>aTa p.K176I FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Missense_Mutation_p.K176I|FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000375771.1_Missense_Mutation_p.K176I NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 176 cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CCTGTTGAGAAAGGGGCATCC 0.632000 11 12 0 0 0.001368 0 0 ZNF283 284349 broad.mit.edu 37 19 44351537 44351537 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:44351537C>T ENST00000324461.7 + 7 1081 c.784C>T c.(784-786)Ccc>Tcc p.P262S ZNF283_ENST00000588797.1_Missense_Mutation_p.P123S NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TGGTGAGAAACCCTATGAGTG 0.383000 44 35 0 0 0.002222 0 0 CDCP1 64866 broad.mit.edu 37 3 45152315 45152315 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:45152315G>A ENST00000296129.1 - 4 808 c.674C>T c.(673-675)tCt>tTt p.S225F CDCP1_ENST00000425231.2_Missense_Mutation_p.S225F NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 225 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CTCAAACACAGACTCGATGAT 0.552000 104 92 0 0 0.003610 0 0 RFX5 5993 broad.mit.edu 37 1 151314837 151314837 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:151314837G>A ENST00000290524.4 - 11 1854 c.1676C>T c.(1675-1677)cCc>cTc p.P559L RFX5_ENST00000368870.2_Missense_Mutation_p.P559L|RFX5_ENST00000452671.2_Missense_Mutation_p.P559L|RFX5_ENST00000452513.2_Missense_Mutation_p.P519L NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 559 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGGGACCAAGGGAATTTTATC 0.522000 26 120 0 0 0.004656 0 0 LHFPL3 375612 broad.mit.edu 37 7 104377262 104377262 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:104377262G>A ENST00000535008.1 + 4 710 c.586G>A c.(586-588)Gga>Aga p.G196R LHFPL3_ENST00000424859.1_Missense_Mutation_p.G182R|LHFPL3_ENST00000401970.2_Missense_Mutation_p.G182R|LHFPL3_ENST00000543266.1_Missense_Mutation_p.G196R Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 182 integral to membrane kidney(1)|large_intestine(2)|lung(6) 9 GGCTATTATTGGAATTTTGGA 0.458000 22 30 0 0 0.002299 0 0 SLC30A6 55676 broad.mit.edu 37 2 32445597 32445597 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:32445597C>T ENST00000282587.5 + 14 1238 c.1201C>T c.(1201-1203)Ctt>Ttt p.L401F SLC30A6_ENST00000538303.1_Missense_Mutation_p.L372F|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L378F|SLC30A6_ENST00000406369.1_Missense_Mutation_p.L327F|SLC30A6_ENST00000357055.3_Missense_Mutation_p.L204F|SLC30A6_ENST00000379343.2_Missense_Mutation_p.L441F NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 401 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CCCAGTTATTCTTCTAAACAC 0.413000 25 67 0 0 0.004656 0 0 SDK2 54549 broad.mit.edu 37 17 71427751 71427751 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:71427751G>A ENST00000392650.3 - 11 1370 c.1370C>T c.(1369-1371)tCg>tTg p.S457L SDK2_ENST00000388726.3_Missense_Mutation_p.S457L NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 457 Ig-like C2-type 5. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GAGGCTGCCCGACTCCAGGGG 0.652000 20 60 0 0 0.001216 0 0 NGLY1 55768 broad.mit.edu 37 3 25781209 25781209 + Missense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:25781209T>A ENST00000428257.1 - 5 847 c.740A>T c.(739-741)aAc>aTc p.N247I NGLY1_ENST00000417874.2_Missense_Mutation_p.N205I|NGLY1_ENST00000280700.5_Missense_Mutation_p.N247I|NGLY1_ENST00000422724.2_Intron|NGLY1_ENST00000396649.3_Missense_Mutation_p.N247I NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 247 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 GCACAAAACGTTATTCACCCA 0.413000 45 53 0 0 0.003610 0 0 ATR 545 broad.mit.edu 37 3 142217497 142217497 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:142217497G>A ENST00000350721.4 - 32 5621 c.5500C>T c.(5500-5502)Ctt>Ttt p.L1834F ATR_ENST00000383101.3_Missense_Mutation_p.L1770F NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1834 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GCAGCTGAAAGAGGTACAATT 0.368000 Other conserved DNA damage response genes 9 21 0 0 0.004482 0 0 ZNF812 729648 broad.mit.edu 37 19 9801144 9801144 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9801144G>A ENST00000457674.2 - 5 1553 c.1035C>T c.(1033-1035)tcC>tcT p.S345S ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TAAGGGTTGAGGATCCATTGA 0.418000 33 19 0 0 0.002096 0 0 PSG9 5678 broad.mit.edu 37 19 43772110 43772110 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:43772110C>T ENST00000244293.7 - 2 322 c.256G>A c.(256-258)Ggt>Agt p.G86S PSG9_ENST00000593948.1_Missense_Mutation_p.G86S|PSG9_ENST00000418820.2_Missense_Mutation_p.G86S|PSG9_ENST00000596730.1_Missense_Mutation_p.G86S|PSG9_ENST00000443718.3_Missense_Mutation_p.G86S|PSG9_ENST00000270077.3_Missense_Mutation_p.G86S|PSG9_ENST00000291752.5_Missense_Mutation_p.G86S Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 86 Ig-like V-type. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) ATTATTTTACCATCAACTATA 0.428000 45 181 0 0 0.003214 0 0 FREM2 341640 broad.mit.edu 37 13 39451349 39451349 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:39451349C>T ENST00000280481.7 + 21 8856 c.8640C>T c.(8638-8640)ttC>ttT p.F2880F NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2880 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCATGGGATTCGGGCAAGAGA 0.438000 50 87 0 0 0.003610 0 0 UGGT1 56886 broad.mit.edu 37 2 128936108 128936108 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:128936108C>A ENST00000375990.3 + 34 4111 c.3708C>A c.(3706-3708)tcC>tcA p.S1236S UGGT1_ENST00000259253.6_Silent_p.S1260S Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 1260 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding p.S1260S(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ATATTTTCTCCGTTGCATCTG 0.343000 14 43 1.3612e-06 2.19798e-06 0.003163 1 0 COL5A1 1289 broad.mit.edu 37 9 137707431 137707431 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:137707431G>A ENST00000371817.3 + 51 4438 c.4024G>A c.(4024-4026)Ggt>Agt p.G1342S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1342 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGCCCAGTGGGTTTTCCTGG 0.617000 5 10 0 0 0.001168 0 0 PDE4A 5141 broad.mit.edu 37 19 10578042 10578042 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:10578042C>T ENST00000380702.2 + 16 2340 c.2340C>T c.(2338-2340)ttC>ttT p.F780F PDE4A_ENST00000592685.1_Silent_p.F780F|PDE4A_ENST00000440014.2_Silent_p.F741F|PDE4A_ENST00000344979.3_Silent_p.F563F|PDE4A_ENST00000352831.6_Silent_p.F802F|PDE4A_ENST00000293683.5_Silent_p.F776F P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 802 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GGGAGGAATTCGTGGTTGCTG 0.622000 52 48 0 0 0.003610 0 0 SPTA1 6708 broad.mit.edu 37 1 158590154 158590154 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158590154G>A ENST00000368148.3 - 44 6403 c.6223C>T c.(6223-6225)Ctg>Ttg p.L2075L SPTA1_ENST00000368147.3_Silent_p.L2072L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2075 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATTTCATTCAGGGAGACACAG 0.483000 19 27 0 0 0.001216 0 0 PPRC1 23082 broad.mit.edu 37 10 103899555 103899555 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:103899555C>T ENST00000278070.2 + 5 1329 c.1290C>T c.(1288-1290)ccC>ccT p.P430P PPRC1_ENST00000413464.2_Silent_p.P430P NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TATTGAAGCCCAGGGAGGTCG 0.572000 18 42 0 0 0.004990 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58601523 58601523 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:58601523G>A ENST00000240727.6 - 2 511 c.112C>T c.(112-114)Cct>Tct p.P38S ZSCAN18_ENST00000600404.1_Missense_Mutation_p.P94S|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.P38S NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 38 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GTCCTCTCAGGGATGGTCTCG 0.687000 19 52 0 0 0.007413 0 0 ZNF471 57573 broad.mit.edu 37 19 57037279 57037279 + Missense_Mutation SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:57037279A>T ENST00000308031.5 + 5 1976 c.1843A>T c.(1843-1845)Att>Ttt p.I615F ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) GTTATCCTTAATTTGTCATCA 0.428000 20 48 0 0 0.002299 0 0 ALPL 249 broad.mit.edu 37 1 21894741 21894741 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:21894741G>A ENST00000374840.3 + 7 1042 c.e7+1 ALPL_ENST00000540617.1_Splice_Site|ALPL_ENST00000539907.1_Splice_Site|ALPL_ENST00000425315.2_Splice_Site|ALPL_ENST00000374832.1_Splice_Site NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) GAGATACAAGGTAGCCTGTGC 0.572000 12 10 0 0 0.001855 0 0 CTCFL 140690 broad.mit.edu 37 20 56098752 56098752 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:56098752C>A ENST00000426658.2 - 1 1171 c.510G>T c.(508-510)gcG>gcT p.A170A CTCFL_ENST00000422869.2_Silent_p.A170A|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000422109.2_Silent_p.A170A|CTCFL_ENST00000423479.2_Silent_p.A170A|CTCFL_ENST00000432255.2_Silent_p.A170A|CTCFL_ENST00000371196.2_Silent_p.A170A|CTCFL_ENST00000429804.2_Silent_p.A170A|CTCFL_ENST00000243914.3_Silent_p.A170A|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Silent_p.A170A Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 170 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCAGGCTCACCGCTAACTTAC 0.458000 6 247 0.00448238 0.00716665 0.004482 1 0 RBFOX1 54715 broad.mit.edu 37 16 7759066 7759066 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:7759066G>A ENST00000340209.4 + 12 1316 c.1019G>A c.(1018-1020)cGa>cAa p.R340Q RBFOX1_ENST00000422070.4_Missense_Mutation_p.R378Q|RBFOX1_ENST00000547372.1_Missense_Mutation_p.E396K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R356Q|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E310K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E370K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R356Q|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R335Q|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E374K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R335Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R308Q Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 335 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding p.R356Q(1)|p.E374K(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AGTTACGGACGAGTTTATGCT 0.453000 32 40 0 0 0.003271 0 0 CDH18 1016 broad.mit.edu 37 5 19571736 19571736 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:19571736A>G ENST00000507958.1 - 10 2195 c.1205T>C c.(1204-1206)gTt>gCt p.V402A CDH18_ENST00000274170.4_Missense_Mutation_p.V402A|CDH18_ENST00000506372.1_Missense_Mutation_p.V402A|CDH18_ENST00000382275.1_Missense_Mutation_p.V402A|CDH18_ENST00000502796.1_Missense_Mutation_p.V402A|CDH18_ENST00000511273.1_Missense_Mutation_p.V402A Q13634 CAD18_HUMAN cadherin 18, type 2 402 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AACTGTACCAACGACGGTCCC 0.423000 40 16 0 0 0.002852 0 0 LTN1 26046 broad.mit.edu 37 21 30365230 30365230 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:30365230C>T ENST00000389194.2 - 1 40 c.35G>A c.(34-36)gGa>gAa p.G12E LTN1_ENST00000389195.2_Missense_Mutation_p.G12E|LTN1_ENST00000361371.4_5'UTR O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 0 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GTAATAACTTCCCCCGGGCCC 0.642000 4 3 0 0 0.000248 0 0 OGDH 4967 broad.mit.edu 37 7 44684995 44684995 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:44684995C>T ENST00000222673.5 + 3 334 c.292C>T c.(292-294)Ccc>Tcc p.P98S OGDH_ENST00000449767.1_Missense_Mutation_p.P98S|OGDH_ENST00000443864.2_Missense_Mutation_p.P98S|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Missense_Mutation_p.P38S|OGDH_ENST00000447398.1_Missense_Mutation_p.P98S|OGDH_ENST00000444676.1_Missense_Mutation_p.P98S NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 98 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GAGTCCCCTTCCCCTGAGCCG 0.587000 62 139 0 0 0.003610 0 0 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 91 0 0 0.001984 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122348878 122348878 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:122348878C>T ENST00000398250.1 + 7 1032 c.680C>T c.(679-681)cCt>cTt p.P227L PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P217L|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.P164L|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.L77F NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 227 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) CAGCACTATCCTCCTCTGGCC 0.522000 95 87 0 0 0.003610 0 0 PNPLA7 375775 broad.mit.edu 37 9 140392681 140392681 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:140392681G>A ENST00000406427.1 - 17 2110 c.1774C>T c.(1774-1776)Ccg>Tcg p.P592S PNPLA7_ENST00000371457.1_Missense_Mutation_p.P173S|PNPLA7_ENST00000277531.4_Missense_Mutation_p.P567S NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 567 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) ACGACGGTCGGCTGCTTCCGC 0.647000 32 16 0 0 0.003271 0 0 HEATR5B 54497 broad.mit.edu 37 2 37276937 37276937 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:37276937G>A ENST00000233099.5 - 18 2650 c.2555C>T c.(2554-2556)tCt>tTt p.S852F HEATR5B_ENST00000354531.2_Missense_Mutation_p.S852F NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 852 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TGTCAGGGCAGATTTACGAAC 0.413000 8 25 0 0 0.006214 0 0 SI 6476 broad.mit.edu 37 3 164792420 164792420 + Missense_Mutation SNP G G C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:164792420G>C ENST00000264382.3 - 3 216 c.154C>G c.(154-156)Cgt>Ggt p.R52G NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 52 Ser/Thr-rich. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTAGTCACACGAGTAGTAGCT 0.333000 HNSCC(35;0.089) 16 24 0 0 0.001523 0 0 CYP2C19 1557 broad.mit.edu 37 10 96540305 96540305 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:96540305G>A ENST00000371321.3 + 4 613 c.531G>A c.(529-531)gtG>gtA p.V177V CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 177 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CCTGCAATGTGATCTGCTCCA 0.353000 74 63 0 0 0.003610 0 0 C5orf42 65250 broad.mit.edu 37 5 37201695 37201695 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:37201695C>T ENST00000274258.7 - 19 3735 c.148G>A c.(148-150)Gaa>Aaa p.E50K C5orf42_ENST00000425232.2_Missense_Mutation_p.E1169K|C5orf42_ENST00000508244.1_Missense_Mutation_p.E1169K E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1169 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) AAGCTTACTTCACTAAGAATA 0.343000 47 24 0 0 0.003610 0 0 ELTD1 64123 broad.mit.edu 37 1 79357242 79357242 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:79357242G>A ENST00000370742.3 - 14 2040 c.1977C>T c.(1975-1977)ttC>ttT p.F659F NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 659 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ATAAAAAAATGAACATCCCCT 0.398000 9 10 0 0 0.006214 0 0 DMBT1 1755 broad.mit.edu 37 10 124377614 124377614 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:124377614C>T ENST00000338354.3 + 38 4692 c.4586C>T c.(4585-4587)tCc>tTc p.S1529F DMBT1_ENST00000368909.3_Missense_Mutation_p.S1529F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S380F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S901F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1519F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1519F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S901F Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1529 SRCR 12. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TACCAAGGCTCCTGGGGCACC 0.582000 87 278 0 0 0.003610 0 0 SLC28A1 9154 broad.mit.edu 37 15 85467298 85467298 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:85467298C>T ENST00000394573.1 + 12 1242 c.1040C>T c.(1039-1041)gCc>gTc p.A347V SLC28A1_ENST00000537216.1_Missense_Mutation_p.A347V|SLC28A1_ENST00000537703.1_Missense_Mutation_p.A269V|SLC28A1_ENST00000286749.3_Missense_Mutation_p.A347V|SLC28A1_ENST00000538177.1_Missense_Mutation_p.A347V|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A347V NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 347 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGAGGTTACGCCACCATTGCT 0.547000 11 99 0 0 0.000978 0 0 LAIR2 3904 broad.mit.edu 37 19 55014948 55014948 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55014948G>A ENST00000301202.2 + 2 189 c.67G>A c.(67-69)Gag>Aag p.E23K LAIR2_ENST00000351841.2_Missense_Mutation_p.E23K NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 23 extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) CCACACGCAGGAGGGTAAGTC 0.577000 60 18 0 0 0.003610 0 0 SLC29A3 55315 broad.mit.edu 37 10 73082758 73082758 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:73082758C>T ENST00000373189.5 + 2 299 c.247C>T c.(247-249)Cgc>Tgc p.R83C NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 83 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 GTTCAAACTCCGCAACTCCTC 0.552000 20 30 0 0 0.001523 0 0 TFE3 7030 broad.mit.edu 37 X 48896849 48896849 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:48896849A>C ENST00000315869.7 - 3 576 c.317T>G c.(316-318)aTg>aGg p.M106R TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 106 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 AGATGACGACATGGCAGGGGT 0.637000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 9 2 0 0 0.004482 0 0 OR6F1 343169 broad.mit.edu 37 1 247875959 247875959 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:247875959C>T ENST00000302084.2 - 1 146 c.99G>A c.(97-99)gtG>gtA p.V33V RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGATGTACATCACCAGAAAAA 0.463000 73 94 0 0 0.003610 0 0 OR1N2 138882 broad.mit.edu 37 9 125316188 125316188 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:125316188C>T ENST00000373688.2 + 1 798 c.740C>T c.(739-741)tCt>tTt p.S247F NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 GTCATCTCATCTCCTGGAGGG 0.502000 38 79 0 0 0.002852 0 0 TRIML1 339976 broad.mit.edu 37 4 189068478 189068478 + Silent SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:189068478G>T ENST00000332517.3 + 6 1499 c.1359G>T c.(1357-1359)ggG>ggT p.G453G TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 453 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CAAATGAGGGGACAAACACAG 0.577000 28 51 1.68575e-08 2.72733e-08 0.007291 1 0 ZNF845 91664 broad.mit.edu 37 19 53854487 53854487 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:53854487C>T ENST00000458035.1 + 4 676 c.559C>T c.(559-561)Cac>Tac p.H187Y ZNF845_ENST00000595091.1_Missense_Mutation_p.H187Y NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GCCTAAAACCCACATTTCTAA 0.368000 18 83 0 0 0.004990 0 0 KCNC3 3748 broad.mit.edu 37 19 50826822 50826822 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:50826822G>A ENST00000376959.2 - 2 1551 c.1388C>T c.(1387-1389)gCc>gTc p.A463V KCNC3_ENST00000477616.1_Missense_Mutation_p.A463V|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 463 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) AATCATGGTGGCGAAGATGAG 0.607000 10 31 0 0 0.000673 0 0 CMTM1 113540 broad.mit.edu 37 16 66603928 66603928 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:66603928C>T ENST00000379500.2 + 2 589 c.522C>T c.(520-522)gtC>gtT p.V174V CMTM1_ENST00000328020.6_Silent_p.V174V|CMTM1_ENST00000528324.1_Silent_p.V57V|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000535705.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Silent_p.V57V|CMTM1_ENST00000531885.1_Intron NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 57 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) TCTGCATTGTCGTTTTTTTTA 0.343000 47 105 0 0 0.003214 0 0 GRM4 2914 broad.mit.edu 37 6 34101185 34101185 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:34101185G>A ENST00000374181.3 - 1 258 c.89C>T c.(88-90)tCc>tTc p.S30F GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.S30F NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 30 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CTTTCCCAGGGAGGAAGGCAT 0.632000 10 47 0 0 0.000673 0 0 PASK 23178 broad.mit.edu 37 2 242065899 242065899 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:242065899G>A ENST00000403638.3 - 10 2522 c.2431C>T c.(2431-2433)Cga>Tga p.R811* PASK_ENST00000544142.1_Nonsense_Mutation_p.R625*|PASK_ENST00000405260.1_Nonsense_Mutation_p.R811*|PASK_ENST00000358649.4_Nonsense_Mutation_p.R811*|PASK_ENST00000234040.4_Nonsense_Mutation_p.R811*|PASK_ENST00000539818.1_Nonsense_Mutation_p.R595* NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 811 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CGGAACCGTCGGCCTTGGCCA 0.562000 10 20 0 0 0.000673 0 0 ASH1L 55870 broad.mit.edu 37 1 155449894 155449894 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:155449894C>T ENST00000368346.3 - 3 3406 c.2767G>A c.(2767-2769)Gaa>Aaa p.E923K ASH1L_ENST00000392403.3_Missense_Mutation_p.E923K Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 923 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTTTCAGATTCTAGCTTGCTT 0.473000 31 103 0 0 0.002445 0 0 MAML3 55534 broad.mit.edu 37 4 140811507 140811507 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:140811507G>A ENST00000509479.2 - 2 1939 c.1083C>T c.(1081-1083)ccC>ccT p.P361P MAML3_ENST00000327122.5_Silent_p.P205P NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 361 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GAGAGTGAGAGGGGTCGCTCT 0.552000 12 50 0 0 0.001368 0 0 TTC40 54777 broad.mit.edu 37 10 134755113 134755113 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:134755113C>T ENST00000368586.5 - 3 388 c.288G>A c.(286-288)ccG>ccA p.P96P TTC40_ENST00000368582.2_Silent_p.P96P|TTC40_ENST00000368585.3_Silent_p.P96P NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 0 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CTGCCGACTTCGGGGCACACA 0.577000 14 26 0 0 0.004007 0 0 POLR1A 25885 broad.mit.edu 37 2 86276287 86276287 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:86276287G>A ENST00000263857.6 - 17 2849 c.2471C>T c.(2470-2472)cCc>cTc p.P824L POLR1A_ENST00000409681.1_Missense_Mutation_p.P824L O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 824 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CCTTACCTGGGGCCCGCAGTG 0.557000 38 94 0 0 0.003610 0 0 CES4A 283848 broad.mit.edu 37 16 67029684 67029684 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:67029684C>T ENST00000540947.2 + 2 396 c.212C>T c.(211-213)cCc>cTc p.P71L CES4A_ENST00000326686.5_Missense_Mutation_p.P71L|CES4A_ENST00000338718.4_Missense_Mutation_p.P94L|CES4A_ENST00000398354.1_Missense_Mutation_p.P71L|CES4A_ENST00000541479.1_Missense_Mutation_p.P94L NM_173815.6 NP_776176.5 Q5XG92 EST4A_HUMAN carboxylesterase 4A 71 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 CCTCCAGAACCCCCGGAGCCC 0.567000 46 33 0 0 0.003610 0 0 C10orf25 220979 broad.mit.edu 37 10 45495838 45495838 + Nonsense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:45495838G>T ENST00000298298.1 - 2 385 c.357C>A c.(355-357)tgC>tgA p.C119* NM_001039380.2 NP_001034469.2 Q5T742 CJ025_HUMAN chromosome 10 open reading frame 25 119 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1) 6 agatgactgagcACGGCCAGG 0.527000 4 17 1.23904e-05 1.99733e-05 0.000602 1 0 CACNA1E 777 broad.mit.edu 37 1 181620538 181620538 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:181620538C>T ENST00000526775.1 + 7 1181 c.1016C>T c.(1015-1017)tCc>tTc p.S339F CACNA1E_ENST00000360108.3_Missense_Mutation_p.S339F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S290F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S290F|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S339F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S339F NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 339 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ATCATTGGATCCTTCTTTGTT 0.433000 28 109 0 0 0.002096 0 0 FOLH1B 219595 broad.mit.edu 37 11 89429862 89429862 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:89429862C>T ENST00000532352.1 + 0 1859 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 ATTTATTGATCCATTAGGGTT 0.294000 20 41 0 0 0.002299 0 0 PARP6 56965 broad.mit.edu 37 15 72552844 72552844 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:72552844G>A ENST00000569795.1 - 10 1418 c.731C>T c.(730-732)cCt>cTt p.P244L PARP6_ENST00000260376.7_Missense_Mutation_p.P244L|PARP6_ENST00000413097.2_Intron|PARP6_ENST00000287196.9_Missense_Mutation_p.P244L Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 244 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 TGCTGGGGGAGGGAGGCCCAC 0.587000 107 96 0 0 0.003610 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963608 73963608 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:73963608C>T ENST00000373468.1 - 3 1435 c.784G>A c.(784-786)Gag>Aag p.E262K KIAA2022_ENST00000055682.5_Missense_Mutation_p.E262K Q5QGS0 K2022_HUMAN KIAA2022 262 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ATAAAAGTCTCGAAGTAACCC 0.393000 31 37 0 0 0.002096 0 0 PROL1 58503 broad.mit.edu 37 4 71275199 71275199 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:71275199C>T ENST00000399575.2 + 3 328 c.154C>T c.(154-156)Ccc>Tcc p.P52S PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 52 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) TCCCCCACCTCCCTATGACTC 0.502000 34 41 0 0 0.003755 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41735047 41735047 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:41735047C>T ENST00000352645.4 + 9 925 c.668C>T c.(667-669)tCc>tTc p.S223F ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S223F NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 239 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTTCTCCCCTCCACGCCCACG 0.667000 126 107 0 0 0.003610 0 0 SLC7A11 23657 broad.mit.edu 37 4 139163171 139163171 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:139163171C>T ENST00000280612.5 - 1 332 c.53G>A c.(52-54)gGa>gAa p.G18E NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 18 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) GTTAACATTTCCCTGCAGGTA 0.507000 13 27 0 0 0.001368 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729977 37729977 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:37729977G>A ENST00000330843.4 - 4 2355 c.2343C>T c.(2341-2343)gtC>gtT p.V781V RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 781 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CAATGGAAGGGACTGATGCTC 0.542000 32 16 0 0 0.004289 0 0 BAX 581 broad.mit.edu 37 19 49464238 49464238 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:49464238C>T ENST00000293288.8 + 5 541 c.541C>T c.(541-543)Ctg>Ttg p.L181L BAX_ENST00000391871.3_Intron|BAX_ENST00000539787.1_Intron|BAX_ENST00000354470.3_Intron|BAX_ENST00000345358.7_Intron|BAX_ENST00000415969.2_Intron NM_004324.3 NP_004315.1 Q07812 BAX_HUMAN BCL2-associated X protein 0 activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity p.L181L(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4) 17 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) cccaccgtccctgcccccCGC 0.642000 12 23 0 0 0.001368 0 0 PRSS57 400668 broad.mit.edu 37 19 686997 686997 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:686997G>A ENST00000329267.7 - 4 602 c.573C>T c.(571-573)tcC>tcT p.S191S NM_214710.3 NP_999875.1 Q6UWY2 PRS57_HUMAN protease, serine, 57 191 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|lung(5) 6 GGCCCTTCCAGGAGCTGTTGC 0.642000 9 38 0 0 0.004482 0 0 MYO5A 4644 broad.mit.edu 37 15 52664505 52664505 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:52664505G>A ENST00000399231.3 - 21 2876 c.2633C>T c.(2632-2634)gCc>gTc p.A878V MYO5A_ENST00000356338.6_Missense_Mutation_p.A878V|MYO5A_ENST00000553916.1_Missense_Mutation_p.A878V|MYO5A_ENST00000399233.2_Missense_Mutation_p.A878V|MYO5A_ENST00000358212.6_Missense_Mutation_p.A878V NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 878 IQ 5. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GTGTGTGCGGGCCAGCCAGCC 0.527000 14 32 0 0 0.001855 0 0 PATL1 219988 broad.mit.edu 37 11 59425053 59425053 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:59425053G>A ENST00000300146.9 - 5 655 c.571C>T c.(571-573)Ccc>Tcc p.P191S NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 191 Pro-rich.|Region N; interaction with decapping machinery. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 GTGCCTATGGGGACAGCTCTA 0.537000 23 58 0 0 0.003954 0 0 ALG13 79868 broad.mit.edu 37 X 110951444 110951444 + Silent SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:110951444T>C ENST00000394780.3 + 4 585 c.573T>C c.(571-573)gcT>gcC p.A191A ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.A87A NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 191 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 CTTGCCACGCTTTTTTTCCTC 0.483000 3 45 0 0 0.000248 0 0 CCDC68 80323 broad.mit.edu 37 18 52608269 52608269 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:52608269C>T ENST00000591504.1 - 4 437 c.163G>A c.(163-165)Gaa>Aaa p.E55K CCDC68_ENST00000337363.4_Missense_Mutation_p.E55K|CCDC68_ENST00000432185.1_Missense_Mutation_p.E55K NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 55 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) TGTCTTATTTCATCTTTAAAC 0.323000 10 40 0 0 0.000673 0 0 SPTBN2 6712 broad.mit.edu 37 11 66468095 66468095 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:66468095G>A ENST00000533211.1 - 17 3806 c.3475C>T c.(3475-3477)Cga>Tga p.R1159* SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.R1159*|SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.R1159* O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1159 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TCCCACATTCGGCCCAGCTCC 0.692000 33 21 0 0 0.003755 0 0 CACNA1E 777 broad.mit.edu 37 1 181759674 181759674 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:181759674C>T ENST00000526775.1 + 43 5988 c.5823C>T c.(5821-5823)ttC>ttT p.F1941F CACNA1E_ENST00000360108.3_Silent_p.F1941F|CACNA1E_ENST00000358338.5_Silent_p.F1892F|CACNA1E_ENST00000357570.5_Silent_p.F1911F|CACNA1E_ENST00000367567.4_Silent_p.F1567F|CACNA1E_ENST00000367570.1_Silent_p.F1960F|CACNA1E_ENST00000367573.2_Silent_p.F1960F NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1960 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACGGACAGTTCCAAGAACGGC 0.473000 9 55 0 0 0.006214 0 0 NR6A1 2649 broad.mit.edu 37 9 127316621 127316621 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:127316621C>T ENST00000487099.2 - 3 528 c.371G>A c.(370-372)gGg>gAg p.G124E NR6A1_ENST00000373584.3_Missense_Mutation_p.G120E|NR6A1_ENST00000344523.4_Missense_Mutation_p.G124E|NR6A1_ENST00000416460.2_Missense_Mutation_p.G120E NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 124 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 CCGGTTCATCCCCATCTGGAG 0.493000 25 73 0 0 0.005443 0 0 SCN9A 6335 broad.mit.edu 37 2 167151135 167151135 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:167151135G>A ENST00000375387.4 - 8 1282 c.942C>T c.(940-942)ctC>ctT p.L314L SCN9A_ENST00000409435.1_Silent_p.L313L|SCN9A_ENST00000303354.6_Silent_p.L314L|SCN9A_ENST00000409672.1_Silent_p.L313L|AC010127.3_ENST00000447809.2_RNA Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 313 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AACCACAAAGGAGAGCATCTT 0.328000 14 10 0 0 0.003163 0 0 DCLK2 166614 broad.mit.edu 37 4 151023715 151023715 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:151023715C>T ENST00000296550.7 + 2 1261 c.507C>T c.(505-507)atC>atT p.I169I DCLK2_ENST00000302176.8_Silent_p.I169I|DCLK2_ENST00000506325.1_Silent_p.I169I NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 169 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) CTGTGAACATCAAGGGTGGGA 0.408000 26 13 0 0 0.005443 0 0 OR6C2 341416 broad.mit.edu 37 12 55846911 55846911 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:55846911G>A ENST00000322678.1 + 1 914 c.914G>A c.(913-915)aGg>aAg p.R305K RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 TCTATAAAGAGGATTGCATTT 0.388000 14 90 0 0 0.002450 0 0 DNAH5 1767 broad.mit.edu 37 5 13766175 13766175 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:13766175C>T ENST00000265104.4 - 59 10115 c.10011G>A c.(10009-10011)gtG>gtA p.V3337V DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3337 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGTCAATTTTCACAGCACTGA 0.493000 Kartagener syndrome 24 103 0 0 0.003954 0 0 KRTAP6-1 337966 broad.mit.edu 37 21 31986117 31986117 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:31986117G>A ENST00000329122.2 - 1 132 c.107C>T c.(106-108)tCc>tTc p.S36F NM_181602.1 NP_853633.1 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 36 cytosol|intermediate filament breast(2)|endometrium(1)|lung(7) 10 GCCACAGCAGGAGCCATAGCC 0.612000 31 46 0 0 0.004289 0 0 S100A7L2 645922 broad.mit.edu 37 1 153409565 153409565 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:153409565C>T ENST00000368725.2 - 3 307 c.308G>A c.(307-309)gGa>gAa p.G103E NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGGTGCCACTCCATGCATTAT 0.468000 48 173 0 0 0.003610 0 0 ZNF708 7562 broad.mit.edu 37 19 21477443 21477443 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:21477443G>A ENST00000356929.3 - 4 522 c.325C>T c.(325-327)Cag>Tag p.Q109* NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 CAGCCTTTCTGATATCCACAT 0.398000 27 69 0 0 0.002445 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855155 79855155 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:79855155G>A ENST00000338682.3 - 5 1356 c.684C>T c.(682-684)tcC>tcT p.S228S NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 228 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) TCCTCACAGGGGAACCTGGGT 0.527000 7 57 0 0 0.001984 0 0 MMP19 4327 broad.mit.edu 37 12 56236179 56236179 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:56236179C>T ENST00000322569.4 - 2 222 c.131G>A c.(130-132)gGa>gAa p.G44E MMP19_ENST00000409200.3_Missense_Mutation_p.G44E|MMP19_ENST00000548629.1_Missense_Mutation_p.G44E|MMP19_ENST00000547487.1_5'UTR NM_002429.4 NP_002420.1 Q99542 MMP19_HUMAN matrix metallopeptidase 19 44 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 GTTATTAGATCCTTCTAGAGG 0.458000 32 313 0 0 0.007835 0 0 SUGP2 10147 broad.mit.edu 37 19 19112431 19112431 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:19112431G>A ENST00000601879.1 - 8 3279 c.2982C>T c.(2980-2982)tcC>tcT p.S994S SUGP2_ENST00000337018.6_Silent_p.S994S|SUGP2_ENST00000456085.2_Silent_p.S763S|SUGP2_ENST00000600377.1_Silent_p.S1008S|SUGP2_ENST00000452918.2_Silent_p.S994S Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 994 mRNA processing|RNA splicing nucleus RNA binding p.S994S(1) NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CCTTCTTTTTGGACATGGGAC 0.433000 14 60 0 0 0.002450 0 0 HGD 3081 broad.mit.edu 37 3 120360535 120360535 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:120360535G>A ENST00000283871.5 - 11 1239 c.780C>T c.(778-780)gtC>gtT p.V260V NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 260 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) TGAACGGGGAGACATCCTAAA 0.413000 19 75 0 0 0.001523 0 0 CYP21A2 1589 broad.mit.edu 37 6 32007339 32007339 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32007339C>T ENST00000418967.2 + 5 724 c.566C>T c.