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 RGS4 5999 broad.mit.edu 37 1 163043410 163043410 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:163043410G>A ENST00000421743.2 + 5 827 c.667G>A c.(667-669)Gag>Aag p.E223K RGS4_ENST00000367906.3_Missense_Mutation_p.E108K|RGS4_ENST00000527809.1_Missense_Mutation_p.E108K|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367909.6_Missense_Mutation_p.E126K|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_Intron NM_001102445.2|NM_001113380.1 NP_001095915.1|NP_001106851.1 P49798 RGS4_HUMAN regulator of G-protein signaling 4 126 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 GGCAACCAAAGAGGTAGGttt 0.343000 6 10 0 0 0.00198382 0 0 MYO18B 84700 broad.mit.edu 37 22 26422879 26422879 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:26422879C>T ENST00000335473.7 + 43 7189 c.6939C>T c.(6937-6939)atC>atT p.I2313I MYO18B_ENST00000536101.1_Silent_p.I2313I|MYO18B_ENST00000407587.2_Silent_p.I2314I NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2313 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 CCCTGGAAATCGAAGGGGCCG 0.592000 8 16 0 0 0.000274275 0 0 BEND2 139105 broad.mit.edu 37 X 18238860 18238860 + Missense_Mutation SNP C C G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:18238860C>G ENST00000380033.4 - 1 143 c.11G>C c.(10-12)aGg>aCg p.R4T BEND2_ENST00000380030.3_Missense_Mutation_p.R4T NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 4 p.R4M(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 TTCCTGGGTCCTCTCTGACAT 0.612000 20 52 0 0 0.00047179 0 0 DPT 1805 broad.mit.edu 37 1 168698194 168698194 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:168698194C>T ENST00000367817.3 - 1 308 c.219G>A c.(217-219)tgG>tgA p.W73* NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 73 2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY]. cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) AGGCGTAGTTCCATTGTCTGT 0.587000 25 54 0 0 0.00127121 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122964820 122964820 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:122964820G>A ENST00000543897.1 - 9 2698 c.343C>T c.(343-345)Cag>Tag p.Q115* ZCCHC8_ENST00000336229.4_Nonsense_Mutation_p.Q353*|ZCCHC8_ENST00000536306.1_Nonsense_Mutation_p.Q115* Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 353 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) CTTTTATTCTGTTGTATTTCT 0.353000 5 9 0 0 0.00116845 0 0 TACC2 10579 broad.mit.edu 37 10 123846454 123846454 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:123846454G>A ENST00000369005.1 + 4 4779 c.4439G>A c.(4438-4440)gGa>gAa p.G1480E TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.G1480E|TACC2_ENST00000515603.1_Missense_Mutation_p.G1480E|TACC2_ENST00000515273.1_Missense_Mutation_p.G1480E|TACC2_ENST00000334433.3_Missense_Mutation_p.G1480E NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1480 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) CAGTTGGCTGGAGAGGCTGAG 0.592000 5 37 0 0 0.000602214 0 0 SGPP2 130367 broad.mit.edu 37 2 223423243 223423243 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:223423243G>A ENST00000321276.7 + 5 912 c.826G>A c.(826-828)Gac>Aac p.D276N NM_152386.2 NP_689599.2 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphatase 2 276 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) AACCCGGGCGGACACCACCAC 0.547000 33 137 0 0 0.000692331 0 0 GPR50 9248 broad.mit.edu 37 X 150349793 150349793 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:150349793G>A ENST00000218316.3 + 2 1807 c.1738G>A c.(1738-1740)Gag>Aag p.E580K NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 580 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CAGCCAGCTGGAGTCTGACAC 0.562000 33 50 0 0 0.000491102 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62670703 62670703 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:62670703G>A ENST00000337910.5 - 4 575 c.238C>T c.(238-240)Ctc>Ttc p.L80F RHOBTB1_ENST00000357917.4_Missense_Mutation_p.L80F NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 80 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) CAAAGCCTGAGAGAAACACTC 0.483000 6 39 0 0 0.00198382 0 0 DAGLA 747 broad.mit.edu 37 11 61490429 61490429 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:61490429C>T ENST00000257215.5 + 4 522 c.406C>T c.(406-408)Ctc>Ttc p.L136F NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 136 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) GAATGTCACCCTCGGTACGTC 0.592000 28 25 0 0 0.00127121 0 0 PCSK2 5126 broad.mit.edu 37 20 17446151 17446151 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:17446151C>T ENST00000262545.2 + 11 1698 c.1383C>T c.(1381-1383)acC>acT p.T461T PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.T442T|PCSK2_ENST00000536609.1_Silent_p.T426T NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 461 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity p.T461I(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACTGGAAAACCGTGCCTGAGA 0.567000 6 26 0 0 0.00198382 0 0 SLC9C2 284525 broad.mit.edu 37 1 173486830 173486830 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:173486830G>A ENST00000367714.3 - 23 3175 c.2753C>T c.(2752-2754)tCt>tTt p.S918F SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 918 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AAAGGTAGGAGATAAACTATG 0.388000 11 91 0 0 0.00185496 0 0 SUSD2 56241 broad.mit.edu 37 22 24584023 24584023 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:24584023G>A ENST00000358321.3 + 13 2522 c.2261G>A c.(2260-2262)gGc>gAc p.G754D NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 754 Sushi. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 TGTGACAACGGCTACAGCCTG 0.637000 46 107 0 0 0.000781405 0 0 PTPRJ 5795 broad.mit.edu 37 11 48185144 48185144 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:48185144C>T ENST00000418331.2 + 23 4045 c.3693C>T c.(3691-3693)ccC>ccT p.P1231P NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1231 Tyrosine-protein phosphatase. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 AGAGTCCTCCCGAATCGCCGA 0.488000 5 32 0 0 0.000602214 0 0 ZNF341 84905 broad.mit.edu 37 20 32332928 32332928 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:32332928C>T ENST00000375200.1 + 3 527 c.162C>T c.(160-162)ctC>ctT p.L54L ZNF341_ENST00000342427.2_Silent_p.L54L Q9BYN7 ZN341_HUMAN zinc finger protein 341 54 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 ATGTATTTCTCTGCGGGAAGT 0.517000 26 100 0 0 0.001512 0 0 MXRA5 25878 broad.mit.edu 37 X 3241612 3241612 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:3241612C>T ENST00000217939.6 - 5 2268 c.2114G>A c.(2113-2115)gGa>gAa p.G705E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 705 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) CTCTTCATCTCCCATGCCCGA 0.517000 7 14 0 0 0.000157383 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97371190 97371190 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:97371190G>A ENST00000371224.2 - 16 2070 c.1933C>T c.(1933-1935)Cat>Tat p.H645Y ALDH18A1_ENST00000371221.3_Missense_Mutation_p.H643Y NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 645 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) GGGCCTGCATGAATTTTTACC 0.448000 22 102 0 0 0.00229938 0 0 VPREB1 7441 broad.mit.edu 37 22 22599458 22599458 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:22599458C>T ENST00000403807.3 + 2 286 c.147C>T c.(145-147)atC>atT p.I49I VPREB1_ENST00000302273.2_Silent_p.I48I P12018 VPREB_HUMAN pre-B lymphocyte 1 49 Complementarity-determining-1.|Ig-like V-type. immune response extracellular region antigen binding|protein binding large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) ACCATGACATCGGTGTGTACA 0.617000 42 94 0 0 0.000781405 0 0 GUCY2F 2986 broad.mit.edu 37 X 108684702 108684702 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:108684702G>A ENST00000218006.2 - 7 1870 c.1579C>T c.(1579-1581)Cgt>Tgt p.R527C NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 527 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 ACACTGGCACGACTTCCTCTC 0.408000 43 64 0 0 0.000781405 0 0 KCNT1 57582 broad.mit.edu 37 9 138649043 138649043 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:138649043G>A ENST00000298480.5 + 8 716 c.642G>A c.(640-642)ctG>ctA p.L214L KCNT1_ENST00000371757.2_Silent_p.L214L|KCNT1_ENST00000490355.2_Silent_p.L195L|KCNT1_ENST00000263604.3_Silent_p.L195L|KCNT1_ENST00000488444.2_Silent_p.L195L|KCNT1_ENST00000487664.1_Silent_p.L166L|KCNT1_ENST00000486577.2_Silent_p.L175L|KCNT1_ENST00000491806.2_Silent_p.L181L B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 214 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) CCTTCGTCCTGGAGATGATCA 0.662000 44 59 0 0 0.000781405 0 0 DDX27 55661 broad.mit.edu 37 20 47858706 47858706 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:47858706C>T ENST00000371764.4 + 18 2181 c.2172C>T c.(2170-2172)gcC>gcT p.A724A DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 724 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCAAGCGGGCCCGAGCAATGC 0.567000 9 39 0 0 0.000274275 0 0 SRPX2 27286 broad.mit.edu 37 X 99919927 99919927 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:99919927G>A ENST00000373004.3 + 5 940 c.512G>A c.(511-513)gGa>gAa p.G171E NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 171 Sushi 2. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 AGATGGAGTGGAGGCGAGCCT 0.522000 4 7 0 0 0.000602214 0 0 SP100 6672 broad.mit.edu 37 2 231380144 231380144 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:231380144C>T ENST00000264052.5 + 25 2784 c.2429C>T c.(2428-2430)aCc>aTc p.T810I SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 810 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) TGGAATAACACCGCTGCAGCT 0.428000 14 41 0 0 0.000422831 0 0 UPF1 5976 broad.mit.edu 37 19 18976152 18976152 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:18976152C>T ENST00000262803.5 + 21 3184 c.2912C>T c.(2911-2913)gCc>gTc p.A971V UPF1_ENST00000599848.1_Missense_Mutation_p.A982V NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 982 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 ATGATCAGTGCCGGCCCTAGC 0.587000 13 37 0 0 0.00136819 0 0 COL3A1 1281 broad.mit.edu 37 2 189852835 189852835 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:189852835G>A ENST00000304636.3 + 6 727 c.557G>A c.(556-558)gGt>gAt p.G186D COL3A1_ENST00000317840.5_Missense_Mutation_p.G186D NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 186 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) GGTCCCCCTGGTACATCTGGT 0.388000 18 34 0 0 0.00188189 0 0 PTPRG 5793 broad.mit.edu 37 3 62204658 62204658 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:62204658G>A ENST00000474889.1 + 13 2665 c.e13+1 PTPRG_ENST00000295874.10_Splice_Site NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TTTACTGGAGGTAAGCCAGGC 0.562000 38 101 0 0 0.000589545 0 0 APPL1 26060 broad.mit.edu 37 3 57294004 57294004 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:57294004C>T ENST00000288266.3 + 17 1762 c.1615C>T c.(1615-1617)Cgt>Tgt p.R539C NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 539 PID. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) TAACATCTTTCGTATGACAGA 0.378000 17 51 0 0 0.00074312 0 0 TRAV1-1 28693 broad.mit.edu 37 14 22090574 22090574 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:22090574C>T ENST00000542354.1 + 0 246 GCGGAGCACCCACATTTCTTT 0.478000 14 108 0 0 0.000422831 0 0 PRR16 51334 broad.mit.edu 37 5 120021869 120021869 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:120021869C>T ENST00000379551.2 + 3 668 c.311C>T c.(310-312)cCa>cTa p.P104L PRR16_ENST00000446965.1_Missense_Mutation_p.P57L|PRR16_ENST00000407149.2_Missense_Mutation_p.P127L|PRR16_ENST00000505123.1_Missense_Mutation_p.P57L NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 127 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CCACCTCCTCCAAGGTTGACA 0.512000 13 37 0 0 0.000422831 0 0 FAM81A 145773 broad.mit.edu 37 15 59813483 59813483 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:59813483C>T ENST00000288228.5 + 9 1200 c.1013C>T c.(1012-1014)tCc>tTc p.S338F NM_152450.2 NP_689663.2 Q8TBF8 FA81A_HUMAN family with sequence similarity 81, member A 338 endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 AGCATAGGATCCCTCAGGCAA 0.443000 14 39 0 0 0.000422831 0 0 PTEN 5728 broad.mit.edu 37 10 89624249 89624249 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:89624249T>C ENST00000371953.3 + 1 1380 c.23T>C c.(22-24)aTc>aCc p.I8T NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 8 activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(13)|p.I8_R14>LRLICIF(1)|p.A3fs*14(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ATCAAAGAGATCGTTAGCAGA 0.488000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 30 144 0 0 0.00195071 0 0 IHH 3549 broad.mit.edu 37 2 219920036 219920036 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:219920036G>A ENST00000295731.5 - 3 1128 c.1129C>T c.(1129-1131)Ccg>Tcg p.P377S NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 377 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCTCCCCCGGAGTCCAGCTG 0.662000 9 16 0 0 0.000442599 0 0 PRR11 55771 broad.mit.edu 37 17 57262837 57262837 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:57262837C>T ENST00000262293.4 + 4 628 c.316C>T c.(316-318)Cgt>Tgt p.R106C NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 106 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CTTTCCATCTCGTATCTGCCA 0.348000 33 66 0 0 0.000814825 0 0 PITPNM3 83394 broad.mit.edu 37 17 6441394 6441394 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:6441394G>A ENST00000262483.8 - 2 118 c.31C>T c.(31-33)Ccc>Tcc p.P11S ACKR6_ENST00000421306.3_Missense_Mutation_p.P11S NM_031220.3 NP_112497.2 CCGCCCGGGGGAGGACCACCT 0.557000 8 19 0 0 0.000157383 0 0 PELP1 27043 broad.mit.edu 37 17 4576113 4576113 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:4576113G>A ENST00000301396.4 - 16 2830 c.2605C>T c.(2605-2607)Cct>Tct p.P869S PELP1_ENST00000436683.2_Missense_Mutation_p.P578S|PELP1_ENST00000574876.1_Missense_Mutation_p.P725S|PELP1_ENST00000269230.7_Missense_Mutation_p.P635S|PELP1_ENST00000572293.1_Missense_Mutation_p.P775S Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 725 Pro-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 TCAGGGCCAGGAAGAAGCCGG 0.632000 9 19 0 0 0.000274275 0 0 SCN11A 11280 broad.mit.edu 37 3 38968362 38968362 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:38968362G>A ENST00000302328.3 - 4 747 c.549C>T c.(547-549)ttC>ttT p.F183F SCN11A_ENST00000444237.2_Silent_p.F183F|SCN11A_ENST00000456224.3_Silent_p.F183F|SCN11A_ENST00000450244.1_Silent_p.F183F NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 183 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) CATCCAGAATGAAACCTCTTG 0.343000 29 97 0 0 0.00127121 0 0 FUT3 2525 broad.mit.edu 37 19 5844648 5844648 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:5844648C>A ENST00000303225.6 - 3 837 c.203G>T c.(202-204)cGg>cTg p.R68L FUT3_ENST00000458379.2_Missense_Mutation_p.R68L|FUT3_ENST00000589918.1_Missense_Mutation_p.R68L|FUT3_ENST00000589620.1_Missense_Mutation_p.R68L NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 68 W -> R (in Le(-); dbSNP:rs812936). protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 AGGCCATGTCCGTAGCAGGAT 0.647000 6 108 0.00198382 0.0087276 0.00198382 1 0 ATXN3L 92552 broad.mit.edu 37 X 13337048 13337048 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:13337048C>T ENST00000380622.2 - 1 1470 c.1006G>A c.(1006-1008)Gcc>Acc p.A336T GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 336 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 TCGACAGCGGCCTGTACTGTG 0.398000 38 73 0 0 0.00222228 0 0 RRH 10692 broad.mit.edu 37 4 110763678 110763678 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:110763678C>T ENST00000317735.4 + 6 808 c.774C>T c.(772-774)atC>atT p.I258I NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 258 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) CTTATTCCATCGTGTGCTTAT 0.413000 16 65 0 0 0.000566183 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698219 111698219 + Missense_Mutation SNP C C G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:111698219C>G ENST00000340433.2 + 1 493 c.263C>G c.(262-264)tCt>tGt p.S88C NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 88 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 CTCCAAATCTCTAATCCTGCA 0.448000 11 22 0 0 0.00136819 0 0 CMTM5 116173 broad.mit.edu 37 14 23848245 23848245 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:23848245C>T ENST00000359320.3 + 3 729 c.285C>T c.(283-285)ttC>ttT p.F95F CMTM5_ENST00000397227.3_Silent_p.F44F|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000339180.4_Silent_p.F162F|CMTM5_ENST00000555731.1_Silent_p.F57F|CMTM5_ENST00000342473.4_Intron NM_138460.2 NP_612469.1 Q96DZ9 CKLF5_HUMAN CKLF-like MARVEL transmembrane domain containing 5 162 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 8 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) CCCAGGACTTCCTGCGCTGTG 0.607000 5 25 0 0 0.000602214 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799099 57799099 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:57799099C>T ENST00000302622.3 + 1 698 c.675C>T c.(673-675)atC>atT p.I225I OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) ATGGCAACATCGTCTGGACAC 0.557000 30 49 0 0 0.001512 0 0 LPIN1 23175 broad.mit.edu 37 2 11922626 11922626 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:11922626G>T ENST00000256720.2 + 7 1242 c.1149G>T c.(1147-1149)agG>agT p.R383S LPIN1_ENST00000396097.1_Missense_Mutation_p.R113S|LPIN1_ENST00000396098.1_Missense_Mutation_p.R425S|LPIN1_ENST00000425416.2_Missense_Mutation_p.R389S|LPIN1_ENST00000449576.2_Missense_Mutation_p.R468S|LPIN1_ENST00000396099.1_Missense_Mutation_p.R425S NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 383 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CTCCTTCCAGGAAAAGAGGTA 0.522000 19 62 3.01185e-09 1.34845e-08 0.000586117 1 0 WDR7 23335 broad.mit.edu 37 18 54358469 54358469 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:54358469C>T ENST00000254442.3 + 8 951 c.740C>T c.(739-741)tCc>tTc p.S247F WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.S247F NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 247 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GGAGACTATTCCTTGTTGTGT 0.403000 20 140 0 0 0.000586117 0 0 TLL1 7092 broad.mit.edu 37 4 166924569 166924569 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:166924569G>A ENST00000061240.2 + 6 1306 c.659G>A c.(658-660)gGa>gAa p.G220E TLL1_ENST00000513213.1_Missense_Mutation_p.G220E|TLL1_ENST00000507499.1_Missense_Mutation_p.G220E NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 220 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) GGTCGGCGAGGAAATGGACCT 0.438000 8 49 0 0 0.000157383 0 0 ACOX3 8310 broad.mit.edu 37 4 8401339 8401339 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:8401339G>A ENST00000356406.5 - 8 894 c.817C>T c.