(565-567)cCt>cTt p.P189L CYP21A2_ENST00000435122.2_Missense_Mutation_p.P159L NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 188 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 AACTTAATGCCTGCCTATTAC 0.542000 107 56 0 0 0.003610 0 0 CTSS 1520 broad.mit.edu 37 1 150720314 150720314 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:150720314C>T ENST00000368985.3 - 7 1095 c.835G>A c.(835-837)Ggt>Agt p.G279S CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.G229S NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 279 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) ACAAGTACACCATGATTCACA 0.348000 71 39 0 0 0.003610 0 0 KCNK9 51305 broad.mit.edu 37 8 140630829 140630829 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:140630829C>T ENST00000520439.1 - 2 860 c.797G>A c.(796-798)gGa>gAa p.G266E KCNK9_ENST00000303015.1_Missense_Mutation_p.G266E Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 266 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) GTTGCGGTTTCCGGCGAGGGA 0.632000 18 36 0 0 0.001216 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250642 140250642 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140250642G>A ENST00000398640.2 + 1 1954 c.1954G>A c.(1954-1956)Gat>Aat p.D652N PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGGTGAAGGATCACGGTGA 0.672000 22 36 0 0 0.001523 0 0 CAGE1 285782 broad.mit.edu 37 6 7373578 7373578 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:7373578G>A ENST00000502583.1 - 5 2038 c.1474C>T c.(1474-1476)Cag>Tag p.Q492* CAGE1_ENST00000379918.4_Nonsense_Mutation_p.Q492*|CAGE1_ENST00000338150.4_Nonsense_Mutation_p.Q492*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.Q356*|CAGE1_ENST00000512086.1_Nonsense_Mutation_p.Q492* NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 492 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) TCAAGTTTCTGGAATTCCTCC 0.378000 21 16 0 0 0.001523 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31727911 31727911 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:31727911C>T ENST00000493662.2 + 19 1837 c.1781C>T c.(1780-1782)tCc>tTc p.S594F MSH5_ENST00000375742.3_Missense_Mutation_p.S594F|MSH5_ENST00000431848.2_Missense_Mutation_p.S276F|MSH5_ENST00000375740.3_Missense_Mutation_p.S594F|MSH5_ENST00000375703.3_Missense_Mutation_p.S577F|MSH5_ENST00000375750.3_Missense_Mutation_p.S577F|MSH5_ENST00000375755.3_Missense_Mutation_p.S577F|MSH5_ENST00000534153.4_Missense_Mutation_p.S594F|MSH5_ENST00000395853.1_Missense_Mutation_p.S251F GTGCCCAACTCCACAGAATGT 0.542000 265 400 0 0 0.003610 0 0 ACAA1 30 broad.mit.edu 37 3 38169316 38169316 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:38169316C>T ENST00000333167.8 - 7 759 c.587G>A c.(586-588)cGg>cAg p.R196Q ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000544624.1_Missense_Mutation_p.R44Q|ACAA1_ENST00000301810.7_Missense_Mutation_p.R163Q|ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.R155Q NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 196 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) CTGCTTCTCCCGTGAAATGCC 0.502000 14 52 0 0 0.004007 0 0 COL4A3 1285 broad.mit.edu 37 2 228128652 228128652 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:228128652G>A ENST00000396578.3 + 21 1469 c.1307G>A c.(1306-1308)gGa>gAa p.G436E AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 436 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGACCTCCAGGACCGCCAGGT 0.587000 13 29 0 0 0.002450 0 0 MYH14 79784 broad.mit.edu 37 19 50812353 50812353 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:50812353G>A ENST00000440075.2 + 42 5926 c.5879G>A c.(5878-5880)aGg>aAg p.R1960K MYH14_ENST00000601313.1_Missense_Mutation_p.R1960K|MYH14_ENST00000598205.1_Missense_Mutation_p.R1927K|MYH14_ENST00000596571.1_Missense_Mutation_p.R1919K|MYH14_ENST00000425460.1_Missense_Mutation_p.R1927K|MYH14_ENST00000376970.2_Missense_Mutation_p.R1952K|MYH14_ENST00000262269.8_Missense_Mutation_p.R1960K Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1919 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGCCGCCGGAGGCTGCAGCGT 0.622000 19 48 0 0 0.007413 0 0 CD1E 913 broad.mit.edu 37 1 158325175 158325175 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158325175C>T ENST00000444681.2 + 2 437 c.144C>T c.(142-144)ttC>ttT p.F48F CD1E_ENST00000368161.3_Silent_p.F147F|CD1E_ENST00000434258.1_Silent_p.F145F|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Silent_p.F147F|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Silent_p.F147F|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368160.3_Silent_p.F147F|CD1E_ENST00000452291.2_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 147 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GGTCAGATTTCCTGAGTTTCC 0.468000 29 101 0 0 0.007291 0 0 SERBP1 26135 broad.mit.edu 37 1 67880961 67880961 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:67880961G>A ENST00000370994.4 - 7 1109 c.995C>T c.(994-996)tCt>tTt p.S332F SERBP1_ENST00000361219.6_Missense_Mutation_p.S338F|SERBP1_ENST00000370995.2_Missense_Mutation_p.S353F|SERBP1_ENST00000370990.5_Missense_Mutation_p.S347F NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3 NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 353 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 13 CTCCAGCTGAGACGTTATATC 0.517000 28 31 0 0 0.001786 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58601588 58601588 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:58601588G>A ENST00000240727.6 - 2 446 c.47C>T c.(46-48)gCc>gTc p.A16V ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A72V|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A16V NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 16 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) ATCCGGCGGGGCTGGGGAGCT 0.627000 14 60 0 0 0.006122 0 0 RRS1 23212 broad.mit.edu 37 8 67342116 67342116 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:67342116G>T ENST00000320270.2 + 1 854 c.750G>T c.(748-750)aaG>aaT p.K250N NM_015169.3 NP_055984.1 Q15050 RRS1_HUMAN RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) 250 mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus kidney(2)|lung(2) 4 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GCTCCGGCAAGAAAAGGAAGT 0.597000 11 34 9.31168e-06 1.50177e-05 0.001855 1 0 KLK7 5650 broad.mit.edu 37 19 51483678 51483678 + Missense_Mutation SNP G G A rs149466250 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:51483678G>A ENST00000391807.1 - 4 388 c.287C>T c.(286-288)tCg>tTg p.S96L KLK7_ENST00000336317.4_5'UTR|KLK7_ENST00000597707.1_Missense_Mutation_p.S24L|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.S96L NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 96 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) GAATGACTTCGAGGCCTTGAT 0.557000 16 36 0 0 0.006122 0 0 MIB1 57534 broad.mit.edu 37 18 19429261 19429261 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:19429261C>T ENST00000261537.6 + 17 2762 c.2498C>T c.(2497-2499)cCa>cTa p.P833L MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 833 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) CTTTTTGGTCCATGTGGACAT 0.393000 45 105 0 0 0.003610 0 0 DDI1 414301 broad.mit.edu 37 11 103907792 103907792 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:103907792G>A ENST00000302259.3 + 1 485 c.242G>A c.(241-243)gGa>gAa p.G81E PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 81 Ubiquitin-like. proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GACAATGTGGGACCTCGGGCT 0.607000 81 85 0 0 0.003610 0 0 MYLK 4638 broad.mit.edu 37 3 123419176 123419176 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:123419176G>A ENST00000360772.3 - 19 3517 c.3139C>T c.(3139-3141)Ctg>Ttg p.L1047L MYLK_ENST00000475616.1_Silent_p.L1047L|MYLK_ENST00000360304.3_Silent_p.L1047L|MYLK_ENST00000359169.1_Silent_p.L1047L|MYLK_ENST00000346322.5_Silent_p.L978L Q15746 MYLK_HUMAN myosin light chain kinase 1047 6 X 12 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ATGGGCTTCAGGGTCTCGGCA 0.547000 152 135 0 0 0.003610 0 0 F2RL1 2150 broad.mit.edu 37 5 76128740 76128740 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:76128740G>A ENST00000296677.4 + 2 514 c.308G>A c.(307-309)cGa>cAa p.R103Q NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 103 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) TTTCTTTTCCGAACTAAGAAG 0.478000 450 233 0 0 0.003610 0 0 CHRM3 1131 broad.mit.edu 37 1 240071103 240071103 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:240071103G>A ENST00000255380.4 + 5 1131 c.352G>A c.(352-354)Ggg>Agg p.G118R NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 118 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TCTGATTATCGGGGTCATTTC 0.478000 15 58 0 0 0.004007 0 0 SLC22A6 9356 broad.mit.edu 37 11 62749403 62749403 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:62749403G>A ENST00000377871.3 - 4 974 c.708C>T c.(706-708)ctC>ctT p.L236L SLC22A6_ENST00000458333.2_Silent_p.L236L|SLC22A6_ENST00000360421.4_Silent_p.L236L|SLC22A6_ENST00000421062.2_Silent_p.L236L|SLC22A6_ENST00000537349.1_5'UTR NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 236 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding p.L236L(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CACCAGCCAGGAGGAACTGGC 0.592000 15 15 0 0 0.002450 0 0 KIDINS220 57498 broad.mit.edu 37 2 8871204 8871204 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:8871204G>A ENST00000256707.3 - 30 5143 c.4962C>T c.(4960-4962)tcC>tcT p.S1654S KIDINS220_ENST00000418530.1_Silent_p.S1555S|KIDINS220_ENST00000427284.1_Silent_p.S1635S|KIDINS220_ENST00000473731.1_Silent_p.S1635S NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1654 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGCTGCATTCGGAAGGGCTTT 0.517000 31 43 0 0 0.002096 0 0 MSH3 4437 broad.mit.edu 37 5 80037355 80037355 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:80037355C>T ENST00000265081.6 + 11 1721 c.1641C>T c.(1639-1641)atC>atT p.I547I MSH3_ENST00000512258.1_3'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 547 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATCTGGAAATCCTACAGAATC 0.333000 Mismatch excision repair (MMR) 13 76 0 0 0.002450 0 0 ITIH4 3700 broad.mit.edu 37 3 52858519 52858519 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:52858519G>A ENST00000266041.4 - 8 1035 c.939C>T c.(937-939)atC>atT p.I313I ITIH4_ENST00000485816.1_Silent_p.I313I|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000346281.5_Silent_p.I313I|ITIH4_ENST00000434759.3_Silent_p.I225I|ITIH4_ENST00000406595.1_Silent_p.I313I NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 313 VWFA. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TACTGAAGACGATGAGGTTGA 0.577000 32 25 0 0 0.004289 0 0 PIK3R1 5295 broad.mit.edu 37 5 67586659 67586659 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:67586659C>T ENST00000336483.5 + 1 195 c.103C>T c.(103-105)Cca>Tca p.P35S PIK3R1_ENST00000274335.5_Intron|PIK3R1_ENST00000521381.1_Intron|PIK3R1_ENST00000320694.8_Intron|PIK3R1_ENST00000396611.1_Intron|PIK3R1_ENST00000521657.1_Intron NM_181504.3 NP_852556.2 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 305 SH3. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AATGGACCCACCAGGTAATAC 0.328000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 7 40 0 0 0.004482 0 0 OR2L8 391190 broad.mit.edu 37 1 248112235 248112235 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248112235T>C ENST00000357191.3 + 1 76 c.76T>C c.(76-78)Ttc>Ctc p.F26L OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TGACCTTTTCTTCTTCATTCT 0.393000 122 76 0 0 0.003610 0 0 PXDNL 137902 broad.mit.edu 37 8 52321203 52321203 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:52321203C>T ENST00000356297.4 - 17 3081 c.2981G>A c.(2980-2982)gGa>gAa p.G994E PXDNL_ENST00000543296.1_Missense_Mutation_p.G994E NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 994 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AACCGTGTTTCCCTCCCAGTG 0.637000 6 10 0 0 0.001168 0 0 NUP153 9972 broad.mit.edu 37 6 17649490 17649490 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:17649490G>A ENST00000262077.2 - 12 1436 c.1437C>T c.(1435-1437)atC>atT p.I479I NUP153_ENST00000537253.1_Silent_p.I510I NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 479 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) AAGAACTGGTGATCGGTAGAG 0.373000 12 85 0 0 0.001368 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917379 65917379 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:65917379G>A ENST00000261892.6 + 2 1248 c.961G>A c.(961-963)Ggg>Agg p.G321R SLC24A1_ENST00000399033.4_Missense_Mutation_p.G321R|SLC24A1_ENST00000339868.6_Missense_Mutation_p.G321R|SLC24A1_ENST00000546330.1_Missense_Mutation_p.G321R|SLC24A1_ENST00000544319.2_Missense_Mutation_p.G321R|SLC24A1_ENST00000537259.1_Missense_Mutation_p.G321R NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 321 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CACCTCTGAGGGGCAGGTGAC 0.567000 42 45 0 0 0.006230 0 0 ULBP3 79465 broad.mit.edu 37 6 150387223 150387223 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:150387223C>T ENST00000367339.1 - 2 192 c.164G>A c.(163-165)aGc>aAc p.S55N ULBP3_ENST00000438272.2_Missense_Mutation_p.S55N Q9BZM4 N2DL3_HUMAN UL16 binding protein 3 55 MHC class I alpha-1 like. antigen processing and presentation|immune response|natural killer cell activation anchored to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 9 Ovarian(120;0.12) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.45e-12) ATCCACCTGGCTCTGGACCTC 0.463000 51 17 0 0 0.003610 0 0 CACNA1D 776 broad.mit.edu 37 3 53757543 53757543 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:53757543C>T ENST00000288139.3 + 14 1927 c.1809C>T c.(1807-1809)ttC>ttT p.F603F CACNA1D_ENST00000422281.2_Silent_p.F583F|CACNA1D_ENST00000350061.5_Silent_p.F583F NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 583 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) AAGCATATTTCGTCTCTCTTT 0.488000 41 132 0 0 0.002222 0 0 FGF8 2253 broad.mit.edu 37 10 103530315 103530315 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:103530315G>A ENST00000347978.2 - 5 588 c.419C>T c.(418-420)gCg>gTg p.A140V FGF8_ENST00000346714.3_Missense_Mutation_p.A129V|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000344255.3_Missense_Mutation_p.A158V|FGF8_ENST00000320185.2_Missense_Mutation_p.A169V NM_006119.4 NP_006110.1 P55075 FGF8_HUMAN fibroblast growth factor 8 (androgen-induced) 158 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) ATTCTGCAGCGCTGTGTAGTT 0.622000 10 41 0 0 0.000978 0 0 TRPC4 7223 broad.mit.edu 37 13 38320211 38320211 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:38320211C>T ENST00000379705.3 - 3 1617 c.760G>A c.(760-762)Gac>Aac p.D254N TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.D254N|TRPC4_ENST00000355779.2_Missense_Mutation_p.D254N|TRPC4_ENST00000358477.2_Missense_Mutation_p.D254N|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.D254N|TRPC4_ENST00000379681.3_Missense_Mutation_p.D254N|TRPC4_ENST00000426868.2_Missense_Mutation_p.D254N Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 254 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCCAGTAGGTCCTTAGCAAAT 0.413000 29 46 0 0 0.002096 0 0 CHD3 1107 broad.mit.edu 37 17 7806292 7806292 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7806292C>T ENST00000380358.4 + 22 3586 c.3585C>T c.(3583-3585)acC>acT p.T1195T CHD3_ENST00000330494.7_Silent_p.T1136T|CHD3_ENST00000358181.4_Silent_p.T1136T NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1136 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TCCTGTCCACCCGAGCTGGGG 0.547000 13 48 0 0 0.001855 0 0 TAL2 6887 broad.mit.edu 37 9 108425076 108425076 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:108425076C>T ENST00000334077.3 + 1 339 c.299C>T c.(298-300)tCa>tTa p.S100L NM_005421.2 NP_005412.1 Q16559 TAL2_HUMAN T-cell acute lymphocytic leukemia 2 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding CAGGTTCCTTCACCTGGTCCA 0.572000 T TRB@ T-ALL 11 7 0 0 0.000978 0 0 FAM111B 374393 broad.mit.edu 37 11 58893522 58893522 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:58893522G>A ENST00000343597.3 + 4 2143 c.1952G>A c.(1951-1953)gGc>gAc p.G651D FAM111B_ENST00000411426.1_Missense_Mutation_p.G621D|FAM111B_ENST00000529618.1_Missense_Mutation_p.G621D NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 651 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 GGGTCCTCAGGCTCCCCAGTG 0.398000 31 29 0 0 0.002096 0 0 FAM47A 158724 broad.mit.edu 37 X 34150306 34150306 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:34150306G>A ENST00000346193.3 - 1 141 c.90C>T c.(88-90)ttC>ttT p.F30F NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 30 p.F30F(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TGCACTTCGCGAAGCACTTGG 0.617000 46 7 0 0 0.003610 0 0 CD164L2 388611 broad.mit.edu 37 1 27706630 27706630 + Silent SNP G G A rs145796710 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:27706630G>A ENST00000374027.3 - 5 492 c.429C>T c.(427-429)atC>atT p.I143I CD164L2_ENST00000374030.1_Silent_p.I143I NM_207397.2 NP_997280.1 Q6UWJ8 C16L2_HUMAN CD164 sialomucin-like 2 143 integral to membrane endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CGACACCTCCGATAAAGCTGG 0.612000 25 42 0 0 0.004656 0 0 SLC38A1 81539 broad.mit.edu 37 12 46582833 46582833 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:46582833C>T ENST00000398637.5 - 17 2078 c.1384G>A c.(1384-1386)Ggg>Agg p.G462R SLC38A1_ENST00000549049.1_Missense_Mutation_p.G462R|SLC38A1_ENST00000439706.1_Missense_Mutation_p.G462R|SLC38A1_ENST00000546893.1_Missense_Mutation_p.G462R NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 462 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) AACAACACCCCCAGGCCCAAG 0.483000 19 48 0 0 0.001882 0 0 LDB2 9079 broad.mit.edu 37 4 16590354 16590354 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:16590354C>T ENST00000502640.1 - 4 658 c.510G>A c.(508-510)ccG>ccA p.P170P LDB2_ENST00000503178.2_Silent_p.P46P|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000304523.5_Silent_p.P170P|LDB2_ENST00000515064.1_Silent_p.P170P|LDB2_ENST00000441778.2_Silent_p.P170P O43679 LDB2_HUMAN LIM domain binding 2 170 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GGATGCTTCTCGGGACTAACT 0.388000 19 27 0 0 0.001882 0 0 DNAH2 146754 broad.mit.edu 37 17 7682739 7682739 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7682739C>T ENST00000572933.1 + 36 7180 c.5720C>T c.(5719-5721)cCt>cTt p.P1907L DNAH2_ENST00000389173.2_Missense_Mutation_p.P1907L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1907 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCATGAATCCTGGTAGGTGG 0.537000 12 17 0 0 0.001855 0 0 GALP 85569 broad.mit.edu 37 19 56688529 56688529 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:56688529C>T ENST00000357330.2 + 2 134 c.52C>T c.(52-54)Ctg>Ttg p.L18L GALP_ENST00000590002.1_Silent_p.L18L|GALP_ENST00000440823.1_Silent_p.L18L NM_033106.3 NP_149097.1 Q9UBC7 GALP_HUMAN galanin-like peptide 18 neuropeptide signaling pathway extracellular region hormone activity lung(4) 4 Colorectal(82;0.000147)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0507) CTTGCTGAGCCTGGCAGAGAC 0.622000 7 29 0 0 0.004482 0 0 NEB 4703 broad.mit.edu 37 2 152534195 152534195 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:152534195C>T ENST00000427231.2 - 34 3860 c.3658G>A c.(3658-3660)Ggt>Agt p.G1220S NEB_ENST00000603639.1_Missense_Mutation_p.G1220S|NEB_ENST00000604864.1_Missense_Mutation_p.G1220S|NEB_ENST00000409198.1_Missense_Mutation_p.G1220S|NEB_ENST00000172853.10_Missense_Mutation_p.G1220S|NEB_ENST00000397345.3_Missense_Mutation_p.G1220S NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1220 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGAGCATCACCGGCCTTTTTA 0.453000 52 177 0 0 0.003610 0 0 DZIP1L 199221 broad.mit.edu 37 3 137781670 137781670 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:137781670G>A ENST00000327532.2 - 16 2654 c.2292C>T c.(2290-2292)gtC>gtT p.V764V NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 764 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 ACCAGGCAGGGACCCTGGGTT 0.597000 90 251 0 0 0.003610 0 0 IGSF1 3547 broad.mit.edu 37 X 130408083 130408083 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:130408083C>T ENST00000370904.1 - 25 4732 c.3822G>A c.(3820-3822)tgG>tgA p.W1274* IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W1288*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.W1283*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W1274* Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1283 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GCCACTTCTTCCACTCTATGG 0.507000 57 67 0 0 0.003610 0 0 IL1R1 3554 broad.mit.edu 37 2 102782592 102782592 + Missense_Mutation SNP T T G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:102782592T>G ENST00000410023.1 + 6 824 c.506T>G c.(505-507)cTt>cGt p.L169R IL1R1_ENST00000424272.1_Missense_Mutation_p.L169R|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409929.1_Missense_Mutation_p.L169R|IL1R1_ENST00000409329.1_Missense_Mutation_p.L169R|IL1R1_ENST00000409288.1_Missense_Mutation_p.L169R|IL1R1_ENST00000233946.3_Missense_Mutation_p.L169R P14778 IL1R1_HUMAN interleukin 1 receptor, type I 169 Ig-like C2-type 2. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) CCTCTACTTCTTGACAATATA 0.398000 23 17 0 0 0.003330 0 0 TOX2 84969 broad.mit.edu 37 20 42694442 42694442 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:42694442G>A ENST00000358131.5 + 6 1205 c.997G>A c.(997-999)Ggc>Agc p.G333S TOX2_ENST00000341197.3_Missense_Mutation_p.G351S|TOX2_ENST00000372999.1_Missense_Mutation_p.G309S|TOX2_ENST00000435864.2_Missense_Mutation_p.G229S|TOX2_ENST00000423191.1_Missense_Mutation_p.G309S NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TGCCATGCCAGGCCTGGCCTC 0.652000 103 96 0 0 0.003610 0 0 GPC5 2262 broad.mit.edu 37 13 93518683 93518683 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:93518683G>A ENST00000377067.3 + 8 2082 c.1710G>A c.(1708-1710)ggG>ggA p.G570G NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 570 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TACTTCCCGGGATTTGGTAAC 0.433000 29 34 0 0 0.004289 0 0 MUC16 94025 broad.mit.edu 37 19 9085046 9085046 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9085046C>T ENST00000397910.4 - 1 6972 c.6769G>A c.(6769-6771)Gat>Aat p.D2257N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2257 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTTCAGTATCAGGGGAGGGG 0.463000 17 14 0 0 0.006122 0 0 CEP97 79598 broad.mit.edu 37 3 101446231 101446231 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:101446231C>T ENST00000341893.3 + 3 943 c.191C>T c.(190-192)tCa>tTa p.S64L CEP97_ENST00000327230.4_Missense_Mutation_p.S64L|CEP97_ENST00000494050.1_Missense_Mutation_p.S64L Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 64 centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 TTACAGTTATCAGTAGCTAAT 0.348000 18 54 0 0 0.001216 0 0 PHF2 5253 broad.mit.edu 37 9 96429433 96429433 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:96429433C>T ENST00000359246.4 + 17 2626 c.2259C>T c.(2257-2259)gtC>gtT p.V753V PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 753 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) ATGCCAGAGTCAAGAAGGAGA 0.642000 14 17 0 0 0.002450 0 0 T 6862 broad.mit.edu 37 6 166571986 166571986 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:166571986G>A ENST00000296946.2 - 9 1593 c.1125C>T c.(1123-1125)ttC>ttT p.F375F T_ENST00000366871.3_Silent_p.F317F NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 375 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) AGCCCCGGAAGAACTGGGCCC 0.701000 Chordoma, Familial Clustering of 20 1 0 0 0.007413 0 0 TLL2 7093 broad.mit.edu 37 10 98155732 98155732 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:98155732G>A ENST00000357947.3 - 12 1655 c.1430C>T c.(1429-1431)tCt>tTt p.S477F TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 477 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) ATAGTTGGGAGATTGAATCTG 0.498000 OREG0020398 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 56 0 0 0.007291 0 0 FSCN3 29999 broad.mit.edu 37 7 127236431 127236431 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:127236431C>T ENST00000265825.5 + 3 1110 c.891C>T c.(889-891)ttC>ttT p.F297F FSCN3_ENST00000420086.2_Silent_p.F163F NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 297 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 TGTCCTTGTTCCAGTTTGAAT 0.542000 37 225 0 0 0.004878 0 0 MUSK 4593 broad.mit.edu 37 9 113547100 113547100 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:113547100C>T ENST00000416899.2 + 10 1492 c.1366C>T c.(1366-1368)Cca>Tca p.P456S MUSK_ENST00000374438.1_Intron|MUSK_ENST00000374448.4_Missense_Mutation_p.P464S|MUSK_ENST00000189978.5_Missense_Mutation_p.P464S O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 464 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TACAGCATTCCCACCAATGAC 0.348000 20 28 0 0 0.001216 0 0 USP29 57663 broad.mit.edu 37 19 57641478 57641478 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:57641478G>A ENST00000254181.4 + 4 1889 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K USP29_ENST00000598197.1_Missense_Mutation_p.E479K NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 479 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTTCTTTAAAGAAGAAGAGCT 0.373000 40 53 0 0 0.006999 0 0 ITPKC 80271 broad.mit.edu 37 19 41235202 41235202 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:41235202C>T ENST00000263370.2 + 3 1384 c.1351C>T c.(1351-1353)Cct>Tct p.P451S NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 451 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCCGCTGCGACCTTTCGTGCC 0.557000 16 35 0 0 0.001216 0 0 CUBNP3 100421634 broad.mit.edu 37 10 45644272 45644272 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:45644272G>A ENST00000427229.2 + 0 443 CCAAATCAGGGAAATTCATCT 0.373000 13 19 0 0 0.001855 0 0 PRSS50 29122 broad.mit.edu 37 3 46758961 46758961 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:46758961G>A ENST00000460241.1 - 7 1943 c.273C>T c.(271-273)ttC>ttT p.F91F PRSS50_ENST00000315170.7_Silent_p.F91F Q9UI38 TSP50_HUMAN protease, serine, 50 91 proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 CAGAAACTGGGAATTGGGTCT 0.607000 14 41 0 0 0.007413 0 0 OR12D3 81797 broad.mit.edu 37 6 29342252 29342252 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:29342252C>T ENST00000396806.3 - 1 816 c.813G>A c.(811-813)cgG>cgA p.R271R OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 TGGCCATTATCCGGTCCTGAA 0.463000 16 72 0 0 0.003163 0 0 SLC5A11 115584 broad.mit.edu 37 16 24881266 24881266 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:24881266C>T ENST00000347898.3 + 4 874 c.252C>T c.(250-252)ttC>ttT p.F84F SLC5A11_ENST00000539472.1_Silent_p.F20F|SLC5A11_ENST00000424767.2_Silent_p.F84F|SLC5A11_ENST00000567758.1_Silent_p.F84F|SLC5A11_ENST00000545376.1_Intron|SLC5A11_ENST00000449109.2_Silent_p.F20F|SLC5A11_ENST00000565769.1_Silent_p.F20F|SLC5A11_ENST00000568579.1_Intron|SLC5A11_ENST00000569071.1_Silent_p.F20F NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 84 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) GTGGACATTTCATTGGCCTGG 0.488000 22 39 0 0 0.004656 0 0 PTCD2 79810 broad.mit.edu 37 5 71631620 71631620 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:71631620G>A ENST00000380639.5 + 6 563 c.e6-1 PTCD2_ENST00000536805.1_Splice_Site|PTCD2_ENST00000503868.1_Splice_Site|PTCD2_ENST00000543322.1_Splice_Site|PTCD2_ENST00000460837.2_3'UTR NM_024754.3 NP_079030.3 Q8WV60 PTCD2_HUMAN pentatricopeptide repeat domain 2 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) ACTTTTGGCAGGTGCTTTGCA 0.408000 37 17 0 0 0.006999 0 0 SNHG14 104472715 broad.mit.edu 37 15 25456851 25456851 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:25456851C>T ENST00000424208.1 + 0 2482 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 AGCTCAGGCCCTTCCTGGCCC 0.617000 24 21 0 0 0.002299 0 0 CELSR1 9620 broad.mit.edu 37 22 46932282 46932282 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:46932282G>A ENST00000262738.3 - 1 785 c.786C>T c.(784-786)acC>acT p.T262T CELSR1_ENST00000395964.1_Silent_p.T262T NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 262 Cadherin 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGAGGATGAGGGTGCCCGCCG 0.667000 56 21 0 0 0.003610 0 0 SLC34A1 6569 broad.mit.edu 37 5 176821091 176821091 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176821091G>A ENST00000324417.5 + 10 1160 c.1069G>A c.(1069-1071)Gga>Aga p.G357R SLC34A1_ENST00000513614.1_Intron NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 357 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTGCTGGCAGGATCCCTGGT 0.602000 38 218 0 0 0.002852 0 0 OR2T6 254879 broad.mit.edu 37 1 248551537 248551537 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248551537C>T ENST00000355728.2 + 1 628 c.628C>T c.(628-630)Ccc>Tcc p.P210S NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTGCTGATCCCCTTCTCGGT 0.532000 19 53 0 0 0.001523 0 0 CILP 8483 broad.mit.edu 37 15 65490910 65490910 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:65490910G>A ENST00000261883.4 - 9 1880 c.1714C>T c.(1714-1716)Cgt>Tgt p.R572C NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 572 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 TTTTTCCGACGAAGCATCTTG 0.507000 32 41 0 0 0.002836 0 0 GPR137 56834 broad.mit.edu 37 11 64056833 64056833 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:64056833C>T ENST00000411458.1 + 9 1452 c.1424C>T c.(1423-1425)cCc>cTc p.P475L GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P417L|GPR137_ENST00000438980.2_3'UTR NM_001170726.1 NP_001164197.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 417 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 GTGCCGTCCCCCTAGGATGGG 0.652000 33 33 0 0 0.003271 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802718 185802718 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:185802718C>T ENST00000302277.6 + 4 3189 c.2595C>T c.(2593-2595)atC>atT p.I865I NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 865 intracellular zinc ion binding p.I865I(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTGCAAAAATCGAAAGGAACT 0.358000 17 23 0 0 0.007413 0 0 MICA 100507436 broad.mit.edu 37 6 31379747 31379747 + Missense_Mutation SNP C C G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:31379747C>G ENST00000449934.2 + 4 691 c.637C>G c.(637-639)Cgc>Ggc p.R213G HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 Q29983 MICA_HUMAN MHC class I polypeptide-related sequence A 213 Ig-like C1-type. antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) GAATGTCACCCGCAGCGAGGC 0.572000 41 24 0 0 0.003610 0 0 LBP 3929 broad.mit.edu 37 20 36999435 36999435 + Silent SNP C C T rs146457097 byFrequency TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:36999435C>T ENST00000217407.2 + 11 1364 c.1203C>T c.(1201-1203)ttC>ttT p.F401F NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 401 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) TCACTGGGTTCCTGAAGCCAG 0.527000 52 232 0 0 0.003610 0 0 ZNF416 55659 broad.mit.edu 37 19 58084958 58084958 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:58084958G>A ENST00000196489.3 - 4 536 c.314C>T c.(313-315)tCc>tTc p.S105F NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 105 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CATGTCACAGGATTGAATCTT 0.522000 25 28 0 0 0.003330 0 0 GPR78 27201 broad.mit.edu 37 4 8588793 8588793 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:8588793C>T ENST00000382487.4 + 3 1212 c.795C>T c.(793-795)ctC>ctT p.L265L GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 265 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 TGGCGGAGCTCGTGCCCTTCG 0.637000 6 8 0 0 0.001168 0 0 CILP 8483 broad.mit.edu 37 15 65489927 65489927 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:65489927G>A ENST00000261883.4 - 9 2863 c.2697C>T c.(2695-2697)ctC>ctT p.L899L NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 899 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CACATGCCCGGAGGTTCTCAA 0.532000 29 44 0 0 0.007291 0 0 ARRDC2 27106 broad.mit.edu 37 19 18120704 18120704 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:18120704G>A ENST00000222250.4 + 5 848 c.705G>A c.(703-705)caG>caA p.Q235Q ARRDC2_ENST00000379656.2_Silent_p.Q230Q NM_015683.1 NP_056498.1 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 235 endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1) 12 CCCGAAAGCAGAAACGGGCAG 0.706000 20 32 0 0 0.007413 0 0 DAOA 267012 broad.mit.edu 37 13 106124949 106124949 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:106124949G>A ENST00000375936.3 + 3 242 c.196G>A c.(196-198)Gag>Aag p.E66K DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA NM_001161812.1|NM_172370.3 NP_001155284.1|NP_758958.3 P59103 DAOA_HUMAN D-amino acid oxidase activator 66 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) GAGAAGGCATGAGGACGGCTA 0.413000 14 7 0 0 0.001855 0 0 HERC1 8925 broad.mit.edu 37 15 64067531 64067531 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:64067531G>A ENST00000443617.2 - 2 379 c.292C>T c.(292-294)Cca>Tca p.P98S NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 98 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CCGGCAAATGGGGAATCTGAA 0.458000 25 29 0 0 0.002780 0 0 HSPA12B 116835 broad.mit.edu 37 20 3725570 3725570 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:3725570G>A ENST00000254963.2 + 5 433 c.288G>A c.(286-288)ccG>ccA p.P96P HSPA12B_ENST00000542646.1_5'UTR NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 96 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 GCGGAGACCCGGGCGTGGCCC 0.632000 22 11 0 0 0.001882 0 0 KNDC1 85442 broad.mit.edu 37 10 135032539 135032539 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:135032539G>A ENST00000304613.3 + 28 4826 c.4805G>A c.(4804-4806)tGg>tAg p.W1602* KNDC1_ENST00000368572.2_Nonsense_Mutation_p.W1604* Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1602 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TTTCAGGCCTGGAGAATTCTG 0.657000 13 13 0 0 0.001855 0 0 EPPK1 83481 broad.mit.edu 37 8 144947005 144947005 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:144947005C>T ENST00000525985.1 - 2 488 c.417G>A c.(415-417)aaG>aaA p.K139K P58107 EPIPL_HUMAN epiplakin 1 139 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCACAACCTCCTTCCCGATGG 0.677000 6 22 0 0 0.001984 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921091 12921091 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:12921091C>T ENST00000240189.2 + 4 969 c.882C>T c.(880-882)ccC>ccT p.P294P NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 294 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCCAGAACCCCTTGGAGAACT 0.458000 21 59 0 0 0.003330 0 0 ODF2 4957 broad.mit.edu 37 9 131254717 131254717 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:131254717C>T ENST00000303890.5 + 17 2062 c.1477C>T c.(1477-1479)Cca>Tca p.P493S ODF2_ENST00000434106.2_Missense_Mutation_p.P517S|ODF2_ENST00000351030.3_Missense_Mutation_p.P512S|ODF2_ENST00000546203.1_Missense_Mutation_p.P498S|ODF2_ENST00000393533.2_Missense_Mutation_p.P517S|ODF2_ENST00000372791.3_Missense_Mutation_p.P498S|ODF2_ENST00000448249.3_Missense_Mutation_p.P436S|ODF2_ENST00000372807.5_Missense_Mutation_p.P512S|ODF2_ENST00000372814.3_Missense_Mutation_p.P561S|ODF2_ENST00000372796.4_Missense_Mutation_p.P517S|ODF2_ENST00000444119.2_Missense_Mutation_p.P493S NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 517 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 CAGCTTTGCTCCAATGGAGGA 0.507000 15 36 0 0 0.006122 0 0 NOMO1 23420 broad.mit.edu 37 16 14947412 14947412 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:14947412A>C ENST00000287667.7 + 8 995 c.824A>C c.