(817-819)Ctt>Ttt p.L273F ACOX3_ENST00000413009.2_Missense_Mutation_p.L273F|ACOX3_ENST00000503233.1_Missense_Mutation_p.L273F NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 273 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity p.L273F(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 CGGTTCAGAAGGCTCTGGCGA 0.602000 6 71 0 0 0.000157383 0 0 TIAM2 26230 broad.mit.edu 37 6 155450882 155450882 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:155450882C>T ENST00000461783.3 + 6 1798 c.525C>T c.(523-525)gtC>gtT p.V175V TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Silent_p.V175V|TIAM2_ENST00000360366.4_Silent_p.V175V|TIAM2_ENST00000318981.5_Silent_p.V175V|TIAM2_ENST00000456144.1_Silent_p.V175V Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 175 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GTTTAAGGGTCGAGTTCCACA 0.587000 12 23 0 0 0.00185496 0 0 OR10J5 127385 broad.mit.edu 37 1 159505126 159505126 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:159505126G>A ENST00000334857.2 - 1 716 c.672C>T c.(670-672)atC>atT p.I224I NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) CAATTTGAAGGATGGAAGAGA 0.453000 7 40 0 0 0.000274275 0 0 CARD8 22900 broad.mit.edu 37 19 48735002 48735002 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:48735002C>T ENST00000391898.3 - 5 499 c.457G>A c.(457-459)Gaa>Aaa p.E153K CARD8_ENST00000359009.4_Missense_Mutation_p.E48K|CARD8_ENST00000521613.1_Missense_Mutation_p.E103K|CARD8_ENST00000447740.2_Missense_Mutation_p.E103K|CARD8_ENST00000520153.1_Missense_Mutation_p.E103K|CARD8_ENST00000520753.1_Missense_Mutation_p.E153K|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000519940.1_Missense_Mutation_p.E153K|CARD8_ENST00000520015.1_Missense_Mutation_p.E153K|ZNF114_ENST00000597695.1_Intron NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 48 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) TAATCTTCTTCGATCTCAAAA 0.358000 39 50 0 0 0.00148497 0 0 F3 2152 broad.mit.edu 37 1 95007189 95007189 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:95007189C>T ENST00000334047.7 - 1 167 c.4G>A c.(4-6)Gag>Aag p.E2K F3_ENST00000370207.4_Missense_Mutation_p.E2K|F3_ENST00000480356.1_5'UTR NM_001993.4 NP_001984.1 P13726 TF_HUMAN coagulation factor III (thromboplastin, tissue factor) 2 activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) GCAGGGGTCTCCATGTCTACC 0.741000 11 20 0 0 0.000308642 0 0 PRDM1 639 broad.mit.edu 37 6 106552989 106552989 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:106552989C>T ENST00000369096.4 + 5 1188 c.954C>T c.(952-954)atC>atT p.I318I PRDM1_ENST00000369089.3_Silent_p.I184I|PRDM1_ENST00000369091.2_Silent_p.I282I NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 318 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) CCTACGGGATCGAGAGACCCA 0.607000 """D, N, Mis, F, S""" DLBCL 38 61 0 0 0.00111076 0 0 GPR137 56834 broad.mit.edu 37 11 64055847 64055847 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:64055847C>T ENST00000539851.1 + 6 1286 c.819C>T c.(817-819)taC>taT p.Y273Y GPR137_ENST00000438980.2_Silent_p.Y273Y|GPR137_ENST00000377702.4_Silent_p.Y223Y|GPR137_ENST00000313074.3_Silent_p.Y273Y|GPR137_ENST00000411458.1_Silent_p.Y331Y NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 273 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 ACAAAGGCTACCTGGTATTTG 0.637000 45 64 0 0 0.000781405 0 0 KAT6B 23522 broad.mit.edu 37 10 76788998 76788998 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:76788998G>A ENST00000287239.4 + 18 4905 c.4416G>A c.(4414-4416)gaG>gaA p.E1472E KAT6B_ENST00000372711.1_Silent_p.E1289E|KAT6B_ENST00000372725.1_Silent_p.E1180E|KAT6B_ENST00000372724.1_Silent_p.E1180E|KAT6B_ENST00000372714.1_Silent_p.E1180E NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1472 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CGAACCCAGAGGTCTTAATGG 0.517000 9 46 0 0 0.00185496 0 0 PIAS2 9063 broad.mit.edu 37 18 44424774 44424774 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:44424774C>A ENST00000585916.1 - 7 889 c.890G>T c.(889-891)cGg>cTg p.R297L PIAS2_ENST00000545673.1_Missense_Mutation_p.R7L|PIAS2_ENST00000324794.7_Missense_Mutation_p.R297L NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 297 PINIT. androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 TGTAAGCTGCCGTACAAGATA 0.303000 6 73 0.00198382 0.0087276 0.00198382 1 0 PAPPA 5069 broad.mit.edu 37 9 118997420 118997420 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:118997420C>T ENST00000328252.3 + 7 2605 c.2236C>T c.(2236-2238)Cat>Tat p.H746Y PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 746 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 CTGCATAGGTCATCCTGATGT 0.517000 20 41 0 0 0.00047179 0 0 SCGB2A1 4246 broad.mit.edu 37 11 61977904 61977904 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:61977904G>A ENST00000244930.4 + 2 139 c.75G>A c.(73-75)ctG>ctA p.L25L NM_002407.2 NP_002398.1 O75556 SG2A1_HUMAN secretoglobin, family 2A, member 1 25 extracellular region androgen binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 GCAAACTCCTGGAGGACATGG 0.393000 36 68 0 0 0.000814825 0 0 ATP8B1 5205 broad.mit.edu 37 18 55355657 55355657 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:55355657T>C ENST00000536015.1 - 13 1422 c.1303A>G c.(1303-1305)Aaa>Gaa p.K435E ATP8B1_ENST00000283684.4_Missense_Mutation_p.K435E|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 435 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GTTCTAGCTTTTGCGGGTGTG 0.443000 37 69 0 0 0.00195071 0 0 ZFX 7543 broad.mit.edu 37 X 24197304 24197304 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:24197304T>C ENST00000379177.1 + 6 490 c.63T>C c.(61-63)gcT>gcC p.A21A ZFX_ENST00000540034.1_Silent_p.A60A|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Silent_p.A21A|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Silent_p.A21A|ZFX_ENST00000338565.3_Silent_p.A21A NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 TTTAAGGAGCTGATGGTACAC 0.323000 22 43 0 0 0.00229938 0 0 HCLS1 3059 broad.mit.edu 37 3 121354611 121354611 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:121354611G>A ENST00000314583.3 - 9 753 c.662C>T c.(661-663)gCt>gTt p.A221V HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.A184V NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 221 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CTTCTTATAAGCTGTGGTCGG 0.542000 10 93 0 0 0.000978159 0 0 PLIN5 440503 broad.mit.edu 37 19 4523678 4523678 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:4523678G>A ENST00000381848.3 - 8 1334 c.1254C>T c.(1252-1254)gcC>gcT p.A418A NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 418 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 CTGCCTCCCAGGCTCTCTGCT 0.716000 OREG0025168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 150 0 0 0.000781405 0 0 FASN 2194 broad.mit.edu 37 17 80046119 80046119 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:80046119G>A ENST00000306749.2 - 17 2876 c.2658C>T c.(2656-2658)ttC>ttT p.F886F NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 886 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CAGTGGCGGGGAAGAGGACGC 0.672000 12 41 0 0 0.000308642 0 0 SEMA4C 54910 broad.mit.edu 37 2 97527359 97527359 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:97527359G>A ENST00000305476.5 - 14 1761 c.1629C>T c.(1627-1629)acC>acT p.T543T NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 543 PSI. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 AAGTGTCCGAGGTCATCACAT 0.562000 41 139 0 0 0.000781405 0 0 FLT4 2324 broad.mit.edu 37 5 180047284 180047284 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:180047284C>T ENST00000261937.6 - 17 2509 c.2431G>A c.(2431-2433)Ggc>Agc p.G811S FLT4_ENST00000502649.1_Missense_Mutation_p.G811S|FLT4_ENST00000393347.3_Missense_Mutation_p.G811S NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 811 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) GACAGGTAGCCCGTCTTGATG 0.622000 18 133 0 0 0.000375601 0 0 TEKT3 64518 broad.mit.edu 37 17 15212126 15212126 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:15212126C>T ENST00000395930.1 - 8 1297 c.1111G>A c.(1111-1113)Gag>Aag p.E371K TEKT3_ENST00000338696.2_Missense_Mutation_p.E371K NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 371 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TGGAAAATCTCCTGCAGGGTC 0.537000 47 56 0 0 0.000781405 0 0 FANK1 92565 broad.mit.edu 37 10 127697982 127697982 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:127697982G>A ENST00000368695.1 + 11 1117 c.995G>A c.(994-996)aGg>aAg p.R332K FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Missense_Mutation_p.R338K NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 338 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) AAAAAGCAGAGGCCAAAGAAG 0.418000 8 40 0 0 0.000274275 0 0 PPFIA4 8497 broad.mit.edu 37 1 203033126 203033126 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:203033126C>T ENST00000367240.2 + 24 3509 c.2982C>T c.(2980-2982)ttC>ttT p.F994F PPFIA4_ENST00000295706.4_Silent_p.F500F|PPFIA4_ENST00000447715.2_Silent_p.F993F|PPFIA4_ENST00000272198.6_Silent_p.F509F|PPFIA4_ENST00000414050.2_Silent_p.F722F|PPFIA4_ENST00000599966.1_Silent_p.F500F O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 509 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 TGGACAGCTTCCATCGGTGAG 0.637000 13 42 0 0 0.00185496 0 0 GRM2 2912 broad.mit.edu 37 3 51747141 51747141 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:51747141G>T ENST00000395052.3 + 3 1337 c.1103G>T c.(1102-1104)cGg>cTg p.R368L GRM2_ENST00000442933.2_Missense_Mutation_p.R368L|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 368 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CACTCTCTCCGGGCTGTGCCC 0.612000 5 33 0.000602214 0.00266649 0.000602214 1 0 FAM83C 128876 broad.mit.edu 37 20 33875448 33875448 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:33875448G>A ENST00000374408.3 - 4 1230 c.1134C>T c.(1132-1134)tcC>tcT p.S378S NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 378 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) CCAGGGACGAGGACACCACAC 0.632000 7 33 0 0 0.000274275 0 0 TTN 7273 broad.mit.edu 37 2 179535832 179535832 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179535832C>T ENST00000589042.1 - 156 35517 c.35293G>A c.(35293-35295)Gag>Aag p.E11765K TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10464K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11391K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9883 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) GCTGGTGGCTCTTTTCGAGGA 0.363000 13 29 0 0 0.000422831 0 0 PKDREJ 10343 broad.mit.edu 37 22 46658098 46658098 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:46658098C>T ENST00000253255.5 - 1 1121 c.1122G>A c.(1120-1122)caG>caA p.Q374Q NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 374 REJ. 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) ACCAAAAGAACTGGAGTCCCT 0.532000 33 126 0 0 0.000692331 0 0 GCN1L1 10985 broad.mit.edu 37 12 120594775 120594775 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:120594775G>A ENST00000300648.6 - 27 3121 c.3109C>T c.(3109-3111)Cgc>Tgc p.R1037C NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1037 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATGGCCACGCGAGGCAGCAAC 0.602000 21 36 0 0 0.000375601 0 0 MEP1B 4225 broad.mit.edu 37 18 29797058 29797058 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:29797058C>T ENST00000269202.6 + 13 1911 c.1864C>T c.(1864-1866)Cga>Tga p.R622* MEP1B_ENST00000581447.1_Nonsense_Mutation_p.R622* NM_005925.2 NP_005916.2 Q16820 MEP1B_HUMAN meprin A, beta 622 EGF-like. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CTGCACTGTTCGAGATGGCAA 0.398000 19 62 0 0 0.00229938 0 0 KCNH6 81033 broad.mit.edu 37 17 61613053 61613053 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:61613053G>A ENST00000583023.1 + 6 1136 c.1125G>A c.(1123-1125)ttG>ttA p.L375L KCNH6_ENST00000581784.1_Silent_p.L375L|KCNH6_ENST00000314672.5_Silent_p.L375L|KCNH6_ENST00000580652.1_Silent_p.L375L|KCNH6_ENST00000456941.2_Silent_p.L375L NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 375 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TTGGGCTATTGAAGACAGCGC 0.602000 28 39 0 0 0.000491102 0 0 METTL4 64863 broad.mit.edu 37 18 2544257 2544257 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:2544257G>A ENST00000574538.1 - 8 1985 c.1210C>T c.(1210-1212)Cca>Tca p.P404S METTL4_ENST00000319888.6_Intron NM_022840.3 NP_073751.3 Q8N3J2 METL4_HUMAN methyltransferase like 4 404 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 TTGTGGTCTGGAATGGGGAGC 0.348000 8 56 0 0 0.000442599 0 0 TTN 7273 broad.mit.edu 37 2 179588149 179588149 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179588149C>T ENST00000589042.1 - 74 21902 c.21678G>A c.(21676-21678)gtG>gtA p.V7226V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V5982V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.V6909V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6909 Ig-like 54. 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) GCAAACCTTTCACAAAGAGAC 0.398000 10 12 0 0 0.00185496 0 0 COL6A6 131873 broad.mit.edu 37 3 130308001 130308001 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:130308001G>A ENST00000358511.6 + 11 4224 c.4193G>A c.(4192-4194)gGa>gAa p.G1398E COL6A6_ENST00000453409.2_Missense_Mutation_p.G1398E NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1398 Triple-helical region. 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 GGCACAATGGGAGATCCTGGA 0.428000 9 31 0 0 0.000673444 0 0 SULF1 23213 broad.mit.edu 37 8 70498635 70498635 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:70498635C>T ENST00000260128.4 + 7 1173 c.456C>T c.(454-456)atC>atT p.I152I SULF1_ENST00000402687.4_Silent_p.I152I|SULF1_ENST00000419716.3_Silent_p.I152I|SULF1_ENST00000458141.2_Silent_p.I152I NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 152 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GCAGCTACATCCCCCCTGGGT 0.348000 17 53 0 0 0.00152264 0 0 SNHG14 104472715 broad.mit.edu 37 15 25325359 25325359 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:25325359C>T ENST00000549804.2 + 0 1377 SNORD116-14_ENST00000383894.1_RNA TCTATACCGTCATTCTCGTCG 0.458000 29 83 0 0 0.000491102 0 0 UBBP4 23666 broad.mit.edu 37 17 21731336 21731336 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:21731336C>T ENST00000584755.1 + 2 1035 c.638C>T c.(637-639)tCc>tTc p.S213F UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ACTACAACATCCAGAAGGAGT 0.542000 23 45 0 0 0.00127121 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798862 57798862 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:57798862C>T ENST00000302622.3 + 1 461 c.438C>T c.(436-438)atC>atT p.I146I OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) GCACCTGCATCCGTCTGGCAG 0.512000 17 37 0 0 0.000958276 0 0 NPAS3 64067 broad.mit.edu 37 14 34145419 34145419 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:34145419G>A ENST00000346562.2 + 5 539 c.465G>A c.(463-465)gtG>gtA p.V155V NPAS3_ENST00000357798.5_Silent_p.V174V|NPAS3_ENST00000356141.4_Silent_p.V187V|NPAS3_ENST00000548645.1_Silent_p.V157V|NPAS3_ENST00000551492.1_Silent_p.V192V|NPAS3_ENST00000341321.4_Silent_p.V187V|NPAS3_ENST00000547068.1_Silent_p.V83V|NPAS3_ENST00000551008.1_Silent_p.V85V NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 187 PAS 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CCCTCTAGGTGGAGCTGACAG 0.512000 10 50 0 0 0.000442599 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217601 150217601 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:150217601G>A ENST00000313543.4 + 2 696 c.539G>A c.(538-540)aGt>aAt p.S180N NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 180 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGAAGGAAAGTCAAGTGCAG 0.498000 23 45 0 0 0.00188189 0 0 GTDC1 79712 broad.mit.edu 37 2 144765040 144765040 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:144765040C>T ENST00000409214.1 - 7 862 c.584G>A c.(583-585)gGt>gAt p.G195D GTDC1_ENST00000392867.3_Missense_Mutation_p.G195D|GTDC1_ENST00000344850.4_Missense_Mutation_p.G195D|GTDC1_ENST00000463875.2_Missense_Mutation_p.G66D|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000241391.5_Missense_Mutation_p.G195D|GTDC1_ENST00000392869.1_Missense_Mutation_p.G195D|GTDC1_ENST00000542155.1_Missense_Mutation_p.G195D NM_001006636.3 NP_001006637.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 195 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) CAGAACCGCACCGCCATTTCC 0.408000 12 51 0 0 0.000219431 0 0 ATHL1 80162 broad.mit.edu 37 11 293665 293665 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:293665C>T ENST00000409548.2 + 10 1667 c.1552C>T c.(1552-1554)Cgc>Tgc p.R518C ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409479.1_Missense_Mutation_p.R545C NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 518 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 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;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) TCCTGATGTTCGCAGGAAAAA 0.612000 16 110 0 0 0.00074312 0 0 KLHL13 90293 broad.mit.edu 37 X 117033149 117033149 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:117033149G>A ENST00000371876.1 - 6 3958 c.1537C>T c.(1537-1539)Ctt>Ttt p.L513F KLHL13_ENST00000469946.1_Missense_Mutation_p.L513F|KLHL13_ENST00000539496.1_Missense_Mutation_p.L567F|KLHL13_ENST00000371878.1_Missense_Mutation_p.L513F|KLHL13_ENST00000545703.1_Missense_Mutation_p.L522F|KLHL13_ENST00000540167.1_Missense_Mutation_p.L548F|KLHL13_ENST00000541812.1_Missense_Mutation_p.L548F|KLHL13_ENST00000262820.3_Missense_Mutation_p.L564F|KLHL13_ENST00000371882.1_Missense_Mutation_p.L513F Q9P2N7 KLH13_HUMAN kelch-like family member 13 564 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CACTGGTCAAGGATAGGTGAA 0.453000 14 25 0 0 0.000219431 0 0 MKS1 54903 broad.mit.edu 37 17 56285884 56285884 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:56285884G>A ENST00000393119.2 - 12 1159 c.1085C>T c.(1084-1086)tCc>tTc p.S362F MKS1_ENST00000546108.1_Missense_Mutation_p.S159F|MKS1_ENST00000313863.6_Missense_Mutation_p.S362F|MKS1_ENST00000337050.7_Missense_Mutation_p.S362F|MKS1_ENST00000537529.2_Missense_Mutation_p.S352F NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 362 B9. cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CATTGCCAGGGACTTGGTGGT 0.527000 30 45 0 0 0.000814825 0 0 XPR1 9213 broad.mit.edu 37 1 180849408 180849408 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:180849408C>T ENST00000367590.4 + 14 2203 c.2005C>T c.(2005-2007)Ctg>Ttg p.L669L XPR1_ENST00000367589.3_Silent_p.L604L NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 669 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 GAGCATATCCCTGCGCCGGCC 0.488000 24 46 0 0 0.00127121 0 0 SEC16A 9919 broad.mit.edu 37 9 139371455 139371455 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:139371455G>A ENST00000313050.7 - 1 686 c.613C>T c.(613-615)Cct>Tct p.P205S SEC16A_ENST00000431893.2_Missense_Mutation_p.P27S|SEC16A_ENST00000371706.3_Missense_Mutation_p.P27S|SEC16A_ENST00000290037.6_Missense_Mutation_p.P27S NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 27 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CCAGGCTGAGGGAGGGAAGGG 0.657000 23 33 0 0 0.00229938 0 0 CEP135 9662 broad.mit.edu 37 4 56883940 56883940 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:56883940C>T ENST00000257287.4 + 22 3053 c.2929C>T c.(2929-2931)Ctt>Ttt p.L977F NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 977 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) CTTGTCATCTCTTAGAGAACT 0.358000 17 35 0 0 0.00074312 0 0 DNAH9 1770 broad.mit.edu 37 17 11572995 11572995 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:11572995G>A ENST00000262442.3 + 17 3305 c.3237G>A c.(3235-3237)aaG>aaA p.K1079K DNAH9_ENST00000454412.2_Silent_p.K1079K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1079 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) AACCCATCAAGGTGTTTGACG 0.463000 40 91 0 0 0.000781405 0 0 CR1L 1379 broad.mit.edu 37 1 207890927 207890927 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:207890927G>A ENST00000508064.2 + 11 1593 c.1533G>A c.(1531-1533)ggG>ggA p.G511G NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 511 Sushi 8. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CAGACAGAGGGATGACCTTCA 0.537000 23 70 0 0 0.00229938 0 0 TGM1 7051 broad.mit.edu 37 14 24728335 24728335 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:24728335C>T ENST00000206765.6 - 7 1228 c.1105G>A c.(1105-1107)Gga>Aga p.G369R TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 369 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) ACGGAATATCCCGTGCGTAGG 0.612000 5 18 0 0 0.00116845 0 0 C22orf24 25775 broad.mit.edu 37 22 32330163 32330163 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:32330163C>T ENST00000248984.3 - 3 590 c.424G>A c.(424-426)Gag>Aag p.E142K C22orf24_ENST00000543051.1_Missense_Mutation_p.E209K|C22orf24_ENST00000486651.1_5'UTR NM_015372.1 NP_056187.1 Q9Y442 CV024_HUMAN chromosome 22 open reading frame 24 142 integral to membrane central_nervous_system(1)|urinary_tract(1) 2 AAGCTTTCCTCTGATCTTCCT 0.512000 4 16 0 0 0.00024832 0 0 SAMD8 142891 broad.mit.edu 37 10 76910467 76910467 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:76910467G>T ENST00000542569.1 + 2 284 c.181G>T c.(181-183)Gtc>Ttc p.V61F SAMD8_ENST00000372687.3_Missense_Mutation_p.V61F|SAMD8_ENST00000372690.3_Missense_Mutation_p.V124F NM_001174156.1|NM_144660.2 NP_001167627.1|NP_653261.1 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 61 SAM. sphingomyelin biosynthetic process integral to membrane NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 12 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GGAAATCAAAGTCTTAGGGGA 0.388000 16 69 4.63292e-17 2.08062e-16 0.00121646 1 0 RANBP2 5903 broad.mit.edu 37 2 109379696 109379696 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:109379696C>T ENST00000283195.6 + 20 2827 c.2701C>T c.(2701-2703)Cca>Tca p.P901S NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 901 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 CTTTTAGGGCCCAGTCTATGG 0.393000 11 25 0 0 0.00136819 0 0 CSMD1 64478 broad.mit.edu 37 8 2820047 2820047 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:2820047G>A ENST00000602557.1 - 62 10127 c.9572C>T c.(9571-9573)tCc>tTc p.S3191F CSMD1_ENST00000542608.1_Missense_Mutation_p.S3013F|CSMD1_ENST00000520002.1_Missense_Mutation_p.S3191F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S3014F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S3014F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3190F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3191 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) TCTTCTGGAGGATCCCACGAG 0.502000 6 45 0 0 0.00198382 0 0 THSD7B 80731 broad.mit.edu 37 2 138169266 138169266 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:138169266C>T ENST00000409968.1 + 14 2961 c.2783C>T c.(2782-2784)tCc>tTc p.S928F THSD7B_ENST00000413152.2_Missense_Mutation_p.S897F|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S928F thrombospondin, type I, domain containing 7B 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) GAATTTATATCCCAACCTTAT 0.463000 45 103 0 0 0.00195071 0 0 SCYL3 57147 broad.mit.edu 37 1 169847945 169847945 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:169847945G>A ENST00000367772.4 - 3 378 c.181C>T c.(181-183)Cgt>Tgt p.R61C SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.R61C|SCYL3_ENST00000367771.5_Missense_Mutation_p.R61C NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 61 Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity p.R61C(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAAGGGTGACGAAGTGTCTTC 0.408000 16 109 0 0 0.000958276 0 0 FCAR 2204 broad.mit.edu 37 19 55399406 55399406 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:55399406C>T ENST00000355524.3 + 4 404 c.394C>T c.(394-396)Cgg>Tgg p.R132W FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Missense_Mutation_p.R120W|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391725.3_Missense_Mutation_p.R132W|FCAR_ENST00000469767.1_Missense_Mutation_p.R132W|FCAR_ENST00000391723.3_Missense_Mutation_p.R120W|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000359272.4_Missense_Mutation_p.R120W|FCAR_ENST00000353758.4_Missense_Mutation_p.R23W NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 132 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) CTCTGCAGATCGGGGTCTGGT 0.438000 38 52 0 0 0.000781405 0 0 KIAA1109 84162 broad.mit.edu 37 4 123269732 123269732 + Silent SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:123269732A>G ENST00000264501.4 + 77 13513 c.13140A>G c.(13138-13140)tcA>tcG p.S4380S KIAA1109_ENST00000388738.3_Silent_p.S4380S Q2LD37 K1109_HUMAN KIAA1109 4380 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 ATTCACTTTCAAAAACATCAA 0.318000 6 16 0 0 0.000157383 0 0 MCTP2 55784 broad.mit.edu 37 15 94899414 94899414 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:94899414C>T ENST00000357742.4 + 8 1054 c.1054C>T c.(1054-1056)Caa>Taa p.Q352* MCTP2_ENST00000451018.3_Nonsense_Mutation_p.Q352*|MCTP2_ENST00000543482.1_Nonsense_Mutation_p.Q352*|MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000331706.4_5'UTR NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 352 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GAAAAAGAACCAACTCTGGAA 0.398000 16 73 0 0 0.000958276 0 0 EIF3L 51386 broad.mit.edu 37 22 38266249 38266249 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:38266249C>T ENST00000412331.2 + 8 1228 c.646C>T c.(646-648)Cgt>Tgt p.R216C EIF3L_ENST00000406934.1_Missense_Mutation_p.R118C|EIF3L_ENST00000381683.6_Missense_Mutation_p.R168C|EIF3L_ENST00000476955.1_3'UTR NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 216 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TGACTTTCTTCGTTCCAATCC 0.433000 25 59 0 0 0.000878237 0 0 TTN 7273 broad.mit.edu 37 2 179534397 179534397 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179534397C>T ENST00000589042.1 - 158 35616 c.35392G>A c.(35392-35394)Gaa>Aaa p.E11798K TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9910 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) TTGGGTACTTCGGGTGCTTTA 0.378000 58 154 0 0 0.000781405 0 0 PAMR1 25891 broad.mit.edu 37 11 35457602 35457602 + Silent SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:35457602A>G ENST00000378880.2 - 9 1627 c.1182T>C c.(1180-1182)ctT>ctC p.L394L PAMR1_ENST00000378878.3_Silent_p.L283L|PAMR1_ENST00000532848.1_Silent_p.L354L|PAMR1_ENST00000278360.3_Silent_p.L411L NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 394 Sushi 2. 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 CTCCAAAGGGAAGGGCTGGCT 0.567000 19 119 0 0 0.00229938 0 0 MICALCL 84953 broad.mit.edu 37 11 12315422 12315422 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:12315422C>T ENST00000256186.2 + 3 735 c.444C>T c.(442-444)ccC>ccT p.P148P NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 148 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) AGCTATCTCCCTTGGCTGGAG 0.582000 4 26 0 0 0.00024832 0 0 TTLL8 164714 broad.mit.edu 37 22 50470286 50470286 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:50470286G>A ENST00000266182.6 - 11 1535 c.1536C>T c.(1534-1536)ttC>ttT p.F512F TTLL8_ENST00000440475.1_Silent_p.F492F tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) TCCCAAGGACGAAGTCAGCCC 0.627000 13 43 0 0 0.000308642 0 0 ALPK1 80216 broad.mit.edu 37 4 113347634 113347634 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:113347634G>A ENST00000458497.1 + 8 913 c.634G>A c.(634-636)Gaa>Aaa p.E212K ALPK1_ENST00000177648.9_Missense_Mutation_p.E212K|ALPK1_ENST00000504176.2_Missense_Mutation_p.E134K NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 212 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GATGTGGTACGAAGCAGCAGA 0.448000 20 78 0 0 0.00047179 0 0 LAMA1 284217 broad.mit.edu 37 18 6986233 6986233 + Missense_Mutation SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:6986233A>C ENST00000389658.3 - 37 5375 c.5282T>G c.(5281-5283)cTa>cGa p.L1761R NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1761 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) AGCCGCCTTTAGTTCATTGTT 0.468000 27 139 0 0 0.0024448 0 0 BDP1 55814 broad.mit.edu 37 5 70845412 70845412 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:70845412C>T ENST00000358731.4 + 34 7237 c.6974C>T c.(6973-6975)aCc>aTc p.T2325I BDP1_ENST00000380675.2_Intron NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2325 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TCAGTGAATACCGAAGAAAGG 0.413000 12 79 0 0 0.00185496 0 0 TC2N 123036 broad.mit.edu 37 14 92251687 92251687 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:92251687C>T ENST00000435962.2 - 11 1504 c.1181G>A c.(1180-1182)gGa>gAa p.G394E TC2N_ENST00000360594.5_Missense_Mutation_p.G394E|TC2N_ENST00000340892.5_Missense_Mutation_p.G394E|TC2N_ENST00000556018.1_Missense_Mutation_p.G330E NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 394 C2. nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) GCTAAACATTCCCACCTTCAC 0.338000 38 136 0 0 0.000953801 0 0 PKP2 5318 broad.mit.edu 37 12 32996197 32996197 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:32996197G>A ENST00000070846.6 - 6 1453 c.1429C>T c.(1429-1431)Cac>Tac p.H477Y PKP2_ENST00000340811.4_Intron NM_004572.3 NP_004563.2 Q99959 PKP2_HUMAN plakophilin 2 477 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) ttacaggcgtgagccaccgcg 0.557000 17 29 0 0 0.000422831 0 0 RNFT2 84900 broad.mit.edu 37 12 117217114 117217114 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:117217114C>T ENST00000257575.4 + 7 1076 c.843C>T c.(841-843)atC>atT p.I281I RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Silent_p.I281I|RNFT2_ENST00000392549.2_Silent_p.I281I Q96EX2 RNFT2_HUMAN ring finger protein, transmembrane 2 281 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) AGTGCCTCATCGTGGCCCTGC 0.552000 15 25 0 0 0.000308642 0 0 DNAH10 196385 broad.mit.edu 37 12 124345695 124345695 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:124345695C>T ENST00000409039.3 + 38 6557 c.6532C>T c.(6532-6534)Cca>Tca p.P2178S NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2178 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AATCAACAAGCCAACAGACAA 0.463000 10 21 0 0 0.000673444 0 0 CD1B 910 broad.mit.edu 37 1 158298751 158298751 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:158298751G>A ENST00000368168.3 - 5 1047 c.940C>T c.(940-942)Ctc>Ttc p.L314F NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 314 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) AGCAAAAGGAGCAAGGAAGGC 0.423000 25 65 0 0 0.000878237 0 0 OR6X1 390260 broad.mit.edu 37 11 123624553 123624553 + Missense_Mutation SNP C C T rs140203672 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:123624553C>T ENST00000327930.2 - 1 700 c.674G>A c.(673-675)cGa>cAa p.R225Q NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGAAGGAATTCGTAGGATTGC 0.473000 19 31 0 0 0.00121646 0 0 TLR6 10333 broad.mit.edu 37 4 38829376 38829376 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:38829376C>T ENST00000436693.2 - 2 1838 c.1719G>A c.(1717-1719)aaG>aaA p.K573K TLR6_ENST00000381950.1_Silent_p.K573K NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 573 LRRCT. activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGTGAAAGTCCTTTAGTGGGC 0.453000 14 63 0 0 0.000308642 0 0 TPTE2 93492 broad.mit.edu 37 13 20048070 20048070 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:20048070G>A ENST00000400230.2 - 6 420 c.376C>T c.(376-378)Cga>Tga p.R126* TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R126*|TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R126*|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R126*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R89*|TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R89*|TPTE2_ENST00000400103.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 126 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 p.R89G(1)|p.R126G(1) 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) ACAAATACTCGAAGAAGAACA 0.358000 11 53 0 0 0.000673444 0 0 LYNX1 66004 broad.mit.edu 37 8 143846063 143846063 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:143846063G>A ENST00000335822.5 - 5 983 c.356C>T c.(355-357)tCc>tTc p.S119F LYNX1_ENST00000523332.1_Intron|LYNX1_ENST00000317543.7_Missense_Mutation_p.S85F|RP11-706C16.7_ENST00000523657.1_RNA NM_023946.2 NP_076435.1 Q86SR0 SLUR2_HUMAN Ly6/neurotoxin 1 85 extracellular region endometrium(1)|lung(2)|skin(1) 4 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GCAAGCGATGGATACGTAGGG 0.662000 11 87 0 0 0.000219431 0 0 TENM3 55714 broad.mit.edu 37 4 183522226 183522226 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:183522226G>A ENST00000511685.1 + 4 784 c.661G>A c.(661-663)Gct>Act p.A221T TENM3_ENST00000406950.2_Missense_Mutation_p.A221T teneurin transmembrane protein 3 CCCGCCGGCTGCTTTGCCCGC 0.552000 27 120 0 0 0.000878237 0 0 NFX1 4799 broad.mit.edu 37 9 33294735 33294735 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:33294735C>A ENST00000379540.3 + 2 405 c.343C>A c.(343-345)Cat>Aat p.H115N NFX1_ENST00000379521.4_Missense_Mutation_p.H115N|NFX1_ENST00000318524.6_Missense_Mutation_p.H115N NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 115 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) TGAGAAGCACCATATCAGAGT 0.488000 8 130 0.000157383 0.000698722 0.000157383 1 0 SPNS3 201305 broad.mit.edu 37 17 4348457 4348457 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:4348457C>T ENST00000355530.2 + 3 676 c.396C>T c.(394-396)tcC>tcT p.S132S SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Intron NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 132 lipid transport|transmembrane transport integral to membrane p.S132S(2) NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 CCTTCATCTCCCCCCGGGTAC 0.622000 6 43 0 0 0.000157383 0 0 VWA5A 4013 broad.mit.edu 37 11 124007856 124007856 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:124007856C>T ENST00000456829.2 + 15 2011 c.1760C>T c.(1759-1761)gCt>gTt p.A587V VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.A587V NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 587 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 TCCTTCACAGCTTTCATTGCT 0.512000 32 55 0 0 0.000491102 0 0 SYT16 83851 broad.mit.edu 37 14 62567375 62567375 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:62567375G>A ENST00000430451.2 + 6 2085 c.1888G>A c.(1888-1890)Gaa>Aaa p.E630K NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 630 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GGAGATGAAGGAAACCAAAGG 0.502000 5 26 0 0 0.000602214 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212908 26212908 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:26212908G>A ENST00000379034.1 + 2 1094 c.945G>A c.(943-945)ggG>ggA p.G315G NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 315 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GTCTGTTGGGGATATATGATG 0.507000 29 50 0 0 0.000953801 0 0 FAM114A2 10827 broad.mit.edu 37 5 153407730 153407730 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:153407730G>A ENST00000351797.4 - 6 685 c.609C>T c.(607-609)aaC>aaT p.N203N FAM114A2_ENST00000520313.1_Silent_p.N133N|FAM114A2_ENST00000522858.1_Silent_p.N203N|FAM114A2_ENST00000520667.1_Silent_p.N203N NM_018691.2 NP_061161.2 Q9NRY5 F1142_HUMAN family with sequence similarity 114, member A2 203 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 TAGCATTTCGGTTCATCAGAC 0.388000 6 51 0 0 0.000157383 0 0 FBN3 84467 broad.mit.edu 37 19 8193953 8193953 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:8193953G>A ENST00000600128.1 - 18 2669 c.2255C>T c.(2254-2256)cCc>cTc p.P752L FBN3_ENST00000601739.1_Missense_Mutation_p.P752L|FBN3_ENST00000270509.2_Missense_Mutation_p.P752L Q75N90 FBN3_HUMAN fibrillin 3 752 EGF-like 9; 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 GAAGCCGGGGGGGCAGGAGCA 0.607000 22 77 0 0 0.00229938 0 0 FAT2 2196 broad.mit.edu 37 5 150906861 150906861 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:150906861G>A ENST00000261800.5 - 16 10254 c.10242C>T c.(10240-10242)atC>atT p.I3414I NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3414 Cadherin 30. 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) CAGCCACTTGGATAGCGATGT 0.532000 16 89 0 0 0.000566183 0 0 ATP1A2 477 broad.mit.edu 37 1 160105705 160105705 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:160105705C>T ENST00000361216.3 + 17 2450 c.2361C>T c.(2359-2361)ttC>ttT p.F787F ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.F787F NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 787 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCACCCCCTTCCTGCTGTTCA 0.557000 17 44 0 0 0.00074312 0 0 PDE4A 5141 broad.mit.edu 37 19 10528343 10528343 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:10528343G>A ENST00000380702.2 + 2 56 c.56G>A c.(55-57)aGg>aAg p.R19K PDE4A_ENST00000592685.1_Missense_Mutation_p.R19K P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 0 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) CAGAGGTCGAGGGAGACCCCC 0.682000 OREG0025236 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 22 0 0 0.000442599 0 0 PSG7 5676 broad.mit.edu 37 19 43430668 43430668 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:43430668C>T ENST00000446844.3 - 0 999 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GGTCCTGTTTCATTTCTCGTG 0.498000 47 45 0 0 0.000781405 0 0 SIDT1 54847 broad.mit.edu 37 3 113300238 113300238 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:113300238G>A ENST00000264852.4 + 6 1420 c.694G>A c.