(823-825)gAa>gCa p.E275A NOMO1_ENST00000566883.1_3'UTR NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 275 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 GTCTCCAGAGAAGATGGCTCG 0.517000 106 123 0 0 0.003610 0 0 GRIA1 2890 broad.mit.edu 37 5 153029980 153029980 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:153029980G>A ENST00000285900.5 + 4 894 c.551G>A c.(550-552)gGa>gAa p.G184E GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Missense_Mutation_p.G194E|GRIA1_ENST00000521843.2_Missense_Mutation_p.G115E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G104E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G184E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G194E NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 184 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ACAGAGGAGGGATACCGGATG 0.512000 20 85 0 0 0.002299 0 0 DSP 1832 broad.mit.edu 37 6 7583607 7583607 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:7583607A>G ENST00000379802.3 + 24 6453 c.6112A>G c.(6112-6114)Aaa>Gaa p.K2038E DSP_ENST00000418664.2_Missense_Mutation_p.K1439E NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2038 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CAAGAGAAAGAAATTAATCAG 0.488000 36 79 0 0 0.004289 0 0 ZNF878 729747 broad.mit.edu 37 19 12155424 12155424 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:12155424G>A ENST00000602107.1 - 5 932 c.933C>T c.(931-933)ttC>ttT p.F311F CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Silent_p.F264F|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TGGGACAATTGAAGGCTTTAT 0.408000 34 21 0 0 0.002445 0 0 PLEKHG7 440107 broad.mit.edu 37 12 93139298 93139298 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:93139298G>A ENST00000344636.3 + 5 430 c.246G>A c.(244-246)ctG>ctA p.L82L PLEKHG7_ENST00000549856.1_Silent_p.L82L NM_001004330.2 NP_001004330.1 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 7 82 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1) 17 CCTACTGCCTGAACTATTCAG 0.403000 56 16 0 0 0.003610 0 0 RADIL 55698 broad.mit.edu 37 7 4839353 4839353 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:4839353C>T ENST00000399583.3 - 14 3217 c.3030G>A c.(3028-3030)ccG>ccA p.P1010P RADIL_ENST00000538469.1_Silent_p.P770P|RADIL_ENST00000536091.1_3'UTR NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 1010 PDZ. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CGGGGCTGCCCGGGAGCAGGG 0.716000 12 3 0 0 0.002450 0 0 SI 6476 broad.mit.edu 37 3 164776809 164776809 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:164776809C>T ENST00000264382.3 - 12 1402 c.1340G>A c.(1339-1341)gGa>gAa p.G447E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 447 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTGTGTGTTTCCCCTCTCATA 0.353000 HNSCC(35;0.089) 11 17 0 0 0.001855 0 0 MKI67 4288 broad.mit.edu 37 10 129911697 129911697 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:129911697G>A ENST00000368654.3 - 8 2025 c.1650C>T c.(1648-1650)atC>atT p.I550I MKI67_ENST00000368653.3_Silent_p.I190I NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 550 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCACCTTGATGATTTTCTTCA 0.458000 39 95 0 0 0.007835 0 0 TRIM58 25893 broad.mit.edu 37 1 248039313 248039313 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248039313G>A ENST00000366481.3 + 6 1031 c.983G>A c.(982-984)cGa>cAa p.R328Q OR2W3_ENST00000537741.1_5'UTR NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 328 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AACCCTGAGCGATTTGACACA 0.602000 33 23 0 0 0.002445 0 0 MED12L 116931 broad.mit.edu 37 3 151094947 151094947 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:151094947G>A ENST00000474524.1 + 28 4230 c.4192G>A c.(4192-4194)Gga>Aga p.G1398R P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G1258R NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1398 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAGACAGAATGGAATAAAGAC 0.368000 8 29 0 0 0.000978 0 0 SNTG2 54221 broad.mit.edu 37 2 1168853 1168853 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:1168853G>A ENST00000308624.5 + 8 704 c.575G>A c.(574-576)gGa>gAa p.G192E SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 192 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CATCTGAACGGAAACTCCAGT 0.443000 81 76 0 0 0.003610 0 0 ROR1 4919 broad.mit.edu 37 1 64643679 64643679 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:64643679C>T ENST00000371079.1 + 9 2330 c.1955C>T c.(1954-1956)tCc>tTc p.S652F ROR1_ENST00000545203.1_Missense_Mutation_p.S103F NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 652 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CAGAGTAAGTCCTTGCTGCCC 0.453000 22 39 0 0 0.002780 0 0 CAMK2A 815 broad.mit.edu 37 5 149602733 149602733 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:149602733G>A ENST00000348628.6 - 17 1917 c.1252C>T c.(1252-1254)Cac>Tac p.H418Y CAMK2A_ENST00000398376.3_Missense_Mutation_p.H429Y|CAMK2A_ENST00000351010.6_5'UTR NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha 418 interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGTGGATGTGGGGATTCAGG 0.652000 9 71 0 0 0.000978 0 0 OR11H12 440153 broad.mit.edu 37 14 19378093 19378093 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:19378093G>A ENST00000550708.1 + 1 572 c.500G>A c.(499-501)gGa>gAa p.G167E NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGGTTTGTGGATTTCTGTGG 0.488000 28 402 0 0 0.003610 0 0 LONP2 83752 broad.mit.edu 37 16 48381495 48381495 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:48381495G>A ENST00000285737.4 + 13 2109 c.2016G>A c.(2014-2016)gtG>gtA p.V672V LONP2_ENST00000535754.1_Silent_p.V628V NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 672 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TCATGTTCGTGGAGGCGAGTC 0.547000 31 16 0 0 0.003755 0 0 GRIK3 2899 broad.mit.edu 37 1 37356674 37356674 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:37356674C>T ENST00000373091.3 - 2 155 c.139G>A c.(139-141)Ggc>Agc p.G47S GRIK3_ENST00000373093.4_Missense_Mutation_p.G47S NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 47 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GCGTTGGGGCCGTCCGCATAC 0.512000 47 52 0 0 0.003610 0 0 BAZ2A 11176 broad.mit.edu 37 12 57011244 57011244 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57011244G>A ENST00000179765.5 - 2 270 c.71C>T c.(70-72)tCt>tTt p.S24F BAZ2A_ENST00000551812.1_Missense_Mutation_p.S26F|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S26F|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S24F Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 26 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 TGAGGAAGGAGAGGGTTTCAG 0.557000 4 49 0 0 0.000602 0 0 SCN11A 11280 broad.mit.edu 37 3 38968311 38968311 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:38968311G>A ENST00000450244.1 - 4 798 c.600C>T c.(598-600)tcC>tcT p.S200S SCN11A_ENST00000456224.3_Silent_p.S200S|SCN11A_ENST00000302328.3_Silent_p.S200S|SCN11A_ENST00000444237.2_Silent_p.S200S Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 200 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAATGACAATGGAGTCCAGCC 0.398000 27 121 0 0 0.006320 0 0 PIGR 5284 broad.mit.edu 37 1 207112646 207112646 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:207112646G>A ENST00000356495.4 - 3 389 c.206C>T c.(205-207)tCc>tTc p.S69F NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 69 Ig-like V-type 1. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCCCTCCGAGGAGATGAGGGT 0.587000 8 40 0 0 0.000673 0 0 GCOM1 145781 broad.mit.edu 37 15 57896505 57896505 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:57896505G>A ENST00000574161.1 + 2 233 c.114G>A c.(112-114)gaG>gaA p.E38E GCOM1_ENST00000380561.2_Silent_p.E38E|GCOM1_ENST00000396180.1_Silent_p.E38E|GCOM1_ENST00000587652.1_Silent_p.E38E|MYZAP_ENST00000267853.5_Silent_p.E38E|GCOM1_ENST00000380569.2_Silent_p.E38E|GCOM1_ENST00000380568.3_Silent_p.E38E|GCOM1_ENST00000572390.1_Silent_p.E38E|GCOM1_ENST00000380560.2_Silent_p.E38E|MYZAP_ENST00000380565.4_Silent_p.E38E|POLR2M_ENST00000380563.2_5'UTR NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 38 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 TACCTCCTGAGAGTCCAGTTC 0.493000 128 152 0 0 0.003610 0 0 KRT74 121391 broad.mit.edu 37 12 52967412 52967412 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:52967412G>A ENST00000549343.1 - 1 188 c.150C>T c.(148-150)ctC>ctT p.L50L KRT74_ENST00000305620.2_Silent_p.L50L Q7RTS7 K2C74_HUMAN keratin 74 50 Gly-rich.|Head. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) CAAGGCTATAGAGGCTCCGAC 0.612000 12 62 0 0 0.000978 0 0 SAGE1 55511 broad.mit.edu 37 X 134990381 134990381 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:134990381G>A ENST00000535938.1 + 11 1460 c.1293G>A c.(1291-1293)agG>agA p.R431R SAGE1_ENST00000370709.3_Silent_p.R431R|SAGE1_ENST00000324447.3_Silent_p.R431R|SAGE1_ENST00000537770.1_Intron NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 431 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TGAGTACCAGGGATCAGTGTA 0.398000 38 6 0 0 0.003214 0 0 ZP4 57829 broad.mit.edu 37 1 238049117 238049117 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:238049117G>A ENST00000366570.4 - 7 1067 c.909C>T c.(907-909)ctC>ctT p.L303L RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 303 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGGGTGGTGGGAGAGTGAAAA 0.502000 15 64 0 0 0.004007 0 0 TRIM60 166655 broad.mit.edu 37 4 165961360 165961360 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:165961360G>A ENST00000512596.1 + 3 352 c.136G>A c.(136-138)Gat>Aat p.D46N TRIM60_ENST00000341062.5_Missense_Mutation_p.D46N|TRIM60_ENST00000508504.1_Missense_Mutation_p.D46N NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 46 intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) ATCCTGGAAGGATCTAGATGA 0.493000 30 81 0 0 0.001786 0 0 OTOL1 131149 broad.mit.edu 37 3 161214732 161214732 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:161214732C>T ENST00000327928.4 + 1 137 c.137C>T c.(136-138)cCa>cTa p.P46L NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 46 collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 GGTCTAAAGCCATCCAGTGGC 0.443000 30 20 0 0 0.006320 0 0 TPTE2 93492 broad.mit.edu 37 13 20024470 20024470 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:20024470C>T ENST00000400230.2 - 12 861 c.817G>A c.(817-819)Gat>Aat p.D273N TPTE2_ENST00000255310.6_Missense_Mutation_p.D196N|TPTE2_ENST00000382978.1_Missense_Mutation_p.D233N|TPTE2_ENST00000400103.2_Missense_Mutation_p.D162N|TPTE2_ENST00000390680.2_Missense_Mutation_p.D196N|TPTE2_ENST00000382977.4_Missense_Mutation_p.D273N|TPTE2_ENST00000382975.4_Missense_Mutation_p.D233N|TPTE2_ENST00000457266.2_Missense_Mutation_p.D162N Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 273 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TGCTTAGGATCATAAGCTCTT 0.299000 34 61 0 0 0.005524 0 0 RASGRP1 10125 broad.mit.edu 37 15 38782889 38782889 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:38782889C>T ENST00000310803.5 - 17 2437 c.2259_splice c.e17-1 p.E754_splice RASGRP1_ENST00000539159.1_Splice_Site_p.E706_splice|RASGRP1_ENST00000561180.1_Splice_Site_p.E805_splice|RASGRP1_ENST00000450598.2_Splice_Site_p.E719_splice|RASGRP1_ENST00000559830.1_Splice_Site_p.G590_splice|RASGRP1_ENST00000558164.1_Splice_Site_p.G539_splice NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 754 PT region; mediates the BCR-dependent translocation to plasma membrane (By similarity). cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) GTATTTATTTCCTAAAGGGAA 0.343000 10 56 0 0 0.000673 0 0 FGFBP3 143282 broad.mit.edu 37 10 93668634 93668634 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:93668634C>T ENST00000311575.5 - 2 256 c.93G>A c.(91-93)ggG>ggA p.G31G NM_152429.4 NP_689642.3 Q8TAT2 FGFP3_HUMAN fibroblast growth factor binding protein 3 31 positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability extracellular region fibroblast growth factor binding|heparin binding large_intestine(1)|prostate(1) 2 Colorectal(252;0.162) TGCTAGCCGCCCCTTTCTCCC 0.716000 4 9 0 0 0.001168 0 0 SENP2 59343 broad.mit.edu 37 3 185337194 185337194 + Silent SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:185337194T>C ENST00000296257.5 + 13 1590 c.1350T>C c.(1348-1350)ggT>ggC p.G450G SENP2_ENST00000427465.2_Silent_p.G274G|SENP2_ENST00000545472.1_Silent_p.G440G NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 450 Protease. mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) AGTCTGGGGGTTACCAAGCAG 0.393000 278 249 0 0 0.003610 0 0 PHF20 51230 broad.mit.edu 37 20 34446251 34446251 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:34446251G>A ENST00000374012.3 + 5 497 c.368G>A c.(367-369)gGa>gAa p.G123E PHF20_ENST00000481202.1_Intron|PHF20_ENST00000439301.1_Missense_Mutation_p.G123E Q9BVI0 PHF20_HUMAN PHD finger protein 20 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) TTTTATGATGGAGTAGTTCAG 0.303000 39 75 0 0 0.002222 0 0 PRDM1 639 broad.mit.edu 37 6 106553680 106553680 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:106553680C>T ENST00000369096.4 + 5 1879 c.1645C>T c.(1645-1647)Ctc>Ttc p.L549F PRDM1_ENST00000369091.2_Missense_Mutation_p.L513F|PRDM1_ENST00000369089.3_Missense_Mutation_p.L415F NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 549 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) AGCCATGAATCTCATTAAAAA 0.552000 """D, N, Mis, F, S""" DLBCL 21 4 0 0 0.001882 0 0 DGKK 139189 broad.mit.edu 37 X 50130633 50130633 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:50130633C>T ENST00000376025.2 - 0 2096 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CAAAATCTTCCACAGCTGAAC 0.408000 26 5 0 0 0.007291 0 0 FOXN1 8456 broad.mit.edu 37 17 26856124 26856124 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:26856124G>A ENST00000226247.2 + 4 741 c.712G>A c.(712-714)Ggt>Agt p.G238S FOXN1_ENST00000579795.1_Missense_Mutation_p.G238S NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 238 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CTCGCCAGGTGGTGGCAGCTA 0.577000 10 56 0 0 0.000673 0 0 TP53BP1 7158 broad.mit.edu 37 15 43784542 43784542 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:43784542G>A ENST00000263801.3 - 2 369 c.117C>T c.(115-117)caC>caT p.H39H TP53BP1_ENST00000382039.3_Silent_p.H44H|TP53BP1_ENST00000382044.4_Silent_p.H44H|TP53BP1_ENST00000450115.2_Silent_p.H44H NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 39 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GCATACTGAAGTGAGAACCAG 0.418000 Other conserved DNA damage response genes 38 94 0 0 0.006230 0 0 CIDECP 152302 broad.mit.edu 37 3 10059673 10059673 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:10059673G>A ENST00000432401.1 - 0 505 CTGTGGCATCGAGGAGCTGCT 0.607000 7 32 0 0 0.001984 0 0 TNIK 23043 broad.mit.edu 37 3 170879094 170879094 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:170879094C>T ENST00000436636.2 - 11 1325 c.981G>A c.(979-981)gaG>gaA p.E327E TNIK_ENST00000460047.1_Silent_p.E327E|TNIK_ENST00000488470.1_Silent_p.E327E|TNIK_ENST00000369326.5_Silent_p.E327E|TNIK_ENST00000357327.5_Silent_p.E327E|TNIK_ENST00000341852.6_Silent_p.E327E|TNIK_ENST00000284483.8_Silent_p.E327E|TNIK_ENST00000538048.1_Silent_p.E327E|TNIK_ENST00000475336.1_Silent_p.E327E|TNIK_ENST00000470834.1_Silent_p.E327E NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 327 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CCTCTTCTTCCTCACTTCCAC 0.448000 17 35 0 0 0.006122 0 0 SNHG14 104472715 broad.mit.edu 37 15 25324070 25324070 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:25324070C>T ENST00000549804.2 + 0 1305 TTGGGAGATCCCTGGAGATGG 0.512000 3 4 0 0 0.004672 0 0 MSMB 4477 broad.mit.edu 37 10 51555799 51555799 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:51555799C>T ENST00000358559.2 + 2 159 c.72C>T c.(70-72)ttC>ttT p.F24F MSMB_ENST00000298239.6_Silent_p.F24F|MSMB_ENST00000474170.1_3'UTR NM_002443.3 NP_002434.1 P08118 MSMB_HUMAN microseminoprotein, beta- 24 extracellular space|nucleus lung(4)|ovary(2)|prostate(1) 7 CATGCTATTTCATACCTAATG 0.438000 10 30 0 0 0.000978 0 0 OGFR 11054 broad.mit.edu 37 20 61445075 61445075 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:61445075G>A ENST00000370468.3 + 8 1386 c.1361G>A c.(1360-1362)gGg>gAg p.G454E OGFR_ENST00000290291.6_3'UTR|OGFR_ENST00000370461.1_3'UTR Q9NZT2 OGFR_HUMAN opioid growth factor receptor 0 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) AGCTGCTGCGGGCTCCCCTCA 0.657000 17 18 0 0 0.001216 0 0 LYST 1130 broad.mit.edu 37 1 235866166 235866166 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:235866166G>A ENST00000389794.3 - 45 10429 c.10255C>T c.(10255-10257)Cat>Tat p.H3419Y LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.H3419Y Q99698 LYST_HUMAN lysosomal trafficking regulator 3419 BEACH. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CTGCTCACATGGGCCATGTGG 0.522000 66 221 0 0 0.003610 0 0 GINS2 51659 broad.mit.edu 37 16 85721087 85721087 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:85721087G>A ENST00000253462.3 - 2 284 c.184C>T c.(184-186)Cct>Tct p.P62S NM_016095.2 NP_057179.1 Q9Y248 PSF2_HUMAN GINS complex subunit 2 (Psf2 homolog) 62 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle nucleoplasm protein binding endometrium(2)|large_intestine(2)|lung(2) 6 CACTCTGGAGGGAGCAGGCGA 0.597000 17 63 0 0 0.001523 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162268 33162268 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:33162268C>T ENST00000510327.1 - 0 346 GTTTCTCTTTCCAGCCAGCGC 0.463000 15 13 0 0 0.003163 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894484 78894484 + Missense_Mutation SNP G G T rs72648887 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:78894484G>T ENST00000326828.5 - 5 884 c.500C>A c.(499-501)cCg>cAg p.P167Q CHRNA3_ENST00000348639.3_Missense_Mutation_p.P167Q NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 167 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTAATCAAACGGGAAGTAGGT 0.488000 6 185 0.00307968 0.00492749 0.003080 1 0 TRPM2 7226 broad.mit.edu 37 21 45798897 45798897 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45798897C>T ENST00000397928.1 + 8 1477 c.1032C>T c.(1030-1032)acC>acT p.T344T TRPM2_ENST00000397932.2_Silent_p.T344T|TRPM2_ENST00000300482.5_Silent_p.T344T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.T344T NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 344 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ACAACGCCACCACCAACGGCA 0.632000 25 39 0 0 0.005443 0 0 POLR2A 5430 broad.mit.edu 37 17 7405248 7405248 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7405248C>T ENST00000322644.6 + 15 2778 c.2379C>T c.(2377-2379)gtC>gtT p.V793V NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 793 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) AGCAGAACGTCGAGGGCAAGC 0.512000 29 25 0 0 0.004289 0 0 COL5A3 50509 broad.mit.edu 37 19 10092762 10092762 + Silent SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:10092762G>T ENST00000264828.3 - 32 2524 c.2439C>A c.(2437-2439)ccC>ccA p.P813P NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 813 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCTCTCCTATGGGTCCCAGGG 0.542000 13 38 9.31168e-06 1.50177e-05 0.001855 1 0 KNOP1 400506 broad.mit.edu 37 16 19718265 19718265 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:19718265C>T ENST00000219837.7 - 5 1422 c.1344G>A c.(1342-1344)agG>agA p.R448R KNOP1_ENST00000568230.1_Silent_p.R127R|AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 TGGAAGCGTTCCTGTCAATGT 0.507000 53 173 0 0 0.003610 0 0 OLFM2 93145 broad.mit.edu 37 19 9968153 9968153 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9968153C>T ENST00000264833.4 - 4 551 c.366G>A c.(364-366)ctG>ctA p.L122L OLFM2_ENST00000590841.1_Silent_p.L44L NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 122 extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 TCCTGTCCTTCAGCTCCTGTG 0.557000 9 24 0 0 0.006214 0 0 OR4D2 124538 broad.mit.edu 37 17 56247806 56247806 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:56247806C>T ENST00000545221.1 + 1 790 c.790C>T c.(790-792)Cca>Tca p.P264S NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 GCCCTTCACTCCATTCCCTAT 0.547000 45 86 0 0 0.003610 0 0 OR13C9 286362 broad.mit.edu 37 9 107380476 107380476 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:107380476C>T ENST00000259362.1 - 1 9 c.10G>A c.(10-12)Gaa>Aaa p.E4K NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 GTTTGGTTTTCCCATTCCATT 0.308000 14 15 0 0 0.004007 0 0 UTS2R 2837 broad.mit.edu 37 17 80332317 80332317 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:80332317G>A ENST00000313135.2 + 1 165 c.117G>A c.(115-117)ccG>ccA p.P39P NM_018949.1 NP_061822.1 Q9UKP6 UR2R_HUMAN urotensin 2 receptor 39 integral to membrane|plasma membrane breast(1)|endometrium(4)|kidney(1)|lung(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) GGGCCAGCCCGACCGAGCCCA 0.716000 8 8 0 0 0.000673 0 0 SLC38A4 55089 broad.mit.edu 37 12 47163181 47163181 + Missense_Mutation SNP G G A rs142179678 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:47163181G>A ENST00000447411.1 - 14 1536 c.1330C>T c.(1330-1332)Ccc>Tcc p.P444S SLC38A4_ENST00000266579.4_Missense_Mutation_p.P444S NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 444 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) GGTCGTTTGGGAAATAACAGT 0.348000 20 72 0 0 0.001882 0 0 RABEPK 10244 broad.mit.edu 37 9 127975692 127975692 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:127975692C>T ENST00000373544.1 + 5 421 c.255C>T c.(253-255)ccC>ccT p.P85P RABEPK_ENST00000373538.3_Silent_p.P85P|RABEPK_ENST00000394125.4_Silent_p.P85P|RABEPK_ENST00000394124.4_Silent_p.P85P|RABEPK_ENST00000259460.8_Intron Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 85 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GCCTCTTGCCCCGGTATGAAC 0.478000 25 71 0 0 0.003954 0 0 CATSPERD 257062 broad.mit.edu 37 19 5778497 5778497 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:5778497C>T ENST00000381624.3 + 22 2268 c.2207C>T c.(2206-2208)tCc>tTc p.S736F CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 736 integral to membrane ATCCTGGGGTCCGTTTGGCTG 0.572000 20 41 0 0 0.001523 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22202140 22202140 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:22202140G>A ENST00000344041.6 - 13 1156 c.844C>T c.(844-846)Caa>Taa p.Q282* RAPGEF5_ENST00000401957.2_Nonsense_Mutation_p.Q132* NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 132 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TCTTTGCCTTGATACTTCTTA 0.338000 14 70 0 0 0.001855 0 0 CSF1 1435 broad.mit.edu 37 1 110466433 110466433 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:110466433C>T ENST00000329608.6 + 6 1581 c.1190C>T c.(1189-1191)cCc>cTc p.P397L CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.P397L|CSF1_ENST00000344188.5_Intron NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 397 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CTCAGAGACCCCCCGGAGCCA 0.662000 14 25 0 0 0.004007 0 0 EVX2 344191 broad.mit.edu 37 2 176948122 176948122 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:176948122G>A ENST00000308618.4 - 1 519 c.383C>T c.(382-384)cCc>cTc p.P128L NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 128 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) GAGGCCCCCGGGGGAGCGAAG 0.687000 7 9 0 0 0.001984 0 0 TACR1 6869 broad.mit.edu 37 2 75425727 75425727 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:75425727G>A ENST00000305249.4 - 1 1099 c.334C>T c.(334-336)Ccc>Tcc p.P112S TACR1_ENST00000409848.3_Missense_Mutation_p.P112S NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 112 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) GCGGCGATGGGAAAGAAGTTG 0.498000 20 61 0 0 0.001882 0 0 BATF3 55509 broad.mit.edu 37 1 212870361 212870361 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:212870361C>T ENST00000243440.1 - 2 359 c.137G>A c.(136-138)cGa>cAa p.R46Q BATF3_ENST00000478275.1_5'UTR NM_018664.2 NP_061134.1 Q9NR55 BATF3_HUMAN basic leucine zipper transcription factor, ATF-like 3 46 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781) AGCAGCAACTCGGTTTTTTTC 0.557000 41 19 0 0 0.002522 0 0 GALNT6 11226 broad.mit.edu 37 12 51753045 51753045 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:51753045G>A ENST00000543196.2 - 7 1444 c.1239C>T c.(1237-1239)agC>agT p.S413S GALNT6_ENST00000356317.3_Silent_p.S413S Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 413 protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 AGGTGTGGGGGCTCTTGGTCC 0.557000 44 31 0 0 0.003610 0 0 ACER1 125981 broad.mit.edu 37 19 6312490 6312490 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:6312490G>A ENST00000301452.4 - 2 191 c.114C>T c.(112-114)ttC>ttT p.F38F NM_133492.2 NP_597999.1 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 38 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 GCCCGAAGATGAAGAAGGGGA 0.557000 23 79 0 0 0.002780 0 0 MYH15 22989 broad.mit.edu 37 3 108107886 108107886 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:108107886G>A ENST00000273353.3 - 39 5582 c.5526C>T c.(5524-5526)atC>atT p.I1842I NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1842 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CACTGCGACGGATTTCACCCT 0.537000 29 77 0 0 0.002096 0 0 HYAL4 23553 broad.mit.edu 37 7 123509273 123509273 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:123509273C>T ENST00000223026.4 + 3 1584 c.946C>T c.(946-948)Ctt>Ttt p.L316F HYAL4_ENST00000476325.1_Missense_Mutation_p.L316F NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 316 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TTTATTTTTCCTTTCTAAGGT 0.383000 11 23 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179400315 179400315 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179400315C>T ENST00000589042.1 - 358 101251 c.101027G>A c.(101026-101028)gGa>gAa p.G33676E TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G24611E|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G24803E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G32035E|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G24736E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G31108E|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32035 Ig-like 148. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGATCAATTCCAAATCTGTT 0.423000 17 37 0 0 0.007413 0 0 CHRDL1 91851 broad.mit.edu 37 X 109964648 109964648 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:109964648G>A ENST00000218054.4 - 5 605 c.409C>T c.(409-411)Cgg>Tgg p.R137W CHRDL1_ENST00000372045.1_Missense_Mutation_p.R131W|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R137W|CHRDL1_ENST00000444321.2_Missense_Mutation_p.R137W|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R138W NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 131 VWFC 2. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 TTGGGTTGCCGATTCTGAAAG 0.483000 75 91 0 0 0.003610 0 0 TMC5 79838 broad.mit.edu 37 16 19455470 19455470 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:19455470C>T ENST00000396229.2 + 4 1605 c.856C>T c.(856-858)Ctt>Ttt p.L286F TMC5_ENST00000381414.4_Missense_Mutation_p.L286F|TMC5_ENST00000541464.1_Missense_Mutation_p.L286F|TMC5_ENST00000542583.2_Missense_Mutation_p.L286F NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 286 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CGTGGGCAGTCTTTGGGGAGA 0.498000 46 47 0 0 0.003610 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140616170 140616170 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140616170C>T ENST00000526308.1 + 0 2233 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 CTCCCAGGCCCAGGCCGACTC 0.692000 18 102 0 0 0.007413 0 0 MKI67 4288 broad.mit.edu 37 10 129902173 129902173 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:129902173T>C ENST00000368654.3 - 13 8306 c.7931A>G c.(7930-7932)aAa>aGa p.K2644R MKI67_ENST00000368653.3_Missense_Mutation_p.K2284R NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2644 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTTCAATACTTTGATGCCCTC 0.502000 29 49 0 0 0.007291 0 0 TRHDE 29953 broad.mit.edu 37 12 73012702 73012702 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:73012702G>A ENST00000261180.4 + 13 2314 c.2218G>A c.(2218-2220)Gag>Aag p.E740K TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 740 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TATTCCTCTGGAGATTATCAG 0.388000 89 60 0 0 0.003610 0 0 GKAP1 80318 broad.mit.edu 37 9 86354623 86354623 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:86354623G>A ENST00000376371.2 - 13 1490 c.1090C>T c.(1090-1092)Cag>Tag p.Q364* GKAP1_ENST00000376365.3_Nonsense_Mutation_p.Q313*|GKAP1_ENST00000376362.1_5'UTR NM_025211.3 NP_079487.2 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 364 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 CACCTACACTGGTCGGATTCA 0.333000 12 33 0 0 0.000978 0 0 RORA 6095 broad.mit.edu 37 15 60907165 60907165 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:60907165C>T ENST00000309157.4 - 2 268 c.199G>A c.(199-201)Gat>Aat p.D67N RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_Intron|RORA_ENST00000335670.6_Intron|RORA_ENST00000261523.5_Intron|RP11-219B17.1_ENST00000558235.1_RNA NM_002943.3 NP_002934.1 P35398 RORA_HUMAN RAR-related orphan receptor A 70 Modulating. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 GTGGCTCCATCCCAGTTTATG 0.468000 14 50 0 0 0.003163 0 0 SCN8A 6334 broad.mit.edu 37 12 52200906 52200906 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:52200906C>T ENST00000354534.5 + 27 5814 c.5636C>T c.(5635-5637)tCc>tTc p.S1879F SCN8A_ENST00000545061.1_Missense_Mutation_p.S1838F NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1879 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCCAATCCTTCCAAAGTGTCT 0.572000 42 103 0 0 0.006999 0 0 STMN2 11075 broad.mit.edu 37 8 80567214 80567214 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:80567214G>A ENST00000220876.7 + 4 779 c.397G>A c.(397-399)Gaa>Aaa p.E133K STMN2_ENST00000518111.1_Missense_Mutation_p.E133K|STMN2_ENST00000518491.1_Missense_Mutation_p.E122K NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 133 intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) GATGGCGGAGGAAAAGCTGAT 0.468000 11 11 0 0 0.001368 0 0 GRM3 2913 broad.mit.edu 37 7 86394864 86394864 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:86394864C>T ENST00000361669.2 + 2 1502 c.403C>T c.(403-405)Caa>Taa p.Q135* GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Nonsense_Mutation_p.Q133*|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Nonsense_Mutation_p.Q135* NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 135 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CTATGCCATTCAAGAAAACAT 0.433000 26 74 0 0 0.005443 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072135 34072135 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:34072135C>T ENST00000254466.6 - 6 2408 c.2381G>A c.(2380-2382)cGa>cAa p.R794Q GAS2L2_ENST00000587565.1_Missense_Mutation_p.R778Q NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 794 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTGGGGATTCGTGAAGGCTG 0.632000 43 76 0 0 0.003610 0 0 COL20A1 57642 broad.mit.edu 37 20 61938856 61938856 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:61938856C>T ENST00000422202.1 + 5 600 c.532C>T c.(532-534)Cgc>Tgc p.R178C COL20A1_ENST00000435874.1_Missense_Mutation_p.R178C|COL20A1_ENST00000326996.6_Missense_Mutation_p.R171C|COL20A1_ENST00000358894.6_Missense_Mutation_p.R171C Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 171 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CCCCCAGTTCCGCTGCCTGCC 0.682000 18 17 0 0 0.007413 0 0 DNAH5 1767 broad.mit.edu 37 5 13793771 13793771 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:13793771C>T ENST00000265104.4 - 49 8181 c.8077G>A c.(8077-8079)Gag>Aag p.E2693K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2693 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGGTGAACTCCCCAGGCTTC 0.443000 Kartagener syndrome 88 43 0 0 0.003610 0 0 NAGLU 4669 broad.mit.edu 37 17 40693186 40693186 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:40693186C>T ENST00000225927.2 + 5 1084 c.983C>T c.(982-984)gCc>gTc p.A328V RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 328 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) TCCTACCTTGCCGCAGCCACC 0.572000 34 52 0 0 0.003755 0 0 DNAH5 1767 broad.mit.edu 37 5 13823447 13823447 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:13823447C>T ENST00000265104.4 - 40 6716 c.6612G>A c.(6610-6612)ttG>ttA p.L2204L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2204 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GATCTTCAATCAAACTCAAAA 0.368000 Kartagener syndrome 80 31 0 0 0.003610 0 0 TEX10 54881 broad.mit.edu 37 9 103088589 103088589 + Silent SNP G G A rs150703426 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:103088589G>A ENST00000374902.4 - 9 2150 c.1974C>T c.(1972-1974)caC>caT p.H658H TEX10_ENST00000535814.1_Silent_p.H661H NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 658 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) GCTACCTCATGTGCAGTATCC 0.428000 11 17 0 0 0.001368 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17063187 17063187 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:17063187C>T ENST00000262096.8 + 7 1195 c.500C>T c.(499-501)tCa>tTa p.S167L NM_016353.4 NP_057437.1 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 167 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) GTTGGATTTTCAAATTATAAG 0.333000 58 84 0 0 0.003610 0 0 ARAP3 64411 broad.mit.edu 37 5 141051852 141051852 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:141051852C>T ENST00000239440.4 - 10 1467 c.1402G>A c.(1402-1404)Ggg>Agg p.G468R ARAP3_ENST00000513878.1_Missense_Mutation_p.G130R|ARAP3_ENST00000508305.1_Missense_Mutation_p.G390R NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 468 PH 2. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CGAGCACCCCCAGACTCGGCT 0.627000 12 63 0 0 0.001855 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668309 176668309 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:176668309G>A ENST00000367662.3 + 8 3984 c.2820G>A c.(2818-2820)atG>atA p.M940I NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 940 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTACCACATGAACATGACGG 0.592000 18 73 0 0 0.001216 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382018 41382018 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:41382018G>A ENST00000377801.3 - 2 796 c.722C>T c.(721-723)tCg>tTg p.S241L PLCXD3_ENST00000328457.3_Missense_Mutation_p.S241L Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 241 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity p.S241L(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TATAAAAAACGATCCCTTCTT 0.507000 54 37 0 0 0.003610 0 0 LRCH4 4034 broad.mit.edu 37 7 100179430 100179430 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100179430G>A ENST00000310300.6 - 4 620 c.568C>T c.