(694-696)Gaa>Aaa p.E232K SIDT1_ENST00000393830.3_Missense_Mutation_p.E232K NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 232 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 CCACAATGTGGAATTTAATGG 0.453000 22 58 0 0 0.00127121 0 0 TBC1D14 57533 broad.mit.edu 37 4 7026734 7026734 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:7026734C>T ENST00000409757.4 + 13 1885 c.1761C>T c.(1759-1761)atC>atT p.I587I TBC1D14_ENST00000451522.2_Silent_p.I307I|TBC1D14_ENST00000410031.1_Silent_p.I359I|TBC1D14_ENST00000448507.1_Silent_p.I587I|TBC1D14_ENST00000446947.2_Silent_p.I234I NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 587 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 CCCCTAGGATCTTTACCTTAT 0.463000 43 150 0 0 0.000781405 0 0 ZNF223 7766 broad.mit.edu 37 19 44570909 44570909 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:44570909C>T ENST00000591793.1 + 7 1341 c.1258C>T c.(1258-1260)Cac>Tac p.H420Y ZNF223_ENST00000434772.3_Missense_Mutation_p.H310Y Q9UK11 ZN223_HUMAN zinc finger protein 223 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) TTGTGTGGTCCACACAGGAAA 0.448000 22 47 0 0 0.00229938 0 0 IQCF3 401067 broad.mit.edu 37 3 51864652 51864652 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:51864652C>T ENST00000444293.1 + 3 230 c.190C>T c.(190-192)Ccg>Tcg p.P64S IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Silent_p.I100I|IQCF3_ENST00000456080.1_Silent_p.I100I|IQCF3_ENST00000440739.2_Silent_p.I100I|IQCF3_ENST00000437810.2_Silent_p.I100I P0C7M6 IQCF3_HUMAN IQ motif containing F3 0 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGTCCTGCATCCGCATGTGGC 0.597000 16 69 0 0 0.00121646 0 0 PHYH 5264 broad.mit.edu 37 10 13333889 13333889 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:13333889G>A ENST00000396920.3 - 5 785 c.381C>T c.(379-381)ttC>ttT p.F127F PHYH_ENST00000396913.2_Silent_p.F46F|PHYH_ENST00000263038.4_Silent_p.F146F O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 146 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TAGGTCCAGTGAAGCACTCCA 0.333000 15 100 0 0 0.000422831 0 0 EGFLAM 133584 broad.mit.edu 37 5 38458461 38458461 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:38458461C>T ENST00000322350.5 + 20 3082 c.2736C>T c.(2734-2736)ttC>ttT p.F912F EGFLAM_ENST00000336740.6_Silent_p.F678F|EGFLAM_ENST00000514476.1_Silent_p.F55F|EGFLAM_ENST00000354891.3_Silent_p.F920F|EGFLAM_ENST00000506135.1_Silent_p.F55F|EGFLAM_ENST00000397202.2_Silent_p.F278F|EGFLAM_ENST00000397210.3_Silent_p.F55F NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 920 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ATGGCTCCTTCAACGATGGTC 0.532000 11 57 0 0 0.00185496 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128848675 128848675 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:128848675C>T ENST00000310343.9 - 18 2069 c.2070G>A c.(2068-2070)atG>atA p.M690I ARHGAP32_ENST00000392657.3_Missense_Mutation_p.M341I|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.M341I|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M616I NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 690 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CTTTCAGAGCCATGGCTTTCA 0.473000 13 22 0 0 0.000422831 0 0 VCAN 1462 broad.mit.edu 37 5 82876171 82876171 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:82876171C>T ENST00000265077.3 + 15 10674 c.10109C>T c.(10108-10110)tCc>tTc p.S3370F VCAN_ENST00000343200.5_Missense_Mutation_p.S2383F|VCAN_ENST00000512590.2_Missense_Mutation_p.S1568F|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.S629F|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Missense_Mutation_p.S1616F NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3370 cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTTAAAAATTCCTCATCAGCA 0.388000 6 53 0 0 0.00198382 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849586 98849586 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:98849586G>A ENST00000554295.1 - 0 1337 NR_033801.1 CTCCAATGATGAAAACAGGGC 0.502000 14 49 0 0 0.000219431 0 0 SCN11A 11280 broad.mit.edu 37 3 38913713 38913713 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:38913713G>A ENST00000302328.3 - 20 3664 c.3466C>T c.(3466-3468)Cgt>Tgt p.R1156C SCN11A_ENST00000444237.2_Missense_Mutation_p.R1156C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R1118C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1156C NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1156 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) GACAGCGCACGAAGAGGCCTC 0.463000 30 110 0 0 0.00111076 0 0 COL11A1 1301 broad.mit.edu 37 1 103381206 103381206 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:103381206G>A ENST00000358392.2 - 50 4150 c.3833C>T c.(3832-3834)cCt>cTt p.P1278L COL11A1_ENST00000512756.1_Missense_Mutation_p.P1150L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1227L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1266L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1266 Triple-helical region. 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) TGCTTCCCCAGGAGGCCCTGG 0.363000 56 77 0 0 0.000781405 0 0 MIB2 142678 broad.mit.edu 37 1 1563427 1563427 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:1563427C>T ENST00000357210.4 + 14 2099 c.1883C>T c.(1882-1884)tCc>tTc p.S628F MIB2_ENST00000520777.1_Missense_Mutation_p.S681F|MIB2_ENST00000378710.3_Missense_Mutation_p.S592F|MIB2_ENST00000504599.1_Missense_Mutation_p.S584F|MIB2_ENST00000378708.1_Missense_Mutation_p.S534F|MIB2_ENST00000378712.1_Missense_Mutation_p.S505F|MIB2_ENST00000518681.1_Missense_Mutation_p.S620F|MIB2_ENST00000360522.4_Missense_Mutation_p.S593F|MIB2_ENST00000355826.5_Missense_Mutation_p.S671F|MIB2_ENST00000505820.2_Missense_Mutation_p.S685F NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 628 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCCCTGCACTCCGCCATCTCG 0.657000 18 36 0 0 0.000566183 0 0 C20orf194 25943 broad.mit.edu 37 20 3277588 3277588 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:3277588G>A ENST00000252032.9 - 23 2005 c.1938C>T c.(1936-1938)tcC>tcT p.S646S C20orf194_ENST00000498079.1_5'UTR|C20orf194_ENST00000453730.2_Silent_p.S384S NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 646 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 GTTTCCAGAGGGAGAAGACCT 0.398000 55 176 0 0 0.000781405 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45567391 45567391 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:45567391C>T ENST00000588982.1 - 3 589 c.88G>A c.(88-90)Gat>Aat p.D30N ZBTB7C_ENST00000535628.2_Missense_Mutation_p.D30N|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.D30N|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.D30N|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.D30N A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 30 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AGCAGGCCATCGTGCCGTTGC 0.567000 7 37 0 0 0.000157383 0 0 TRPM7 54822 broad.mit.edu 37 15 50902010 50902010 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:50902010A>T ENST00000313478.7 - 18 2710 c.2429T>A c.(2428-2430)aTc>aAc p.I810N TRPM7_ENST00000560955.1_Missense_Mutation_p.I810N NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 810 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TACCATGGGGATCTCTTCTGT 0.308000 8 78 0 0 0.000442599 0 0 PCLO 27445 broad.mit.edu 37 7 82580373 82580373 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:82580373C>T ENST00000423517.2 - 6 9868 c.9531G>A c.(9529-9531)acG>acA p.T3177T PCLO_ENST00000333891.8_Silent_p.T3177T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3108 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.T3177T(2)|p.T3108T(1) 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 CAGAGTCTATCGTCTCAGCAG 0.413000 9 19 0 0 0.000442599 0 0 SLC6A1 6529 broad.mit.edu 37 3 11076276 11076276 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:11076276C>T ENST00000287766.4 + 15 2008 c.1587C>T c.(1585-1587)ttC>ttT p.F529F SLC6A1_ENST00000536032.1_Silent_p.F351F NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 529 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) ACTATGTTTTCCCCAAGTGGG 0.592000 18 55 0 0 0.00152264 0 0 OR11H6 122748 broad.mit.edu 37 14 20692045 20692045 + Silent SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:20692045G>T ENST00000315519.2 + 1 255 c.177G>T c.(175-177)ggG>ggT p.G59G NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) CACTGCTAGGGAATGGAGCTA 0.478000 13 61 9.31168e-06 4.15461e-05 0.00185496 1 0 KCNE3 10008 broad.mit.edu 37 11 74168303 74168303 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:74168303C>T ENST00000310128.4 - 3 725 c.306G>A c.(304-306)atG>atA p.M102I KCNE3_ENST00000525550.1_Missense_Mutation_p.M102I|RP11-702H23.4_ENST00000533008.1_RNA NM_005472.4 NP_005463.1 Q9Y6H6 KCNE3_HUMAN potassium voltage-gated channel, Isk-related family, member 3 102 integral to membrane voltage-gated potassium channel activity cervix(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(11;2.86e-06) CGTGTTAGATCATAGACACAC 0.552000 4 14 0 0 0.00024832 0 0 ZNF728 388523 broad.mit.edu 37 19 23159812 23159812 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:23159812C>T ENST00000594710.1 - 4 472 c.327G>A c.(325-327)gaG>gaA p.E109E NM_001267716.1 NP_001254645.1 zinc finger protein 728 ACTGTAAATTCTCATGTCCAC 0.353000 8 27 0 0 0.000157383 0 0 CTNND2 1501 broad.mit.edu 37 5 11082926 11082926 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:11082926T>A ENST00000304623.8 - 16 2859 c.2670A>T c.(2668-2670)aaA>aaT p.K890N CTNND2_ENST00000503622.1_Missense_Mutation_p.K553N|CTNND2_ENST00000458100.2_Missense_Mutation_p.K457N|CTNND2_ENST00000511377.1_Missense_Mutation_p.K799N|CTNND2_ENST00000359640.2_Missense_Mutation_p.K832N|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 890 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 GGCCTTTCTCTTTTCGGACAG 0.542000 14 35 0 0 0.000308642 0 0 DSG3 1830 broad.mit.edu 37 18 29038468 29038468 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:29038468G>A ENST00000257189.4 + 4 360 c.277G>A c.(277-279)Gat>Aat p.D93N NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 93 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGTGGGAATCGATCAGCCGCC 0.443000 6 48 0 0 0.00116845 0 0 TEX37 200523 broad.mit.edu 37 2 88828788 88828788 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:88828788C>T ENST00000303254.3 + 4 481 c.339C>T c.(337-339)tcC>tcT p.S113S NM_152670.2 NP_689883.1 testis expressed 37 ATCCAGCTTCCCACGATCTGC 0.602000 10 78 0 0 0.000978159 0 0 SDK1 221935 broad.mit.edu 37 7 4188922 4188922 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:4188922G>A ENST00000404826.2 + 30 4591 c.4452G>A c.(4450-4452)ctG>ctA p.L1484L SDK1_ENST00000389531.3_Silent_p.L1484L NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1484 Fibronectin type-III 9. 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) GAGAGCTCCTGGTGCCCCAGG 0.667000 7 26 0 0 0.000274275 0 0 TACC2 10579 broad.mit.edu 37 10 123843518 123843518 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:123843518G>T ENST00000369005.1 + 4 1843 c.1503G>T c.(1501-1503)ttG>ttT p.L501F TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.L501F|TACC2_ENST00000515603.1_Missense_Mutation_p.L501F|TACC2_ENST00000515273.1_Missense_Mutation_p.L501F|TACC2_ENST00000334433.3_Missense_Mutation_p.L501F NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 501 Pro-rich. 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) GAGAGCACTTGAACACGGAGC 0.602000 17 63 2.48551e-13 1.11451e-12 0.000566183 1 0 CDKN1C 1028 broad.mit.edu 37 11 2905985 2905985 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:2905985C>T ENST00000414822.3 - 1 1126 c.735G>A c.(733-735)ggG>ggA p.G245G CDKN1C_ENST00000313407.6_Silent_p.G234G|CDKN1C_ENST00000380725.1_Intron|CDKN1C_ENST00000440480.2_Silent_p.G234G|CDKN1C_ENST00000430149.2_Silent_p.G245G NM_000076.2 NP_000067.1 P49918 CDN1C_HUMAN cyclin-dependent kinase inhibitor 1C (p57, Kip2) 245 cell cycle arrest|G1 phase of mitotic cell cycle|negative regulation of epithelial cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding central_nervous_system(1)|lung(1) 2 all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) GTCCCGAAATCCCCGAGTGCA 0.761000 54 312 0 0 0.000781405 0 0 BTBD11 121551 broad.mit.edu 37 12 108008871 108008871 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:108008871C>T ENST00000280758.5 + 7 2461 c.1933C>T c.(1933-1935)Cac>Tac p.H645Y BTBD11_ENST00000357167.4_Missense_Mutation_p.H182Y|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.H645Y|BTBD11_ENST00000420571.2_Missense_Mutation_p.H645Y NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 645 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TCCATCCGTCCACCCCGAGAC 0.413000 31 43 0 0 0.000692331 0 0 PYGO2 90780 broad.mit.edu 37 1 154932030 154932030 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:154932030G>A ENST00000368457.2 - 3 617 c.446C>T c.(445-447)cCc>cTc p.P149L PYGO2_ENST00000368456.1_Missense_Mutation_p.P112L NM_138300.3 NP_612157.1 Q9BRQ0 PYGO2_HUMAN pygopus family PHD finger 2 149 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 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) AGGACCCTGGGGGGGCATGTT 0.627000 24 82 0 0 0.000720815 0 0 WNT3 7473 broad.mit.edu 37 17 44845715 44845715 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:44845715G>A ENST00000225512.5 - 4 1201 c.1039C>T c.(1039-1041)Cgc>Tgc p.R347C NM_030753.4 NP_110380.1 P56703 WNT3_HUMAN wingless-type MMTV integration site family, member 3 347 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) TCGTAGATGCGAATACACTCC 0.622000 13 35 0 0 0.000219431 0 0 ATRN 8455 broad.mit.edu 37 20 3565495 3565495 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:3565495G>A ENST00000262919.5 + 18 3220 c.3152G>A c.(3151-3153)aGc>aAc p.S1051N ATRN_ENST00000446916.2_Missense_Mutation_p.S1051N NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1051 PSI 4. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 CTAGAGGACAGCAGATACAAC 0.433000 22 65 0 0 0.000586117 0 0 MARC1 64757 broad.mit.edu 37 1 220970134 220970134 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:220970134G>A ENST00000366910.5 + 3 785 c.599G>A c.(598-600)cGa>cAa p.R200Q MARC1_ENST00000496110.1_3'UTR NM_022746.3 NP_073583.3 Q5VT66 MOSC1_HUMAN mitochondrial amidoxime reducing component 1 200 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding GACTTGTTCCGACCCAAGGAC 0.577000 6 7 0 0 0.00116845 0 0 ITGAX 3687 broad.mit.edu 37 16 31382509 31382509 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:31382509G>A ENST00000268296.4 + 15 1936 c.1815G>A c.(1813-1815)ggG>ggA p.G605G ITGAX_ENST00000562522.1_Silent_p.G605G NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 605 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 TGGCTGTGGGGGCCCGGGGCC 0.662000 24 28 0 0 0.000586117 0 0 PRKG2 5593 broad.mit.edu 37 4 82064053 82064053 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:82064053C>T ENST00000395578.1 - 11 1418 c.1302G>A c.(1300-1302)atG>atA p.M434I PRKG2_ENST00000418486.2_Missense_Mutation_p.M434I|PRKG2_ENST00000545647.1_Missense_Mutation_p.M14I|PRKG2_ENST00000264399.1_Missense_Mutation_p.M434I|PRKG2_ENST00000509169.1_5'UTR Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 434 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 TCAGCTGAATCATTTCCAGAG 0.468000 18 72 0 0 0.000566183 0 0 ANK3 288 broad.mit.edu 37 10 61830130 61830130 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:61830130G>A ENST00000280772.1 - 37 10700 c.10509C>T c.(10507-10509)ttC>ttT p.F3503F ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3503 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 CTTCCAGTGTGAAGAACTGGG 0.433000 6 47 0 0 0.00198382 0 0 KCNB1 3745 broad.mit.edu 37 20 47990589 47990589 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:47990589G>A ENST00000371741.4 - 2 1674 c.1508C>T c.(1507-1509)tCc>tTc p.S503F NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 503 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGTTTCAAAGGACTTACTTGA 0.428000 66 157 0 0 0.000781405 0 0 C8orf47 203111 broad.mit.edu 37 8 99102183 99102183 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:99102183G>A ENST00000318528.3 + 2 1297 c.938G>A c.(937-939)cGa>cAa p.R313Q C8orf47_ENST00000545282.1_Intron NM_173549.2 NP_775820.2 Q6P6B1 CH047_HUMAN chromosome 8 open reading frame 47 313 Glu-rich. p.R313Q(2) kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) CATCCAGCACGAAATGTAGAG 0.438000 19 45 0 0 0.00188189 0 0 TTN 7273 broad.mit.edu 37 2 179612026 179612026 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179612026T>A ENST00000360870.5 - 46 15323 c.15101A>T c.(15100-15102)gAa>gTa p.E5034V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1138 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) TTCAGCAACTTCCCCTAAAGG 0.433000 9 14 0 0 0.000978159 0 0 HRNR 388697 broad.mit.edu 37 1 152188457 152188457 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:152188457C>T ENST00000368801.2 - 3 5723 c.5648G>A c.(5647-5649)gGt>gAt p.G1883D FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1883 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) CTGAGTGTAACCAGAGGACTG 0.552000 74 1842 0 0 0.00178596 0 0 TBC1D12 23232 broad.mit.edu 37 10 96291080 96291080 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:96291080G>A ENST00000225235.4 + 12 2232 c.2122G>A c.(2122-2124)Gaa>Aaa p.E708K TBC1D12_ENST00000485048.1_3'UTR NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 708 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCGATTATATGAAGATATTCT 0.393000 12 74 0 0 0.000978159 0 0 DARC 2532 broad.mit.edu 37 1 159176211 159176211 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:159176211C>T ENST00000537147.1 + 3 1825 c.982C>T c.(982-984)Cat>Tat p.H328Y DARC_ENST00000368121.2_Missense_Mutation_p.H330Y|DARC_ENST00000368122.2_Missense_Mutation_p.H328Y Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 328 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) ATGGTCTTCTCATCTGGACAC 0.537000 109 260 0 0 0.000781405 0 0 NRK 203447 broad.mit.edu 37 X 105190359 105190359 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:105190359C>T ENST00000428173.2 + 26 4562 c.4259C>T c.(4258-4260)tCt>tTt p.S1420F NRK_ENST00000243300.9_Missense_Mutation_p.S1419F Q7Z2Y5 NRK_HUMAN Nik related kinase 1419 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GCTATTGGTTCTGAAAAAAGA 0.393000 HNSCC(51;0.14) 9 21 0 0 0.000274275 0 0 LRP2 4036 broad.mit.edu 37 2 170037990 170037990 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:170037990G>A ENST00000263816.3 - 52 10422 c.10137C>T c.(10135-10137)ctC>ctT p.L3379L LRP2_ENST00000461418.1_5'UTR NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3379 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTGCCCAGTAGAGTAGATCAT 0.418000 18 47 0 0 0.00188189 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37433934 37433934 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:37433934C>T ENST00000374660.1 + 8 1336 c.1237C>T c.(1237-1239)Cca>Tca p.P413S ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P413S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P413S Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 469 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 TCAGAGGTTCCCATCAGAATC 0.249000 29 73 0 0 0.000814825 0 0 COLGALT1 79709 broad.mit.edu 37 19 17690300 17690300 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:17690300C>T ENST00000252599.4 + 10 1396 c.1276C>T c.(1276-1278)Cgg>Tgg p.R426W NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 GGTGGTGGACCGGGGGCTGCA 0.562000 42 99 0 0 0.000589545 0 0 C3 718 broad.mit.edu 37 19 6684620 6684620 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:6684620G>A ENST00000245907.6 - 32 4163 c.4071C>T c.(4069-4071)acC>acT p.T1357T NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1357 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ATTTATTACAGGTGAGTTGAT 0.483000 37 162 0 0 0.000781405 0 0 COL3A1 1281 broad.mit.edu 37 2 189856222 189856222 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:189856222G>A ENST00000304636.3 + 12 1032 c.862G>A c.(862-864)Ggt>Agt p.G288S COL3A1_ENST00000317840.5_Missense_Mutation_p.G288S NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 288 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) GGGTGAAAATGGTCTTCCAGG 0.279000 11 21 0 0 0.000308642 0 0 TRIML2 205860 broad.mit.edu 37 4 189012597 189012597 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:189012597C>T ENST00000512729.1 - 7 1468 c.1094G>A c.(1093-1095)gGa>gAa p.G365E TRIML2_ENST00000326754.3_Missense_Mutation_p.G390E NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 365 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) ACTTGTGTCTCCATTTGGGAT 0.463000 21 74 0 0 0.000720815 0 0 SLC9A9 285195 broad.mit.edu 37 3 143513894 143513894 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:143513894G>A ENST00000316549.6 - 4 690 c.482C>T c.(481-483)tCt>tTt p.S161F NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 161 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 CGTTAAAATAGATCCTAAGTT 0.373000 8 50 0 0 0.000442599 0 0 NEB 4703 broad.mit.edu 37 2 152529026 152529026 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:152529026C>T ENST00000397345.3 - 37 4358 c.4156G>A c.(4156-4158)Gac>Aac p.D1386N NEB_ENST00000172853.10_Missense_Mutation_p.D1386N|NEB_ENST00000409198.1_Missense_Mutation_p.D1386N|NEB_ENST00000603639.1_Missense_Mutation_p.D1386N|NEB_ENST00000427231.2_Missense_Mutation_p.D1386N|NEB_ENST00000604864.1_Missense_Mutation_p.D1386N NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1386 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) CTAACCATGTCCCCAGGGGTA 0.473000 14 55 0 0 0.00074312 0 0 MPG 4350 broad.mit.edu 37 16 135716 135716 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:135716C>T ENST00000219431.4 + 5 1068 c.837C>T c.(835-837)gtC>gtT p.V279V MPG_ENST00000397817.1_Silent_p.V262V NM_002434.3 NP_002425.2 P29372 3MG_HUMAN N-methylpurine-DNA glycosylase 279 depurination|DNA dealkylation involved in DNA repair nucleoplasm alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) GCTTCTATGTCCGGGGCAGCC 0.627000 Base excision repair (BER), DNA glycosylases 15 23 0 0 0.00074312 0 0 COL8A1 1295 broad.mit.edu 37 3 99513116 99513116 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:99513116G>A ENST00000261037.3 + 5 751 c.371G>A c.(370-372)gGa>gAa p.G124E COL8A1_ENST00000273342.4_Missense_Mutation_p.G124E NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 124 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 GGTCCCCGTGGAGAGCCTGGC 0.532000 10 24 0 0 0.00136819 0 0 MUC16 94025 broad.mit.edu 37 19 9076674 9076674 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9076674G>A ENST00000397910.4 - 3 10975 c.10772C>T c.(10771-10773)tCc>tTc p.S3591F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3592 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S3591Y(2) 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 GACAGTCCAGGAATCTGATGC 0.483000 32 73 0 0 0.000491102 0 0 EXPH5 23086 broad.mit.edu 37 11 108383740 108383740 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:108383740C>T ENST00000265843.4 - 6 2604 c.2494G>A c.(2494-2496)Gaa>Aaa p.E832K EXPH5_ENST00000525344.1_Missense_Mutation_p.E825K|EXPH5_ENST00000443411.1_Missense_Mutation_p.E644K|EXPH5_ENST00000428840.1_Missense_Mutation_p.E756K NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 832 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ACAGTTAATTCCTGGTGACAA 0.388000 40 72 0 0 0.00195071 0 0 NF1 4763 broad.mit.edu 37 17 29550551 29550551 + Nonsense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:29550551T>A ENST00000358273.4 + 16 2194 c.1811T>A c.(1810-1812)tTg>tAg p.L604* NF1_ENST00000356175.3_Nonsense_Mutation_p.L604* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 604 L -> V (in NF1). 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) CGGGAAATATTGATCTGCAGG 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) 15 29 0 0 0.000566183 0 0 NBPF22P 285622 broad.mit.edu 37 5 85578690 85578690 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:85578690G>A ENST00000590707.1 + 0 413 NR_003719.2 CAGCAGTTCCGAGACCTCAAA 0.468000 6 13 0 0 0.00116845 0 0 MGAM 8972 broad.mit.edu 37 7 141752693 141752693 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:141752693C>T ENST00000475668.2 + 26 3122 c.3068C>T c.(3067-3069)tCt>tTt p.S1023F MGAM_ENST00000549489.2_Missense_Mutation_p.S1023F O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1023 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) TCCTTAAAGTCTTCCGTTTAT 0.463000 33 62 0 0 0.00058488 0 0 OR6C2 341416 broad.mit.edu 37 12 55846846 55846846 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:55846846G>A ENST00000322678.1 + 1 849 c.849G>A c.(847-849)ttG>ttA p.L283L RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 283 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 CACCCTTGTTGAACCCCTTCA 0.408000 12 25 0 0 0.000978159 0 0 TCERG1 10915 broad.mit.edu 37 5 145843255 145843255 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:145843255C>T ENST00000296702.5 + 5 1072 c.1034C>T c.(1033-1035)cCt>cTt p.P345L TCERG1_ENST00000394421.2_Missense_Mutation_p.P345L NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 345 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGCTGTTCCTCATTCAGTA 0.532000 16 101 0 0 0.00152264 0 0 CCDC18 343099 broad.mit.edu 37 1 93720073 93720073 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:93720073C>T ENST00000343253.7 + 24 3743 c.3241C>T c.(3241-3243)Cga>Tga p.R1081* CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.R1200*|CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.R1082* Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 1081 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) AGAACAGCTTCGAGAAAAAGA 0.284000 45 55 0 0 0.000509022 0 0 SLAIN2 57606 broad.mit.edu 37 4 48422161 48422161 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:48422161C>T ENST00000264313.6 + 7 1798 c.1380C>T c.(1378-1380)ttC>ttT p.F460F SLAIN2_ENST00000512093.1_Silent_p.F293F NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 460 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 CAGGCAAATTCCGTTCCCCTG 0.428000 5 41 0 0 0.00198382 0 0 OR5H14 403273 broad.mit.edu 37 3 97868593 97868593 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:97868593C>T ENST00000437310.1 + 1 424 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GGCATATGATCGCTATGTAGC 0.403000 10 101 0 0 0.000442599 0 0 STOML3 161003 broad.mit.edu 37 13 39564817 39564817 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:39564817C>T ENST00000379631.4 - 1 386 c.42G>A c.(40-42)gaG>gaA p.E14E STOML3_ENST00000423210.1_5'UTR NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 14 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) CCACGAAATTCTCTTTATCTT 0.378000 16 56 0 0 0.00074312 0 0 FCER1A 2205 broad.mit.edu 37 1 159273877 159273877 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:159273877A>T ENST00000368115.1 + 4 335 c.236A>T c.(235-237)aAt>aTt p.N79I FCER1A_ENST00000368114.1_Missense_Mutation_p.N46I NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 79 Ig-like 1. 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) TCAAGTTTGAATATTGTGAAT 0.388000 19 47 0 0 0.00188189 0 0 CRB2 286204 broad.mit.edu 37 9 126132638 126132638 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:126132638G>A ENST00000373631.3 + 7 1307 c.1306G>A c.(1306-1308)Ggc>Agc p.G436S CRB2_ENST00000359999.3_Missense_Mutation_p.G436S|CRB2_ENST00000373629.2_Missense_Mutation_p.G104S NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 436 EGF-like 9.|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 ACCGTTCTGTGGCCAGAATAC 0.617000 26 37 0 0 0.000692331 0 0 PKD1L2 114780 broad.mit.edu 37 16 81145960 81145960 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:81145960C>T ENST00000533478.1 - 0 4846 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTGCTGCTGTCTCACTGAAGC 0.517000 18 22 0 0 0.00152264 0 0 KCNIP2 30819 broad.mit.edu 37 10 103587676 103587676 + Silent SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:103587676G>T ENST00000358038.3 - 7 969 c.618C>A c.(616-618)gcC>gcA p.A206A KCNIP2_ENST00000356640.2_Silent_p.A224A|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000353068.3_Silent_p.A181A|KCNIP2_ENST00000343195.4_Silent_p.A174A|KCNIP2_ENST00000370046.1_Silent_p.A138A|KCNIP2_ENST00000461105.1_Silent_p.A239A|KCNIP2_ENST00000348850.5_Silent_p.A179A NM_173192.2|NM_173193.2|NM_173195.2 NP_775284.1|NP_775285.1|NP_775287.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 224 EF-hand 3. clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) GTTCCCTTGGGGCCTCCTCCC 0.552000 7 83 2.17888e-05 9.70296e-05 0.000442599 1 0 PDZD4 57595 broad.mit.edu 37 X 153069158 153069158 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:153069158G>A ENST00000164640.4 - 8 2151 c.1960C>T c.(1960-1962)Cgg>Tgg p.R654W PDZD4_ENST00000393758.2_Missense_Mutation_p.R579W|PDZD4_ENST00000544474.1_Missense_Mutation_p.R545W NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 654 cell cortex p.R654W(2) breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCTCCTCCCGGATCTTCAGG 0.652000 25 40 0 0 0.000720815 0 0 SLC5A5 6528 broad.mit.edu 37 19 18001725 18001725 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:18001725G>A ENST00000222248.3 + 14 2029 c.1682G>A c.(1681-1683)gGa>gAa p.G561E NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 561 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 p.G561E(2) 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 CTGGCCCCGGGATTGTTGTGG 0.602000 60 116 0 0 0.000781405 0 0 NYAP2 57624 broad.mit.edu 37 2 226447449 226447449 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:226447449C>T ENST00000272907.6 + 4 1729 c.1316C>T c.(1315-1317)cCc>cTc p.P439L NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 439 Pro-rich. TCTCCCTCCCCCGTCAGCATG 0.642000 9 21 0 0 0.000442599 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26873424 26873424 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:26873424C>T ENST00000374168.2 + 3 329 c.175C>T c.(175-177)Cca>Tca p.P59S RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.P59S|RPS6KA1_ENST00000526792.1_5'UTR|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.P43S|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.P68S NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 59 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) GAAGGCTGATCCATCCCATTT 0.562000 34 85 0 0 0.000953801 0 0 FOSL2 2355 broad.mit.edu 37 2 28634933 28634933 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:28634933C>T ENST00000264716.4 + 4 1462 c.599C>T c.(598-600)tCg>tTg p.S200L FOSL2_ENST00000545753.1_Missense_Mutation_p.S161L|FOSL2_ENST00000379619.1_Missense_Mutation_p.S192L NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 200 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) GAGCGCCGATCGCCCCCAGCC 0.642000 24 61 0 0 0.00106085 0 0 ADAM7 8756 broad.mit.edu 37 8 24333949 24333949 + Missense_Mutation SNP C C T rs148539948 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:24333949C>T ENST00000175238.6 + 8 720 c.637C>T c.(637-639)Cgc>Tgc p.R213C ADAM7_ENST00000380789.1_Missense_Mutation_p.R213C|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 213 Peptidase M12B. 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) tttCCAGTATCGCAGAAATGG 0.299000 7 33 0 0 0.00198382 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073359 17073359 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:17073359C>T ENST00000359963.3 - 1 341 c.82G>A c.(82-84)Gag>Aag p.E28K NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 28 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GGCTCCTCCTCTTCTGGACTC 0.657000 25 65 0 0 0.000878237 0 0 LRP2 4036 broad.mit.edu 37 2 169995847 169995847 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:169995847G>A ENST00000263816.3 - 74 13587 c.13302C>T c.(13300-13302)atC>atT p.I4434I NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4434 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CAATTACGACGATCAAGAGGA 0.507000 13 31 0 0 0.000422831 0 0 GORASP2 26003 broad.mit.edu 37 2 171822317 171822317 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:171822317T>C ENST00000234160.4 + 10 1851 c.1036T>C c.(1036-1038)Tcc>Ccc p.S346P GORASP2_ENST00000452526.2_Missense_Mutation_p.S358P|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 346 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 ACCTCTTCCTTCCATGCCTCC 0.517000 13 52 0 0 0.00229938 0 0 DCAF11 80344 broad.mit.edu 37 14 24587638 24587638 + Missense_Mutation SNP C C T rs151306695 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:24587638C>T ENST00000446197.3 + 7 1346 c.619C>T c.(619-621)Cgt>Tgt p.R207C DCAF11_ENST00000559115.1_Missense_Mutation_p.R207C|DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000396941.4_Missense_Mutation_p.R181C|DCAF11_ENST00000396936.1_Missense_Mutation_p.R107C NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 207 R -> H (in dbSNP:rs3825584). CUL4 RING ubiquitin ligase complex protein binding TGGCCGTTTCCGTAAATTCAA 0.488000 24 149 0 0 0.000720815 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173787010 173787010 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:173787010G>A ENST00000397081.3 + 6 662 c.517_splice c.e6-1 p.R173_splice RAPGEF4_ENST00000539331.1_Splice_Site_p.R20_splice|RAPGEF4_ENST00000538974.1_Splice_Site_p.R20_splice|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Splice_Site_p.R29_splice|RAPGEF4_ENST00000409036.1_Splice_Site_p.R173_splice|RAPGEF4_ENST00000264111.6_Intron|RAPGEF4_ENST00000540783.1_Splice_Site_p.R20_splice NM_007023.3 NP_008954.2 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 173 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) CTCCTTTAGGGATTCCTGACA 0.368000 73 244 0 0 0.000781405 0 0 ALKBH1 8846 broad.mit.edu 37 14 78170752 78170752 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:78170752G>A ENST00000216489.3 - 2 267 c.252C>T c.(250-252)ccC>ccT p.P84P ALKBH1_ENST00000554097.1_5'UTR NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 84 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.P84P(1) endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) ACTTGCTGACGGGCTGAAGAC 0.443000 21 124 0 0 0.00106085 0 0 TRIM72 493829 broad.mit.edu 37 16 31230790 31230790 + Nonsense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:31230790G>T ENST00000322122.3 + 4 951 c.667G>T c.(667-669)Gag>Tag p.E223* NM_001008274.3 NP_001008275.2 Q6ZMU5 TRI72_HUMAN tripartite motif containing 72 223 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 GCGGCAGATGGAGAAGGTCCT 0.677000 16 45 1.37285e-15 6.16303e-15 0.000422831 1 0 ZNF99 7652 broad.mit.edu 37 19 22941146 22941146 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:22941146G>A ENST00000397104.3 - 5 1291 c.1292C>T c.(1291-1293)tCa>tTa p.S431L ZNF99_ENST00000596209.1_Missense_Mutation_p.S522L 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) TCTAAGGGCTGAGAAATGCTT 0.348000 7 36 0 0 0.000673444 0 0 COL2A1 1280 broad.mit.edu 37 12 48374406 48374406 + Silent SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:48374406T>A ENST00000380518.3 - 39 2720 c.2556A>T c.(2554-2556)ggA>ggT p.G852G COL2A1_ENST00000337299.6_Silent_p.G783G|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 852 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GGCCGGCCTCTCCTTGCTCAC 0.617000 5 19 0 0 0.00116845 0 0 GOLGA7B 401647 broad.mit.edu 37 10 99619278 99619278 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:99619278G>A ENST00000370602.1 + 2 141 c.76G>A c.(76-78)Gac>Aac p.D26N NM_001010917.2 NP_001010917.1 Q2TAP0 GOG7B_HUMAN golgin A7 family, member B 26 Golgi membrane endometrium(1)|large_intestine(3)|prostate(1) 5 TATCCAGAGAGACTACAGCGA 0.582000 11 37 0 0 0.00185496 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19744528 19744528 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:19744528C>T ENST00000284885.3 - 6 679 c.646G>A c.(646-648)Gaa>Aaa p.E216K NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 216 LDL-receptor class A 1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TTATTGTCTTCGTCAGAACCA 0.443000 8 42 0 0 0.000978159 0 0 ZNF100 163227 broad.mit.edu 37 19 21910780 21910780 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:21910780G>A ENST00000358296.6 - 5 532 c.334C>T c.(334-336)Cat>Tat p.H112Y ZNF100_ENST00000305570.6_Missense_Mutation_p.H48Y NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 TGGGGAAAATGAGAACATATA 0.289000 8 27 0 0 0.000274275 0 0 TAS2R39 259285 broad.mit.edu 37 7 142881174 142881174 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:142881174G>A ENST00000446620.1 + 1 663 c.663G>A c.(661-663)ctG>ctA p.L221L NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 221 sensory perception of taste integral to membrane G-protein coupled receptor activity p.L221L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) TGACTCCTCTGATCATGTTCA 0.502000 13 60 0 0 0.00185496 0 0 GORASP2 26003 broad.mit.edu 37 2 171822316 171822316 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:171822316T>C ENST00000234160.4 + 10 1850 c.1035T>C c.(1033-1035)ccT>ccC p.P345P GORASP2_ENST00000452526.2_Silent_p.P357P|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 345 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 CACCTCTTCCTTCCATGCCTC 0.512000 11 52 0 0 0.00229938 0 0 OR56B4 196335 broad.mit.edu 37 11 6129845 6129845 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:6129845C>T ENST00000316529.3 + 1 932 c.837C>T c.(835-837)ttC>ttT p.F279F RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCCTGTGTTCCTTAATGTGC 0.512000 18 66 0 0 0.000566183 0 0 EFNB3 1949 broad.mit.edu 37 17 7611341 7611341 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:7611341C>T ENST00000226091.2 + 2 585 c.188C>T c.(187-189)cCc>cTc p.P63L NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 63 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) CTGCTCTGCCCCCGGGCCCGG 0.622000 44 50 0 0 0.00195071 0 0 MUC16 94025 broad.mit.edu 37 19 9076429 9076429 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9076429G>A ENST00000397910.4 - 3 11220 c.11017C>T c.