(568-570)Cgg>Tgg p.R190W LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 190 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGTTCCTCCGGACATTGAGG 0.582000 32 69 0 0 0.002836 0 0 TBL3 10607 broad.mit.edu 37 16 2025811 2025811 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:2025811C>T ENST00000568546.1 + 11 1118 c.990C>T c.(988-990)ttC>ttT p.F330F NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 330 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 CCCCGCAGTTCGCTGGCTACA 0.612000 34 76 0 0 0.006999 0 0 SPG11 80208 broad.mit.edu 37 15 44876092 44876092 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:44876092G>A ENST00000261866.7 - 30 5802 c.5786C>T c.(5785-5787)cCa>cTa p.P1929L SPG11_ENST00000558319.1_Missense_Mutation_p.P1929L|SPG11_ENST00000535302.2_Missense_Mutation_p.P1929L|SPG11_ENST00000427534.2_Missense_Mutation_p.P1929L NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1929 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ATGGATCTCTGGGTGCAGATC 0.493000 20 38 0 0 0.001523 0 0 UNC13B 10497 broad.mit.edu 37 9 35398937 35398937 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:35398937C>T ENST00000378495.3 + 32 3955 c.3733C>T c.(3733-3735)Cgg>Tgg p.R1245W UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Missense_Mutation_p.R1257W|UNC13B_ENST00000378496.4_Missense_Mutation_p.R1245W NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1245 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GGGCCAGGTTCGGGGCACAGG 0.577000 7 24 0 0 0.001984 0 0 FAM27L 284123 broad.mit.edu 37 17 21825560 21825560 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:21825560C>T ENST00000426869.3 + 0 264 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) tcaggcctgcccggagggtgt 0.637000 11 41 0 0 0.001855 0 0 OR4K1 79544 broad.mit.edu 37 14 20404381 20404381 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:20404381G>A ENST00000285600.4 + 1 615 c.556G>A c.(556-558)Gag>Aag p.E186K NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) CTTGGTGATAGAGCTGGCTTG 0.443000 19 325 0 0 0.001882 0 0 PCDH20 64881 broad.mit.edu 37 13 61986204 61986204 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:61986204G>A ENST00000409186.1 - 5 4133 c.2028C>T c.(2026-2028)ctC>ctT p.L676L PCDH20_ENST00000409204.4_Silent_p.L676L Q8N6Y1 PCD20_HUMAN protocadherin 20 649 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TCACCACAGAGAGGGCGACCC 0.448000 26 20 0 0 0.003330 0 0 KRT71 112802 broad.mit.edu 37 12 52939367 52939367 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:52939367G>A ENST00000267119.5 - 8 1411 c.1342C>T c.(1342-1344)Ccc>Tcc p.P448S NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 448 Tail. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) ACAGGGGAGGGAAATTCTCCT 0.418000 54 25 0 0 0.003610 0 0 RAB11B 9230 broad.mit.edu 37 19 8464857 8464857 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:8464857C>T ENST00000328024.6 + 2 369 c.151C>T c.(151-153)Cgc>Tgc p.R51C RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Missense_Mutation_p.R51C NM_004218.3 NP_004209.2 Q15907 RB11B_HUMAN RAB11B, member RAS oncogene family 51 cell cycle|protein transport|small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity large_intestine(2)|lung(1)|ovary(1) 4 GTTCGCCACCCGCAGCATCCA 0.662000 12 29 0 0 0.001855 0 0 GLYATL2 219970 broad.mit.edu 37 11 58601919 58601919 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:58601919G>A ENST00000287275.1 - 6 1258 c.868C>T c.(868-870)Ccc>Tcc p.P290S GLYATL2_ENST00000532258.1_Missense_Mutation_p.P290S NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 290 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TATTTCTTGGGGGTGCATTTC 0.363000 10 21 0 0 0.000978 0 0 ZNF479 90827 broad.mit.edu 37 7 57193792 57193792 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:57193792G>A ENST00000331162.4 - 4 465 c.195C>T c.(193-195)atC>atT p.I65I NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 65 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CCAGACAGGTGATCAAGTCTG 0.363000 115 61 0 0 0.003610 0 0 CMTR2 55783 broad.mit.edu 37 16 71319424 71319424 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:71319424G>A ENST00000338099.5 - 3 736 c.400C>T c.(400-402)Cag>Tag p.Q134* FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.Q134* Q8IYT2 FTSJ1_HUMAN 134 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTTCCATTCTGAAAAGCTTCC 0.393000 17 35 0 0 0.004007 0 0 MBNL1 4154 broad.mit.edu 37 3 152173353 152173353 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:152173353C>A ENST00000324210.5 + 7 1903 c.984C>A c.(982-984)ccC>ccA p.P328P MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000357472.3_Silent_p.P328P|MBNL1_ENST00000545754.1_Silent_p.P260P|MBNL1_ENST00000493459.1_Silent_p.P289P|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000492948.1_Silent_p.P328P|MBNL1_ENST00000485509.1_Intron NM_021038.3 NP_066368.2 Q9NR56 MBNL1_HUMAN muscleblind-like splicing regulator 1 338 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GCATGACACCCGCTACAAGTG 0.408000 6 119 0.00307968 0.00492749 0.003080 1 0 RBAK 57786 broad.mit.edu 37 7 5104889 5104889 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:5104889G>A ENST00000396912.1 + 5 2321 c.1802G>A c.(1801-1803)gGa>gAa p.G601E RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.G601E NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 601 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) TACGAATGTGGAAAATTCTTC 0.393000 35 23 0 0 0.004289 0 0 COL17A1 1308 broad.mit.edu 37 10 105815715 105815715 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:105815715C>T ENST00000353479.5 - 18 1802 c.1512G>A c.(1510-1512)agG>agA p.R504R COL17A1_ENST00000369733.3_Silent_p.R504R|COL17A1_ENST00000480127.1_5'UTR NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 504 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TCCTCCTGATCCTCTCCAGCT 0.597000 25 81 0 0 0.006320 0 0 FAM98B 283742 broad.mit.edu 37 15 38757496 38757496 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:38757496C>T ENST00000397609.2 + 3 279 c.244C>T c.(244-246)Ctt>Ttt p.L82F FAM98B_ENST00000491535.1_Missense_Mutation_p.L82F NM_173611.2 NP_775882.2 Q52LJ0 FA98B_HUMAN family with sequence similarity 98, member B 82 tRNA-splicing ligase complex protein binding endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209) GAGCTTCCAGCTTGAGATAAG 0.308000 12 23 0 0 0.001855 0 0 CYP2C9 1559 broad.mit.edu 37 10 96740983 96740983 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:96740983G>A ENST00000260682.6 + 7 1017 c.1005G>A c.(1003-1005)cgG>cgA p.R335R NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 335 R -> W (in allele CYP2C9*11; dbSNP:rs28371685). exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GCAGAAACCGGAGCCCCTGCA 0.493000 32 81 0 0 0.003755 0 0 OR6C76 390326 broad.mit.edu 37 12 55820236 55820236 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:55820236G>A ENST00000328314.3 + 1 199 c.199G>A c.(199-201)Gaa>Aaa p.E67K NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TTTCTCCTTGGAAATTTCATT 0.398000 23 340 0 0 0.001882 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517128 158517128 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158517128G>A ENST00000302617.3 - 1 767 c.768C>T c.(766-768)ttC>ttT p.F256F NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) TCATGGAATAGAAGAGAATTA 0.502000 67 29 0 0 0.003610 0 0 DMBT1 1755 broad.mit.edu 37 10 124380826 124380826 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:124380826G>A ENST00000338354.3 + 41 5257 c.5151G>A c.(5149-5151)tgG>tgA p.W1717* DMBT1_ENST00000368909.3_Nonsense_Mutation_p.W1717*|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.W1089*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.W1707*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.W1707*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.W1089* Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1717 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCTACCTGTGGAGCTGCCCCC 0.622000 55 55 0 0 0.003610 0 0 FPR1 2357 broad.mit.edu 37 19 52249761 52249761 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:52249761G>A ENST00000595042.1 - 3 628 c.487C>T c.(487-489)Cgt>Tgt p.R163C FPR1_ENST00000304748.4_Missense_Mutation_p.R163C NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 163 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GTAGTCACACGAATGATAACT 0.537000 20 49 0 0 0.002780 0 0 DPY19L4 286148 broad.mit.edu 37 8 95777443 95777443 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:95777443C>T ENST00000414645.2 + 9 1002 c.903C>T c.(901-903)tcC>tcT p.S301S NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 301 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) ACATATTTTCCCTCTTTCTGG 0.294000 209 181 0 0 0.003610 0 0 OR2T34 127068 broad.mit.edu 37 1 248737510 248737510 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248737510G>A ENST00000328782.2 - 1 570 c.549C>T c.(547-549)ttC>ttT p.F183F NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAGTCTCACAGAAAAAACTCA 0.512000 27 89 0 0 0.003271 0 0 RNF39 80352 broad.mit.edu 37 6 30043030 30043030 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:30043030G>A ENST00000244360.6 - 1 634 c.537C>T c.(535-537)ccC>ccT p.P179P RNF39_ENST00000376751.3_Silent_p.P179P NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 179 cytoplasm zinc ion binding AGCCCATGGTGGGGATGCGCC 0.716000 10 20 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9048748 9048748 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9048748G>A ENST00000397910.4 - 5 33086 c.32883C>T c.(32881-32883)acC>acT p.T10961T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10963 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGAAGGTGTGGTCTCTGGTT 0.498000 23 53 0 0 0.003954 0 0 ETFA 2108 broad.mit.edu 37 15 76578774 76578774 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:76578774G>A ENST00000557943.1 - 6 580 c.500C>T c.(499-501)tCt>tTt p.S167F ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000559602.1_Missense_Mutation_p.S63F|ETFA_ENST00000560816.1_5'UTR|ETFA_ENST00000433983.2_Missense_Mutation_p.S118F NM_000126.3 NP_000117.1 P13804 ETFA_HUMAN electron-transfer-flavoprotein, alpha polypeptide 167 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 TCCACGGACAGAAAACACTTT 0.383000 13 39 0 0 0.003163 0 0 NUP214 8021 broad.mit.edu 37 9 134073810 134073810 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:134073810C>T ENST00000359428.5 + 29 5073 c.4929C>T c.(4927-4929)tcC>tcT p.S1643S NUP214_ENST00000411637.2_Silent_p.S1633S|NUP214_ENST00000451030.1_Silent_p.S1644S|NUP214_ENST00000483497.2_Silent_p.S469S P35658 NU214_HUMAN nucleoporin 214kDa 1643 11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CTGGCTCATCCGTCTTTGCTC 0.577000 T """DEK, SET, ABL1""" """AML, T-ALL""" 25 84 0 0 0.005443 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104440255 104440255 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:104440255C>T ENST00000372582.1 + 3 937 c.181C>T c.(181-183)Cgt>Tgt p.R61C IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.R61C NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 61 Ig-like C2-type 1. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity p.R61C(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CAGTTATATTCGTACCAACTA 0.473000 30 3 0 0 0.001786 0 0 PELO 53918 broad.mit.edu 37 5 52096729 52096729 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:52096729C>T ENST00000274311.2 + 2 1486 c.501C>T c.(499-501)atC>atT p.I167I ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron NM_015946.4 NP_057030.3 Q9BRX2 PELO_HUMAN pelota homolog (Drosophila) 167 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 11 Lung NSC(810;4.94e-05)|Breast(144;0.0848) AGGTGAACATCCCTAGGAAAA 0.567000 61 41 0 0 0.003610 0 0 LIFR 3977 broad.mit.edu 37 5 38523666 38523666 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:38523666G>A ENST00000263409.4 - 5 578 c.416C>T c.(415-417)cCa>cTa p.P139L LIFR_ENST00000453190.2_Missense_Mutation_p.P139L|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 139 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CAAGATCTCTGGAGTATCTGG 0.348000 T PLAG1 salivary adenoma 10 79 0 0 0.000978 0 0 ADK 132 broad.mit.edu 37 10 75960564 75960564 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:75960564C>T ENST00000372734.3 + 2 244 c.57C>T c.(55-57)atC>atT p.I19I ADK_ENST00000541550.1_Silent_p.I19I|ADK_ENST00000539909.1_Silent_p.I36I|ADK_ENST00000286621.2_Silent_p.I36I NM_001123.3|NM_001202449.1 NP_001114.2|NP_001189378.1 P55263 ADK_HUMAN adenosine kinase 36 purine base metabolic process|purine ribonucleoside salvage cytosol adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 8 Prostate(51;0.0112)|Ovarian(15;0.148) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811) TGCTTGACATCTCTGCTGTAG 0.303000 15 15 0 0 0.007413 0 0 ABCC6P1 653190 broad.mit.edu 37 16 18597196 18597196 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:18597196C>T ENST00000546162.2 + 0 936 NR_003569.1 AGAGAAAACTCCTCAGAAGAA 0.557000 33 21 0 0 0.001951 0 0 PARD3B 117583 broad.mit.edu 37 2 206166390 206166390 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:206166390G>A ENST00000406610.2 + 18 2802 c.2595G>A c.(2593-2595)agG>agA p.R865R PARD3B_ENST00000351153.1_Silent_p.R796R|PARD3B_ENST00000462231.1_Silent_p.R865R|PARD3B_ENST00000358768.2_Silent_p.R803R|PARD3B_ENST00000349953.3_Silent_p.R865R NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 865 Lys-rich. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) atccagaaaggaaaataaaga 0.418000 13 10 0 0 0.001368 0 0 C7 730 broad.mit.edu 37 5 40962209 40962209 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:40962209C>T ENST00000313164.9 + 13 2043 c.1684C>T c.(1684-1686)Cct>Tct p.P562S NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 562 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) ACATTGCTTTCCTTTGTCTTT 0.333000 4 4 0 0 0.000248 0 0 OR5B3 441608 broad.mit.edu 37 11 58170843 58170843 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:58170843C>T ENST00000309403.2 - 1 39 c.40G>A c.(40-42)Gga>Aga p.G14R NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTGGTTAGTCCTAGAAGAATG 0.388000 33 45 0 0 0.005524 0 0 CPM 1368 broad.mit.edu 37 12 69264142 69264142 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:69264142G>A ENST00000551568.1 - 5 529 c.469C>T c.(469-471)Ccc>Tcc p.P157S CPM_ENST00000338356.3_Missense_Mutation_p.P157S|CPM_ENST00000546373.1_Missense_Mutation_p.P157S NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 157 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) AAAGCATCGGGGAAATTTCGA 0.398000 25 190 0 0 0.006320 0 0 TCTA 6988 broad.mit.edu 37 3 49449976 49449976 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:49449976C>T ENST00000273590.3 + 1 338 c.117C>T c.(115-117)ttC>ttT p.F39F RHOA_ENST00000265538.3_5'UTR|TCTA_ENST00000493381.1_3'UTR NM_022171.2 NP_071503.1 P57738 TCTA_HUMAN T-cell leukemia translocation altered 39 integral to membrane large_intestine(4)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGACCCTCTTCAAGCTGCTGC 0.647000 57 68 0 0 0.003610 0 0 NOTUM 147111 broad.mit.edu 37 17 79916234 79916234 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:79916234C>T ENST00000409678.3 - 5 952 c.569G>A c.(568-570)gGg>gAg p.G190E NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 190 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGATGAAGCCCCGCTCCAAAC 0.642000 7 47 0 0 0.006214 0 0 OR11L1 391189 broad.mit.edu 37 1 248005013 248005013 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:248005013G>A ENST00000355784.2 - 1 241 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GATGCTGGAGGAACATGTACA 0.547000 8 23 0 0 0.003080 0 0 MRVI1 10335 broad.mit.edu 37 11 10655561 10655561 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:10655561C>T ENST00000547195.1 - 2 510 c.10G>A c.(10-12)Gat>Aat p.D4N MRVI1_ENST00000552103.1_Missense_Mutation_p.D4N|MRVI1_ENST00000436272.1_Missense_Mutation_p.D86N|MRVI1_ENST00000541483.1_Missense_Mutation_p.D95N|MRVI1_ENST00000558540.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.D4N|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.D86N|MRVI1_ENST00000423302.2_Missense_Mutation_p.D95N|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.D86N|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000424001.1_Intron NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 86 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GAAGTGGCATCCCCAGTCAGG 0.507000 11 4 0 0 0.000978 0 0 FAM126B 285172 broad.mit.edu 37 2 201862171 201862171 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:201862171G>A ENST00000418596.2 - 8 810 c.623C>T c.(622-624)tCc>tTc p.S208F AC005037.3_ENST00000413848.1_RNA NM_173822.3 NP_776183.1 Q8IXS8 F126B_HUMAN family with sequence similarity 126, member B 208 intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 TTCTCACCTGGAACCCATCCG 0.353000 22 32 0 0 0.003954 0 0 RBM14 10432 broad.mit.edu 37 11 66392846 66392846 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:66392846C>T ENST00000310137.4 + 2 1638 c.1499C>T c.(1498-1500)gCc>gTc p.A500V RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 500 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 TCCTATGGTGCCGCAGCAGCC 0.617000 8 62 0 0 0.004482 0 0 MYH4 4622 broad.mit.edu 37 17 10364338 10364338 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10364338C>T ENST00000255381.2 - 12 1152 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 348 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCCACCTTTTCATCAGCAGTG 0.488000 25 65 0 0 0.006320 0 0 ITGAX 3687 broad.mit.edu 37 16 31382989 31382989 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:31382989G>A ENST00000268296.4 + 17 2165 c.2044G>A c.(2044-2046)Gac>Aac p.D682N ITGAX_ENST00000562522.1_Missense_Mutation_p.D682N NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 682 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCTGGCCCTCGACCCTGGCCG 0.607000 15 45 0 0 0.001216 0 0 MFAP3 4238 broad.mit.edu 37 5 153433112 153433112 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:153433112C>T ENST00000436816.1 + 3 1147 c.928C>T c.(928-930)Cag>Tag p.Q310* MFAP3_ENST00000322602.5_Nonsense_Mutation_p.Q310*|MFAP3_ENST00000439768.2_Nonsense_Mutation_p.Q164* NM_001242336.1|NM_005927.4 NP_001229265.1|NP_005918.1 P55082 MFAP3_HUMAN microfibrillar-associated protein 3 310 integral to membrane|plasma membrane breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1) 7 Renal(175;0.00488) Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201) TGAACAAGGCCAGGAAATAGC 0.448000 15 62 0 0 0.004007 0 0 AGAP3 116988 broad.mit.edu 37 7 150841005 150841005 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:150841005T>C ENST00000397238.2 + 18 2711 c.2711T>C c.(2710-2712)cTg>cCg p.L904P AGAP3_ENST00000463381.1_Missense_Mutation_p.L573P NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 868 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 TCTGCTGAGCTGCACCGTAGT 0.622000 15 92 0 0 0.003163 0 0 OTUD7A 161725 broad.mit.edu 37 15 31819474 31819474 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:31819474C>T ENST00000382902.1 - 5 782 c.690G>A c.(688-690)cgG>cgA p.R230R OTUD7A_ENST00000307050.4_Silent_p.R230R Q8TE49 OTU7A_HUMAN OTU domain containing 7A 230 Catalytic (By similarity).|OTU.|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) AGAGAGCTTTCCGTAACACCA 0.567000 80 80 0 0 0.003610 0 0 NAB2 4665 broad.mit.edu 37 12 57485152 57485152 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57485152C>T ENST00000300131.3 + 2 706 c.328C>T c.(328-330)Cca>Tca p.P110S NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.P110S|NAB2_ENST00000342556.6_Missense_Mutation_p.P110S NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 110 NCD1. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GGCCACCAATCCAGGGCTCTT 0.592000 31 354 0 0 0.002445 0 0 AGAP11 119385 broad.mit.edu 37 10 88769434 88769434 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:88769434C>T ENST00000444431.1 + 0 4034 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CACATGGCTCCCGTGAGGAGG 0.672000 66 52 0 0 0.003610 0 0 NR2C1 7181 broad.mit.edu 37 12 95451609 95451609 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:95451609G>A ENST00000333003.5 - 6 920 c.590C>T c.(589-591)tCt>tTt p.S197F NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.S197F|NR2C1_ENST00000330677.7_Missense_Mutation_p.S197F NM_003297.3 NP_003288.2 P13056 NR2C1_HUMAN nuclear receptor subfamily 2, group C, member 1 197 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor PML body sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 ACAGTTGGAAGATTTTTCTCG 0.348000 25 43 0 0 0.004656 0 0 CCNYL2 414194 broad.mit.edu 37 10 42947111 42947111 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:42947111G>A ENST00000483242.3 - 0 643 NR_103829.1 cyclin Y-like 2 breast(2)|endometrium(1)|lung(3)|ovary(1) 7 TGGTCAGAAGGGTTGGGCTCC 0.358000 3 11 0 0 0.004672 0 0 MGAM 8972 broad.mit.edu 37 7 141800622 141800622 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:141800622T>C ENST00000475668.2 + 68 7949 c.7895T>C c.(7894-7896)tTc>tCc p.F2632S MGAM_ENST00000549489.2_Missense_Mutation_p.F1736S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1736 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTCATGGGCTTCAAAATTGCC 0.478000 8 34 0 0 0.004482 0 0 DENND4B 9909 broad.mit.edu 37 1 153906740 153906740 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:153906740G>A ENST00000361217.4 - 19 3230 c.2812C>T c.(2812-2814)Cag>Tag p.Q938* NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 938 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GTCTGGCGCTGAAGAGGGCGA 0.612000 7 4 0 0 0.004482 0 0 ZNF208 7757 broad.mit.edu 37 19 22157589 22157589 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:22157589G>A ENST00000397126.4 - 4 395 c.247C>T c.(247-249)Caa>Taa p.Q83* ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Nonsense_Mutation_p.Q83* NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CAAAGATCTTGAGCAAAATGA 0.294000 9 28 0 0 0.006214 0 0 SERPINB10 5273 broad.mit.edu 37 18 61582839 61582839 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:61582839C>T ENST00000238508.3 + 2 154 c.95C>T c.(94-96)tCc>tTc p.S32F NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) TTCTTTTCTTCCTGGAGCATC 0.458000 18 64 0 0 0.007413 0 0 EDNRA 1909 broad.mit.edu 37 4 148407109 148407109 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:148407109C>T ENST00000324300.5 + 2 791 c.276C>T c.(274-276)atC>atT p.I92I EDNRA_ENST00000339690.5_Silent_p.I92I|EDNRA_ENST00000358556.4_Silent_p.I92I|EDNRA_ENST00000506066.1_Silent_p.I92I|EDNRA_ENST00000511804.1_Intron NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 92 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CTATTTTCATCGTGGGAATGG 0.443000 42 48 0 0 0.003610 0 0 TSPAN8 7103 broad.mit.edu 37 12 71526564 71526564 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:71526564C>T ENST00000393330.2 - 10 1037 c.485G>A c.(484-486)gGa>gAa p.G162E TSPAN8_ENST00000247829.3_Missense_Mutation_p.G162E|TSPAN8_ENST00000552128.1_Missense_Mutation_p.G79E|TSPAN8_ENST00000546561.1_Missense_Mutation_p.G162E P19075 TSN8_HUMAN tetraspanin 8 162 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) AAAATTATTTCCCCAATCAGC 0.368000 125 793 0 0 0.003610 0 0 TAS1R2 80834 broad.mit.edu 37 1 19183978 19183978 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:19183978C>T ENST00000375371.3 - 2 351 c.330G>A c.(328-330)ccG>ccA p.P110P RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 110 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) AGTAGAGCACCGGCTGGACAT 0.542000 20 31 0 0 0.004656 0 0 LINC00477 144360 broad.mit.edu 37 12 24736652 24736652 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:24736652G>A ENST00000483544.1 - 0 450 NR_029451.2 TGCTCAGTGGGGAAGGAGGGT 0.567000 15 72 0 0 0.004990 0 0 CEACAM21 90273 broad.mit.edu 37 19 42085767 42085767 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:42085767G>A ENST00000407170.2 + 4 915 c.102G>A c.(100-102)gtG>gtA p.V34V CEACAM21_ENST00000187608.9_Silent_p.V162V|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Silent_p.V162V Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 162 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 AGGGCTCCGTGGTCCTGACCT 0.532000 13 31 0 0 0.002450 0 0 SPTA1 6708 broad.mit.edu 37 1 158590148 158590148 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158590148C>T ENST00000368148.3 - 44 6409 c.6229G>A c.(6229-6231)Gaa>Aaa p.E2077K SPTA1_ENST00000368147.3_Missense_Mutation_p.E2074K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2077 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGCCGAATTTCATTCAGGGAG 0.473000 7 44 0 0 0.004482 0 0 KCNB2 9312 broad.mit.edu 37 8 73848969 73848969 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:73848969G>A ENST00000523207.1 + 3 1967 c.1379G>A c.(1378-1380)cGa>cAa p.R460Q NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 460 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GCCTTCGCTCGAAGTATGGAA 0.512000 59 55 0 0 0.003610 0 0 TRMT10B 158234 broad.mit.edu 37 9 37777687 37777687 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:37777687C>T ENST00000297994.3 + 9 999 c.934C>T c.(934-936)Cgg>Tgg p.R312W TRMT10B_ENST00000377753.2_Missense_Mutation_p.R225W|TRMT10B_ENST00000537911.1_Missense_Mutation_p.R252W|TRMT10B_ENST00000377754.2_Missense_Mutation_p.R217W|RP11-613M10.9_ENST00000540557.1_Intron NM_144964.2 NP_659401.2 tRNA methyltransferase 10 homolog B (S. cerevisiae) CTATATTCTTCGGAACTCAGT 0.483000 10 17 0 0 0.006214 0 0 MBOAT7 79143 broad.mit.edu 37 19 54691087 54691087 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:54691087G>A ENST00000245615.1 - 4 769 c.289C>T c.(289-291)Ccc>Tcc p.P97S MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000391754.1_Missense_Mutation_p.P97S|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000431666.2_Intron NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 97 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AAGGGCGTGGGAGTGGGCAGG 0.657000 4 11 0 0 0.000248 0 0 CLTCL1 8218 broad.mit.edu 37 22 19230400 19230400 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:19230400G>A ENST00000263200.10 - 4 651 c.579C>T c.(577-579)ccC>ccT p.P193P CLTCL1_ENST00000427926.1_Silent_p.P193P|CLTCL1_ENST00000353891.5_Silent_p.P193P NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 193 Globular terminal domain. P -> H (in Ref. 1; AAC50494). anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GGCCTTCTATGGGTTGTGAAA 0.478000 T ? ALCL 19 42 0 0 0.006122 0 0 KMT2D 8085 broad.mit.edu 37 12 49436535 49436535 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:49436535G>A ENST00000301067.7 - 26 5770 c.5771C>T c.(5770-5772)cCc>cTc p.P1924L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TTGAAGAAAGGGCCTCTGCAG 0.547000 30 74 0 0 0.002445 0 0 SYN1 6853 broad.mit.edu 37 X 47466349 47466349 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:47466349G>A ENST00000295987.7 - 3 646 c.522C>T c.(520-522)gtC>gtT p.V174V SYN1_ENST00000340666.4_Silent_p.V174V NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 174 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 CTCACCGCACGACCTTCACCC 0.507000 14 2 0 0 0.004007 0 0 EFNA5 1946 broad.mit.edu 37 5 106717056 106717056 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:106717056G>A ENST00000333274.6 - 5 868 c.587C>T c.(586-588)gCc>gTc p.A196V EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Missense_Mutation_p.A169V NM_001962.2 NP_001953.1 P52803 EFNA5_HUMAN ephrin-A5 196 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding large_intestine(6) 6 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) GGATGGCTCGGCTGACTCATG 0.488000 34 19 0 0 0.003755 0 0 HIRA 7290 broad.mit.edu 37 22 19348765 19348765 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:19348765G>A ENST00000263208.5 - 17 2336 c.2080C>T c.(2080-2082)Ctc>Ttc p.L694F HIRA_ENST00000541063.1_Missense_Mutation_p.L650F|HIRA_ENST00000340170.4_Intron|HIRA_ENST00000546308.1_Missense_Mutation_p.L650F NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 694 Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CTTACCTGGAGGGTGAATGCT 0.547000 47 5 0 0 0.003610 0 0 MRPS27 23107 broad.mit.edu 37 5 71533937 71533937 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:71533937G>A ENST00000261413.5 - 5 339 c.300C>T c.(298-300)aaC>aaT p.N100N MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Silent_p.N114N|MRPS27_ENST00000457646.4_Silent_p.N44N|MRPS27_ENST00000515404.1_Silent_p.N44N NM_015084.2 NP_055899.2 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 100 mitochondrion|ribosome breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) GGTACCAGCAGTTGGGGCTGT 0.403000 41 17 0 0 0.007835 0 0 ITGAE 3682 broad.mit.edu 37 17 3661105 3661105 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:3661105C>T ENST00000263087.4 - 9 1013 c.915G>A c.(913-915)aaG>aaA p.K305K NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 305 VWFA. cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CCACCATGACCTTGGATGCCT 0.532000 41 88 0 0 0.003214 0 0 PSD3 23362 broad.mit.edu 37 8 18413763 18413763 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:18413763C>T ENST00000440756.2 - 15 2992 c.2890G>A c.(2890-2892)Gac>Aac p.D964N PSD3_ENST00000327040.8_Missense_Mutation_p.D962N|PSD3_ENST00000286485.8_Missense_Mutation_p.D428N|PSD3_ENST00000523619.1_Missense_Mutation_p.D897N|PSD3_ENST00000428502.2_Missense_Mutation_p.D291N Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 963 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TCATCGACGTCCTTGGCTTTG 0.473000 45 33 0 0 0.003610 0 0 CPA1 1357 broad.mit.edu 37 7 130023288 130023288 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:130023288C>T ENST00000011292.3 + 5 690 c.540C>T c.(538-540)tcC>tcT p.S180S CPA1_ENST00000484324.1_Silent_p.S92S NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 180 Substrate binding. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) GCATCCATTCCCGGGAGTGGG 0.617000 17 52 0 0 0.001882 0 0 SLC14A2 8170 broad.mit.edu 37 18 43224001 43224001 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:43224001C>T ENST00000255226.6 + 10 2043 c.1227C>T c.(1225-1227)ttC>ttT p.F409F SLC14A2_ENST00000586448.1_Silent_p.F409F NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 409 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCATCATCTTCCTGCTCCTGA 0.542000 33 94 0 0 0.003755 0 0 GDPGP1 390637 broad.mit.edu 37 15 90784215 90784215 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:90784215C>T ENST00000558017.1 + 4 495 c.75C>T c.(73-75)acC>acT p.T25T GDPGP1_ENST00000329600.6_Silent_p.T25T NM_001013657.2 NP_001013679.2 Q6ZNW5 VTC2_HUMAN GDP-D-glucose phosphorylase 1 25 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity GCAGGCAAACCATTCCTGACT 0.483000 34 159 0 0 0.006230 0 0 ANKRD26 22852 broad.mit.edu 37 10 27306649 27306649 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:27306649G>A ENST00000376087.4 - 30 4453 c.4288C>T c.(4288-4290)Ctt>Ttt p.L1430F ANKRD26_ENST00000436985.2_Missense_Mutation_p.L1446F|ANKRD26_ENST00000376070.3_Missense_Mutation_p.L987F NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1429 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TCCTCTTGAAGAATTTGGTTC 0.333000 12 23 0 0 0.001368 0 0 OR2A25 392138 broad.mit.edu 37 7 143771784 143771784 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:143771784C>T ENST00000408898.2 + 1 510 c.472C>T c.(472-474)Cat>Tat p.H158Y NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) GGCCCTTGTCCATCTAGTGTT 0.453000 35 209 0 0 0.003271 0 0 LRRN2 10446 broad.mit.edu 37 1 204587761 204587761 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:204587761C>T ENST00000367175.1 - 1 3572 c.1360G>A c.(1360-1362)Gag>Aag p.E454K LRRN2_ENST00000367177.3_Missense_Mutation_p.E454K|LRRN2_ENST00000367176.3_Missense_Mutation_p.E454K O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 454 Ig-like C2-type. cell adhesion integral to membrane receptor activity p.E454K(1) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) CAGTAGATCTCGGGTTCGGGT 0.647000 35 17 0 0 0.002222 0 0 TRIM31 11074 broad.mit.edu 37 6 30075851 30075851 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:30075851C>T ENST00000376734.3 - 6 987 c.862G>A c.(862-864)Ggg>Agg p.G288R TRIM31_ENST00000540829.1_Missense_Mutation_p.G288R|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 288 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 TTTAGGCTCCCTGTGATGGAG 0.433000 35 18 0 0 0.004289 0 0 TOX2 84969 broad.mit.edu 37 20 42697297 42697297 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:42697297C>T ENST00000358131.5 + 8 1646 c.1438C>T c.(1438-1440)Ccc>Tcc p.P480S TOX2_ENST00000341197.3_Missense_Mutation_p.P498S|TOX2_ENST00000372999.1_Missense_Mutation_p.P456S|TOX2_ENST00000435864.2_Missense_Mutation_p.P376S|TOX2_ENST00000423191.1_Missense_Mutation_p.P456S NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CAGCCTGCTCCCCAGGGACAA 0.632000 20 18 0 0 0.001882 0 0 OR4F5 79501 broad.mit.edu 37 1 69517 69517 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:69517G>A ENST00000335137.3 + 1 427 c.427G>A c.(427-429)Gga>Aga p.G143R NM_001005484.1 NP_001005484.1 Q8NH21 OR4F5_HUMAN olfactory receptor, family 4, subfamily F, member 5 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1)|ovary(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGTCACATGGGGAATTGGCTT 0.473000 40 125 0 0 0.003610 0 0 ABCC9 10060 broad.mit.edu 37 12 21970176 21970176 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:21970176C>T ENST00000261200.4 - 31 3836 c.3837G>A c.(3835-3837)gtG>gtA p.V1279V ABCC9_ENST00000261201.4_Silent_p.V1279V|ABCC9_ENST00000345162.2_Silent_p.V1243V NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1279 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCACCTTCTTCACTGCACCCA 0.358000 34 89 0 0 0.007835 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215639 20215639 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:20215639C>T ENST00000331723.1 + 1 53 c.53C>T c.(52-54)tCa>tTa p.S18L NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGGCCTATCATCTTCTTGG 0.363000 22 265 0 0 0.003330 0 0 ALPPL2 251 broad.mit.edu 37 2 233274533 233274533 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:233274533C>T ENST00000295453.3 + 11 1602 c.1550C>T c.(1549-1551)cCt>cTt p.P517L NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 517 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GCGTTGCTTCCTCTGCTGGCA 0.746000 7 0 0 0 0.003080 0 0 F13B 2165 broad.mit.edu 37 1 197009744 197009744 + Silent SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:197009744A>G ENST00000367412.1 - 11 1903 c.1860T>C c.(1858-1860)acT>acC p.T620T F13B_ENST00000490002.1_5'UTR NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 620 Sushi 10. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CAGCTGGATAAGTATCTCCTC 0.323000 50 24 0 0 0.003610 0 0 NAT14 57106 broad.mit.edu 37 19 55997951 55997951 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55997951C>T ENST00000205194.4 + 3 552 c.249C>T c.(247-249)gcC>gcT p.A83A NAT14_ENST00000592719.1_Intron|NAT14_ENST00000591590.1_3'UTR|NAT14_ENST00000587400.1_Intron NM_020378.3 NP_065111.1 Q8WUY8 NAT14_HUMAN N-acetyltransferase 14 (GCN5-related, putative) 83 N-acetyltransferase. positive regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent integral to membrane|nucleus DNA binding|N-acetyltransferase activity central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1) 4 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0527) GCCTGCGGGCCCGATGGGGCT 0.756000 6 10 0 0 0.001984 0 0 MYO1E 4643 broad.mit.edu 37 15 59497637 59497637 + Silent SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:59497637A>G ENST00000288235.4 - 15 1977 c.1578T>C c.