(11017-11019)Ccc>Tcc p.P3673S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3674 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 GTTGAGATGGGAGTAGATGCA 0.458000 15 36 0 0 0.000566183 0 0 KCNK10 54207 broad.mit.edu 37 14 88729771 88729771 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:88729771C>T ENST00000340700.5 - 2 613 c.162G>A c.(160-162)agG>agA p.R54R KCNK10_ENST00000312350.5_Silent_p.R59R|KCNK10_ENST00000319231.5_Silent_p.R59R NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 54 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TGCCTTCCATCCTGGCTACCA 0.622000 27 88 0 0 0.00178596 0 0 FCGBP 8857 broad.mit.edu 37 19 40396005 40396005 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:40396005G>A ENST00000221347.6 - 15 7399 c.7392C>T c.(7390-7392)ttC>ttT p.F2464F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2464 VWFD 6. 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) GGCGGCCATCGAAGGTGGTGT 0.672000 16 69 0 0 0.000566183 0 0 DNAJB6 10049 broad.mit.edu 37 7 157175009 157175009 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:157175009C>T ENST00000262177.4 + 6 621 c.416C>T c.(415-417)tCg>tTg p.S139L DNAJB6_ENST00000429029.2_Missense_Mutation_p.S139L|DNAJB6_ENST00000452797.2_Missense_Mutation_p.S90L|DNAJB6_ENST00000443280.1_Intron NM_058246.3 NP_490647.1 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 139 Gly/Phe-rich.|Interaction with HSP70.|Interaction with KRT18. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) GGGACGGGGTCGTTTTTCTCT 0.423000 19 95 0 0 0.00152264 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835290 12835290 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:12835290C>T ENST00000357726.4 + 1 307 c.280C>T c.(280-282)Cgc>Tgc p.R94C NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 94 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCAGAAGGTTCGCCCCAGGTG 0.592000 23 60 0 0 0.000720815 0 0 SON 6651 broad.mit.edu 37 21 34926081 34926081 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:34926081C>T ENST00000356577.4 + 3 5019 c.4544C>T c.(4543-4545)gCt>gTt p.A1515V SON_ENST00000290239.6_Missense_Mutation_p.A1515V|SON_ENST00000300278.4_Missense_Mutation_p.A1515V|SON_ENST00000381679.4_Missense_Mutation_p.A1515V|SON_ENST00000381692.2_Intron NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 1515 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 GAACCACATGCTGAGGAACAC 0.353000 8 38 0 0 0.000157383 0 0 TRPM3 80036 broad.mit.edu 37 9 73477827 73477827 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:73477827G>A ENST00000377110.2 - 3 702 c.459C>T c.(457-459)gcC>gcT p.A153A TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000377111.2_Silent_p.A153A|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000357533.2_Silent_p.A155A|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000423814.3_Silent_p.A155A|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 153 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TGATTACCATGGCTTTGTTGG 0.468000 20 35 0 0 0.00047179 0 0 NR2C2AP 126382 broad.mit.edu 37 19 19313657 19313657 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:19313657C>T ENST00000331552.6 - 2 435 c.72G>A c.(70-72)caG>caA p.Q24Q NR2C2AP_ENST00000590907.2_Intron|NR2C2AP_ENST00000544883.1_Silent_p.Q24Q|NR2C2AP_ENST00000538165.2_Silent_p.Q24Q|NR2C2AP_ENST00000420605.2_Silent_p.Q24Q NM_176880.4 NP_795361.1 Q86WQ0 NR2CA_HUMAN nuclear receptor 2C2-associated protein 24 cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm breast(1)|cervix(1)|kidney(2)|ovary(1) 5 Epithelial(12;0.00235) TTTTTCCAAACTGCCGAGTGT 0.562000 24 97 0 0 0.00106085 0 0 KCNK10 54207 broad.mit.edu 37 14 88737108 88737108 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:88737108C>T ENST00000312350.5 - 1 147 c.26G>A c.(25-27)aGg>aAg p.R9K KCNK10_ENST00000340700.5_Intron|KCNK10_ENST00000319231.5_Intron NM_138318.2 NP_612191.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 0 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 gccttcagtcctgtccccctt 0.507000 35 132 0 0 0.00195071 0 0 FAM179B 23116 broad.mit.edu 37 14 45513937 45513937 + Missense_Mutation SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:45513937A>G ENST00000361462.2 + 13 4201 c.4018A>G c.(4018-4020)Aca>Gca p.T1340A FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.T1340A Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1340 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 GCTAGATACCACAGTAAAAGT 0.368000 10 56 0 0 0.00185496 0 0 BMP6 654 broad.mit.edu 37 6 7880438 7880438 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:7880438G>A ENST00000283147.6 + 7 1563 c.1404G>A c.(1402-1404)atG>atA p.M468I NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 468 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) TTCACCTTATGAACCCCGAGT 0.448000 55 90 0 0 0.000781405 0 0 DPPA4 55211 broad.mit.edu 37 3 109047753 109047753 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:109047753G>A ENST00000335658.6 - 6 916 c.862C>T c.(862-864)Ccc>Tcc p.P288S NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 288 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 ACACATTTGGGGCACAACATA 0.423000 7 60 0 0 0.000274275 0 0 SP5 389058 broad.mit.edu 37 2 171573029 171573029 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:171573029C>T ENST00000375281.3 + 2 474 c.312C>T c.(310-312)tcC>tcT p.S104S NM_001003845.2 NP_001003845.1 Q6BEB4 SP5_HUMAN Sp5 transcription factor 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|lung(1)|prostate(1) 5 TGCAGCCGTCCTTCGGGGCTG 0.711000 7 24 0 0 0.00198382 0 0 IGHV2-5 28457 broad.mit.edu 37 14 106494539 106494539 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:106494539G>A ENST00000390597.2 - 0 58 CACATGAAGGGATGGTCAGCA 0.537000 5 25 0 0 0.00116845 0 0 TTN 7273 broad.mit.edu 37 2 179604872 179604872 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179604872G>A ENST00000589042.1 - 48 13312 c.13088C>T c.(13087-13089)cCc>cTc p.P4363L TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4000L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.P4192L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4125L|TTN_ENST00000591111.1_Missense_Mutation_p.P4046L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4046 Ig-like 23. 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) TATTGCCACGGGCTCTCTTTT 0.448000 11 51 0 0 0.000978159 0 0 PRKDC 5591 broad.mit.edu 37 8 48701521 48701521 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:48701521G>A ENST00000314191.2 - 77 10901 c.10845C>T c.(10843-10845)gcC>gcT p.A3615A PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.A3615A NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3616 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGTCACCCAAGGCTGCATACA 0.438000 Non-homologous end-joining 16 59 0 0 0.000958276 0 0 ABCB5 340273 broad.mit.edu 37 7 20687646 20687646 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:20687646G>A ENST00000404938.2 + 11 1803 c.1151G>A c.(1150-1152)gGa>gAa p.G384E ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 568 ABC transmembrane type-1. 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 TCCATAGAAGGAACTGTGGAA 0.313000 5 47 0 0 0.000157383 0 0 SLC39A12 221074 broad.mit.edu 37 10 18270307 18270307 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:18270307G>A ENST00000377369.2 + 6 1264 c.991G>A c.(991-993)Gag>Aag p.E331K SLC39A12_ENST00000377374.4_Missense_Mutation_p.E331K|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E197K|SLC39A12_ENST00000377371.3_Missense_Mutation_p.E331K NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 331 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CATTTCTAAGGAGGACTTTAA 0.483000 20 39 0 0 0.00152264 0 0 ABCA13 154664 broad.mit.edu 37 7 48316016 48316016 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:48316016G>A ENST00000435803.1 + 17 6777 c.6753G>A c.(6751-6753)agG>agA p.R2251R NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2251 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 AAACTAGTAGGAAAACAGTTC 0.338000 6 23 0 0 0.00116845 0 0 DGKI 9162 broad.mit.edu 37 7 137206693 137206693 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:137206693G>A ENST00000453654.1 - 21 1806 c.1267C>T c.(1267-1269)Cgt>Tgt p.R423C DGKI_ENST00000288490.5_Missense_Mutation_p.R723C|DGKI_ENST00000446122.1_Missense_Mutation_p.R723C|DGKI_ENST00000424189.2_Missense_Mutation_p.R744C O75912 DGKI_HUMAN diacylglycerol kinase, iota 723 DAGKc. 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 ATCCTCAGACGATCTGGGACA 0.463000 4 10 0 0 0.00116845 0 0 SCN10A 6336 broad.mit.edu 37 3 38739124 38739124 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:38739124G>A ENST00000449082.2 - 27 5586 c.5587C>T c.(5587-5589)Cgg>Tgg p.R1863W NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1863 IQ. sensory perception voltage-gated sodium channel complex p.R1863W(1) 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) ACATAGCTCCGATAGGCCTTT 0.488000 20 59 0 0 0.00188189 0 0 CHAT 1103 broad.mit.edu 37 10 50854598 50854598 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:50854598C>T ENST00000395562.2 + 9 1382 c.913C>T c.(913-915)Ctt>Ttt p.L305F CHAT_ENST00000455728.2_Missense_Mutation_p.L269F|CHAT_ENST00000395559.2_Missense_Mutation_p.L269F|CHAT_ENST00000351556.3_Missense_Mutation_p.L269F|CHAT_ENST00000337653.2_Missense_Mutation_p.L387F|CHAT_ENST00000339797.1_Missense_Mutation_p.L269F NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 387 I -> T (in CMSEA; impaired activity; dbSNP:rs28929482). 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) CTGCATCTGCCTTGTATGCCT 0.647000 17 87 0 0 0.00121646 0 0 FCGR2A 2212 broad.mit.edu 37 1 161487906 161487906 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:161487906C>T ENST00000271450.6 + 7 960 c.922C>T c.(922-924)Cct>Tct p.P308S FCGR2A_ENST00000461298.1_Missense_Mutation_p.P43S|FCGR2A_ENST00000367972.4_Missense_Mutation_p.P307S|FCGR2A_ENST00000467525.1_3'UTR NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 308 integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCTGACTCTTCCTCCCAACGA 0.448000 18 78 0 0 0.00188189 0 0 ARID5A 10865 broad.mit.edu 37 2 97217942 97217942 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:97217942C>T ENST00000454558.2 + 7 2650 c.1473C>T c.(1471-1473)ttC>ttT p.F491F ARID5A_ENST00000357485.3_Silent_p.F559F Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 559 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 CAACGTCCTTCGACAGTGCCC 0.667000 38 116 0 0 0.00170553 0 0 ATXN2L 11273 broad.mit.edu 37 16 28842007 28842007 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:28842007C>T ENST00000336783.4 + 9 1273 c.1106C>T c.(1105-1107)tCt>tTt p.S369F ATXN2L_ENST00000564304.1_Missense_Mutation_p.S369F|ATXN2L_ENST00000395547.2_Missense_Mutation_p.S369F|ATXN2L_ENST00000382686.4_Missense_Mutation_p.S369F|ATXN2L_ENST00000340394.8_Missense_Mutation_p.S369F|ATXN2L_ENST00000325215.6_Missense_Mutation_p.S369F|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.S369F NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 369 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TGCAGCAGCTCTCGGGGCGGT 0.607000 14 39 0 0 0.000219431 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701811 56701811 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:56701811C>T ENST00000586855.2 - 5 1186 c.873G>A c.(871-873)ctG>ctA p.L291L ZSCAN5B_ENST00000358992.3_Silent_p.L291L A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 291 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGCTCAGATTCAGAGCATCTC 0.517000 47 97 0 0 0.000781405 0 0 CEACAM8 1088 broad.mit.edu 37 19 43093036 43093036 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:43093036G>A ENST00000244336.5 - 4 959 c.858C>T c.(856-858)atC>atT p.I286I CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 286 Ig-like C2-type 2. 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) TGATGTTGGGGATAAAGAGCT 0.498000 15 27 0 0 0.000219431 0 0 SLC6A6 6533 broad.mit.edu 37 3 14508159 14508159 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:14508159G>A ENST00000454876.2 + 7 1196 c.e7+1 SLC6A6_ENST00000360861.3_Splice_Site P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 GGACCCACAGGTACTGTGGGG 0.652000 28 90 0 0 0.000814825 0 0 TP53TG5 27296 broad.mit.edu 37 20 44005959 44005959 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:44005959C>T ENST00000372726.3 - 3 303 c.147G>A c.(145-147)ttG>ttA p.L49L SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Silent_p.L33L|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000494455.1_5'UTR NM_014477.2 NP_055292.1 Q9Y2B4 T53G5_HUMAN TP53 target 5 49 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 12 TGAGTAGCTTCAAGAGCGACA 0.507000 69 182 0 0 0.000781405 0 0 DNAH7 56171 broad.mit.edu 37 2 196722105 196722105 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:196722105C>T ENST00000312428.6 - 44 8510 c.8410G>A c.(8410-8412)Gat>Aat p.D2804N NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2804 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 ACTTACTTATCATATGAATCC 0.358000 21 35 0 0 0.000586117 0 0 APOBR 55911 broad.mit.edu 37 16 28507203 28507203 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:28507203G>A ENST00000564831.1 + 2 874 c.841G>A c.(841-843)Gag>Aag p.E281K APOBR_ENST00000431282.1_Missense_Mutation_p.E281K|APOBR_ENST00000328423.5_Missense_Mutation_p.E281K NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 281 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 CTTAGGCAGAGAGGAGGCCAG 0.612000 6 24 0 0 0.00198382 0 0 ZNF606 80095 broad.mit.edu 37 19 58491073 58491073 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:58491073G>A ENST00000341164.4 - 7 1595 c.975C>T c.(973-975)atC>atT p.I325I ZNF606_ENST00000536132.1_Silent_p.I235I NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 325 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) TCTGGTTAAAGATTTGATGGC 0.318000 32 55 0 0 0.00058488 0 0 MYH7 4625 broad.mit.edu 37 14 23886895 23886895 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:23886895C>T ENST00000355349.3 - 31 4332 c.4169_splice c.e31-1 p.K1390_splice NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1390 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) CCAGCTTCTTCCTGCCCAGGG 0.582000 6 19 0 0 0.00116845 0 0 BRINP1 1620 broad.mit.edu 37 9 121971167 121971167 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:121971167G>A ENST00000265922.3 - 7 1436 c.975C>T c.(973-975)atC>atT p.I325I NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 325 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 GGATGCTTCCGATGGTCAGGA 0.522000 22 43 0 0 0.00229938 0 0 PVRL1 5818 broad.mit.edu 37 11 119535808 119535808 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:119535808G>A ENST00000264025.3 - 6 1733 c.1203C>T c.(1201-1203)agC>agT p.S401S PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 401 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) TGCCTGCCTTGCTGTAGCCGT 0.627000 38 76 0 0 0.000589545 0 0 HRH1 3269 broad.mit.edu 37 3 11301279 11301279 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:11301279G>A ENST00000397056.1 + 3 747 c.556G>A c.(556-558)Gat>Aat p.D186N HRH1_ENST00000438284.2_Missense_Mutation_p.D186N|HRH1_ENST00000431010.2_Missense_Mutation_p.D186N NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 186 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) AGACTTCTATGATGTCACCTG 0.498000 53 114 0 0 0.000781405 0 0 CD300LF 146722 broad.mit.edu 37 17 72692343 72692343 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:72692343G>A ENST00000469092.1 - 5 745 c.469C>T c.(469-471)Ccc>Tcc p.P157S CD300LF_ENST00000361254.4_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Silent_p.S194S|CD300LF_ENST00000583937.1_Silent_p.S206S|CD300LF_ENST00000301573.9_Missense_Mutation_p.P207S|CD300LF_ENST00000343125.4_Missense_Mutation_p.P157S|CD300LF_ENST00000581500.1_Intron|CD300LF_ENST00000326165.6_Silent_p.S191S Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 0 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CCTGCTCTGGGGACATCCCGG 0.488000 36 69 0 0 0.00170553 0 0 GCOM1 145781 broad.mit.edu 37 15 57910262 57910262 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:57910262G>A ENST00000574161.1 + 3 313 c.194G>A c.(193-195)aGg>aAg p.R65K GCOM1_ENST00000380560.2_Missense_Mutation_p.R65K|MYZAP_ENST00000380565.4_Missense_Mutation_p.R65K|GCOM1_ENST00000380561.2_Missense_Mutation_p.R65K|GCOM1_ENST00000380569.2_Missense_Mutation_p.R65K|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Missense_Mutation_p.R65K|GCOM1_ENST00000572390.1_Missense_Mutation_p.R65K|GCOM1_ENST00000396180.1_Missense_Mutation_p.R65K|GCOM1_ENST00000380568.3_Missense_Mutation_p.R65K|GCOM1_ENST00000587652.1_Missense_Mutation_p.R65K NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 65 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 GAACCTACCAGGAAACTTCCT 0.423000 9 48 0 0 0.000673444 0 0 GPR158 57512 broad.mit.edu 37 10 25887976 25887976 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:25887976G>A ENST00000376351.3 + 11 3780 c.3421G>A c.(3421-3423)Gaa>Aaa p.E1141K GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1141 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AGGACACCAGGAAAAAAAGAC 0.453000 14 41 0 0 0.00185496 0 0 SHROOM2 357 broad.mit.edu 37 X 9900857 9900857 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:9900857C>T ENST00000380913.3 + 6 3624 c.3534C>T c.(3532-3534)ccC>ccT p.P1178P SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_Silent_p.P13P NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1178 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) AGTTCGCCCCCCAGAAACTGA 0.632000 6 16 0 0 0.00198382 0 0 IGKV2-24 28923 broad.mit.edu 37 2 89476122 89476122 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:89476122C>T ENST00000484817.1 - 0 79 CCCACTGGATCCTGAAATAAT 0.408000 9 49 0 0 0.000274275 0 0 IVL 3713 broad.mit.edu 37 1 152883960 152883960 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:152883960G>A ENST00000368764.3 + 2 1751 c.1687G>A c.(1687-1689)Gga>Aga p.G563R IVL_ENST00000392667.2_Missense_Mutation_p.G417R P07476 INVO_HUMAN involucrin 563 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCCACAAAGGGAGAAGTATT 0.582000 13 47 0 0 0.000422831 0 0 MC5R 4161 broad.mit.edu 37 18 13826292 13826292 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:13826292C>T ENST00000324750.3 + 1 750 c.528C>T c.(526-528)gtC>gtT p.V176V NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 176 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GCGGCATTGTCTTCATCCTGT 0.562000 80 418 0 0 0.000781405 0 0 SLC9A4 389015 broad.mit.edu 37 2 103095638 103095638 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:103095638C>T ENST00000295269.4 + 2 1054 c.597C>T c.(595-597)ttC>ttT p.F199F NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 199 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 ACCTGCTGTTCGGCAGCCTGA 0.617000 7 21 0 0 0.00198382 0 0 ERCC3 2071 broad.mit.edu 37 2 128047394 128047394 + Silent SNP G G A rs114994654 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:128047394G>A ENST00000493187.2 - 5 799 c.336C>T c.(334-336)ttC>ttT p.F112F ERCC3_ENST00000285398.2_Silent_p.F176F P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 176 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|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 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) AACTTTCAACGAAGTATCTGC 0.512000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 39 109 0 0 0.000781405 0 0 IQCF3 401067 broad.mit.edu 37 3 51864774 51864774 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:51864774C>T ENST00000456080.1 + 8 1587 c.422C>T c.(421-423)cCt>cTt p.P141L IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Missense_Mutation_p.P141L|IQCF3_ENST00000440739.2_Missense_Mutation_p.P141L|IQCF3_ENST00000437810.2_Missense_Mutation_p.P141L|IQCF3_ENST00000444293.1_3'UTR P0C7M6 IQCF3_HUMAN IQ motif containing F3 141 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TATGCAATCCCTTCAAAGCAG 0.488000 22 46 0 0 0.000720815 0 0 HSPG2 3339 broad.mit.edu 37 1 22181372 22181372 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:22181372G>A ENST00000374695.3 - 48 6181 c.6102C>T c.(6100-6102)gcC>gcT p.A2034A HSPG2_ENST00000430507.1_5'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2034 Ig-like C2-type 5. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TCCGGGCCTGGGCAGTGCCTG 0.657000 12 36 0 0 0.000422831 0 0 SLIT2 9353 broad.mit.edu 37 4 20620397 20620397 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:20620397C>T ENST00000504154.1 + 37 4607 c.4355C>T c.(4354-4356)tCt>tTt p.S1452F SLIT2_ENST00000503823.1_Missense_Mutation_p.S1444F|SLIT2_ENST00000273739.5_Missense_Mutation_p.S1465F|SLIT2_ENST00000503837.1_Missense_Mutation_p.S1448F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1452 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CTAGAAATCTCTTGTCGAGGG 0.428000 16 57 0 0 0.000958276 0 0 KIAA0391 9692 broad.mit.edu 37 14 35736016 35736016 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:35736016C>T ENST00000557565.1 + 6 1740 c.1359C>T c.(1357-1359)tcC>tcT p.S453S KIAA0391_ENST00000534898.4_Silent_p.S453S|KIAA0391_ENST00000605870.1_Silent_p.S81S|KIAA0391_ENST00000604948.1_Silent_p.S358S|KIAA0391_ENST00000603544.1_Silent_p.S437S|KIAA0391_ENST00000321130.10_Silent_p.S437S|KIAA0391_ENST00000250377.7_Silent_p.S358S O15091 MRRP3_HUMAN KIAA0391 453 S -> F (in Ref. 3; BAG64540). tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) GACGGAGTTCCCAGTGGAGTC 0.473000 21 99 0 0 0.000375601 0 0 JAK3 3718 broad.mit.edu 37 19 17948773 17948773 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:17948773C>T ENST00000458235.1 - 12 1768 c.1669G>A c.(1669-1671)Gtc>Atc p.V557I JAK3_ENST00000534444.1_Missense_Mutation_p.V557I|JAK3_ENST00000527670.1_Missense_Mutation_p.V557I NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 557 Protein kinase 1. 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 GCATCCATGACCTTCAGCAGC 0.582000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 105 246 0 0 0.000781405 0 0 DMRT2 10655 broad.mit.edu 37 9 1057218 1057218 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:1057218C>T ENST00000382251.3 + 5 1960 c.1631C>T c.(1630-1632)tCt>tTt p.S544F DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.S544F|DMRT2_ENST00000302441.6_Missense_Mutation_p.S544F|DMRT2_ENST00000382255.3_3'UTR Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 2 544 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) CTGTCATTTTCTGTTGAGTCT 0.403000 40 129 0 0 0.000589545 0 0 SLC25A11 8402 broad.mit.edu 37 17 4841656 4841656 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:4841656G>A ENST00000225665.7 - 5 955 c.615C>T c.(613-615)tcC>tcT p.S205S SLC25A11_ENST00000544061.2_Silent_p.S154S NM_001165417.1|NM_003562.4 NP_001158889.1|NP_003553.2 Q02978 M2OM_HUMAN solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 205 gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 10 AGAACTGCTTGGATTGGGAGT 0.627000 34 43 0 0 0.00195071 0 0 CRTC2 200186 broad.mit.edu 37 1 153921092 153921092 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:153921092G>A ENST00000368633.1 - 13 1830 c.1703C>T c.(1702-1704)tCa>tTa p.S568L CRTC2_ENST00000368630.3_Missense_Mutation_p.S248L NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 568 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) CAGGCTGGCTGATGGGCTCTC 0.537000 6 101 0 0 0.000442599 0 0 SCARB1 949 broad.mit.edu 37 12 125279809 125279809 + Silent SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:125279809C>A ENST00000339570.5 - 9 1330 c.1134G>T c.(1132-1134)acG>acT p.T378T SCARB1_ENST00000540495.1_Silent_p.T341T|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Silent_p.T324T|SCARB1_ENST00000415380.2_Silent_p.T378T|SCARB1_ENST00000376788.1_Silent_p.T278T|SCARB1_ENST00000546215.1_Silent_p.T378T|SCARB1_ENST00000541205.1_Silent_p.T337T|SCARB1_ENST00000261693.6_Silent_p.T378T NM_001082959.1 NP_001076428.1 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 378 adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) TGGGGATTCCCGTGACCTGCG 0.602000 5 67 0.00116845 0.00515798 0.00116845 1 0 SESN2 83667 broad.mit.edu 37 1 28599131 28599131 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:28599131G>A ENST00000253063.3 + 5 898 c.577G>A c.(577-579)Gag>Aag p.E193K NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 193 cell cycle arrest cytoplasm|nucleus p.E193K(1) cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) GTCCCTGGCCGAGCTCATTCA 0.642000 28 102 0 0 0.000814825 0 0 GRIA1 2890 broad.mit.edu 37 5 152870511 152870511 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:152870511C>T ENST00000285900.5 + 1 406 c.63C>T c.(61-63)ttC>ttT p.F21F GRIA1_ENST00000340592.5_Silent_p.F21F|GRIA1_ENST00000518142.1_Silent_p.F21F|GRIA1_ENST00000518862.1_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 21 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) GTGCCAATTTCCCCAACAATA 0.532000 19 99 0 0 0.000958276 0 0 MET 4233 broad.mit.edu 37 7 116409747 116409747 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:116409747G>A ENST00000397752.3 + 12 2832 c.2632G>A c.(2632-2634)Gga>Aga p.G878R MET_ENST00000318493.6_Missense_Mutation_p.G896R NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 878 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) GTTAAAAGTTGGAAATAAGAG 0.378000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 10 54 0 0 0.000978159 0 0 PDGFRB 5159 broad.mit.edu 37 5 149514562 149514562 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:149514562G>T ENST00000261799.4 - 4 851 c.382C>A c.(382-384)Ctc>Atc p.L128I NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 128 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|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 cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TCATTAGGGAGGAAGCCCACG 0.522000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 8 52 0.000274275 0.00121629 0.000274275 1 0 PRAMEF4 400735 broad.mit.edu 37 1 12939636 12939636 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:12939636C>T ENST00000235349.5 - 4 1236 c.1166G>A c.(1165-1167)gGa>gAa p.G389E NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 389 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GATGGGATTTCCACAGAAGCT 0.522000 62 279 0 0 0.000781405 0 0 SCN8A 6334 broad.mit.edu 37 12 52100395 52100395 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:52100395G>A ENST00000354534.5 + 11 1709 c.1531G>A c.(1531-1533)Gat>Aat p.D511N SCN8A_ENST00000550891.1_Missense_Mutation_p.D511N|SCN8A_ENST00000545061.1_Missense_Mutation_p.D511N NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 511 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) GGAGAAAGGGGATCCCGAGAA 0.448000 3 6 0 0 0.00024832 0 0 BAZ1B 9031 broad.mit.edu 37 7 72856562 72856562 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:72856562G>A ENST00000339594.4 - 19 4754 c.4416C>T c.(4414-4416)gcC>gcT p.A1472A BAZ1B_ENST00000404251.1_Silent_p.A1472A NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1472 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) ACTGTCCAACGGCCTCTGGCT 0.587000 89 202 0 0 0.000781405 0 0 CDH13 1012 broad.mit.edu 37 16 83520204 83520204 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:83520204G>A ENST00000566620.1 + 7 1194 c.904G>A c.(904-906)Gat>Aat p.D302N CDH13_ENST00000268613.10_Missense_Mutation_p.D349N|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.D263N NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 302 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding p.D302N(1) large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GTTCTACATCGATCCTGAGAA 0.488000 24 29 0 0 0.00178596 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587261 42587261 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:42587261G>A ENST00000289957.2 + 5 939 c.811G>A c.(811-813)Gtc>Atc p.V271I NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 271 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) ATCCACATCGGTCTTGGTTTC 0.423000 37 128 0 0 0.00111076 0 0 NPY1R 4886 broad.mit.edu 37 4 164246712 164246712 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:164246712G>A ENST00000296533.2 - 3 1429 c.898C>T c.(898-900)Ctg>Ttg p.L300L NPY1R_ENST00000509586.1_Silent_p.L57L NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 300 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AGGAATAACAGATTGTGGTTG 0.438000 12 39 0 0 0.000219431 0 0 NPY5R 4889 broad.mit.edu 37 4 164272660 164272660 + Nonsense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:164272660T>A ENST00000515560.1 + 4 2757 c.1235T>A c.(1234-1236)tTg>tAg p.L412* NPY5R_ENST00000506953.1_Nonsense_Mutation_p.L412*|NPY5R_ENST00000338566.3_Nonsense_Mutation_p.L412* Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 412 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane p.L412*(1) 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) ATTTGTCATTTGTTGGGCATG 0.348000 23 126 0 0 0.000375601 0 0 BAG3 9531 broad.mit.edu 37 10 121431837 121431837 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:121431837G>A ENST00000369085.3 + 3 884 c.578G>A c.(577-579)aGg>aAg p.R193K NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 193 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) TCCTCCGGCAGGAGCAGCCTG 0.642000 7 25 0 0 0.00198382 0 0 PARD3B 117583 broad.mit.edu 37 2 206166532 206166532 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:206166532G>A ENST00000462231.1 + 19 2869 c.2709G>A c.(2707-2709)caG>caA p.Q903Q PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000351153.1_Intron Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 0 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) CTCGTCTTCAGCCAAATGCAT 0.458000 17 32 0 0 0.000566183 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454061 114454061 + Missense_Mutation SNP C C T rs145569979 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:114454061C>T ENST00000369563.3 + 4 1293 c.847C>T c.(847-849)Cgt>Tgt p.R283C DCLRE1B_ENST00000466480.1_3'UTR NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 283 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding p.R283C(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) 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) CTCCGAGCTTCGTGCCTTTGT 0.562000 Other identified genes with known or suspected DNA repair function 29 54 0 0 0.0024448 0 0 ANGPTL3 27329 broad.mit.edu 37 1 63063322 63063322 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:63063322C>A ENST00000371129.3 + 1 165 c.85C>A c.(85-87)Cta>Ata p.L29I DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron NM_014495.2 NP_055310.1 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 29 acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1) 13 ATTTGATTCTCTATCTCCAGA 0.343000 15 22 1.15088e-07 5.14276e-07 0.000422831 1 0 STRN4 29888 broad.mit.edu 37 19 47225256 47225256 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:47225256G>A ENST00000391910.3 - 16 2550 c.2100C>T c.(2098-2100)ttC>ttT p.F700F STRN4_ENST00000263280.6_Silent_p.F693F|STRN4_ENST00000539396.1_Silent_p.F574F Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 693 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) CTGACATCAGGAATGCGCCGT 0.632000 41 52 0 0 0.000781405 0 0 SH3BP4 23677 broad.mit.edu 37 2 235951492 235951492 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:235951492C>T ENST00000409212.1 + 4 2586 c.2079C>T c.(2077-2079)ctC>ctT p.L693L SH3BP4_ENST00000392011.2_Silent_p.L693L|SH3BP4_ENST00000344528.4_Silent_p.L693L Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 693 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) GGGTCAGGCTCCGGGGCCAGC 0.642000 17 37 0 0 0.00074312 0 0 LRP1 4035 broad.mit.edu 37 12 57592276 57592276 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:57592276C>T ENST00000243077.3 + 60 9965 c.9499C>T c.(9499-9501)Cat>Tat p.H3167Y NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3167 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) CTGGGGTGACCATTCACTGAT 0.617000 8 23 0 0 0.000442599 0 0 TRIML1 339976 broad.mit.edu 37 4 189068239 189068239 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:189068239G>A ENST00000332517.3 + 6 1260 c.1120G>A c.(1120-1122)Gac>Aac p.D374N TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 374 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) GCCACCTGGGGACCTGTTCTC 0.522000 17 71 0 0 0.000958276 0 0 MLYCD 23417 broad.mit.edu 37 16 83948703 83948703 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:83948703C>T ENST00000262430.4 + 5 1110 c.1091C>T c.(1090-1092)tCg>tTg p.S364L RP11-505K9.4_ENST00000561562.1_RNA NM_012213.2 NP_036345.2 O95822 DCMC_HUMAN malonyl-CoA decarboxylase 364 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 AAGGAAATCTCGGAGATCACA 0.547000 60 113 0 0 0.000781405 0 0 GPR116 221395 broad.mit.edu 37 6 46830784 46830784 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:46830784C>T ENST00000283296.7 - 15 2328 c.2040G>A c.(2038-2040)ggG>ggA p.G680G GPR116_ENST00000265417.7_Silent_p.G680G|GPR116_ENST00000545669.1_Silent_p.G109G|GPR116_ENST00000456426.2_Silent_p.G538G|GPR116_ENST00000362015.4_Silent_p.G680G NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 680 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GGATGACTTTCCCCGGCTCTC 0.498000 11 20 0 0 0.00136819 0 0 P4HA2 8974 broad.mit.edu 37 5 131543475 131543475 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:131543475G>A ENST00000401867.1 - 9 1574 c.1006C>T c.(1006-1008)Ccg>Tcg p.P336S P4HA2_ENST00000360568.3_Missense_Mutation_p.P336S|P4HA2_ENST00000379086.1_Missense_Mutation_p.P336S|P4HA2_ENST00000379104.2_Missense_Mutation_p.P336S|P4HA2_ENST00000166534.4_Missense_Mutation_p.P336S|P4HA2_ENST00000379100.2_Missense_Mutation_p.P336S O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 336 endoplasmic reticulum lumen electron carrier activity|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-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) ACGATGTGCGGGCTGTCCCAC 0.532000 16 115 0 0 0.00074312 0 0 OR10R2 343406 broad.mit.edu 37 1 158449913 158449913 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:158449913C>T ENST00000368152.1 + 1 246 c.246C>T c.(244-246)ttC>ttT p.F82F RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F82F(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) TGTACTTCTTCCTTGGCATTC 0.413000 22 101 0 0 0.00047179 0 0 EPHA6 285220 broad.mit.edu 37 3 96706580 96706580 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:96706580G>A ENST00000389672.5 + 3 895 c.857G>A c.(856-858)gGg>gAg p.G286E EPHA6_ENST00000470610.2_Missense_Mutation_p.G286E|EPHA6_ENST00000542517.1_Missense_Mutation_p.G192E NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 191 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 CAAGACATTGGGGCGTGCATT 0.458000 59 126 0 0 0.000781405 0 0 IP6K3 117283 broad.mit.edu 37 6 33693307 33693307 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:33693307C>T ENST00000451316.1 - 6 1211 c.676G>A c.(676-678)Gat>Aat p.D226N IP6K3_ENST00000293756.4_Missense_Mutation_p.D226N NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 226 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 TCCGATGCATCATCGCCGTGC 0.582000 13 30 0 0 0.000308642 0 0 ZNF451 26036 broad.mit.edu 37 6 57006175 57006175 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:57006175C>T ENST00000370706.4 + 8 1022 c.778C>T c.(778-780)Ctt>Ttt p.L260F RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.L260F|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.L260F|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.L260F(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AAATTGCTTCCTTCTTTTTAG 0.373000 11 35 0 0 0.00185496 0 0 TNFSF14 8740 broad.mit.edu 37 19 6667457 6667457 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:6667457C>T ENST00000326176.9 - 3 496 c.115G>A c.(115-117)Gga>Aga p.G39R TNFSF14_ENST00000599359.1_Missense_Mutation_p.G75R|TNFSF14_ENST00000245912.3_Missense_Mutation_p.G39R NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 75 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 CCTGCAGGTCCGTCCTGAAAA 0.617000 12 22 0 0 0.00136819 0 0 AFF4 27125 broad.mit.edu 37 5 132232717 132232717 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:132232717G>A ENST00000265343.5 - 11 1984 c.1605C>T c.(1603-1605)acC>acT p.T535T AFF4_ENST00000378595.3_Silent_p.T535T NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 535 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTTTTGGATGGTTTTGGAGT 0.493000 37 85 0 0 0.00195071 0 0 NR4A2 4929 broad.mit.edu 37 2 157182757 157182757 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:157182757C>T ENST00000339562.4 - 7 1807 c.1445G>A c.(1444-1446)tGg>tAg p.W482* NR4A2_ENST00000409108.2_Intron|NR4A2_ENST00000409572.1_Nonsense_Mutation_p.W482*|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000426264.1_Nonsense_Mutation_p.W419*|NR4A2_ENST00000539077.1_Nonsense_Mutation_p.W493* NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 482 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 GGAATCAATCCATTCCCCAAA 0.473000 19 73 0 0 0.00121646 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516033 138516033 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:138516033C>T ENST00000371763.1 - 5 994 c.741G>A c.(739-741)ctG>ctA p.L247L NM_182974.2 NP_892019.2 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 247 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups p.L247L(1) endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) TAACTCCGTTCAGATATTCTT 0.383000 25 85 0 0 0.000720815 0 0 CLMN 79789 broad.mit.edu 37 14 95658023 95658023 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:95658023G>A ENST00000298912.4 - 13 3000 c.2887C>T c.