(1576-1578)ctT>ctC p.L526L NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 526 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) GATCCATAAAAAGCACATCCC 0.378000 30 146 0 0 0.004289 0 0 SLC7A11 23657 broad.mit.edu 37 4 139153492 139153492 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:139153492A>C ENST00000280612.5 - 3 728 c.449T>G c.(448-450)aTt>aGt p.I150S NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 150 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) TGGTTCCAGAATGTAGCGTCC 0.368000 40 28 0 0 0.002852 0 0 OR52M1 119772 broad.mit.edu 37 11 4566771 4566771 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:4566771C>T ENST00000360213.1 + 1 351 c.351C>T c.(349-351)ttC>ttT p.F117F NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGCATCTTCCTTGCCATGG 0.522000 40 16 0 0 0.002852 0 0 TECPR1 25851 broad.mit.edu 37 7 97874210 97874210 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:97874210G>T ENST00000447648.2 - 4 694 c.395C>A c.(394-396)cCc>cAc p.P132H TECPR1_ENST00000379795.3_Missense_Mutation_p.P132H|TECPR1_ENST00000542604.1_Missense_Mutation_p.P53H Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 132 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TTTCTCAGTGGGTTCACCTCC 0.642000 17 35 1.2644e-06 2.04217e-06 0.001523 1 0 ALS2 57679 broad.mit.edu 37 2 202603418 202603418 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:202603418A>C ENST00000264276.6 - 12 2764 c.2392T>G c.(2392-2394)Ttc>Gtc p.F798V ALS2_ENST00000457679.2_Missense_Mutation_p.F110V NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 798 DH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 AGAAGCTGGAATCCTCCCATA 0.388000 8 14 0 0 0.000673 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764449 140764449 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140764449C>T ENST00000518325.1 + 1 1983 c.1983C>T c.(1981-1983)acC>acT p.T661T PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACACTCACCGTGGCTGTGG 0.642000 9 36 0 0 0.006214 0 0 ADAM19 8728 broad.mit.edu 37 5 156946919 156946919 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:156946919G>A ENST00000257527.4 - 6 606 c.528C>T c.(526-528)ttC>ttT p.F176F ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Silent_p.F178F|ADAM19_ENST00000517905.1_Silent_p.F176F NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 176 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGAGTGCTCGAACCCACAGT 0.557000 17 145 0 0 0.004990 0 0 AMER1 139285 broad.mit.edu 37 X 63411267 63411267 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:63411267G>A ENST00000330258.3 - 2 2172 c.1900C>T c.(1900-1902)Cgt>Tgt p.R634C AMER1_ENST00000374869.3_Missense_Mutation_p.R634C|AMER1_ENST00000403336.1_Missense_Mutation_p.R634C NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) TCTCTACAACGAACCTCTCGG 0.612000 23 3 0 0 0.002780 0 0 NCOR2 9612 broad.mit.edu 37 12 124857021 124857021 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:124857021G>A ENST00000356219.3 - 21 2509 c.2354C>T c.(2353-2355)cCa>cTa p.P785L NCOR2_ENST00000404121.2_Missense_Mutation_p.P338L|NCOR2_ENST00000405201.1_Missense_Mutation_p.P785L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P767L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P768L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P767L NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 785 Pro-rich. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CTCCGGTGGTGGGGTGGGTGG 0.736000 6 10 0 0 0.001168 0 0 DNAH17 8632 broad.mit.edu 37 17 76498986 76498986 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:76498986G>A ENST00000389840.5 - 32 5176 c.5052C>T c.(5050-5052)atC>atT p.I1684I DNAH17_ENST00000585328.1_Silent_p.I1685I|DNAH17-AS1_ENST00000598378.1_3'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGTAGTCCAGGATCCACTGCT 0.622000 15 44 0 0 0.004990 0 0 C1RL 51279 broad.mit.edu 37 12 7252584 7252584 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:7252584C>T ENST00000266542.4 - 4 621 c.529G>A c.(529-531)Ggc>Agc p.G177S C1RL_ENST00000544702.1_Missense_Mutation_p.G177S|C1RL_ENST00000545280.1_Missense_Mutation_p.G61S NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 177 complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GCCTCAGAGCCCCTGCTGGCC 0.597000 4 25 0 0 0.000248 0 0 TMEM132E 124842 broad.mit.edu 37 17 32956109 32956109 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:32956109G>A ENST00000321639.5 + 5 1282 c.954G>A c.(952-954)agG>agA p.R318R NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 318 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) TCAAGCGGAGGATCATGTGGC 0.612000 57 93 0 0 0.003610 0 0 TAOK2 9344 broad.mit.edu 37 16 29994971 29994971 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:29994971C>T ENST00000308893.4 + 13 2451 c.1408C>T c.(1408-1410)Cga>Tga p.R470* TAOK2_ENST00000416441.2_Nonsense_Mutation_p.R297*|TAOK2_ENST00000279394.3_Nonsense_Mutation_p.R470*|TAOK2_ENST00000543033.1_Nonsense_Mutation_p.R470* NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 470 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity p.R470R(2) breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 TGCCACCATCCGAACCGCCTC 0.587000 57 154 0 0 0.003610 0 0 AMPD1 270 broad.mit.edu 37 1 115222291 115222291 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:115222291G>A ENST00000369538.3 - 6 940 c.893C>T c.(892-894)tCc>tTc p.S298F AMPD1_ENST00000520113.2_Missense_Mutation_p.S302F|AMPD1_ENST00000353928.6_Missense_Mutation_p.S269F NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 269 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) CTGGAACTTGGAGGAGAGGAA 0.413000 24 75 0 0 0.005443 0 0 TPTE 7179 broad.mit.edu 37 21 10934997 10934997 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:10934997C>T ENST00000298232.7 - 14 1109 c.741_splice c.e14-1 p.E248_splice TPTE_ENST00000361285.4_Splice_Site_p.E266_splice|TPTE_ENST00000342420.5_Splice_Site_p.E228_splice|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 266 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CGCACAACTTCCTAAAAAAGA 0.333000 11 67 0 0 0.002450 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15871644 15871644 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:15871644G>A ENST00000595525.1 + 0 460 CYP4F24P_ENST00000587443.2_RNA GCAGAGAAGGGAATAAAAGCC 0.567000 5 54 0 0 0.000602 0 0 ADAM28 10863 broad.mit.edu 37 8 24199169 24199169 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:24199169G>A ENST00000265769.4 + 16 1839 c.1729G>A c.(1729-1731)Gga>Aga p.G577R RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G324R NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 577 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GCCCTGGAAAGGACGGATAGT 0.428000 41 24 0 0 0.001951 0 0 TRAF4 9618 broad.mit.edu 37 17 27071154 27071154 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:27071154C>T ENST00000262395.5 + 1 153 c.24C>T c.(22-24)ttC>ttT p.F8F TRAF4_ENST00000444415.3_Silent_p.F8F|TRAF4_ENST00000262396.6_Silent_p.F8F NM_004295.3 NP_004286.2 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 8 apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) ACTACAAGTTCCTGGAGAAGC 0.716000 10 16 0 0 0.000673 0 0 SCN10A 6336 broad.mit.edu 37 3 38770042 38770042 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:38770042C>T ENST00000449082.2 - 15 2630 c.2631G>A c.(2629-2631)ggG>ggA p.G877G NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 877 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCACCAGGTTCCCTAGCACCA 0.498000 25 14 0 0 0.006320 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515442 140515442 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140515442C>T ENST00000231134.5 + 1 643 c.426C>T c.(424-426)atC>atT p.I142I NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 142 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTAAAAATCCCAGAGAGCA 0.438000 38 64 0 0 0.007835 0 0 POSTN 10631 broad.mit.edu 37 13 38171377 38171377 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:38171377C>T ENST00000379747.4 - 2 279 c.162G>A c.(160-162)aaG>aaA p.K54K POSTN_ENST00000541179.1_Silent_p.K54K|POSTN_ENST00000379743.4_Silent_p.K54K|POSTN_ENST00000541481.1_Silent_p.K54K|POSTN_ENST00000379749.4_Silent_p.K54K|POSTN_ENST00000379742.4_Silent_p.K54K NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 54 EMI. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TGAAGTATTTCTTTTTGGTGC 0.353000 8 20 0 0 0.006214 0 0 CRNN 49860 broad.mit.edu 37 1 152382958 152382958 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:152382958C>T ENST00000271835.3 - 3 662 c.600G>A c.(598-600)agG>agA p.R200R RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 200 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTGTCTGATTCCTCTTGCCTT 0.542000 141 180 0 0 0.003610 0 0 COL4A5 1287 broad.mit.edu 37 X 107869489 107869489 + Missense_Mutation SNP A A C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:107869489A>C ENST00000328300.6 + 36 3400 c.3156A>C c.(3154-3156)caA>caC p.Q1052H COL4A5_ENST00000361603.2_Missense_Mutation_p.Q1052H NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1052 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTCCTGGACAACCTGGCTCCC 0.458000 Alport syndrome with Diffuse Leiomyomatosis 31 12 0 0 0.002836 0 0 KRT72 140807 broad.mit.edu 37 12 52981575 52981575 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:52981575C>T ENST00000293745.2 - 7 1235 c.1150G>A c.(1150-1152)Gat>Aat p.D384N KRT72_ENST00000398066.3_Missense_Mutation_p.D196N|KRT72_ENST00000537672.2_Missense_Mutation_p.D384N|KRT72_ENST00000354310.4_Missense_Mutation_p.D342N NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 384 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) GCCCGGGCATCTTTCAGGGCG 0.642000 17 64 0 0 0.004990 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20563781 20563781 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:20563781C>T ENST00000202677.6 - 20 2762 c.2620G>A c.(2620-2622)Gaa>Aaa p.E874K NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 874 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GTATTCAGTTCTGGGTCTTCC 0.488000 8 56 0 0 0.004482 0 0 EPHA7 2045 broad.mit.edu 37 6 94120701 94120701 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:94120701C>T ENST00000369303.4 - 3 534 c.350G>A c.(349-351)gGa>gAa p.G117E EPHA7_ENST00000369297.1_Missense_Mutation_p.G117E NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 117 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTTGCAAGTTCCCAGTACTCC 0.383000 39 14 0 0 0.007835 0 0 HYDIN 54768 broad.mit.edu 37 16 70889126 70889126 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:70889126G>A ENST00000393567.2 - 73 12498 c.12348C>T c.(12346-12348)ttC>ttT p.F4116F NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4116 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGGAAAAATCGAACCCCTGCT 0.542000 50 57 0 0 0.003610 0 0 PDHX 8050 broad.mit.edu 37 11 34991824 34991824 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:34991824C>T ENST00000448838.3 + 7 1152 c.910C>T c.(910-912)Ctg>Ttg p.L304L PDHX_ENST00000227868.4_Silent_p.L319L|PDHX_ENST00000430469.2_Intron NM_001135024.1|NM_003477.2 NP_001128496.1|NP_003468.2 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 319 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 16 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) TAGGCAAGATCTGGTCAAAGG 0.303000 16 6 0 0 0.001216 0 0 FRYL 285527 broad.mit.edu 37 4 48563556 48563556 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:48563556G>A ENST00000537810.1 - 33 4398 c.3794C>T c.(3793-3795)tCt>tTt p.S1265F FRYL_ENST00000507711.1_Missense_Mutation_p.S1265F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.S1265F|FRYL_ENST00000358350.4_Missense_Mutation_p.S1265F O94915 FRYL_HUMAN FRY-like 1265 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ATATGAAACAGAATAGAGATG 0.438000 21 19 0 0 0.001523 0 0 GUCY2D 3000 broad.mit.edu 37 17 7909860 7909860 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7909860C>T ENST00000254854.4 + 4 1356 c.1206C>T c.(1204-1206)ttC>ttT p.F402F NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 402 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) AGCCCCCATTCGTGCTGCTAG 0.667000 8 32 0 0 0.003080 0 0 SOCS5 9655 broad.mit.edu 37 2 46987053 46987053 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:46987053C>T ENST00000306503.5 + 2 1556 c.1384C>T c.(1384-1386)Ccc>Tcc p.P462S SOCS5_ENST00000394861.2_Missense_Mutation_p.P462S NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 462 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TTATAAAGATCCCAGTTCGTG 0.433000 49 30 0 0 0.003610 0 0 CHRM2 1129 broad.mit.edu 37 7 136700301 136700301 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:136700301C>T ENST00000445907.2 + 3 1217 c.689C>T c.(688-690)cCc>cTc p.P230L AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P230L|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P230L|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.P230L|CHRM2_ENST00000397608.3_Missense_Mutation_p.P230L|CHRM2_ENST00000320658.5_Missense_Mutation_p.P230L|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 230 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) AACCAAGACCCCGTTTCTCCA 0.488000 4 37 0 0 0.000602 0 0 C20orf197 284756 broad.mit.edu 37 20 58645808 58645808 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:58645808G>A ENST00000313426.1 + 4 532 c.226G>A c.(226-228)Gga>Aga p.G76R NM_173644.1 NP_775915.1 Q8N268 CT197_HUMAN chromosome 20 open reading frame 197 76 large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) GAAGATAGAGGGACTTCTGCA 0.468000 26 33 0 0 0.006320 0 0 CDCP1 64866 broad.mit.edu 37 3 45134801 45134801 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:45134801C>T ENST00000296129.1 - 6 1729 c.1595G>A c.(1594-1596)gGt>gAt p.G532D NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 532 CUB. extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CACCGTCAGACCCTGCCTGGA 0.502000 24 44 0 0 0.006320 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884867 228884867 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:228884867C>T ENST00000392056.3 - 7 749 c.703G>A c.(703-705)Gaa>Aaa p.E235K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E235K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 235 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTTATATTTTCATAATCTAGT 0.343000 25 36 0 0 0.006320 0 0 CATSPER4 378807 broad.mit.edu 37 1 26517266 26517266 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:26517266C>T ENST00000456354.2 + 1 215 c.148C>T c.(148-150)Cac>Tac p.H50Y NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 50 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) GAGTACCATTCACGAGTCCTA 0.627000 7 10 0 0 0.006214 0 0 PDILT 204474 broad.mit.edu 37 16 20384349 20384349 + Silent SNP G G A rs145263436 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:20384349G>A ENST00000302451.4 - 6 1025 c.777C>T c.(775-777)atC>atT p.I259I NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 259 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity p.I259I(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TGTTGTATTCGATCACAAAAT 0.443000 47 45 0 0 0.003610 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325873 79325873 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:79325873G>A ENST00000428286.1 - 8 1440 c.240C>T c.(238-240)tcC>tcT p.S80S PRUNE2_ENST00000376718.3_Silent_p.S439S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 439 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGCTCTCCTTGGATGAGCGGC 0.572000 9 13 0 0 0.006214 0 0 ASIC4 55515 broad.mit.edu 37 2 220396617 220396617 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:220396617G>A ENST00000358078.4 + 2 1115 c.1101G>A c.(1099-1101)agG>agA p.R367R ASIC4_ENST00000347842.3_Silent_p.R367R|ASIC4_ENST00000473709.1_3'UTR Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 367 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity CCATCTGGAGGGAGACAAGTA 0.667000 29 38 0 0 0.001512 0 0 SVEP1 79987 broad.mit.edu 37 9 113170290 113170290 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:113170290G>A ENST00000401783.2 - 38 7926 c.7590C>T c.(7588-7590)ctC>ctT p.L2530L SVEP1_ENST00000297826.5_Silent_p.L456L|SVEP1_ENST00000374469.1_Silent_p.L2507L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2530 Sushi 19. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGGGACCTTCGAGCCGAAAGC 0.493000 5 13 0 0 0.000602 0 0 GPR128 84873 broad.mit.edu 37 3 100348442 100348442 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:100348442G>A ENST00000273352.3 + 2 384 c.115_splice c.e2-1 p.G39_splice NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 39 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GTTTCTTTAGGAAAATCTACT 0.408000 9 28 0 0 0.004482 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993706 45993706 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45993706C>T ENST00000400374.3 + 1 101 c.71C>T c.(70-72)tCc>tTc p.S24F TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 24 keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 GACTCTTGCTCCGACTCCTGG 0.682000 23 92 0 0 0.005443 0 0 RGS4 5999 broad.mit.edu 37 1 163042204 163042204 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:163042204C>T ENST00000421743.2 + 3 515 c.355C>T c.(355-357)Cgg>Tgg p.R119W RGS4_ENST00000531057.1_Missense_Mutation_p.R22W|RGS4_ENST00000367909.6_Missense_Mutation_p.R22W|RGS4_ENST00000367908.4_Missense_Mutation_p.R22W|RGS4_ENST00000527809.1_Missense_Mutation_p.R4W|RGS4_ENST00000367906.3_Missense_Mutation_p.R4W|RGS4_ENST00000491263.1_3'UTR NM_001102445.2|NM_001113380.1 NP_001095915.1|NP_001106851.1 P49798 RGS4_HUMAN regulator of G-protein signaling 4 22 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2) 21 TATGAAACATCGGCTAGGTTT 0.378000 8 30 0 0 0.004482 0 0 DDX11 1663 broad.mit.edu 37 12 31254895 31254895 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:31254895C>T ENST00000407793.2 + 21 2432 c.2181C>T c.(2179-2181)ggC>ggT p.G727G DDX11_ENST00000545668.1_Silent_p.G727G|DDX11_ENST00000228264.6_Silent_p.G701G|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.G727G NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 727 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GCCTGCTGGGCCGTCTGGCTG 0.637000 Multiple Myeloma(12;0.14) 8 9 0 0 0.001368 0 0 ZNF474 133923 broad.mit.edu 37 5 121488633 121488633 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:121488633G>A ENST00000296600.4 + 2 1331 c.948G>A c.(946-948)caG>caA p.Q316Q ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 316 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) CAAAATATCAGAATTTGAATT 0.438000 35 9 0 0 0.003755 0 0 AASS 10157 broad.mit.edu 37 7 121773576 121773576 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:121773576C>T ENST00000393376.1 - 1 300 c.205G>A c.(205-207)Gat>Aat p.D69N AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.D69N Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 69 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) CTCACCTTATCATGAATGGCC 0.423000 13 72 0 0 0.001855 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361735 105361735 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:105361735C>T ENST00000297581.2 + 2 1004 c.955C>T c.(955-957)Cgg>Tgg p.R319W DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 319 osteoclast differentiation cell surface|integral to membrane|plasma membrane TCTGCTGTATCGGCTCATTTT 0.483000 53 160 0 0 0.003610 0 0 ZNF618 114991 broad.mit.edu 37 9 116812253 116812253 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:116812253C>T ENST00000288466.7 + 14 2491 c.2392C>T c.(2392-2394)Cag>Tag p.Q798* ZNF618_ENST00000374126.5_Nonsense_Mutation_p.Q891*|ZNF618_ENST00000470105.1_3'UTR NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 891 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 TGATCTCTTCCAGTACTGGTC 0.577000 26 33 0 0 0.003954 0 0 ZNF425 155054 broad.mit.edu 37 7 148815384 148815384 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:148815384G>A ENST00000378061.2 - 2 207 c.75C>T c.(73-75)atC>atT p.I25I NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 25 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ACTTCTCCAGGATCTCCCACT 0.393000 76 158 0 0 0.003610 0 0 FABP2 2169 broad.mit.edu 37 4 120241921 120241921 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:120241921G>A ENST00000274024.3 - 2 431 c.144C>T c.(142-144)ttC>ttT p.F48F NM_000134.3 NP_000125.2 P12104 FABPI_HUMAN fatty acid binding protein 2, intestinal 48 fatty acid binding breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 8 CTTTGACTGTGAATTTATTTC 0.358000 25 22 0 0 0.003954 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998981 27998981 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:27998981G>A ENST00000441525.1 - 1 585 c.471C>T c.(469-471)gtC>gtT p.V157V NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 157 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 GAGCAGTAAGGACTTGCCAGC 0.562000 13 2 0 0 0.001855 0 0 DIAPH3 81624 broad.mit.edu 37 13 60565337 60565337 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:60565337G>A ENST00000400324.4 - 12 1536 c.1316C>T c.(1315-1317)tCt>tTt p.S439F DIAPH3_ENST00000400320.1_Missense_Mutation_p.S393F|DIAPH3_ENST00000377908.2_Missense_Mutation_p.S428F|DIAPH3_ENST00000400330.1_Missense_Mutation_p.S439F|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.S439F|DIAPH3_ENST00000400319.1_Missense_Mutation_p.S369F NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 439 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) CTGAAGAATAGAAATAAAATA 0.294000 7 38 0 0 0.001984 0 0 HTR1A 3350 broad.mit.edu 37 5 63256644 63256644 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:63256644G>A ENST00000323865.3 - 1 1136 c.903C>T c.(901-903)tcC>tcT p.S301S RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 301 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AGTGCTCTTTGGAGTTGCCCA 0.642000 7 31 0 0 0.003080 0 0 CCNB3 85417 broad.mit.edu 37 X 50052425 50052425 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:50052425C>T ENST00000376042.1 + 6 1554 c.1256C>T c.(1255-1257)tCc>tTc p.S419F CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S419F|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 419 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) AAGCCATTGTCCATTAAAGAA 0.473000 51 7 0 0 0.003610 0 0 ZNF669 79862 broad.mit.edu 37 1 247263852 247263852 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:247263852G>A ENST00000343381.6 - 4 1391 c.1219C>T c.(1219-1221)Ctc>Ttc p.L407F ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.L321F NM_024804.2 NP_079080.2 Q96BR6 ZN669_HUMAN zinc finger protein 669 407 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6) 17 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) CTTTCGTGGAGGTGAAGGGAA 0.428000 86 40 0 0 0.003610 0 0 DPYD 1806 broad.mit.edu 37 1 97981487 97981487 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:97981487C>T ENST00000370192.3 - 13 1635 c.1535G>A c.(1534-1536)gGa>gAa p.G512E NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 512 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AACGGAAGCTCCATATTGTGA 0.363000 7 12 0 0 0.001984 0 0 CYFIP2 26999 broad.mit.edu 37 5 156810362 156810362 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:156810362C>T ENST00000347377.6 + 28 3633 c.3202C>T c.(3202-3204)Cct>Tct p.P1068S CYFIP2_ENST00000318218.6_Missense_Mutation_p.P1093S|CYFIP2_ENST00000435847.2_Missense_Mutation_p.P767S|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000521420.1_Missense_Mutation_p.P1042S|CYFIP2_ENST00000377576.3_Missense_Mutation_p.P1068S|CYFIP2_ENST00000522463.1_Missense_Mutation_p.P872S|CYFIP2_ENST00000541131.1_Missense_Mutation_p.P993S|CTB-47B11.3_ENST00000508443.1_RNA|CTB-47B11.3_ENST00000520658.1_RNA NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1093 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCTGGGGACCCCTCAGGTACC 0.542000 39 280 0 0 0.002222 0 0 DDN 23109 broad.mit.edu 37 12 49390542 49390542 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:49390542C>T ENST00000421952.2 - 2 2138 c.2117G>A c.(2116-2118)gGa>gAa p.G706E NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 706 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 CTTCCTATTTCCCTGTTGGGT 0.552000 OREG0021778 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 19 0 0 0.003755 0 0 RFWD2 64326 broad.mit.edu 37 1 175958589 175958589 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:175958589G>A ENST00000367669.3 - 16 2270 c.1756C>T c.(1756-1758)Cgt>Tgt p.R586C RFWD2_ENST00000308769.8_Missense_Mutation_p.R562C NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 586 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TTAGTGTTACGAAGATCATAG 0.348000 9 55 0 0 0.004482 0 0 JAG2 3714 broad.mit.edu 37 14 105618332 105618332 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:105618332G>A ENST00000331782.3 - 7 1385 c.982C>T c.(982-984)Cct>Tct p.P328S JAG2_ENST00000347004.2_Missense_Mutation_p.P328S NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 328 EGF-like 3. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) TACTGGTCAGGCTCGGCGTTG 0.657000 10 24 0 0 0.000673 0 0 NETO1 81832 broad.mit.edu 37 18 70526247 70526247 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:70526247C>T ENST00000327305.6 - 4 940 c.283G>A c.(283-285)Gag>Aag p.E95K NETO1_ENST00000299430.2_Missense_Mutation_p.E94K|NETO1_ENST00000397929.1_Missense_Mutation_p.E94K|NETO1_ENST00000583169.1_Missense_Mutation_p.E95K|NETO1_ENST00000580049.1_5'UTR NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 95 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AATTTGCACTCCCAAGACGGT 0.388000 15 44 0 0 0.002450 0 0 BCAT1 586 broad.mit.edu 37 12 24989496 24989496 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:24989496G>A ENST00000261192.7 - 8 1378 c.852C>T c.(850-852)atC>atT p.I284I BCAT1_ENST00000539282.1_Silent_p.I296I|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Silent_p.I223I|BCAT1_ENST00000539780.1_Silent_p.I247I|BCAT1_ENST00000538118.1_Silent_p.I283I NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 284 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) CTGGAAGAATGATGCCATCTA 0.418000 13 7 0 0 0.002450 0 0 DOCK4 9732 broad.mit.edu 37 7 111584865 111584865 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:111584865C>T ENST00000428084.1 - 10 1117 c.e10+1 DOCK4_ENST00000476846.1_Splice_Site|DOCK4_ENST00000437633.1_Splice_Site Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GTTATACCTACCGATTCGGAT 0.403000 28 49 0 0 0.001786 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839562 100839562 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:100839562G>A ENST00000223114.4 - 6 943 c.777C>T c.(775-777)ctC>ctT p.L259L MOGAT3_ENST00000440203.2_Silent_p.L259L|MOGAT3_ENST00000379423.3_Intron NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 259 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) AGAAGCCCATGAGCTTCTTGA 0.567000 36 4 0 0 0.004289 0 0 C11orf40 143501 broad.mit.edu 37 11 4598922 4598922 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:4598922G>A ENST00000307616.1 - 1 128 c.129C>T c.(127-129)acC>acT p.T43T NM_144663.1 NP_653264.1 Q8WZ69 CK040_HUMAN chromosome 11 open reading frame 40 43 large_intestine(3)|lung(1)|ovary(2)|stomach(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) ttggcttcagggtcagcagct 0.557000 43 14 0 0 0.006999 0 0 RTN1 6252 broad.mit.edu 37 14 60212431 60212431 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:60212431C>T ENST00000267484.5 - 2 1345 c.1010G>A c.(1009-1011)gGa>gAa p.G337E NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 337 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TTTACCTGTTCCAGAAGATGG 0.438000 27 41 0 0 0.001786 0 0 GALNT15 117248 broad.mit.edu 37 3 16261495 16261495 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:16261495C>T ENST00000339732.5 + 8 2106 c.1603C>T c.(1603-1605)Cct>Tct p.P535S GALNT15_ENST00000437509.1_Missense_Mutation_p.P535S NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 GGTGTTGGCTCCTTGCAGTGA 0.547000 78 64 0 0 0.003610 0 0 FAM105A 54491 broad.mit.edu 37 5 14601342 14601342 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:14601342G>A ENST00000274217.3 + 3 365 c.245G>A c.(244-246)aGa>aAa p.R82K NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 82 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) TATCTGCAGAGAAAATTCAAA 0.299000 6 48 0 0 0.003080 0 0 MOXD1 26002 broad.mit.edu 37 6 132645139 132645139 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:132645139G>A ENST00000367963.3 - 7 1162 c.1044C>T c.(1042-1044)ttC>ttT p.F348F MOXD1_ENST00000336749.3_Silent_p.F280F|MOXD1_ENST00000489128.1_5'UTR NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 348 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) GGATGGTATGGAAGAGGCTCA 0.488000 19 32 0 0 0.007413 0 0 SLC22A17 51310 broad.mit.edu 37 14 23818558 23818558 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:23818558G>A ENST00000354772.3 - 4 952 c.449C>T c.(448-450)tCc>tTc p.S150F SLC22A17_ENST00000397260.3_Missense_Mutation_p.S39F|SLC22A17_ENST00000397267.1_Missense_Mutation_p.S150F|SLC22A17_ENST00000206544.8_Missense_Mutation_p.S150F|SLC22A17_ENST00000474057.1_5'UTR NM_016609.3 NP_057693.3 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 150 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) GCCTGTGGAGGAGCCTGCAGC 0.607000 12 15 0 0 0.000978 0 0 DPF3 8110 broad.mit.edu 37 14 73190401 73190401 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:73190401C>T ENST00000541685.1 - 5 477 c.465G>A c.(463-465)ggG>ggA p.G155G DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Silent_p.G155G|DPF3_ENST00000546183.1_Silent_p.G165G NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 155 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CTTCTTCATTCCCTTCTTCTA 0.403000 55 23 0 0 0.003610 0 0 SSPO 23145 broad.mit.edu 37 7 149510823 149510823 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:149510823C>T ENST00000378016.2 + 0 10108 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGCCTGGACCTGCTGACCGG 0.697000 39 4 0 0 0.006230 0 0 SEMA3B 7869 broad.mit.edu 37 3 50312345 50312345 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:50312345G>A ENST00000418948.1 + 0 1663 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GCTGCTCCTGGAGGAGCTGCA 0.662000 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 15 0 0 0.003163 0 0 PKP4 8502 broad.mit.edu 37 2 159530252 159530252 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:159530252C>T ENST00000389757.3 + 18 3113 c.2988C>T c.(2986-2988)gaC>gaT p.D996D AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.D996D NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 996 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 AATATCGGGACCTCCGGAGCA 0.398000 HNSCC(62;0.18) 14 18 0 0 0.002450 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882609 228882609 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:228882609C>T ENST00000392056.3 - 7 3007 c.2961G>A c.(2959-2961)ggG>ggA p.G987G SPHKAP_ENST00000344657.5_Silent_p.G987G NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 987 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CGGTCCCGCTCCCCTGGCTCT 0.532000 18 36 0 0 0.001523 0 0 THSD7B 80731 broad.mit.edu 37 2 138330034 138330034 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:138330034G>A ENST00000409968.1 + 17 3509 c.3331G>A c.(3331-3333)Gat>Aat p.D1111N THSD7B_ENST00000413152.2_Missense_Mutation_p.D1083N|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.D1114N thrombospondin, type I, domain containing 7B p.D1083N(1)|p.D1114N(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTGCAACCAGGATGAAATTCC 0.453000 11 18 0 0 0.000673 0 0 DNAH17 8632 broad.mit.edu 37 17 76491083 76491083 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:76491083G>A ENST00000389840.5 - 39 6082 c.5958C>T c.(5956-5958)ttC>ttT p.F1986F DNAH17_ENST00000585328.1_Silent_p.F1995F|RP11-559N14.5_ENST00000591373.1_RNA dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACAGGGTGATGAACTTCCTGG 0.597000 14 9 0 0 0.004007 0 0 RFX2 5990 broad.mit.edu 37 19 5997073 5997073 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:5997073C>T ENST00000303657.5 - 16 2160 c.2011G>A c.(2011-2013)Gag>Aag p.E671K RFX2_ENST00000359161.3_Missense_Mutation_p.E671K|RFX2_ENST00000592546.1_Missense_Mutation_p.E646K|CTC-232P5.1_ENST00000587836.1_RNA NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 671 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GTCCTCACCTCTCCCATCACA 0.672000 26 26 0 0 0.007291 0 0 IQCA1 79781 broad.mit.edu 37 2 237233422 237233422 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:237233422C>T ENST00000409907.3 - 19 2652 c.2378G>A c.(2377-2379)tGg>tAg p.W793* IQCA1_ENST00000431676.2_Nonsense_Mutation_p.W752*|IQCA1_ENST00000309507.5_Nonsense_Mutation_p.W790* Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 793 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TTTGGCATACCAGTTCTGAAA 0.418000 6 5 0 0 0.001984 0 0 PCNXL2 80003 broad.mit.edu 37 1 233161005 233161005 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:233161005C>T ENST00000258229.8 - 26 4726 c.4492G>A c.(4492-4494)Gaa>Aaa p.E1498K PCNXL2_ENST00000344698.2_Missense_Mutation_p.E150K NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1498 integral to membrane p.E1498Q(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TGCGTGATTTCCCAGGTGAGC 0.612000 OREG0014326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 132 0 0 0.002096 0 0 KLF17 128209 broad.mit.edu 37 1 44595756 44595756 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:44595756G>A ENST00000372299.3 + 2 871 c.813G>A c.(811-813)ggG>ggA p.G271G KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 271 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) CTCAGGAAGGGACTGGTAGAA 0.562000 20 25 0 0 0.001882 0 0 RHBDD2 57414 broad.mit.edu 37 7 75517586 75517586 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:75517586C>T ENST00000318622.4 + 5 1220 c.591C>T c.(589-591)agC>agT p.S197S RHBDD2_ENST00000428119.1_Silent_p.S197S|RHBDD2_ENST00000006777.6_Silent_p.S338S|RHBDD2_ENST00000468304.1_3'UTR NM_001040457.1 NP_001035547.1 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 338 integral to membrane serine-type endopeptidase activity kidney(1)|lung(4)|prostate(1) 6 CTGTGAACAGCCCTGGCACGG 0.622000 128 70 0 0 0.003610 0 0 COG1 9382 broad.mit.edu 37 17 71197773 71197773 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:71197773C>T ENST00000299886.4 + 7 1887 c.1807C>T c.(1807-1809)Ctc>Ttc p.L603F NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 603 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) ACAGGATGCCCTCAACAGTGC 0.572000 4 23 0 0 0.000248 0 0 HCN4 10021 broad.mit.edu 37 15 73615779 73615779 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:73615779C>T ENST00000261917.3 - 8 3648 c.2655G>A c.(2653-2655)ggG>ggA p.G885G NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 885 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) AGCCACAGGCCCCGGGGGGTG 0.667000 6 14 0 0 0.001168 0 0 ERN2 10595 broad.mit.edu 37 16 23706640 23706640 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:23706640C>T ENST00000256797.4 - 15 1993 c.1825G>A c.(1825-1827)Gaa>Aaa p.E609K ERN2_ENST00000457008.2_Missense_Mutation_p.E509K NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 561 Protein kinase. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AGTTGAACTTCCCGCCGAACC 0.642000 4 6 0 0 0.000602 0 0 LMTK3 114783 broad.mit.edu 37 19 49001172 49001172 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:49001172G>A ENST00000600059.1 - 11 3381 c.3154C>T c.(3154-3156)Ctg>Ttg p.L1052L LMTK3_ENST00000270238.3_Silent_p.L1081L lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GCTCTCTCCAGAGAGGTCTCT 0.706000 3 2 0 0 0.004672 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993841 140993841 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:140993841C>T ENST00000285879.4 + 4 937 c.651C>T c.(649-651)tcC>tcT p.S217S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 217 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCAGAGTTCCCCTGAGAGAA 0.493000 HNSCC(15;0.026) 80 56 0 0 0.003610 0 0 RP1 6101 broad.mit.edu 37 8 55538772 55538772 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:55538772G>A ENST00000220676.1 + 4 2478 c.2330G>A c.(2329-2331)aGa>aAa p.R777K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 777 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTAACCAAAAGAAAATCTAGA 0.299000 13 31 0 0 0.002450 0 0 PIAS3 10401 broad.mit.edu 37 1 145578202 145578202 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:145578202G>A ENST00000393045.2 + 2 255 c.165G>A c.(163-165)atG>atA p.M55I PIAS3_ENST00000369298.1_Missense_Mutation_p.M55I|PIAS3_ENST00000369299.3_Missense_Mutation_p.M46I NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 55 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTGTCCAGATGAAGATCAAAG 0.587000 119 57 0 0 0.003610 0 0 MS4A14 84689 broad.mit.edu 37 11 60184081 60184081 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:60184081C>T ENST00000300187.6 + 5 1917 c.1640C>T c.(1639-1641)tCc>tTc p.S547F MS4A14_ENST00000395005.2_Missense_Mutation_p.S530F|MS4A14_ENST00000531787.1_Missense_Mutation_p.S435F|MS4A14_ENST00000531783.1_Missense_Mutation_p.S580F NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 547 Gln-rich. integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 AAGAGGCACTCCGTAGATAAG 0.453000 27 20 0 0 0.001512 0 0 BEST3 144453 broad.mit.edu 37 12 70048913 70048913 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:70048913C>T ENST00000330891.5 - 10 2007 c.1781G>A c.(1780-1782)gGa>gAa p.G594E BEST3_ENST00000553096.1_Missense_Mutation_p.G488E|BEST3_ENST00000488961.1_Missense_Mutation_p.G381E|BEST3_ENST00000331471.4_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 594 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CCCCAGGAATCCCGGAAGACT 0.507000 120 30 0 0 0.003610 0 0 BRINP1 1620 broad.mit.edu 37 9 121929812 121929812 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:121929812G>A ENST00000265922.3 - 8 2297 c.1836C>T c.(1834-1836)ttC>ttT p.F612F DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 612 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GGACCGTCTCGAAAAATGTTT 0.552000 24 84 0 0 0.003330 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058541 152058541 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:152058541G>A ENST00000368806.1 - 3 1681 c.1617C>T c.(1615-1617)ttC>ttT p.F539F NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 539 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CACTCTGTGTGAATGGTGACT 0.527000 25 90 0 0 0.004656 0 0 CHD4 1108 broad.mit.edu 37 12 6700950 6700950 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:6700950G>A ENST00000309577.6 - 21 3295 c.3132C>T c.(3130-3132)gcC>gcT p.A1044A CHD4_ENST00000357008.2_Silent_p.A1044A|CHD4_ENST00000544040.1_Silent_p.A1037A|CHD4_ENST00000544484.1_Silent_p.A1041A Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1044 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CTCTGATTAGGGCACTGCCAT 0.438000 8 21 0 0 0.003080 0 0 KAT2A 2648 broad.mit.edu 37 17 40266928 40266928 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:40266928G>A ENST00000225916.5 - 13 2054 c.2001C>T c.(1999-2001)atC>atT p.I667I NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 667 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GCTTCTTGATGATGTGGGACA 0.552000 56 90 0 0 0.003610 0 0 DGUOK 1716 broad.mit.edu 37 2 74173931 74173931 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:74173931C>T ENST00000264093.4 + 3 426 c.341C>T c.(340-342)tCc>tTc p.S114F DGUOK_ENST00000356837.6_Missense_Mutation_p.S92F|DGUOK_ENST00000348222.1_Missense_Mutation_p.S114F|DGUOK_ENST00000462685.1_3'UTR NM_080916.2 NP_550438.1 Q16854 DGUOK_HUMAN deoxyguanosine kinase 114 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8 CAGACATTTTCCTTTTTGAGC 0.507000 12 37 0 0 0.000978 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149216017 149216017 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:149216017C>T ENST00000309241.5 + 8 2031 c.1999C>T c.(1999-2001)Cac>Tac p.H667Y PPARGC1B_ENST00000360453.4_Missense_Mutation_p.H628Y|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.H667Y|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.H603Y NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 667 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GCTCCTGTCCCACCTGCGACA 0.642000 15 76 0 0 0.002450 0 0 DOCK4 9732 broad.mit.edu 37 7 111430560 111430560 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:111430560G>A ENST00000428084.1 - 31 3540 c.3268C>T c.(3268-3270)Cat>Tat p.H1090Y DOCK4_ENST00000437633.1_Missense_Mutation_p.H1090Y Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1090 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) ATCATATCATGAAAAATTGGA 0.483000 20 55 0 0 0.002299 0 0 TEAD4 7004 broad.mit.edu 37 12 3129854 3129854 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:3129854C>T ENST00000359864.2 + 9 828 c.638C>T c.(637-639)cCa>cTa p.P213L TEAD4_ENST00000358409.2_Missense_Mutation_p.P170L|TEAD4_ENST00000397122.2_Missense_Mutation_p.P84L NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 213 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CCGGCACCCCCATGGCAGGGC 0.662000 8 43 0 0 0.004482 0 0 NAALADL1 10004 broad.mit.edu 37 11 64825463 64825463 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:64825463G>A ENST00000358658.3 - 3 391 c.364C>T c.(364-366)Ccc>Tcc p.P122S NAALADL1_ENST00000355369.2_Missense_Mutation_p.P122S|NAALADL1_ENST00000340252.4_Missense_Mutation_p.P122S|NAALADL1_ENST00000355721.3_Missense_Mutation_p.P122S|NAALADL1_ENST00000356632.3_Missense_Mutation_p.P122S|NAALADL1_ENST00000339885.2_Missense_Mutation_p.P122S NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 122 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 CCCCCAGTGGGGCCCACTGTT 0.652000 23 68 0 0 0.004656 0 0 GAB4 128954 broad.mit.edu 37 22 17445721 17445721 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:17445721G>A ENST00000400588.1 - 8 1518 c.1411C>T c.(1411-1413)Ccc>Tcc p.P471S NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 471 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) GTGGAGATGGGGTGTTGGGAG 0.572000 14 52 0 0 0.004007 0 0 SF3A3 10946 broad.mit.edu 37 1 38435130 38435130 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:38435130G>A ENST00000373019.4 - 14 2132 c.1177C>T c.(1177-1179)Ccc>Tcc p.P393S SF3A3_ENST00000448721.2_Missense_Mutation_p.P340S NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 393 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGCCAGTAGGGAATAGGCTAA 0.413000 27 29 0 0 0.007291 0 0 RDH12 145226 broad.mit.edu 37 14 68191281 68191281 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:68191281G>A ENST00000551171.1 + 4 484 c.160G>A c.(160-162)Gag>Aag p.E54K RDH12_ENST00000267502.3_Missense_Mutation_p.E54K|RDH12_ENST00000539142.1_Missense_Mutation_p.E54K NM_152443.2 NP_689656.2 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 54 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4) 12 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) CATTGGCAAGGAGACGGCCAG 0.557000 11 15 0 0 0.000673 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37440991 37440991 + Missense_Mutation SNP C C T rs45515098 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:37440991C>T ENST00000374660.1 + 12 1580 c.1481C>T c.(1480-1482)cCg>cTg p.P494L ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P494L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P494L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 550 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TTTATAGATCCGATGTTCCCA 0.294000 26 26 0 0 0.006320 0 0 NACA 4666 broad.mit.edu 37 12 57111330 57111330 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57111330G>A ENST00000454682.1 - 3 4265 c.3984C>T c.(3982-3984)ccC>ccT p.P1328P NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CCCCTTTGGGGGGTGGGGTAC 0.632000 T BCL6 NHL 22 116 0 0 0.005443 0 0 IDI2 91734 broad.mit.edu 37 10 1066776 1066776 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:1066776C>T ENST00000277517.1 - 4 361 c.297G>A c.(295-297)aaG>aaA p.K99K NM_033261.2 NP_150286.1 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 99 Nudix hydrolase. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) CGATGGCATCCTTTTCTTCCA 0.522000 12 6 0 0 0.000978 0 0 RARS 5917 broad.mit.edu 37 5 167920929 167920929 + Missense_Mutation SNP C C T rs145783542 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:167920929C>T ENST00000231572.3 + 4 454 c.400C>T c.(400-402)Cca>Tca p.P134S RARS_ENST00000538719.1_Intron NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 134 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) GAAAGTTAATCCAAGAGAAAT 0.358000 9 49 0 0 0.001855 0 0 ZNF180 7733 broad.mit.edu 37 19 44981195 44981195 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:44981195G>A ENST00000221327.4 - 5 1784 c.1503C>T c.(1501-1503)tcC>tcT p.S501S ZNF180_ENST00000391956.4_Silent_p.S476S|ZNF180_ENST00000592529.1_Silent_p.S474S NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) TTTGACTAAAGGATTTCCCAC 0.383000 16 43 0 0 0.004007 0 0 CTSO 1519 broad.mit.edu 37 4 156858553 156858553 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:156858553G>A ENST00000433477.3 - 5 704 c.635C>T c.(634-636)tCt>tTt p.S212F NM_001334.2 NP_001325.1 P43234 CATO_HUMAN cathepsin O 212 proteolysis lysosome cysteine-type endopeptidase activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1) 16 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) TGAAAATCCAGAATGTGAACC 0.294000 10 21 0 0 0.000978 0 0 CASR 846 broad.mit.edu 37 3 121981248 121981248 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:121981248G>A ENST00000498619.1 + 4 1804 c.1366G>A c.(1366-1368)Gag>Aag p.E456K CASR_ENST00000296154.5_Missense_Mutation_p.E456K|CASR_ENST00000490131.1_Missense_Mutation_p.E456K NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 456 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CAAGAAAGTTGAGGCGTGGCA 0.463000 19 49 0 0 0.002299 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686096 108686096 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:108686096C>T ENST00000397688.2 - 3 1007 c.638G>A c.(637-639)aGc>aAc p.S213N CMKLR1_ENST00000552995.1_Missense_Mutation_p.S213N|CMKLR1_ENST00000412676.1_Missense_Mutation_p.S215N|CMKLR1_ENST00000312143.7_Missense_Mutation_p.S215N|CMKLR1_ENST00000550402.1_Missense_Mutation_p.S215N NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 215 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 CATGTGCCGGCTATACCCCAC 0.557000 26 9 0 0 0.005443 0 0 SYK 6850 broad.mit.edu 37 9 93650881 93650881 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:93650881G>A ENST00000375754.4 + 13 1955 c.1807G>A c.(1807-1809)Gat>Aat p.D603N SYK_ENST00000375747.1_Missense_Mutation_p.D580N|SYK_ENST00000375746.1_Missense_Mutation_p.D603N|SYK_ENST00000375751.4_Missense_Mutation_p.D580N NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 603 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity p.D580H(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 AGAGATGTACGATCTCATGAA 0.478000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 4 7 0 0 0.000248 0 0 CTDSP2 10106 broad.mit.edu 37 12 58217423 58217423 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:58217423C>T ENST00000398073.2 - 8 1081 c.778G>A c.(778-780)Gac>Aac p.D260N CTDSP2_ENST00000547701.1_Missense_Mutation_p.D108N|CTDSP2_ENST00000548823.1_Missense_Mutation_p.D87N NM_005730.3 NP_005721.3 O14595 CTDS2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 260 protein dephosphorylation nucleus|soluble fraction CTD phosphatase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122) GTGTAGACGTCCTCTGCTCCG 0.597000 86 16 0 0 0.003610 0 0 ARAP1 116985 broad.mit.edu 37 11 72423533 72423533 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:72423533G>A ENST00000359373.5 - 6 1679 c.828C>T c.(826-828)gaC>gaT p.D276D ARAP1_ENST00000393605.3_Silent_p.D36D|ARAP1_ENST00000426523.1_Silent_p.D31D|ARAP1_ENST00000393609.3_Silent_p.D276D|ARAP1_ENST00000455638.2_Silent_p.D276D|ARAP1_ENST00000429686.1_Silent_p.D31D|ARAP1_ENST00000334211.8_Silent_p.D31D Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 276 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CCCCTTGGTCGTCCCCAGACA 0.682000 86 195 0 0 0.003610 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44386159 44386159 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:44386159C>T ENST00000335430.6 + 8 770 c.593C>T c.(592-594)tCa>tTa p.S198L ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372368.2_Silent_p.F330F|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000351035.3_Silent_p.F314F|ST3GAL3_ENST00000361746.4_Silent_p.F345F|ST3GAL3_ENST00000372372.2_Silent_p.F314F|ST3GAL3_ENST00000347631.2_Silent_p.F291F|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000361400.4_Silent_p.F260F|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372375.2_Silent_p.F330F|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000332628.6_Silent_p.F245F|ST3GAL3_ENST00000361392.4_Silent_p.F276F|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000262915.3_Silent_p.F345F|ST3GAL3_ENST00000372374.2_Silent_p.F245F Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) ACCCATATTTCATCCAGGAGG 0.577000 19 37 0 0 0.007413 0 0 LRRK1 79705 broad.mit.edu 37 15 101595334 101595334 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:101595334C>T ENST00000284395.5 + 28 4629 c.4229C>T c.(4228-4230)tCg>tTg p.S1410L LRRK1_ENST00000388948.3_Missense_Mutation_p.S1413L|RP11-505E24.2_ENST00000559857.1_RNA Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1413 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TACGGGATTTCGAGGCAGTCA 0.522000 38 38 0 0 0.007835 0 0 ESM1 11082 broad.mit.edu 37 5 54281313 54281313 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:54281313G>A ENST00000381405.4 - 1 178 c.33C>T c.(31-33)ctC>ctT p.L11L ESM1_ENST00000381403.4_Silent_p.L11L|ESM1_ENST00000598310.1_Intron NM_007036.4 NP_008967.1 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 11 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding breast(1)|kidney(1)|large_intestine(4)|lung(4) 10 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) GTGCAGGCACGAGGAGCGTGG 0.602000 5 43 0 0 0.000602 0 0 PTPRD 5789 broad.mit.edu 37 9 8501060 8501060 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:8501060C>T ENST00000381196.4 - 21 2366 c.e21-1 PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCTGACGGCTCTTATTTTGGT 0.383000 TSP Lung(15;0.13) 4 4 0 0 0.000248 0 0 RASA3 22821 broad.mit.edu 37 13 114766341 114766341 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:114766341G>A ENST00000334062.7 - 19 1931 c.1810C>T c.(1810-1812)Cgc>Tgc p.R604C RASA3_ENST00000389544.4_Missense_Mutation_p.R572C NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 604 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TTGGTCAAGCGAAACCATCTC 0.537000 37 20 0 0 0.002852 0 0 CASR 846 broad.mit.edu 37 3 122003000 122003000 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:122003000C>T ENST00000498619.1 + 7 2667 c.2229C>T c.(2227-2229)ttC>ttT p.F743F CASR_ENST00000296154.5_Silent_p.F733F|CASR_ENST00000490131.1_Silent_p.F733F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 733 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TCTGCACCTTCATGCAGATTG 0.577000 15 34 0 0 0.003163 0 0 SLC25A28 81894 broad.mit.edu 37 10 101372327 101372327 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:101372327G>A ENST00000370495.4 - 3 578 c.550C>T c.(550-552)Cat>Tat p.H184Y SLC25A28_ENST00000496035.1_5'UTR NM_031212.3 NP_112489.3 Q96A46 MFRN2_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 28 184 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane p.H184N(1) endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1) 11 Colorectal(252;0.234) Epithelial(162;2.57e-10)|all cancers(201;2.01e-08) GCTGCATCATGAAGTAATGTT 0.498000 OREG0020433 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 87 0 0 0.003271 0 0 KDM4D 55693 broad.mit.edu 37 11 94731674 94731674 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:94731674C>T ENST00000335080.5 + 3 1970 c.1138C>T c.(1138-1140)Cac>Tac p.H380Y KDM4D_ENST00000536741.1_Missense_Mutation_p.H380Y NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 380 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 ACTCCCTTCCCACTGGGCCCG 0.632000 15 13 0 0 0.002450 0 0 CEP170B 283638 broad.mit.edu 37 14 105355926 105355926 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:105355926C>T ENST00000453495.1 + 13 4045 c.3817C>T c.(3817-3819)Ccc>Tcc p.P1273S CEP170B_ENST00000556508.1_Missense_Mutation_p.P1202S|CEP170B_ENST00000418279.1_Intron|CEP170B_ENST00000414716.3_Intron centrosomal protein 170B CCACGGCTCCCCCAAACACAC 0.667000 9 8 0 0 0.006214 0 0 KIF5A 3798 broad.mit.edu 37 12 57971510 57971510 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57971510G>A ENST00000455537.2 + 21 2589 c.2315G>A c.(2314-2316)cGa>cAa p.R772Q KIF5A_ENST00000286452.5_Missense_Mutation_p.R683Q NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 772 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CTGTACGAGCGACATGAGCAG 0.498000 8 95 0 0 0.004482 0 0 PSD3 23362 broad.mit.edu 37 8 18413764 18413764 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:18413764C>T ENST00000440756.2 - 15 2991 c.2889G>A c.(2887-2889)aaG>aaA p.K963K PSD3_ENST00000327040.8_Silent_p.K961K|PSD3_ENST00000286485.8_Silent_p.K427K|PSD3_ENST00000523619.1_Silent_p.K896K|PSD3_ENST00000428502.2_Silent_p.K290K Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 962 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CATCGACGTCCTTGGCTTTGA 0.473000 43 34 0 0 0.003610 0 0 TIMM44 10469 broad.mit.edu 37 19 7998811 7998811 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:7998811G>A ENST00000270538.3 - 6 889 c.621C>T c.(619-621)ctC>ctT p.L207L NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 207 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 TTCTCTTCCGGAGTCGCTGGG 0.617000 12 40 0 0 0.001368 0 0 FAM83B 222584 broad.mit.edu 37 6 54805757 54805757 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:54805757G>A ENST00000306858.7 + 5 2104 c.1988G>A c.(1987-1989)cGa>cAa p.R663Q NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 663 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CTTAAAAGGCGAAGTTTCCCG 0.343000 82 50 0 0 0.003610 0 0 PRMT7 54496 broad.mit.edu 37 16 68386189 68386189 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:68386189C>T ENST00000339507.5 + 15 2282 c.1452C>T c.(1450-1452)agC>agT p.S484S PRMT7_ENST00000449359.3_Silent_p.S434S|PRMT7_ENST00000348497.4_Silent_p.S336S|PRMT7_ENST00000441236.1_Silent_p.S434S Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 484 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) TCACTACCAGCCTGCTGCCGT 0.637000 15 44 0 0 0.007413 0 0 KIRREL 55243 broad.mit.edu 37 1 158063217 158063217 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:158063217C>T ENST00000368172.1 + 8 1014 c.1002C>T c.(1000-1002)ctC>ctT p.L334L KIRREL_ENST00000359209.6_Silent_p.L520L|KIRREL_ENST00000360089.4_Silent_p.L356L|KIRREL_ENST00000392272.2_Silent_p.L417L|KIRREL_ENST00000416935.2_Silent_p.L420L|KIRREL_ENST00000368173.3_Silent_p.L536L Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 520 Ig-like C2-type 4. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) TATTCTTCCTCTACCGGCGCC 0.602000 22 94 0 0 0.001882 0 0 MIR205HG 642587 broad.mit.edu 37 1 209605484 209605484 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:209605484C>T ENST00000384891.1 + 0 7 NR_029622.1 AGAAAAAGATCCTCAGACAAT 0.507000 6 34 0 0 0.001984 0 0 MARCO 8685 broad.mit.edu 37 2 119748191 119748191 + Missense_Mutation SNP G G C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:119748191G>C ENST00000541757.1 + 14 1236 c.856G>C c.(856-858)Gga>Cga p.G286R MARCO_ENST00000327097.4_Missense_Mutation_p.G364R Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 364 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 AGGAAGAAAAGGAGAATCAGG 0.458000 15 33 0 0 0.001216 0 0 BRSK1 84446 broad.mit.edu 37 19 55816924 55816924 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55816924C>T ENST00000309383.1 + 16 2137 c.1860C>T c.(1858-1860)atC>atT p.I620I BRSK1_ENST00000590333.1_Silent_p.I636I|BRSK1_ENST00000326848.7_Silent_p.I315I NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 620 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TCAGCAGCATCAAAGCAGACA 0.557000 59 226 0 0 0.003610 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43926862 43926862 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:43926862C>T ENST00000282406.4 + 8 875 c.765C>T c.(763-765)acC>acT p.T255T NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 255 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGCATCAAACCCCTTGTGGCT 0.443000 161 132 0 0 0.003610 0 0 FLNC 2318 broad.mit.edu 37 7 128484222 128484222 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:128484222G>A ENST00000325888.8 + 20 3355 c.3094G>A c.(3094-3096)Gag>Aag p.E1032K FLNC_ENST00000346177.6_Missense_Mutation_p.E1032K NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1032 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CATGCCCCCGGAGGAGGGGCC 0.662000 24 28 0 0 0.002780 0 0 SEZ6L 23544 broad.mit.edu 37 22 26707874 26707874 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr22:26707874G>A ENST00000529632.2 + 8 2018 c.1822G>A c.(1822-1824)Gaa>Aaa p.E608K SEZ6L_ENST00000404234.3_Missense_Mutation_p.E608K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E381K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E608K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E608K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E608K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E381K NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 608 Sushi 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GGCCATCATCGAATGCATCAA 0.592000 162 20 0 0 0.003610 0 0 EVPL 2125 broad.mit.edu 37 17 74004206 74004206 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:74004206C>T ENST00000301607.3 - 22 5333 c.5080G>A c.(5080-5082)Ggg>Agg p.G1694R EVPL_ENST00000586740.1_Missense_Mutation_p.G1716R NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1694 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 ATGTCCTTCCCCGTCTCGGGT 0.617000 21 68 0 0 0.001882 0 0 SCN5A 6331 broad.mit.edu 37 3 38620979 38620979 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:38620979G>A ENST00000413689.1 - 18 3429 c.3236C>T c.(3235-3237)tCc>tTc p.S1079F SCN5A_ENST00000414099.2_Missense_Mutation_p.S1079F|SCN5A_ENST00000425664.1_Missense_Mutation_p.S1079F|SCN5A_ENST00000423572.2_Missense_Mutation_p.S1078F|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.S1078F|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.S1078F|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.S1079F NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1079 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CACAGGCTGGGATTCCTGCTG 0.647000 12 17 0 0 0.003163 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657494 72657494 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:72657494C>T ENST00000425256.1 - 0 2417 NR_002164.1 ttctggtattcccaccttgtc 0.507000 83 175 0 0 0.003610 0 0 ZFP14 57677 broad.mit.edu 37 19 36831728 36831728 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:36831728G>A ENST00000270001.7 - 5 1115 c.1000C>T c.(1000-1002)Cat>Tat p.H334Y NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) TCACCAAAATGAATTTTCTGA 0.403000 11 51 0 0 0.000978 0 0 PCDH12 51294 broad.mit.edu 37 5 141324995 141324995 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:141324995C>T ENST00000231484.3 - 4 4716 c.3506G>A c.(3505-3507)gGg>gAg p.G1169E NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 1169 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCTCAGTCCCCGTCTTTCC 0.617000 10 11 0 0 0.000978 0 0 CNGA3 1261 broad.mit.edu 37 2 99012539 99012539 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:99012539G>A ENST00000393504.1 + 8 1323 c.906G>A c.(904-906)agG>agA p.R302R CNGA3_ENST00000436404.2_Silent_p.R284R|CNGA3_ENST00000272602.2_Silent_p.R302R|CNGA3_ENST00000409937.1_Silent_p.R306R NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 302 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 ATATGTTCAGGATTGGGAACT 0.468000 50 33 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13900349 13900349 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:13900349C>T ENST00000265104.4 - 15 2329 c.2225G>A c.(2224-2226)cGa>cAa p.R742Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 742 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTATCTATCTCGTTTCTGGAA 0.388000 Kartagener syndrome 8 49 0 0 0.004482 0 0 ZNF37BP 100129482 broad.mit.edu 37 10 43018724 43018724 + RNA SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:43018724G>A ENST00000473592.1 - 0 2529 TCCAATTTGAGGATCACTTCT 0.428000 10 17 0 0 0.000673 0 0 F2 2147 broad.mit.edu 37 11 46747446 46747446 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:46747446C>T ENST00000311907.5 + 7 653 c.597C>T c.(595-597)tcC>tcT p.S199S F2_ENST00000530231.1_Silent_p.S199S NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 199 Cleavage; by thrombin. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) CTCCACGCTCCGAAGGCTCCA 0.612000 47 7 0 0 0.003610 0 0 FZD7 8324 broad.mit.edu 37 2 202900514 202900514 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:202900514C>T ENST00000286201.1 + 1 1205 c.1144C>T c.(1144-1146)Cac>Tac p.H382Y NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 382 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 GCAGTACTTCCACCTGGCCGC 0.652000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 28 0 0 0.004482 0 0 CCDC173 129881 broad.mit.edu 37 2 170537609 170537609 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:170537609C>T ENST00000447353.1 - 2 307 c.202G>A c.(202-204)Gaa>Aaa p.E68K NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 CATGCTGCTTCTCTTGTCAAC 0.428000 26 62 0 0 0.001512 0 0 NFAT5 10725 broad.mit.edu 37 16 69727437 69727437 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:69727437C>T ENST00000349945.1 + 14 4979 c.3427C>T c.(3427-3429)Cca>Tca p.P1143S NFAT5_ENST00000393742.2_Missense_Mutation_p.P1143S|NFAT5_ENST00000432919.1_Missense_Mutation_p.P1237S|NFAT5_ENST00000354436.2_Missense_Mutation_p.P1219S|NFAT5_ENST00000567239.1_Missense_Mutation_p.P1236S|NFAT5_ENST00000566899.1_Missense_Mutation_p.P1143S NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1219 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GGGCTCCCTTCCACCTAATCC 0.522000 17 65 0 0 0.001523 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30867998 30867998 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:30867998G>A ENST00000251071.5 - 15 3295 c.2545C>T c.(2545-2547)Ccc>Tcc p.P849S CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P848S|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P515S|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.P793S|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P799S NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 849 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GTAGGTCTGGGAAACACATTC 0.438000 25 44 0 0 0.005443 0 0 DHX34 9704 broad.mit.edu 37 19 47856917 47856917 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:47856917C>T ENST00000328771.4 + 2 979 c.630C>T c.(628-630)acC>acT p.T210T NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 210 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) TGGCGTGCACCCAGCCCCGGC 0.637000 6 20 0 0 0.003080 0 0 RP1 6101 broad.mit.edu 37 8 55538384 55538384 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:55538384G>A ENST00000220676.1 + 4 2090 c.1942G>A c.(1942-1944)Gaa>Aaa p.E648K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 648 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACTAATTAATGAATTTGCTCA 0.348000 11 20 0 0 0.000673 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102468007 102468007 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:102468007C>T ENST00000360184.4 + 21 4695 c.4531C>T c.(4531-4533)Ccg>Tcg p.P1511S NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1511 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GAAGCTCTCTCCGTATTACAA 0.502000 21 10 0 0 0.001523 0 0 OR6F1 343169 broad.mit.edu 37 1 247875172 247875172 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:247875172C>T ENST00000302084.2 - 1 933 c.886G>A c.(886-888)Gaa>Aaa p.E296K RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E296K(1) breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TCTCTTACTTCCTTATTACGA 0.428000 25 98 0 0 0.001786 0 0 USP5 8078 broad.mit.edu 37 12 6973281 6973281 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:6973281C>T ENST00000229268.8 + 17 2218 c.2166C>T c.(2164-2166)ccC>ccT p.P722P USP5_ENST00000389231.5_Silent_p.P699P NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 722 UBA 2. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 CAGCCGACCCCCCTCCTGAGG 0.627000 14 78 0 0 0.001855 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152613 50152613 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:50152613C>T ENST00000284509.6 - 28 3498 c.3357G>A c.(3355-3357)cgG>cgA p.R1119R ATP8B4_ENST00000559829.1_Silent_p.R1119R NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1119 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACCTGCGGGTCCGAGGCCTTC 0.498000 24 48 0 0 0.002299 0 0 TMEM202 338949 broad.mit.edu 37 15 72691003 72691003 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:72691003C>T ENST00000341689.3 + 2 145 c.91C>T c.(91-93)Cct>Tct p.P31S TMEM202_ENST00000567679.1_Intron NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 31 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 GCCTACCGTCCCTGCCAAGAA 0.532000 27 36 0 0 0.001512 0 0 DMBT1 1755 broad.mit.edu 37 10 124402907 124402907 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:124402907C>T ENST00000338354.3 + 53 7341 c.7235C>T c.(7234-7236)cCt>cTt p.P2412L DMBT1_ENST00000368909.3_Missense_Mutation_p.P2412L|DMBT1_ENST00000359586.6_Missense_Mutation_p.P1132L|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1784L|DMBT1_ENST00000344338.3_Missense_Mutation_p.P2402L|DMBT1_ENST00000368955.3_Missense_Mutation_p.P2402L|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1784L Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2412 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GAAGAGGAGCCTCGGTAGGTG 0.612000 3 12 0 0 0.004672 0 0 SMR3A 26952 broad.mit.edu 37 4 71232589 71232589 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:71232589C>T ENST00000226460.4 + 3 379 c.283C>T c.(283-285)Cct>Tct p.P95S NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 95 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) ACACTCTCTTCCTCCTCCTTA 0.532000 23 39 0 0 0.006320 0 0 C16orf89 146556 broad.mit.edu 37 16 5110325 5110325 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:5110325C>T ENST00000315997.5 - 3 672 c.471G>A c.(469-471)gaG>gaA p.E157E C16orf89_ENST00000350219.4_Silent_p.E195E|C16orf89_ENST00000474471.3_Silent_p.E157E|C16orf89_ENST00000472572.3_Silent_p.E157E|C16orf89_ENST00000422873.1_Silent_p.E195E|ALG1_ENST00000588623.1_Intron NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 157 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 CGTCACTTCTCTCCTCTGAGA 0.602000 15 22 0 0 0.006122 0 0 AKAP3 10566 broad.mit.edu 37 12 4737890 4737890 + Silent SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:4737890G>T ENST00000545990.2 - 5 702 c.178C>A c.(178-180)Cgg>Agg p.R60R AKAP3_ENST00000228850.1_Silent_p.R60R NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 60 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 GGTTTGAACCGAACATCTTGG 0.502000 6 26 0.00116845 0.00187356 0.001168 1 0 TTLL10 254173 broad.mit.edu 37 1 1117796 1117796 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:1117796G>A ENST00000379290.1 + 10 1059 c.886G>A c.(886-888)Gag>Aag p.E296K TTLL10_ENST00000379288.3_Missense_Mutation_p.E223K|TTLL10_ENST00000379289.1_Missense_Mutation_p.E296K Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 296 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCTCAAACACGAGAGAGAGGC 0.622000 27 21 0 0 0.002096 0 0 CUX1 1523 broad.mit.edu 37 7 101926061 101926061 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:101926061G>A ENST00000437600.4 + 22 2306 c.1954G>A c.(1954-1956)Gcc>Acc p.A652T CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Missense_Mutation_p.A654T|CUX1_ENST00000425244.2_Missense_Mutation_p.A608T|CUX1_ENST00000393824.3_Missense_Mutation_p.A615T|CUX1_ENST00000547394.2_Missense_Mutation_p.A638T NM_181500.2 NP_852477.1 P39880 CUX1_HUMAN cut-like homeobox 1 0 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A654T(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CACCTTCTGCGCCAAGAAGTG 0.662000 7 42 0 0 0.000673 0 0 SLC16A9 220963 broad.mit.edu 37 10 61413575 61413575 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:61413575C>T ENST00000395348.3 - 5 1845 c.1209G>A c.(1207-1209)ggG>ggA p.G403G SLC16A9_ENST00000395347.1_Silent_p.G403G NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 403 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 ACCCTAGGATCCCAGAAAGCA 0.413000 13 48 0 0 0.001855 0 0 TIMM44 10469 broad.mit.edu 37 19 7997560 7997560 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:7997560G>A ENST00000270538.3 - 9 1207 c.939C>T c.(937-939)gaC>gaT p.D313D NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 313 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 TCAGAAACCGGTCCTTGTCAA 0.637000 17 41 0 0 0.007413 0 0 DSP 1832 broad.mit.edu 37 6 7581653 7581653 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:7581653G>A ENST00000379802.3 + 23 5571 c.5230G>A c.(5230-5232)Gat>Aat p.D1744N DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1744 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGCGGACAGTGATAAAAATGC 0.502000 28 154 0 0 0.006320 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478219 42478219 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:42478219G>A ENST00000434000.1 - 9 1274 c.992C>T c.(991-993)cCc>cTc p.P331L GPATCH8_ENST00000591680.1_Missense_Mutation_p.P409L Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 409 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) AAGTAGAAAGGGAAAATTAGG 0.428000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 98 0 0 0.001216 0 0 TSPAN33 340348 broad.mit.edu 37 7 128802354 128802354 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:128802354C>T ENST00000289407.4 + 3 389 c.280C>T c.(280-282)Ctg>Ttg p.L94L NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 94 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 CATCTGCCTCCTGCAGACGGT 0.617000 8 53 0 0 0.004482 0 0 TAP2 6891 broad.mit.edu 37 6 32797178 32797178 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:32797178G>A ENST00000374897.2 - 11 2062 c.1932_splice c.e11+1 p.A644_splice TAP2_ENST00000452392.2_Splice_Site_p.A644_splice|TAP2_ENST00000374899.4_Splice_Site_p.A644_splice NM_000544.3 NP_000535.3 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 644 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding GGTACTCACGGCCTGCTCGCA 0.622000 12 4 0 0 0.001855 0 0 ZNF678 339500 broad.mit.edu 37 1 227843247 227843247 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:227843247C>T ENST00000343776.4 + 4 1641 c.1296C>T c.(1294-1296)ccC>ccT p.P432P ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Silent_p.P487P F5GXA7 F5GXA7_HUMAN zinc finger protein 678 487 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) GAGAGAAACCCTACAAATGTA 0.363000 32 13 0 0 0.002096 0 0 SNTG1 54212 broad.mit.edu 37 8 51306823 51306823 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:51306823G>A ENST00000522124.1 + 3 686 c.25G>A c.(25-27)Gag>Aag p.E9K SNTG1_ENST00000518864.1_Missense_Mutation_p.E9K|SNTG1_ENST00000276467.5_Missense_Mutation_p.E9K|SNTG1_ENST00000517473.1_Missense_Mutation_p.E9K NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 9 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CGCCTGTGAGGAGGTGAGTAC 0.443000 17 27 0 0 0.007413 0 0 LRTM1 57408 broad.mit.edu 37 3 54958747 54958747 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:54958747G>A ENST00000273286.5 - 2 665 c.503C>T c.(502-504)tCc>tTc p.S168F CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.S92F|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 168 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) ACTGGGCATGGATTCCAGGAG 0.478000 18 54 0 0 0.007413 0 0 OGDHL 55753 broad.mit.edu 37 10 50952095 50952095 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:50952095G>A ENST00000374103.4 - 14 1891 c.1806C>T c.(1804-1806)acC>acT p.T602T OGDHL_ENST00000432695.1_Silent_p.T393T|OGDHL_ENST00000419399.1_Silent_p.T545T NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 602 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TGCCGATGTGGGTGAGCATGT 0.617000 18 21 0 0 0.001216 0 0 KCNB2 9312 broad.mit.edu 37 8 73849858 73849858 + Silent SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:73849858C>A ENST00000523207.1 + 3 2856 c.2268C>A c.(2266-2268)ctC>ctA p.L756L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 756 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GTACCATCCTCTTAGAAGAAA 0.607000 6 113 0.00307968 0.00492749 0.003080 1 0 CCDC62 84660 broad.mit.edu 37 12 123285920 123285920 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:123285920C>T ENST00000253079.6 + 9 1571 c.1227C>T c.(1225-1227)ctC>ctT p.L409L CCDC62_ENST00000537566.1_Silent_p.L170L|CCDC62_ENST00000392441.4_Silent_p.L409L|CCDC62_ENST00000392440.2_Silent_p.L170L NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 409 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) AACACAACCTCCCTTGGTCTC 0.418000 12 5 0 0 0.003163 0 0 APOB 338 broad.mit.edu 37 2 21225520 21225520 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:21225520C>T ENST00000233242.1 - 29 12901 c.12774G>A c.(12772-12774)agG>agA p.R4258R NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4258 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTTTATGTTTCCTTAACTCGA 0.368000 138 424 0 0 0.003610 0 0 GPR4 2828 broad.mit.edu 37 19 46095087 46095087 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:46095087G>A ENST00000323040.4 - 2 982 c.38C>T c.(37-39)tCg>tTg p.S13L OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 13 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GTCCACGCGCGAGTCCACGTG 0.687000 11 34 0 0 0.002450 0 0 CEACAM8 1088 broad.mit.edu 37 19 43097711 43097711 + Missense_Mutation SNP C C A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:43097711C>A ENST00000244336.5 - 2 507 c.406G>T c.(406-408)Ggc>Tgc p.G136C LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 136 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) CTGAACTGGCCAGTTACTTCT 0.512000 7 110 0.000157383 0.000253028 0.003080 1 0 C20orf26 26074 broad.mit.edu 37 20 20037323 20037323 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:20037323G>A ENST00000245957.5 + 2 102 c.26G>A c.(25-27)gGa>gAa p.G9E C20orf26_ENST00000451767.2_Missense_Mutation_p.G9E|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.G9E NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 9 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TCTCCAAGAGGAAAGGTAGAA 0.358000 34 33 0 0 0.004289 0 0 ADCY8 114 broad.mit.edu 37 8 131826339 131826339 + Missense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:131826339G>T ENST00000286355.5 - 14 4981 c.2889C>A c.(2887-2889)ttC>ttA p.F963L ADCY8_ENST00000377928.3_Missense_Mutation_p.F832L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 963 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CCTTCTCTAGGAAATGGCGGG 0.522000 HNSCC(32;0.087) 23 55 3.01185e-09 4.87633e-09 0.003954 1 0 DNAH5 1767 broad.mit.edu 37 5 13914702 13914702 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:13914702C>T ENST00000265104.4 - 10 1351 c.1247G>A c.(1246-1248)gGa>gAa p.G416E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 416 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGAAGCGGTTCCATTATTGGT 0.358000 Kartagener syndrome 42 35 0 0 0.002852 0 0 GCKR 2646 broad.mit.edu 37 2 27730125 27730125 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:27730125C>T ENST00000264717.2 + 13 1153 c.1090C>T c.(1090-1092)Ctc>Ttc p.L364F GCKR_ENST00000424318.2_Missense_Mutation_p.L174F NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 364 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) CCGTGGCTTTCTCATTGGTGA 0.493000 187 137 0 0 0.003610 0 0 NGLY1 55768 broad.mit.edu 37 3 25781208 25781208 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:25781208G>A ENST00000428257.1 - 5 848 c.741C>T c.(739-741)aaC>aaT p.N247N NGLY1_ENST00000417874.2_Silent_p.N205N|NGLY1_ENST00000280700.5_Silent_p.N247N|NGLY1_ENST00000422724.2_Intron|NGLY1_ENST00000396649.3_Silent_p.N247N NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 247 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 TGCACAAAACGTTATTCACCC 0.418000 46 54 0 0 0.003610 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15124054 15124054 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:15124054G>A ENST00000253699.3 - 9 1273 c.660C>T c.(658-660)ccC>ccT p.P220P ZFYVE20_ENST00000449964.2_Intron|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000476527.2_Silent_p.P220P NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 220 Necessary for the correct targeting to endosomes.|Ser-rich. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 GGACACTGTTGGGTGACTGGC 0.602000 26 17 0 0 0.007291 0 0 RBP3 5949 broad.mit.edu 37 10 48388736 48388736 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:48388736G>A ENST00000224600.4 - 1 2255 c.2142C>T c.(2140-2142)ccC>ccT p.P714P NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 714 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGGGTGGTGGGGGTGCTTCCT 0.632000 10 31 0 0 0.000978 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156651255 156651255 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:156651255G>A ENST00000296518.7 + 10 2154 c.1945G>A c.(1945-1947)Gaa>Aaa p.E649K GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E649K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E649K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E649K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.E391K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E649K Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 649 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CTTCCCTAGTGAAATCCCCGG 0.403000 41 46 0 0 0.002852 0 0 FBXL7 23194 broad.mit.edu 37 5 15928222 15928222 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:15928222C>T ENST00000504595.1 + 3 832 c.351C>T c.(349-351)ctC>ctT p.L117L FBXL7_ENST00000329673.7_Silent_p.L105L|FBXL7_ENST00000510662.1_Silent_p.L70L NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 117 F-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 TAGACCGGCTCCCGGACCACT 0.692000 9 3 0 0 0.000978 0 0 CYP2C18 1562 broad.mit.edu 37 10 96495124 96495124 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:96495124G>A ENST00000285979.6 + 9 1595 c.1396G>A c.(1396-1398)Gat>Aat p.D466N CYP2C18_ENST00000339022.5_Missense_Mutation_p.D407N|CYP2C19_ENST00000464755.1_Intron NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TGACCCAAAGGATATTGACAT 0.498000 73 77 0 0 0.003610 0 0 RNASEL 6041 broad.mit.edu 37 1 182544605 182544605 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:182544605G>A ENST00000367559.3 - 7 2401 c.2148C>T c.(2146-2148)ttC>ttT p.F716F RNASEL_ENST00000444138.1_Silent_p.F716F NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 716 KEN. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 GGGTTTGGGGGAAATGCTTTC 0.473000 23 81 0 0 0.002780 0 0 CD163L1 283316 broad.mit.edu 37 12 7527914 7527914 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:7527914G>A ENST00000313599.3 - 11 3021 c.2964C>T c.(2962-2964)ccC>ccT p.P988P CD163L1_ENST00000416109.2_Silent_p.P998P|CD163L1_ENST00000396630.1_Silent_p.P988P Q9NR16 C163B_HUMAN CD163 molecule-like 1 988 SRCR 9. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CATGGATACAGGGAGGTGCTC 0.443000 4 23 0 0 0.001168 0 0 APOB 338 broad.mit.edu 37 2 21230565 21230565 + Missense_Mutation SNP G G A rs146377316 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:21230565G>A ENST00000233242.1 - 26 9302 c.9175C>T c.(9175-9177)Cgt>Tgt p.R3059C NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3059 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.R3059C(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AATGGAAAACGAACTTTCAAA 0.403000 123 376 0 0 0.003610 0 0 LILRB5 10990 broad.mit.edu 37 19 54760539 54760539 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:54760539C>T ENST00000450632.1 - 3 245 c.168G>A c.(166-168)gaG>gaA p.E56E LILRB5_ENST00000449561.2_Silent_p.E56E|LILRB5_ENST00000345866.6_Silent_p.E56E|LILRB5_ENST00000316219.5_Silent_p.E56E O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 56 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GACGGTACTCCTCAGTCTCCA 0.627000 34 112 0 0 0.004289 0 0 GTF3C1 2975 broad.mit.edu 37 16 27473718 27473718 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:27473718G>A ENST00000356183.4 - 36 6029 c.6014C>T c.(6013-6015)gCc>gTc p.A2005V GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1980V NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 2005 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GTACAGCATGGCCTCCATCAT 0.632000 11 5 0 0 0.000673 0 0 MYH3 4621 broad.mit.edu 37 17 10533018 10533018 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:10533018G>A ENST00000583535.1 - 40 5779 c.5692C>T c.(5692-5694)Cga>Tga p.R1898* MYH3_ENST00000226209.7_Nonsense_Mutation_p.R1898* NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1898 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TGAGCCTTTCGGAATTTGGTG 0.527000 12 35 0 0 0.001368 0 0 CYP2C9 1559 broad.mit.edu 37 10 96731861 96731861 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:96731861G>A ENST00000260682.6 + 6 832 c.819_splice c.e6-1 p.E274_splice NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 274 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TCATTCCTAGGAAAAGCACAA 0.353000 29 47 0 0 0.007291 0 0 CKMT1A 548596 broad.mit.edu 37 15 43991269 43991269 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:43991269C>T ENST00000413453.2 + 9 1760 c.1236C>T c.(1234-1236)gtC>gtT p.V412V STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Silent_p.V412V P12532 KCRU_HUMAN creatine kinase, mitochondrial 1A 412 creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity lung(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) CCACACCTGTCATCCACACCA 0.502000 46 67 0 0 0.003610 0 0 AIRE 326 broad.mit.edu 37 21 45710883 45710883 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:45710883G>A ENST00000355347.4 + 1 194 c.194G>A c.(193-195)aGa>aAa p.R65K AIRE_ENST00000329347.4_Missense_Mutation_p.R65K|AIRE_ENST00000291582.5_Intron O43918 AIRE_HUMAN autoimmune regulator 263 HSR. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) GGTACCCAGAGATGCTGCTGG 0.602000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 24 107 0 0 0.003954 0 0 SLC9A2 6549 broad.mit.edu 37 2 103317575 103317575 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:103317575G>A ENST00000233969.2 + 8 1775 c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K SLC9A2_ENST00000469286.1_3'UTR NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 545 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTTGATTCGGGAAAACCAACC 0.318000 19 32 0 0 0.006122 0 0 DUXA 503835 broad.mit.edu 37 19 57666704 57666704 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:57666704G>A ENST00000554048.2 - 5 474 c.475C>T c.(475-477)Cag>Tag p.Q159* NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 159 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) CTTTTTCTCTGGAGAAGTAAT 0.393000 19 54 0 0 0.002299 0 0 LDLR 3949 broad.mit.edu 37 19 11227540 11227540 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:11227540C>T ENST00000558518.1 + 12 1898 c.1711C>T c.(1711-1713)Ctc>Ttc p.L571F LDLR_ENST00000545707.1_Missense_Mutation_p.L444F|LDLR_ENST00000557933.1_Missense_Mutation_p.L571F|LDLR_ENST00000535915.1_Missense_Mutation_p.L530F|LDLR_ENST00000558013.1_Missense_Mutation_p.L571F|LDLR_ENST00000455727.2_Missense_Mutation_p.L403F NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 571 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) TCTAGATCTCCTCAGTGGCCG 0.577000 82 188 0 0 0.003610 0 0 TSPAN33 340348 broad.mit.edu 37 7 128802353 128802353 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:128802353C>T ENST00000289407.4 + 3 388 c.279C>T c.(277-279)ctC>ctT p.L93L NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 93 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 ACATCTGCCTCCTGCAGACGG 0.612000 7 53 0 0 0.003080 0 0 AOX1 316 broad.mit.edu 37 2 201485379 201485379 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:201485379G>A ENST00000374700.2 + 17 1952 c.1711G>A c.(1711-1713)Ggc>Agc p.G571S AOX1_ENST00000485106.1_Intron NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 571 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ACAGAATATAGGCCCAAAGCA 0.403000 7 15 0 0 0.003080 0 0 GLYATL2 219970 broad.mit.edu 37 11 58607014 58607014 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:58607014G>A ENST00000287275.1 - 2 462 c.72C>T c.(70-72)tcC>tcT p.S24S GLYATL2_ENST00000532258.1_Silent_p.S24S|GLYATL2_ENST00000533636.1_Intron NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 24 mitochondrion glycine N-acyltransferase activity p.S24>?(1) breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TTACCTTTATGGATTCAGGGA 0.438000 15 50 0 0 0.006122 0 0 SYNJ1 8867 broad.mit.edu 37 21 34004071 34004071 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:34004071G>A ENST00000382491.3 - 28 3939 c.3815C>T c.(3814-3816)cCa>cTa p.P1272L SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1358L|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1319L|SYNJ1_ENST00000357345.3_3'UTR NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1319 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 AATCTTTAATGGTGATTCTCT 0.393000 9 14 0 0 0.006214 0 0 MYL3 4634 broad.mit.edu 37 3 46904814 46904814 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:46904814G>A ENST00000395869.1 - 1 118 c.67C>T c.(67-69)Ccc>Tcc p.P23S MYL3_ENST00000292327.4_Missense_Mutation_p.P23S P08590 MYL3_HUMAN myosin, light chain 3, alkali; ventricular, skeletal, slow 23 cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle breast(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) GGAGGTGCGGGAGCTGGAGCT 0.597000 21 58 0 0 0.001882 0 0 UROC1 131669 broad.mit.edu 37 3 126229580 126229580 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:126229580G>A ENST00000290868.2 - 2 237 c.184C>T c.(184-186)Cca>Tca p.P62S UROC1_ENST00000383579.3_Missense_Mutation_p.P62S NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 62 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GCAAACTCTGGGGCCAGCAGC 0.607000 9 23 0 0 0.006214 0 0 FOXJ2 55810 broad.mit.edu 37 12 8201356 8201356 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:8201356G>A ENST00000162391.3 + 8 2434 c.1289G>A c.(1288-1290)cGg>cAg p.R430Q FOXJ2_ENST00000428177.2_Missense_Mutation_p.R430Q NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 430 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) ATGGTGAATCGGCTCAATTGG 0.428000 17 97 0 0 0.001523 0 0 EIF4G1 1981 broad.mit.edu 37 3 184035215 184035215 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:184035215C>T ENST00000342981.4 + 4 668 c.254C>T c.(253-255)tCc>tTc p.S85F EIF4G1_ENST00000352767.3_Missense_Mutation_p.S92F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S85F|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S45F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S85F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_5'UTR|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S92F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S45F|EIF4G1_ENST00000427845.1_5'UTR|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S92F NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 85 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTGCTGGATCCCAAGTAATG 0.657000 25 59 0 0 0.004656 0 0 ATP2C2 9914 broad.mit.edu 37 16 84488527 84488527 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:84488527G>A ENST00000416219.2 + 21 2173 c.2084G>A c.(2083-2085)gGg>gAg p.G695E ATP2C2_ENST00000262429.4_Missense_Mutation_p.G695E|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 695 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GGGCAGACAGGGACGGACGTC 0.562000 12 46 0 0 0.001855 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99300270 99300270 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:99300270T>C ENST00000408927.3 + 5 577 c.464T>C c.(463-465)tTg>tCg p.L155S RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L156S|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L156S|RAP1GDS1_ENST00000380158.4_Intron NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 155 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) GAGAAGCTCTTGACTGTCTTT 0.403000 T NUP98 T-ALL 33 26 0 0 0.007835 0 0 LRIT2 340745 broad.mit.edu 37 10 85984534 85984534 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:85984534G>A ENST00000372113.4 - 2 452 c.447C>T c.(445-447)ttC>ttT p.F149F LRIT2_ENST00000538192.1_Silent_p.F149F NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 149 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 GGCTGACCAAGAATTGAAGAG 0.532000 41 49 0 0 0.007835 0 0 PDZD7 79955 broad.mit.edu 37 10 102789776 102789776 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:102789776G>A ENST00000370215.3 - 2 426 c.201C>T c.(199-201)gtC>gtT p.V67V PDZD7_ENST00000470414.1_Silent_p.V67V NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 67 cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) TGATGAGGATGACGCGTCCCA 0.647000 22 64 0 0 0.003330 0 0 RGS7 6000 broad.mit.edu 37 1 241262011 241262011 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:241262011G>A ENST00000366565.1 - 3 511 c.130C>T c.(130-132)Cgt>Tgt p.R44C RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C|RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 44 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.R44S(2) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTGACCGTACGAATAGGAATT 0.358000 27 14 0 0 0.007291 0 0 DNAH2 146754 broad.mit.edu 37 17 7644283 7644283 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7644283C>T ENST00000572933.1 + 11 3122 c.1662C>T c.(1660-1662)ctC>ctT p.L554L DNAH2_ENST00000389173.2_Silent_p.L554L|DNAH2_ENST00000570791.1_Silent_p.L636L|DNAH2_ENST00000082259.3_Silent_p.L636L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 554 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGCACATCCTCCGGCGTCGCA 0.612000 40 33 0 0 0.007835 0 0 SHC4 399694 broad.mit.edu 37 15 49118249 49118249 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:49118249G>A ENST00000332408.4 - 12 2240 c.1812C>T c.(1810-1812)atC>atT p.I604I SHC4_ENST00000396535.3_Silent_p.I361I|SHC4_ENST00000537958.1_Silent_p.I318I NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 604 SH2. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) CAGAGGAGATGATTGGCAAAC 0.373000 48 56 0 0 0.003610 0 0 JAG2 3714 broad.mit.edu 37 14 105618331 105618331 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr14:105618331G>A ENST00000331782.3 - 7 1386 c.983C>T c.(982-984)cCt>cTt p.P328L JAG2_ENST00000347004.2_Missense_Mutation_p.P328L NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 328 EGF-like 3. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GTACTGGTCAGGCTCGGCGTT 0.652000 10 24 0 0 0.000673 0 0 ZNF630 57232 broad.mit.edu 37 X 47918761 47918761 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:47918761G>A ENST00000276054.4 - 5 1632 c.698C>T c.(697-699)tCc>tTc p.S233F ZNF630_ENST00000442455.3_Missense_Mutation_p.S343F|ZNF630_ENST00000409324.3_Missense_Mutation_p.S357F|ZNF630-AS1_ENST00000436124.1_RNA Q2M218 ZN630_HUMAN zinc finger protein 630 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 TGACTTCTGGGAGAAAGCTTT 0.438000 16 11 0 0 0.003163 0 0 RPH3AL 9501 broad.mit.edu 37 17 63695 63695 + Missense_Mutation SNP C C T rs142240545 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:63695C>T ENST00000323434.8 - 9 1406 c.809G>A c.(808-810)cGa>cAa p.R270Q RPH3AL_ENST00000331302.7_Missense_Mutation_p.R299Q|RPH3AL_ENST00000536489.2_Missense_Mutation_p.R270Q NM_001190412.1 NP_001177341.1 Q9UNE2 RPH3L_HUMAN rabphilin 3A-like (without C2 domains) 299 exocytosis|intracellular protein transport transport vesicle membrane cytoskeletal protein binding|Rab GTPase binding|zinc ion binding NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) AGCGGGGGCTCGTCCAGGTGT 0.622000 8 22 0 0 0.003080 0 0 CSN2 1447 broad.mit.edu 37 4 70823296 70823296 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:70823296G>A ENST00000353151.3 - 5 382 c.371C>T c.(370-372)cCc>cTc p.P124L NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 124 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 GTCAAAAAAGGGTATCGTTGG 0.478000 18 35 0 0 0.004990 0 0 SFXN2 118980 broad.mit.edu 37 10 104486897 104486897 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:104486897C>T ENST00000369893.4 + 3 482 c.315C>T c.(313-315)ttC>ttT p.F105F SFXN2_ENST00000602785.1_3'UTR NM_178858.4 NP_849189.1 Q96NB2 SFXN2_HUMAN sideroflexin 2 105 iron ion homeostasis integral to membrane cation transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1) 13 Colorectal(252;0.207) Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218) TCACGGGCTTCATGCTCCAGT 0.557000 14 43 0 0 0.003163 0 0 UTP14C 9724 broad.mit.edu 37 13 52604614 52604614 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:52604614C>T ENST00000521776.2 + 2 2407 c.1674C>T c.(1672-1674)aaC>aaT p.N558N NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 558 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) AACTGATCAACCTACAGAACT 0.502000 25 35 0 0 0.003330 0 0 LMOD3 56203 broad.mit.edu 37 3 69168514 69168514 + Missense_Mutation SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:69168514A>G ENST00000420581.2 - 2 1171 c.992T>C c.(991-993)aTg>aCg p.M331T LMOD3_ENST00000475434.1_Missense_Mutation_p.M331T|LMOD3_ENST00000489031.1_Missense_Mutation_p.M331T NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 331 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) GAGACACCTCATGATGGCCAC 0.453000 64 208 0 0 0.003610 0 0 PRB4 5545 broad.mit.edu 37 12 11461663 11461663 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:11461663C>T ENST00000279575.1 - 3 287 c.254G>A c.(253-255)gGa>gAa p.G85E PRB4_ENST00000445719.2_Missense_Mutation_p.G85E|PRB4_ENST00000535904.1_Missense_Mutation_p.G85E NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 85 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in Ref. 7; CAA30542). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 CTGGTTGCCTCCTTGTGGGGG 0.612000 HNSCC(22;0.051) 37 302 0 0 0.003610 0 0 CACNA1S 779 broad.mit.edu 37 1 201039492 201039492 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:201039492G>A ENST00000362061.3 - 17 2494 c.2268C>T c.(2266-2268)ccC>ccT p.P756P CACNA1S_ENST00000367338.3_Silent_p.P756P NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 756 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GACGTGGTCGGGGGCTCAGCG 0.582000 22 96 0 0 0.002780 0 0 ANO10 55129 broad.mit.edu 37 3 43618494 43618494 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:43618494G>A ENST00000292246.3 - 6 1022 c.852C>T c.(850-852)ccC>ccT p.P284P ANO10_ENST00000396091.3_Silent_p.P218P|ANO10_ENST00000414522.2_Silent_p.P284P|ANO10_ENST00000350459.4_Intron|ANO10_ENST00000451430.2_Silent_p.P173P NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 284 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 ATCCTGGCCGGGGCTCCTCAA 0.532000 20 38 0 0 0.001882 0 0 DOK3 79930 broad.mit.edu 37 5 176931115 176931115 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176931115G>A ENST00000501403.2 - 6 1541 c.1192C>T c.(1192-1194)Cgg>Tgg p.R398W DOK3_ENST00000357198.4_Missense_Mutation_p.R454W|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron Q7L591 DOK3_HUMAN docking protein 3 454 Pro-rich. cytoplasm|plasma membrane insulin receptor binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7) 13 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) AGCAGCCGCCGGTACTGGGCC 0.682000 18 5 0 0 0.001216 0 0 SOX30 11063 broad.mit.edu 37 5 157078476 157078476 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:157078476G>A ENST00000265007.6 - 1 952 c.611C>T c.(610-612)cCg>cTg p.P204L SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.P204L NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 204 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATGGCTGCCGGGCTTTTGCC 0.657000 27 112 0 0 0.002096 0 0 IGSF22 283284 broad.mit.edu 37 11 18735851 18735851 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:18735851C>T ENST00000513874.1 - 13 1910 c.1771G>A c.(1771-1773)Gaa>Aaa p.E591K RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 591 p.E591K(2) NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 GCTTCACTTTCCGTGCCCTTG 0.562000 27 3 0 0 0.005443 0 0 PIGL 9487 broad.mit.edu 37 17 16221109 16221109 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:16221109C>T ENST00000225609.5 + 6 564 c.547C>T c.(547-549)Cag>Tag p.Q183* PIGL_ENST00000395844.3_Missense_Mutation_p.S172L|PIGL_ENST00000581006.1_Intron NM_004278.3 NP_004269.1 Q9Y2B2 PIGL_HUMAN phosphatidylinositol glycan anchor biosynthesis, class L 183 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminylphosphatidylinositol deacetylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 11 UCEC - Uterine corpus endometrioid carcinoma (92;0.0934) GCTCACGCTTCAGTCTGTGAA 0.537000 26 55 0 0 0.007291 0 0 STOM 2040 broad.mit.edu 37 9 124110310 124110310 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:124110310G>A ENST00000286713.2 - 6 660 c.643C>T c.(643-645)Cgc>Tgc p.R215C STOM_ENST00000538954.1_Missense_Mutation_p.R164C|AL161784.1_ENST00000594963.1_Missense_Mutation_p.27_27insQ|STOM_ENST00000347359.2_Intron NM_004099.4 NP_004090.4 P27105 STOM_HUMAN stomatin 215 protein homooligomerization cytoskeleton|integral to plasma membrane|melanosome|membrane raft protein binding endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137) CGGGCCTCGCGGGACGCTTCT 0.423000 20 75 0 0 0.001882 0 0 SNX19 399979 broad.mit.edu 37 11 130785480 130785480 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:130785480G>A ENST00000265909.4 - 1 924 c.355C>T c.(355-357)Cgt>Tgt p.R119C SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R119C|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 119 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CTCACGGAACGGTACCAAGAT 0.542000 14 6 0 0 0.002450 0 0 DSC3 1825 broad.mit.edu 37 18 28574254 28574254 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:28574254G>A ENST00000360428.4 - 16 2658 c.2578C>T c.(2578-2580)Cca>Tca p.P860S DSC3_ENST00000434452.1_3'UTR NM_001941.3 NP_001932.2 Q14574 DSC3_HUMAN desmocollin 3 860 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GAACCAGCTGGAGATCCTCTT 0.388000 16 38 0 0 0.007413 0 0 SLC22A12 116085 broad.mit.edu 37 11 64366040 64366040 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:64366040G>A ENST00000377574.1 + 5 1630 c.883G>A c.(883-885)Ggc>Agc p.G295S SLC22A12_ENST00000377567.2_Missense_Mutation_p.G187S|SLC22A12_ENST00000336464.7_Missense_Mutation_p.G261S|SLC22A12_ENST00000473690.1_Missense_Mutation_p.G74S|SLC22A12_ENST00000377572.1_Missense_Mutation_p.G187S NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 295 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GCTGGATTGGGGCCTGCAGGA 0.657000 5 5 0 0 0.001168 0 0 RGS22 26166 broad.mit.edu 37 8 101076105 101076105 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:101076105C>T ENST00000360863.6 - 8 1085 c.891G>A c.(889-891)aaG>aaA p.K297K RGS22_ENST00000523287.1_Silent_p.K116K|RGS22_ENST00000523437.1_Silent_p.K285K NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 297 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CATCCTGTTTCTTTTCAAGGT 0.358000 41 42 0 0 0.007835 0 0 PDE1C 5137 broad.mit.edu 37 7 31855735 31855735 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:31855735G>A ENST00000396184.3 - 16 1820 c.1616C>T c.(1615-1617)gCt>gTt p.A539V PDE1C_ENST00000396193.1_Missense_Mutation_p.A599V|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.A539V|PDE1C_ENST00000396182.2_Missense_Mutation_p.A539V|PDE1C_ENST00000396191.1_Missense_Mutation_p.A539V NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 539 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GGCCAGGCGAGCCTTTTCCTC 0.512000 61 123 0 0 0.003610 0 0 GPRIN1 114787 broad.mit.edu 37 5 176025676 176025676 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:176025676G>A ENST00000303991.4 - 2 1337 c.1160C>T c.(1159-1161)cCt>cTt p.P387L NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 387 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCAGACACAGGACGCCCCTC 0.527000 8 62 0 0 0.006214 0 0 BCLAF1 9774 broad.mit.edu 37 6 136589383 136589383 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:136589383C>T ENST00000531224.1 - 10 2566 c.2314G>A c.(2314-2316)Gaa>Aaa p.E772K BCLAF1_ENST00000353331.4_Missense_Mutation_p.E770K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E599K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E770K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E772K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E770K|BCLAF1_ENST00000031135.9_5'UTR NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 772 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTTCTCTTTCCTTCTTACTC 0.388000 20 65 0 0 0.003954 0 0 LAMP5 24141 broad.mit.edu 37 20 9496670 9496670 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr20:9496670C>T ENST00000246070.2 + 3 753 c.261C>T c.(259-261)atC>atT p.I87I LAMP5_ENST00000427562.2_Intron NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 87 integral to membrane AGGCCGATATCGCATTGACCC 0.652000 3 3 0 0 0.000248 0 0 ZNF677 342926 broad.mit.edu 37 19 53741139 53741139 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:53741139G>A ENST00000333952.4 - 5 1006 c.841C>T c.(841-843)Cat>Tat p.H281Y ZNF677_ENST00000598513.1_Missense_Mutation_p.H281Y Q86XU0 ZN677_HUMAN zinc finger protein 677 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H281Y(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) ATTCTCTGATGATTAGTGAGG 0.398000 24 75 0 0 0.002299 0 0 FDXR 2232 broad.mit.edu 37 17 72862330 72862330 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:72862330G>A ENST00000455107.2 - 6 714 c.298C>T c.(298-300)Cct>Tct p.P100S FDXR_ENST00000581530.1_Missense_Mutation_p.P144S|FDXR_ENST00000582944.1_Missense_Mutation_p.P136S|FDXR_ENST00000293195.5_Missense_Mutation_p.P144S|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000413947.2_Missense_Mutation_p.P175S|FDXR_ENST00000420580.2_Missense_Mutation_p.P104S|FDXR_ENST00000544854.1_Missense_Mutation_p.P92S|FDXR_ENST00000583917.1_Missense_Mutation_p.P145S|FDXR_ENST00000442102.2_Missense_Mutation_p.P187S P22570 ADRO_HUMAN ferredoxin reductase 144 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) TCCTCACCAGGAATTTCCAGG 0.647000 28 37 0 0 0.002096 0 0 COL23A1 91522 broad.mit.edu 37 5 177675236 177675236 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:177675236C>T ENST00000390654.3 - 20 1526 c.1169G>A c.(1168-1170)gGg>gAg p.G390E NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 390 Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CCCCTTCTCCCCCTTGAGGCC 0.642000 55 19 0 0 0.003610 0 0 WRAP53 55135 broad.mit.edu 37 17 7604071 7604071 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:7604071C>T ENST00000316024.5 + 4 3003 c.655C>T c.(655-657)Cga>Tga p.R219* WRAP53_ENST00000431639.2_Nonsense_Mutation_p.R219*|WRAP53_ENST00000457584.2_Nonsense_Mutation_p.R219*|WRAP53_ENST00000396463.2_Nonsense_Mutation_p.R219*|WRAP53_ENST00000534050.1_Nonsense_Mutation_p.R186* Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 219 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 CCCTGTCCTTCGAATGGTGGA 0.532000 30 101 0 0 0.002836 0 0 RLTPR 146206 broad.mit.edu 37 16 67682024 67682024 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:67682024C>T ENST00000334583.6 + 14 1469 c.1141C>T c.(1141-1143)Ctg>Ttg p.L381L RLTPR_ENST00000545661.1_Silent_p.L381L NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 381 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CGACACTGCCCTGGACACTGT 0.672000 4 19 0 0 0.000602 0 0 TCF23 150921 broad.mit.edu 37 2 27373113 27373113 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:27373113G>A ENST00000296096.5 + 2 475 c.345G>A c.(343-345)ttG>ttA p.L115L NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 115 Helix-loop-helix motif. cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCCAAGTTGGACGTGCTGG 0.706000 31 56 0 0 0.002445 0 0 RPL18A 6142 broad.mit.edu 37 19 17972995 17972995 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:17972995C>T ENST00000600147.1 + 3 327 c.291C>T c.(289-291)taC>taT p.Y97Y RPL18A_ENST00000599870.1_Silent_p.Y68Y|RPL18A_ENST00000222247.5_Silent_p.Y97Y|RPL18A_ENST00000599898.1_Silent_p.Y58Y Q02543 RL18A_HUMAN ribosomal protein L18a 97 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 ACCGGGAATACCGGGACCTGA 0.612000 25 75 0 0 0.003954 0 0 NEK5 341676 broad.mit.edu 37 13 52667313 52667313 + Missense_Mutation SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:52667313T>C ENST00000355568.4 - 13 1224 c.1085A>G c.(1084-1086)tAt>tGt p.Y362C NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 362 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) AAGTTGAGCATAATAATAATC 0.378000 22 32 0 0 0.003330 0 0 LGR5 8549 broad.mit.edu 37 12 71960659 71960659 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:71960659C>T ENST00000266674.5 + 11 1348 c.1037C>T c.(1036-1038)aCc>aTc p.T346I LGR5_ENST00000536515.1_Missense_Mutation_p.T274I|LGR5_ENST00000540815.2_Missense_Mutation_p.T322I O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 346 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CTTCCTCAAACCGTCTGCAAT 0.408000 141 974 0 0 0.003610 0 0 MPP6 51678 broad.mit.edu 37 7 24705212 24705212 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:24705212C>T ENST00000396475.2 + 8 1088 c.789C>T c.(787-789)agC>agT p.S263S MPP6_ENST00000222644.4_Silent_p.S263S|MPP6_ENST00000409761.1_Silent_p.S151S NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 263 SH3. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TCTAGGCTAGCCATGTAAAAG 0.408000 31 94 0 0 0.001786 0 0 OR51S1 119692 broad.mit.edu 37 11 4869969 4869969 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:4869969G>A ENST00000322101.2 - 1 545 c.470C>T c.(469-471)tCt>tTt p.S157F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S157F(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCATCGAAAAGAAATGGCCAG 0.552000 56 15 0 0 0.003610 0 0 RP1L1 94137 broad.mit.edu 37 8 10467498 10467498 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:10467498C>T ENST00000382483.3 - 4 4333 c.4110G>A c.(4108-4110)gaG>gaA p.E1370E NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1370 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ACTGCACCCCCTCTTCTTGCA 0.478000 75 28 0 0 0.003610 0 0 SETBP1 26040 broad.mit.edu 37 18 42281537 42281537 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:42281537G>A ENST00000282030.5 + 2 522 c.226G>A c.(226-228)Gac>Aac p.D76N SETBP1_ENST00000426838.4_Missense_Mutation_p.D76N NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 76 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CTCCAACGCGGACAGTGAGAA 0.547000 Schinzel-Giedion syndrome 39 34 0 0 0.001951 0 0 TBX18 9096 broad.mit.edu 37 6 85446677 85446677 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:85446677G>A ENST00000369663.5 - 8 1887 c.1550C>T c.(1549-1551)tCc>tTc p.S517F TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 517 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.S517F(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) AGTATTATAGGAACCCTGATG 0.478000 37 68 0 0 0.007835 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785507 1785507 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:1785507G>A ENST00000539485.1 - 26 3617 c.3384C>T c.(3382-3384)gtC>gtT p.V1128V ATP8B3_ENST00000525591.1_Silent_p.V1081V|ATP8B3_ENST00000310127.6_Silent_p.V1118V O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1118 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCCACCACGACCGCAAAGG 0.632000 19 10 0 0 0.001882 0 0 HPS5 11234 broad.mit.edu 37 11 18303642 18303642 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:18303642C>T ENST00000396253.3 - 21 3304 c.2842G>A c.(2842-2844)Gtg>Atg p.V948M HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.V948M|HPS5_ENST00000537258.1_Missense_Mutation_p.V169M|HPS5_ENST00000349215.3_Missense_Mutation_p.V1062M NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 1062 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 ACATTCTCCACATTGATGGGG 0.542000 Hermansky-Pudlak syndrome 42 12 0 0 0.002222 0 0 ZFHX4 79776 broad.mit.edu 37 8 77690488 77690488 + Nonsense_Mutation SNP T T A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:77690488T>A ENST00000521891.2 + 4 3586 c.3138T>A c.(3136-3138)taT>taA p.Y1046* ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Y1020*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Y1020*|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Y1020* NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1020 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AATCCTGCTATTACTACTGTG 0.493000 HNSCC(33;0.089) 52 42 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179577252 179577252 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:179577252C>T ENST00000589042.1 - 95 27621 c.27397G>A c.(27397-27399)Ggt>Agt p.G9133S TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G8816S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7889S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8816 Ig-like 74. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGAATGTACCCTCTAGGATC 0.388000 6 15 0 0 0.001168 0 0 NDC80 10403 broad.mit.edu 37 18 2590052 2590052 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr18:2590052C>T ENST00000261597.4 + 10 1088 c.906C>T c.(904-906)tcC>tcT p.S302S NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 302 Interaction with NEK2 and ZWINT.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 TGAAGGCTTCCTTACAAGGAG 0.323000 9 17 0 0 0.006214 0 0 ZNF99 7652 broad.mit.edu 37 19 22939917 22939917 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:22939917C>T ENST00000397104.3 - 6 2413 c.2414G>A c.(2413-2415)gGa>gAa p.G805E zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCCACATTCTCCACATTTGTA 0.383000 23 54 0 0 0.003954 0 0 EVPL 2125 broad.mit.edu 37 17 74015058 74015058 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:74015058C>T ENST00000301607.3 - 11 1474 c.1221G>A c.(1219-1221)caG>caA p.Q407Q EVPL_ENST00000586740.1_Silent_p.Q407Q NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 407 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGTTTCTTCGCTGTGGCAGAG 0.682000 7 15 0 0 0.004482 0 0 TRANK1 9881 broad.mit.edu 37 3 36873271 36873271 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:36873271C>T ENST00000301807.6 - 21 7918 c.6021G>A c.(6019-6021)atG>atA p.M2007I TRANK1_ENST00000428977.2_Missense_Mutation_p.M2007I|TRANK1_ENST00000429976.2_Missense_Mutation_p.M2557I NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2557 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CAGGGCAGTCCATGCTCATGA 0.577000 17 47 0 0 0.007413 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806465 97806465 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:97806465C>T ENST00000358642.2 + 1 449 c.449C>T c.(448-450)tCa>tTa p.S150L NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 CTAAGTATTTCATATGTAATT 0.388000 38 120 0 0 0.007835 0 0 ZNF462 58499 broad.mit.edu 37 9 109689644 109689644 + Missense_Mutation SNP C C T rs149174145 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:109689644C>T ENST00000277225.5 + 3 3740 c.3451C>T c.(3451-3453)Cct>Tct p.P1151S ZNF462_ENST00000457913.1_Missense_Mutation_p.P1151S Q96JM2 ZN462_HUMAN zinc finger protein 462 1151 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CAGACAGGCTCCTCCCACAGC 0.547000 30 41 0 0 0.001786 0 0 ABCA12 26154 broad.mit.edu 37 2 215820086 215820086 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:215820086C>T ENST00000272895.7 - 43 6453 c.e43-1 ABCA12_ENST00000389661.4_Splice_Site|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGTTGCATACCTGCAGGTTAA 0.458000 4 15 0 0 0.000602 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37482170 37482170 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:37482170G>A ENST00000374660.1 + 33 2886 c.2787G>A c.(2785-2787)atG>atA p.M929I ANKRD30A_ENST00000602533.1_Missense_Mutation_p.M810I|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.M810I Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 984 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TGATGGACATGCAAACTTTCA 0.294000 11 38 0 0 0.001368 0 0 DZIP1L 199221 broad.mit.edu 37 3 137790621 137790621 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:137790621G>A ENST00000327532.2 - 12 1841 c.1479C>T c.(1477-1479)gtC>gtT p.V493V DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Silent_p.V493V NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 493 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 GCTCCCGCTGGACTCTCAGCA 0.517000 74 160 0 0 0.003610 0 0 MS4A6A 64231 broad.mit.edu 37 11 59947394 59947394 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:59947394G>A ENST00000528851.1 - 3 332 c.192C>T c.(190-192)atC>atT p.I64I MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000412309.2_Silent_p.I92I|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000532169.1_Silent_p.I64I|MS4A6A_ENST00000420732.2_Silent_p.I64I|MS4A6A_ENST00000323961.3_Silent_p.I64I|MS4A6A_ENST00000530839.1_Silent_p.I64I|MS4A6A_ENST00000529054.1_Silent_p.I92I|MS4A6A_ENST00000426738.2_Intron Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 64 integral to membrane receptor activity endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATGCCAAAATGATCCCCAAGC 0.433000 4 20 0 0 0.000602 0 0 NTRK1 4914 broad.mit.edu 37 1 156848978 156848978 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:156848978C>T ENST00000368196.3 + 14 1972 c.1852C>T c.(1852-1854)Ctg>Ttg p.L618L NTRK1_ENST00000524377.1_Silent_p.L624L|NTRK1_ENST00000392302.2_Silent_p.L588L|NTRK1_ENST00000358660.3_Silent_p.L621L NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 624 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CCCCCTGGGTCTGGGGCAGCT 0.637000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 24 8 0 0 0.003330 0 0 MUC16 94025 broad.mit.edu 37 19 9072091 9072091 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9072091G>A ENST00000397910.4 - 3 15558 c.15355C>T c.(15355-15357)Cct>Tct p.P5119S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5121 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTATAGAAGGAAAAATTTCC 0.453000 46 32 0 0 0.002222 0 0 ZNF445 353274 broad.mit.edu 37 3 44488420 44488420 + Nonsense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:44488420G>A ENST00000425708.2 - 7 3084 c.2743C>T c.(2743-2745)Cag>Tag p.Q915* ZNF445_ENST00000396077.2_Nonsense_Mutation_p.Q915* P59923 ZN445_HUMAN zinc finger protein 445 915 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) TGTTTCCTCTGGTGACTGGAA 0.493000 42 30 0 0 0.003214 0 0 IQCH 64799 broad.mit.edu 37 15 67571772 67571772 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:67571772C>T ENST00000335894.4 + 4 375 c.309C>T c.(307-309)ttC>ttT p.F103F IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Silent_p.F103F NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 103 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CATTTATTTTCCCTCAGGAAT 0.343000 9 48 0 0 0.000673 0 0 OR1L8 138881 broad.mit.edu 37 9 125330481 125330481 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:125330481G>A ENST00000304865.2 - 1 357 c.276C>T c.(274-276)acC>acT p.T92T NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CATAGGAGATGGTCTTCTTTT 0.453000 26 47 0 0 0.006320 0 0 INPP4A 3631 broad.mit.edu 37 2 99155368 99155368 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:99155368C>T ENST00000074304.5 + 9 987 c.594C>T c.(592-594)gtC>gtT p.V198V INPP4A_ENST00000545415.1_Silent_p.V198V|INPP4A_ENST00000409540.3_Silent_p.V198V|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Silent_p.V198V|INPP4A_ENST00000409016.3_Silent_p.V198V|INPP4A_ENST00000523221.1_Silent_p.V198V NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 198 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 TTCTTCCTGTCGATGAGAGCT 0.428000 5 15 0 0 0.003080 0 0 NACA 4666 broad.mit.edu 37 12 57113260 57113260 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:57113260G>A ENST00000454682.1 - 3 2335 c.2054C>T c.(2053-2055)cCt>cTt p.P685L NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GTGGTTTTTAGGAGCTAAAGA 0.493000 T BCL6 NHL 13 101 0 0 0.001368 0 0 UNG 7374 broad.mit.edu 37 12 109537051 109537051 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:109537051C>T ENST00000336865.2 + 2 579 c.370C>T c.(370-372)Caa>Taa p.Q124* UNG_ENST00000242576.2_Nonsense_Mutation_p.Q133* NM_003362.3 NP_003353.1 P13051 UNG_HUMAN uracil-DNA glycosylase 133 base-excision repair|interspecies interaction between organisms mitochondrion|nucleus protein binding|uracil DNA N-glycosylase activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 ACCCCCACACCAAGTCTTCAC 0.343000 Base excision repair (BER), DNA glycosylases Immune Deficiency with Hyper-IgM 20 17 0 0 0.001216 0 0 LHFP 10186 broad.mit.edu 37 13 40175210 40175210 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr13:40175210C>T ENST00000379589.3 - 2 606 c.144G>A c.(142-144)cgG>cgA p.R48R NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 48 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) ATGAGCACCTCCGGAAGGTAC 0.562000 T HMGA2 lipoma 29 95 0 0 0.003755 0 0 RAB40C 57799 broad.mit.edu 37 16 675979 675979 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:675979C>T ENST00000535977.1 + 6 645 c.423C>T c.(421-423)gcC>gcT p.A141A RAB40C_ENST00000248139.3_Silent_p.A141A|RAB40C_ENST00000538492.1_Silent_p.A141A|RAB40C_ENST00000539661.1_Silent_p.A141A NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 141 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CGGAGCAGGCCCGCGCGTACG 0.622000 10 24 0 0 0.000673 0 0 ATP13A5 344905 broad.mit.edu 37 3 193042758 193042758 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:193042758C>T ENST00000342358.4 - 14 1686 c.1569G>A c.(1567-1569)tgG>tgA p.W523* NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 523 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ACAGTGGGCTCCATGGCACAG 0.522000 36 67 0 0 0.002836 0 0 ABCF1 23 broad.mit.edu 37 6 30546139 30546139 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:30546139C>T ENST00000326195.8 + 5 470 c.358C>T c.(358-360)Ccc>Tcc p.P120S ABCF1_ENST00000376545.3_Missense_Mutation_p.P120S|ABCF1_ENST00000396515.4_Intron NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 120 inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 CGCCCCAAAACCCCGCGGAGG 0.493000 12 70 0 0 0.003163 0 0 ACE 1636 broad.mit.edu 37 17 61571337 61571337 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:61571337C>T ENST00000577647.1 + 10 1514 c.1469C>T c.(1468-1470)cCc>cTc p.P490L ACE_ENST00000428043.1_Missense_Mutation_p.P1064L|ACE_ENST00000413513.3_Missense_Mutation_p.P490L|ACE_ENST00000290863.6_Missense_Mutation_p.P490L|ACE_ENST00000290866.4_Missense_Mutation_p.P1064L|ACE_ENST00000421982.2_Missense_Mutation_p.P310L|ACE_ENST00000490216.2_Missense_Mutation_p.P490L P12821 ACE_HUMAN angiotensin I converting enzyme 1064 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GCCTTTATCCCCTTCAGCTAC 0.542000 11 61 0 0 0.001368 0 0 PAN2 9924 broad.mit.edu 37 12 56722378 56722378 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:56722378G>A ENST00000425394.2 - 3 706 c.330C>T c.(328-330)tcC>tcT p.S110S PAN2_ENST00000548043.1_Silent_p.S110S|PAN2_ENST00000440411.3_Silent_p.S110S|PAN2_ENST00000257931.5_Silent_p.S110S NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 110 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGACTTGAAAGGATGAGTAGC 0.507000 10 164 0 0 0.001368 0 0 CLDN4 1364 broad.mit.edu 37 7 73245539 73245539 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:73245539C>T ENST00000435050.1 + 2 2688 c.8C>T c.(7-9)tCc>tTc p.S3F CLDN4_ENST00000431918.1_Missense_Mutation_p.S3F|CLDN4_ENST00000340958.2_Missense_Mutation_p.S3F O14493 CLD4_HUMAN claudin 4 3 calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) ACAATGGCCTCCATGGGGCTA 0.657000 63 31 0 0 0.003610 0 0 SPAG16 79582 broad.mit.edu 37 2 214878736 214878736 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:214878736C>T ENST00000331683.5 + 13 1557 c.1462C>T c.(1462-1464)Cct>Tct p.P488S SPAG16_ENST00000374309.3_Missense_Mutation_p.P394S NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 488 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TGAGTTTTTTCCTTTCTCCAA 0.363000 32 44 0 0 0.002836 0 0 SLC9A9 285195 broad.mit.edu 37 3 142985652 142985652 + Silent SNP T T C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:142985652T>C ENST00000316549.6 - 16 2038 c.1830A>G c.(1828-1830)aaA>aaG p.K610K NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 610 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 GGGGTGAAGCTTTCTGGTCCA 0.512000 46 53 0 0 0.003610 0 0 CTSE 1510 broad.mit.edu 37 1 206325396 206325396 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:206325396G>A ENST00000361052.3 + 5 754 c.636G>A c.(634-636)caG>caA p.Q212Q CTSE_ENST00000432969.2_Silent_p.Q132Q|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000360218.2_Silent_p.Q207Q|CTSE_ENST00000358184.2_Silent_p.Q207Q P14091 CATE_HUMAN cathepsin E 212 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) TGATGGCTCAGAACCTGGTGG 0.483000 37 18 0 0 0.006230 0 0 TANC2 26115 broad.mit.edu 37 17 61497945 61497945 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:61497945C>T ENST00000424789.2 + 25 4606 c.4602C>T c.(4600-4602)tcC>tcT p.S1534S TANC2_ENST00000389520.4_Silent_p.S1544S|RP11-269G24.3_ENST00000583552.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1534 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CTCCCCCTTCCCCTCTCCGGA 0.597000 8 19 0 0 0.003080 0 0 CCL21 6366 broad.mit.edu 37 9 34710039 34710039 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr9:34710039G>A ENST00000259607.2 - 1 82 c.25C>T c.(25-27)Ctc>Ttc p.L9F CCL21_ENST00000378792.1_Missense_Mutation_p.L9F NM_002989.2 NP_002980.1 O00585 CCL21_HUMAN chemokine (C-C motif) ligand 21 9 activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation extracellular space CCR7 chemokine receptor binding|chemokine activity large_intestine(4) 4 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) AGGATAAGGAGGCTCAGAGCC 0.607000 6 4 0 0 0.001984 0 0 AHNAK 79026 broad.mit.edu 37 11 62291528 62291528 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr11:62291528G>A ENST00000378024.4 - 5 10635 c.10361C>T c.(10360-10362)cCa>cTa p.P3454L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3454 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATTGACTTCTGGTGCCTTAAT 0.413000 19 85 0 0 0.001216 0 0 FAM179A 165186 broad.mit.edu 37 2 29222229 29222229 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:29222229C>T ENST00000379558.4 + 4 673 c.322C>T c.(322-324)Cct>Tct p.P108S FAM179A_ENST00000403861.2_Missense_Mutation_p.P108S NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 108 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GGTGCTCCTCCCTTCTCCGGA 0.607000 3 13 0 0 0.004672 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553298 140553298 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:140553298C>T ENST00000231137.3 + 1 1056 c.882C>T c.(880-882)atC>atT p.I294I NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 294 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTTTCAAATCAATCCAACAT 0.423000 15 79 0 0 0.002450 0 0 ECE1 1889 broad.mit.edu 37 1 21560127 21560127 + Missense_Mutation SNP C C T rs66535909 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:21560127C>T ENST00000415912.2 - 14 1671 c.1546G>A c.(1546-1548)Gaa>Aaa p.E516K ECE1_ENST00000264205.6_Missense_Mutation_p.E529K|ECE1_ENST00000374893.6_Missense_Mutation_p.E532K|ECE1_ENST00000357071.4_Missense_Mutation_p.E520K|ECE1_ENST00000436918.2_Missense_Mutation_p.E532K NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 532 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) ATGGCATTTTCAAAGTAGAGG 0.527000 24 30 0 0 0.003954 0 0 FAM90A1 55138 broad.mit.edu 37 12 8376722 8376722 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:8376722C>T ENST00000538603.1 - 5 771 c.213G>A c.(211-213)ccG>ccA p.P71P FAM90A1_ENST00000307435.6_Silent_p.P71P NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 71 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) CCCCAAAGTTCGGTGGAACCA 0.552000 10 79 0 0 0.006214 0 0 ZIC1 7545 broad.mit.edu 37 3 147131198 147131198 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:147131198G>A ENST00000282928.4 + 3 1933 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 402 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CTCTGGCTACGAATCCTCCAC 0.612000 43 41 0 0 0.003610 0 0 MSLN 10232 broad.mit.edu 37 16 814721 814721 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:814721C>T ENST00000566549.1 + 6 792 c.375C>T c.(373-375)ttC>ttT p.F125F MSLN_ENST00000563941.1_Silent_p.F125F|MSLN_ENST00000382862.3_Silent_p.F125F|MSLN_ENST00000545450.2_Silent_p.F125F Q13421 MSLN_HUMAN mesothelin 125 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) TGCTGCTATTCCTCAAGTAGG 0.692000 24 71 0 0 0.003330 0 0 TMC7 79905 broad.mit.edu 37 16 19049269 19049269 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:19049269C>T ENST00000421369.3 + 8 1307 c.749C>T c.(748-750)tCt>tTt p.S250F TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.S360F|TMC7_ENST00000304381.5_Missense_Mutation_p.S360F NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 360 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CGCATTTACTCTTTGAGACTG 0.393000 18 60 0 0 0.001216 0 0 ZNF34 80778 broad.mit.edu 37 8 145999287 145999287 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:145999287G>A ENST00000429371.2 - 6 1137 c.984C>T c.(982-984)tcC>tcT p.S328S ZNF34_ENST00000343459.4_Silent_p.S349S NM_030580.3 NP_085057.3 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) GATAAATCAGGGAAGAGTAGG 0.512000 11 25 0 0 0.000673 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815015 106815015 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:106815015G>A ENST00000407775.2 + 8 2955 c.2705G>A c.(2704-2706)cGa>cAa p.R902Q ZFPM2_ENST00000517361.1_Missense_Mutation_p.R770Q|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R770Q|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R633Q|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 902 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GAAAGCGAACGAAACAGCCCT 0.458000 7 13 0 0 0.003080 0 0 MMP16 4325 broad.mit.edu 37 8 89086840 89086840 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr8:89086840G>A ENST00000286614.6 - 7 1496 c.1215C>T c.(1213-1215)ttC>ttT p.F405F MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 405 Hemopexin-like 2. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TACCTTTAAAGAACACAAAAT 0.393000 18 24 0 0 0.001882 0 0 MYBPC1 4604 broad.mit.edu 37 12 102069125 102069125 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:102069125C>T ENST00000549145.1 + 26 2983 c.2883C>T c.(2881-2883)gtC>gtT p.V961V MYBPC1_ENST00000545503.2_Silent_p.V930V|MYBPC1_ENST00000541119.1_Silent_p.V918V|MYBPC1_ENST00000536007.1_Silent_p.V911V|MYBPC1_ENST00000452455.2_Silent_p.V948V|MYBPC1_ENST00000441232.1_Silent_p.V948V|MYBPC1_ENST00000392934.3_Silent_p.V917V|MYBPC1_ENST00000361466.2_Silent_p.V955V|MYBPC1_ENST00000361685.2_Silent_p.V955V|MYBPC1_ENST00000360610.2_Silent_p.V948V|MYBPC1_ENST00000547405.1_Silent_p.V904V|MYBPC1_ENST00000553190.1_Silent_p.V930V|MYBPC1_ENST00000547509.1_Silent_p.V916V|MYBPC1_ENST00000551300.1_Silent_p.V831V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.V948V Q00872 MYPC1_HUMAN myosin binding protein C, slow type 948 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 GAGAAAATGTCGCTCTCACAT 0.478000 15 11 0 0 0.006122 0 0 MORF4L1 10933 broad.mit.edu 37 15 79186534 79186534 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:79186534C>T ENST00000331268.5 + 11 1085 c.881C>T c.(880-882)tCc>tTc p.S294F MORF4L1_ENST00000379535.4_Missense_Mutation_p.S280F|MORF4L1_ENST00000558502.1_Missense_Mutation_p.S167F|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000426013.2_Missense_Mutation_p.S255F|MORF4L1_ENST00000558746.1_Missense_Mutation_p.S228F|MORF4L1_ENST00000559345.1_Missense_Mutation_p.S167F NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 294 Sufficient for interaction with PHF12. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 GCACCCATGTCCCAGGTGTAT 0.393000 64 84 0 0 0.003610 0 0 TTC7A 57217 broad.mit.edu 37 2 47288087 47288087 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:47288087G>A ENST00000319190.5 + 19 2700 c.2332G>A c.(2332-2334)Ggc>Agc p.G778S TTC7A_ENST00000394850.2_Missense_Mutation_p.G802S|TTC7A_ENST00000409245.1_Missense_Mutation_p.G744S|TTC7A_ENST00000263737.6_Missense_Mutation_p.G424S NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 778 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GAACCCAGATGGCGTGCGCAT 0.627000 4 14 0 0 0.000248 0 0 DNAH1 25981 broad.mit.edu 37 3 52394378 52394378 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:52394378C>T ENST00000420323.2 + 28 4884 c.4623C>T c.(4621-4623)ttC>ttT p.F1541F NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1541 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATGCTGAGTTCATCTATGGCT 0.567000 19 19 0 0 0.002299 0 0 ASMTL 8623 broad.mit.edu 37 X 1551204 1551204 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chrX:1551204G>A ENST00000534940.1 - 6 518 c.293C>T c.(292-294)tCc>tTc p.S98F ASMTL_ENST00000381317.3_Missense_Mutation_p.S156F|ASMTL_ENST00000416733.2_Missense_Mutation_p.S80F|ASMTL_ENST00000381333.4_Missense_Mutation_p.S140F|ASMTL_ENST00000463763.1_5'UTR NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 156 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGCTCCTCGGACAGCTCCGA 0.637000 14 3 0 0 0.004007 0 0 KCNA6 3742 broad.mit.edu 37 12 4920740 4920740 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:4920740C>T ENST00000433855.1 + 1 2399 c.1533C>T c.(1531-1533)agC>agT p.S511S KCNA6_ENST00000280684.3_Silent_p.S511S NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 511 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GGAGACCCAGCTACCTTCCTA 0.612000 HNSCC(72;0.22) 29 15 0 0 0.007291 0 0 LOC442028 442028 broad.mit.edu 37 2 95601090 95601090 + RNA SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:95601090C>T ENST00000568768.1 - 0 157 CTTCAAGACTCTCTTGTAAAT 0.353000 14 13 0 0 0.003163 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274311 39274311 + Missense_Mutation SNP T T C rs425755 by1000genomes TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr17:39274311T>C ENST00000391413.2 - 1 295 c.257A>G c.(256-258)aAg>aGg p.K86R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 86 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.K86R(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCTTGCAGCAGCT 0.657000 4 46 0 0 0.001168 0 0 UNC13C 440279 broad.mit.edu 37 15 54307230 54307230 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr15:54307230G>A ENST00000545554.1 + 1 2130 c.2130G>A c.(2128-2130)gaG>gaA p.E710E UNC13C_ENST00000260323.11_Silent_p.E710E|UNC13C_ENST00000537900.1_Silent_p.E710E Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 710 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATGACTCAGAGAGCTACGACT 0.413000 17 20 0 0 0.004990 0 0 NES 10763 broad.mit.edu 37 1 156640912 156640912 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr1:156640912C>T ENST00000368223.3 - 4 3200 c.3068G>A c.(3067-3069)aGa>aAa p.R1023K NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1023 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AACCAGGCCTCTCTGCTCTTT 0.657000 186 75 0 0 0.003610 0 0 REP15 387849 broad.mit.edu 37 12 27849697 27849697 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:27849697C>T ENST00000310791.2 + 1 270 c.202C>T c.(202-204)Caa>Taa p.Q68* RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA NM_001029874.1 NP_001025045.1 Q6BDI9 REP15_HUMAN RAB15 effector protein 68 early endosome membrane breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1) 9 Lung SC(9;0.0873) CACTTTCTGCCAAGAAAAGGG 0.453000 21 31 0 0 0.002299 0 0 ERLEC1 27248 broad.mit.edu 37 2 54042070 54042070 + Frame_Shift_Del DEL G G - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:54042070delG ENST00000185150.4 + 13 1509 c.1378delG c.(1378-1380)ggfs p.G460fs GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000405123.3_Frame_Shift_Del_p.G434fs|ERLEC1_ENST00000378239.5_Frame_Shift_Del_p.G406fs|ASB3_ENST00000498475.2_Intron NM_015701.4 NP_056516.2 Q96DZ1 ERLEC_HUMAN endoplasmic reticulum lectin 1 460 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 ATATATTCTTGGGGTAAGTTA 0.299 24 34 --- --- --- --- DPP10 57628 broad.mit.edu 37 2 116066879 116066879 + Frame_Shift_Del DEL T T - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:116066879delT ENST00000410059.1 + 2 605 c.125delT c.(124-126)atfs p.I42fs DPP10_ENST00000393147.2_Frame_Shift_Del_p.I46fs|DPP10_ENST00000310323.8_Frame_Shift_Del_p.I35fs|DPP10_ENST00000409163.1_5'UTR NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 42 Mediates effects on KCND2. proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CTGCTGGTGATTTTAGTTGTA 0.393 34 36 --- --- --- --- KIF1A 547 broad.mit.edu 37 2 241700192 241700193 + Frame_Shift_Ins INS - - G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr2:241700192_241700193insG ENST00000498729.2 - 25 2579_2580 c.2333_2334insC c.(2332-2334)cgafs p.R778fs KIF1A_ENST00000320389.7_Frame_Shift_Ins_p.R769fs NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 769 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TGGCGGCCTCTGGGGGCAGCAG 0.634 4 9 --- --- --- --- DHX30 22907 broad.mit.edu 37 3 47884677 47884677 + Frame_Shift_Del DEL G G - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:47884677delG ENST00000446256.2 + 10 1326 c.754delG c.(754-756)ttfs p.V252fs DHX30_ENST00000457607.1_Frame_Shift_Del_p.V319fs|DHX30_ENST00000348968.4_Frame_Shift_Del_p.V263fs|DHX30_ENST00000445061.1_Frame_Shift_Del_p.V291fs NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 291 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CATGACCTTTGTTGCCAAAGG 0.562 25 58 --- --- --- --- ABHD6 57406 broad.mit.edu 37 3 58256707 58256707 + Frame_Shift_Del DEL A A - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr3:58256707delA ENST00000478253.1 + 6 940 c.439delA c.(439-441)ccfs p.T147fs ABHD6_ENST00000295962.4_Frame_Shift_Del_p.T147fs Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 147 integral to membrane acylglycerol lipase activity NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) CCTGGTAGGCACCTCCATGGG 0.502 34 37 --- --- --- --- GPR125 166647 broad.mit.edu 37 4 22389418 22389418 + Frame_Shift_Del DEL A A - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:22389418delA ENST00000334304.5 - 19 4145 c.3876delT c.(3874-3876)atfs p.I1292fs GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1292 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CATTGCTTTTAATTGGTCCAT 0.448 30 29 --- --- --- --- RNF175 285533 broad.mit.edu 37 4 154649461 154649461 + Frame_Shift_Del DEL A A - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr4:154649461delA ENST00000347063.4 - 4 671 c.299delT c.(298-300)tafs p.L100fs RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron NM_173662.2 NP_775933.1 Q8N4F7 RN175_HUMAN ring finger protein 175 100 integral to membrane zinc ion binding breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 13 all_hematologic(180;0.093) Renal(120;0.118) CCACCAGTATAATTTTATCGT 0.458 64 60 --- --- --- --- ERAP2 64167 broad.mit.edu 37 5 96225054 96225055 + Frame_Shift_Ins INS - - C TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:96225054_96225055insC ENST00000510309.1 + 4 1137_1138 c.1015_1016insC c.(1015-1017)ttgfs p.L339fs ERAP2_ENST00000379904.4_Intron|ERAP2_ENST00000437043.3_Intron|CTD-2260A17.2_ENST00000501338.1_Intron Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 0 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) TGCTCATAAAACTTGCTTTGAT 0.332 18 77 --- --- --- --- PGGT1B 5229 broad.mit.edu 37 5 114548115 114548125 + Frame_Shift_Del DEL ACATTCTCTGA ACATTCTCTGA - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr5:114548115_114548125delACATTCTCTGA ENST00000419445.1 - 9 1128_1138 c.1108_1118delTCAGAGAATGT c.(1108-1119)afs p.SENV370fs PGGT1B_ENST00000379615.3_Frame_Shift_Del_p.SENV293fs NM_005023.3 NP_005014.2 P53609 PGTB1_HUMAN protein geranylgeranyltransferase type I, beta subunit 370 protein geranylgeranylation CAAX-protein geranylgeranyltransferase complex CAAX-protein geranylgeranyltransferase activity breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) Pravastatin(DB00175) GGAGATATGTACATTCTCTGAGCATTGTTTA 0.412 33 86 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 7 4 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97736519 97736521 + In_Frame_Del DEL GCT GCT - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr7:97736519_97736521delGCT ENST00000297293.5 + 1 323_325 c.30_32delGCT c.(28-33)agg>ag p.RL10del NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 10 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TGCGGCGGAGGCTGCTGCTGCTG 0.764 2 4 --- --- --- --- GBF1 8729 broad.mit.edu 37 10 104126880 104126881 + Frame_Shift_Ins INS - - T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr10:104126880_104126881insT ENST00000369983.3 + 20 2729_2730 c.2469_2470insT c.(2467-2472)tgtttcfs p.CF823fs NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 823 SEC7. COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding p.S825fs*25(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GCGATGCCTGCTTTTCCCTGGC 0.485 76 63 --- --- --- --- EIF2S3L 0 broad.mit.edu 37 12 10658943 10658943 + Frame_Shift_Del DEL G G - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:10658943delG ENST00000322446.3 + 1 743 c.442delG c.(442-444)gtfs p.G148fs EIF2S3L_ENST00000538173.1_Frame_Shift_Del_p.G148fs lung(8) 8 TATGCTGAACGGTGCAGCAGT 0.458 45 25 --- --- --- --- LRRK2 120892 broad.mit.edu 37 12 40668769 40668769 + Frame_Shift_Del DEL A A - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:40668769delA ENST00000298910.7 + 16 1973 c.1915delA c.(1915-1917)agfs p.K639fs LRRK2_ENST00000343742.2_Frame_Shift_Del_p.K639fs NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 639 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATACCGATTTAAGGATGTTGC 0.368 15 40 --- --- --- --- OTOGL 283310 broad.mit.edu 37 12 80747264 80747264 + Frame_Shift_Del DEL C C - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr12:80747264delC ENST00000458043.2 + 45 5546 c.5540delC c.(5539-5541)gcfs p.A1847fs OTOGL_ENST00000547103.1_Frame_Shift_Del_p.A1835fs NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CCACATTCAGCCCAGTGCATT 0.408 7 5 --- --- --- --- ITGAX 3687 broad.mit.edu 37 16 31388365 31388365 + Frame_Shift_Del DEL G G - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr16:31388365delG ENST00000268296.4 + 22 2791 c.2670delG c.(2668-2670)ctfs p.L890fs ITGAX_ENST00000562522.1_Frame_Shift_Del_p.L890fs NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 890 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 AGGCTGTCCTGGGAGACCGGC 0.602 24 64 --- --- --- --- STXBP2 6813 broad.mit.edu 37 19 7705879 7705879 + Frame_Shift_Del DEL A A - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:7705879delA ENST00000441779.2 + 6 489 c.452delA c.(451-453)tcfs p.Y151fs STXBP2_ENST00000221283.5_Frame_Shift_Del_p.Y140fs|STXBP2_ENST00000414284.2_Frame_Shift_Del_p.Y137fs|CTD-3214H19.4_ENST00000595866.1_3'UTR NM_001272034.1 NP_001258963.1 Q15833 STXB2_HUMAN syntaxin binding protein 2 140 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 23 TTCCTCCCCTACGAGGCCCAG 0.627 17 52 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9362720 9362721 + Frame_Shift_Ins INS - - T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:9362720_9362721insT ENST00000456448.1 + 1 1115_1116 c.1001_1002insT c.(1000-1002)cttfs p.L334fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 334 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 CATCTCCATCCTTTTTGTTATA 0.441 23 15 --- --- --- --- EPS8L1 54869 broad.mit.edu 37 19 55597515 55597515 + Frame_Shift_Del DEL C C - TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr19:55597515delC ENST00000201647.6 + 16 1661 c.1605delC c.(1603-1605)tafs p.Y535fs EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Frame_Shift_Del_p.Y408fs|EPS8L1_ENST00000588359.1_Frame_Shift_Del_p.Y221fs|EPS8L1_ENST00000540810.1_Frame_Shift_Del_p.Y471fs NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 535 Pro-rich.|SH3. cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) TGACACCCTACCCCGGACCCC 0.632 12 92 --- --- --- --- MIR3648-1 100500862 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b733112-76b6-455c-b41e-345acccb10de 3ee595d3-1187-4455-9715-b86e0e8e71a2 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 3 4 --- --- --- ---