(2887-2889)Ccg>Tcg p.P963S CLMN_ENST00000557215.1_5'UTR|CLMN_ENST00000556441.1_Missense_Mutation_p.P28S NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 963 P -> L (in dbSNP:rs10149705). integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) TCACTCTGCGGGCTGTGGCTC 0.532000 11 66 0 0 0.000219431 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033087 20033087 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:20033087G>A ENST00000377340.2 - 2 414 c.383C>T c.(382-384)tCc>tTc p.S128F CRNKL1_ENST00000377327.4_Missense_Mutation_p.S116F|CRNKL1_ENST00000536226.1_5'UTR NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 128 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 AAACAAACAGGATCTCGGAAC 0.587000 23 67 0 0 0.00047179 0 0 CMYA5 202333 broad.mit.edu 37 5 79089401 79089401 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:79089401C>T ENST00000446378.2 + 12 11962 c.11931C>T c.(11929-11931)acC>acT p.T3977T CTC-431G16.2_ENST00000421252.2_RNA NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3977 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) AAGGGGAGACCTCATGGTACA 0.567000 8 39 0 0 0.000673444 0 0 MYO3A 53904 broad.mit.edu 37 10 26243928 26243928 + Missense_Mutation SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:26243928G>C ENST00000265944.5 + 4 460 c.294G>C c.(292-294)ttG>ttC p.L98F MYO3A_ENST00000376301.1_Missense_Mutation_p.L98F|MYO3A_ENST00000543632.1_Missense_Mutation_p.L98F|MYO3A_ENST00000376302.1_Missense_Mutation_p.L98F NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 98 Protein kinase. 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 AGCTGTGGTTGGTTCTTGAGG 0.348000 12 81 0 0 0.00185496 0 0 SGK223 157285 broad.mit.edu 37 8 8234649 8234649 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:8234649G>A ENST00000520004.1 - 3 1534 c.1270C>T c.(1270-1272)Cct>Tct p.P424S SGK223_ENST00000330777.4_Missense_Mutation_p.P424S Q86YV5 SG223_HUMAN 424 ATP binding|non-membrane spanning protein tyrosine kinase activity GACTTGGAAGGCACCGGAGCT 0.632000 34 53 0 0 0.00148497 0 0 SMPD4 55627 broad.mit.edu 37 2 130930381 130930381 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:130930381G>A ENST00000409031.1 - 6 1698 c.550C>T c.(550-552)Ctt>Ttt p.L184F SMPD4_ENST00000351288.6_Missense_Mutation_p.L184F|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000431183.2_Missense_Mutation_p.L111F|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.L71F NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 145 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) TTCAGACCAAGGCCCCCAGTA 0.607000 11 22 0 0 0.000978159 0 0 COX7A2 1347 broad.mit.edu 37 6 75953512 75953512 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:75953512G>A ENST00000370081.2 - 2 345 c.35C>T c.(34-36)cCg>cTg p.P12L COX7A2_ENST00000230459.4_5'UTR|COX7A2_ENST00000370089.2_Missense_Mutation_p.P12L P14406 CX7A2_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 (liver) 0 mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity kidney(2)|lung(1) 3 TGGCCACGCCGGAACCGGAAC 0.522000 11 20 0 0 0.000978159 0 0 LAD1 3898 broad.mit.edu 37 1 201355609 201355609 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:201355609C>T ENST00000391967.2 - 3 1181 c.880G>A c.(880-882)Gag>Aag p.E294K LAD1_ENST00000367313.3_Missense_Mutation_p.E308K NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 294 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GCTGGCGGCTCCTGCGCCAGG 0.637000 30 55 0 0 0.000692331 0 0 TENM4 26011 broad.mit.edu 37 11 78372622 78372622 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:78372622G>A ENST00000278550.7 - 33 7885 c.7423C>T c.(7423-7425)Ctg>Ttg p.L2475L NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 AAGGTGAGCAGCCAGCTGTTA 0.512000 10 15 0 0 0.000978159 0 0 PLCZ1 89869 broad.mit.edu 37 12 18872434 18872434 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:18872434G>A ENST00000447925.2 - 5 763 c.494C>T c.(493-495)tCa>tTa p.S165L PLCZ1_ENST00000541695.1_Missense_Mutation_p.S30L|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000266505.7_Missense_Mutation_p.S167L|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 167 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) ATGTGAAGATGAAATAAAATA 0.269000 15 25 0 0 0.000308642 0 0 C19orf44 84167 broad.mit.edu 37 19 16617511 16617511 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:16617511G>A ENST00000221671.3 + 4 1231 c.e4-1 CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Splice_Site NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 TTTAATTACAGAGTTTAGAAT 0.303000 6 26 0 0 0.000157383 0 0 IL1R1 3554 broad.mit.edu 37 2 102781284 102781284 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:102781284G>A ENST00000410023.1 + 4 430 c.112G>A c.(112-114)Gaa>Aaa p.E38K IL1R1_ENST00000233946.3_Missense_Mutation_p.E38K|IL1R1_ENST00000409589.1_Missense_Mutation_p.E38K|IL1R1_ENST00000424272.1_Missense_Mutation_p.E38K|IL1R1_ENST00000409329.1_Missense_Mutation_p.E38K|IL1R1_ENST00000409929.1_Missense_Mutation_p.E38K|IL1R1_ENST00000409288.1_Missense_Mutation_p.E38K P14778 IL1R1_HUMAN interleukin 1 receptor, type I 38 Ig-like C2-type 1. 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) ATCTGCAAATGAAATTGATGT 0.363000 20 41 0 0 0.00188189 0 0 DEFB116 245930 broad.mit.edu 37 20 29891016 29891016 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:29891016C>T ENST00000400549.1 - 2 307 c.308G>A c.(307-309)tGa>tAa p.*103* NM_001037731.1 NP_001032820.1 Q30KQ4 DB116_HUMAN defensin, beta 116 0 defense response to bacterium extracellular region kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TGGTGATATTCAAATGTGAGA 0.373000 19 49 0 0 0.00121646 0 0 PKD2L2 27039 broad.mit.edu 37 5 137235301 137235301 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:137235301G>A ENST00000508638.1 + 5 676 c.621G>A c.(619-621)tcG>tcA p.S207S PKD2L2_ENST00000508883.1_Silent_p.S207S|PKD2L2_ENST00000502810.1_Silent_p.S207S|PKD2L2_ENST00000290431.5_Silent_p.S207S|PKD2L2_ENST00000350250.4_Silent_p.S173S NM_001258449.1 NP_001245378.1 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 207 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TATCAAAATCGAAATCTGAAA 0.368000 11 65 0 0 0.000673444 0 0 IGHV3-11 28450 broad.mit.edu 37 14 106573449 106573449 + RNA SNP T T G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:106573449T>G ENST00000390601.2 - 0 254 TGAAGGTGAATCCAGAGGCTG 0.552000 12 91 0 0 0.00136819 0 0 ROBO1 6091 broad.mit.edu 37 3 78710286 78710286 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:78710286G>A ENST00000436010.2 - 14 3094 c.2097C>T c.(2095-2097)atC>atT p.I699I ROBO1_ENST00000464233.1_Silent_p.I738I|ROBO1_ENST00000467549.1_Silent_p.I702I|ROBO1_ENST00000495273.1_Silent_p.I702I Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 738 Fibronectin type-III 2. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGAGATCAGGGATTACCACAC 0.423000 16 32 0 0 0.000566183 0 0 CFHR1 3078 broad.mit.edu 37 1 196794625 196794625 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:196794625C>T ENST00000320493.5 + 2 165 c.77C>T c.(76-78)cCa>cTa p.P26L CFHR1_ENST00000367424.3_Missense_Mutation_p.P26L|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 26 Sushi 1. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 TGTGATTTTCCAAAAATAAAC 0.269000 8 25 0 0 0.000274275 0 0 BAZ1B 9031 broad.mit.edu 37 7 72856563 72856563 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:72856563G>A ENST00000339594.4 - 19 4753 c.4415C>T c.(4414-4416)gCc>gTc p.A1472V BAZ1B_ENST00000404251.1_Missense_Mutation_p.A1472V NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1472 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) CTGTCCAACGGCCTCTGGCTC 0.587000 88 203 0 0 0.000781405 0 0 EPHB1 2047 broad.mit.edu 37 3 134851825 134851825 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:134851825G>A ENST00000398015.3 + 5 1601 c.1231G>A c.(1231-1233)Gga>Aga p.G411R EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 411 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GGCCATCAATGGAGTCTCCAG 0.592000 7 36 0 0 0.000157383 0 0 ARMC5 79798 broad.mit.edu 37 16 31477422 31477422 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:31477422C>T ENST00000408912.3 + 8 2622 c.2305C>T c.(2305-2307)Ctg>Ttg p.L769L ARMC5_ENST00000538189.1_Silent_p.L706L|ARMC5_ENST00000412665.2_Silent_p.L318L|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Silent_p.L674L|ARMC5_ENST00000563544.1_Silent_p.L674L Q96C12 ARMC5_HUMAN armadillo repeat containing 5 674 BTB. binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GTGGCGCCGGCTGCTTCTGGA 0.662000 19 38 0 0 0.000958276 0 0 UNC45B 146862 broad.mit.edu 37 17 33481754 33481754 + Silent SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:33481754A>G ENST00000268876.5 + 6 730 c.633A>G c.(631-633)caA>caG p.Q211Q UNC45B_ENST00000433649.1_Silent_p.Q211Q|UNC45B_ENST00000394570.2_Silent_p.Q211Q|UNC45B_ENST00000591048.1_Silent_p.Q211Q|UNC45B_ENST00000378449.1_Silent_p.Q211Q NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 211 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GCGGCCACCAAGCCAGAGTAA 0.612000 11 20 0 0 0.00185496 0 0 ATP8A2 51761 broad.mit.edu 37 13 26154085 26154085 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:26154085G>A ENST00000381655.2 + 22 2149 c.2007_splice c.e22+1 p.K669_splice ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Splice_Site_p.K629_splice NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 629 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TCATTGAGAAGGTAACCGCAC 0.423000 9 9 0 0 0.000978159 0 0 GRM3 2913 broad.mit.edu 37 7 86479764 86479764 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:86479764C>T ENST00000361669.2 + 5 3569 c.2470C>T c.(2470-2472)Cac>Tac p.H824Y GRM3_ENST00000439827.1_Missense_Mutation_p.S468L|GRM3_ENST00000394720.2_Missense_Mutation_p.S466L|GRM3_ENST00000546348.1_Missense_Mutation_p.H416Y|GRM3_ENST00000536043.1_Missense_Mutation_p.H696Y NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 824 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) ACCCAAGGTTCACATCATCCT 0.493000 11 21 0 0 0.000673444 0 0 SPTA1 6708 broad.mit.edu 37 1 158644424 158644424 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:158644424C>T ENST00000368148.3 - 9 1334 c.1154G>A c.(1153-1155)tGg>tAg p.W385* SPTA1_ENST00000368147.3_Nonsense_Mutation_p.W385* NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 385 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.W385L(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) CTCGTTCATCCAGCCTGAGAG 0.468000 34 121 0 0 0.00111076 0 0 KANK4 163782 broad.mit.edu 37 1 62732423 62732423 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:62732423G>A ENST00000371153.4 - 6 2678 c.2300C>T c.(2299-2301)aCc>aTc p.T767I KANK4_ENST00000371150.1_Missense_Mutation_p.T123I|KANK4_ENST00000354381.3_Missense_Mutation_p.T139I NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 767 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GTCTGTGGTGGTCCCAGTTTC 0.403000 50 150 0 0 0.000781405 0 0 STXBP5L 9515 broad.mit.edu 37 3 121100303 121100303 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:121100303G>A ENST00000273666.6 + 23 2854 c.2583G>A c.(2581-2583)atG>atA p.M861I STXBP5L_ENST00000492541.1_Missense_Mutation_p.M861I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.M835I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.M837I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.M837I NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 861 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) GTCTGGGAATGGTGTTAATCA 0.408000 18 65 0 0 0.000566183 0 0 TNNI2 7136 broad.mit.edu 37 11 1862390 1862390 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:1862390G>A ENST00000381906.1 + 7 475 c.406G>A c.(406-408)Gac>Aac p.D136N TNNI2_ENST00000381905.3_Missense_Mutation_p.D136N|TNNI2_ENST00000252898.7_Missense_Mutation_p.D136N|TNNI2_ENST00000381911.1_Missense_Mutation_p.D136N NM_001145829.1 NP_001139301.1 P48788 TNNI2_HUMAN troponin I type 2 (skeletal, fast) 136 muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding lung(8)|prostate(1)|urinary_tract(1) 10 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGTGTGCATGGACCTGAGGGC 0.652000 14 41 0 0 0.000308642 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884786 228884786 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:228884786C>T ENST00000392056.3 - 7 830 c.784G>A c.(784-786)Gaa>Aaa p.E262K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E262K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 262 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) AGCCACTTTTCCTTGTTGCAA 0.378000 59 173 0 0 0.000781405 0 0 PCDHA6 56142 broad.mit.edu 37 5 140207901 140207901 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140207901G>A ENST00000529310.1 + 1 339 c.225G>A c.(223-225)ctG>ctA p.L75L PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.L75L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.L75L(2) 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) AGGACCTTCTGGAGGTAAATC 0.632000 41 183 0 0 0.000680045 0 0 UBR1 197131 broad.mit.edu 37 15 43307948 43307948 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:43307948T>C ENST00000290650.4 - 29 3225 c.3147A>G c.(3145-3147)aaA>aaG p.K1049K UBR1_ENST00000382177.2_3'UTR|UBR1_ENST00000568782.1_5'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 1049 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) CATACATGAGTTTATGAGTTT 0.373000 48 254 0 0 0.000781405 0 0 CLCN1 1180 broad.mit.edu 37 7 143047514 143047514 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:143047514C>T ENST00000343257.2 + 21 2540 c.2453C>T c.(2452-2454)tCc>tTc p.S818F NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 818 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TGTTTTGATTCCTGCTGTATT 0.557000 10 26 0 0 0.00185496 0 0 GPR137 56834 broad.mit.edu 37 11 64055848 64055848 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:64055848C>T ENST00000539851.1 + 6 1287 c.820C>T c.(820-822)Ctg>Ttg p.L274L GPR137_ENST00000438980.2_Silent_p.L274L|GPR137_ENST00000377702.4_Silent_p.L224L|GPR137_ENST00000313074.3_Silent_p.L274L|GPR137_ENST00000411458.1_Silent_p.L332L NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 274 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 CAAAGGCTACCTGGTATTTGG 0.637000 45 66 0 0 0.000781405 0 0 SAMD8 142891 broad.mit.edu 37 10 76910469 76910469 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:76910469C>T ENST00000542569.1 + 2 286 c.183C>T c.(181-183)gtC>gtT p.V61V SAMD8_ENST00000372687.3_Silent_p.V61V|SAMD8_ENST00000372690.3_Silent_p.V124V NM_001174156.1|NM_144660.2 NP_001167627.1|NP_653261.1 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 61 SAM. sphingomyelin biosynthetic process integral to membrane NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 12 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) AAATCAAAGTCTTAGGGGACA 0.393000 17 68 0 0 0.00152264 0 0 SDPR 8436 broad.mit.edu 37 2 192700840 192700840 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:192700840C>T ENST00000304141.4 - 2 1416 c.1087G>A c.(1087-1089)Ggg>Agg p.G363R NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 363 caveola|cytosol phosphatidylserine binding|protein binding p.G363R(1) NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GAGTTACTCCCCCTGGAGGTC 0.567000 44 109 0 0 0.000781405 0 0 CSK 1445 broad.mit.edu 37 15 75091683 75091683 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:75091683C>T ENST00000220003.9 + 5 1042 c.313C>T c.(313-315)Ctg>Ttg p.L105L CSK_ENST00000567571.1_Silent_p.L105L|CSK_ENST00000309470.9_Silent_p.L105L|CSK_ENST00000439220.2_Silent_p.L105L NM_004383.2 NP_004374.1 P41240 CSK_HUMAN c-src tyrosine kinase 105 SH2. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 AGGCCTGTTCCTGGTGCGGGA 0.627000 11 31 0 0 0.000978159 0 0 GRID1 2894 broad.mit.edu 37 10 87966146 87966146 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:87966146G>A ENST00000327946.7 - 3 580 c.495C>T c.(493-495)ttC>ttT p.F165F NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 165 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) AGAACATGACGAACTTCTGCC 0.617000 Multiple Myeloma(13;0.14) 8 34 0 0 0.000274275 0 0 PLXNB1 5364 broad.mit.edu 37 3 48454559 48454559 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:48454559G>A ENST00000358536.4 - 24 4824 c.4555C>T c.(4555-4557)Ctg>Ttg p.L1519L PLXNB1_ENST00000448774.2_Silent_p.L130L|PLXNB1_ENST00000456774.1_Silent_p.L1336L|PLXNB1_ENST00000358459.4_Silent_p.L1336L|PLXNB1_ENST00000296440.6_Silent_p.L1519L NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1519 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) TAGTCCCTCAGGGCCTGCTTG 0.597000 47 92 0 0 0.000781405 0 0 RGL1 23179 broad.mit.edu 37 1 183816876 183816876 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:183816876C>T ENST00000304685.3 + 4 881 c.420C>T c.(418-420)tcC>tcT p.S140S RGL1_ENST00000539189.1_Silent_p.S105S|RGL1_ENST00000536277.1_Silent_p.S103S|RGL1_ENST00000367531.1_Silent_p.S140S|RGL1_ENST00000360851.3_Silent_p.S105S NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 105 N-terminal Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 GCTTTGCCTCCACTAAAGAAG 0.453000 28 54 0 0 0.00106085 0 0 MORN3 283385 broad.mit.edu 37 12 122091164 122091164 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:122091164C>T ENST00000355329.3 - 4 635 c.463_splice c.e4-1 p.K155_splice NM_173855.4 NP_776254.3 Q6PF18 MORN3_HUMAN MORN repeat containing 3 155 breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) GGTTCCCGTTCTCTGGGGGAA 0.587000 12 23 0 0 0.000308642 0 0 PLOD2 5352 broad.mit.edu 37 3 145799564 145799564 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:145799564C>T ENST00000282903.5 - 12 1496 c.1319G>A c.(1318-1320)cGa>cAa p.R440Q PLOD2_ENST00000494950.1_Missense_Mutation_p.R385Q|PLOD2_ENST00000360060.3_Missense_Mutation_p.R440Q|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.R100Q NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 440 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 binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) ATCTTCAGATCGTGCATAGTA 0.368000 17 37 0 0 0.000958276 0 0 TEFM 79736 broad.mit.edu 37 17 29226340 29226340 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:29226340C>T ENST00000581216.1 - 4 1551 c.930G>A c.(928-930)aaG>aaA p.K310K TEFM_ENST00000580840.1_3'UTR NM_024683.3 NP_078959.3 Q96QE5 TEFM_HUMAN transcription elongation factor, mitochondrial 310 oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter mitochondrial nucleoid|ribonucleoprotein complex DNA polymerase processivity factor activity|nucleic acid binding|protein binding GAGGATCCGCCTTCAGTATAG 0.408000 45 64 0 0 0.000781405 0 0 MCM6 4175 broad.mit.edu 37 2 136603847 136603847 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:136603847G>A ENST00000264156.2 - 15 2229 c.2169C>T c.(2167-2169)atC>atT p.I723I MCM6_ENST00000492091.1_5'UTR NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 723 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|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TAAGGTTAGAGATTCGGCAGT 0.478000 29 96 0 0 0.001512 0 0 PRKCZ 5590 broad.mit.edu 37 1 2080359 2080359 + Missense_Mutation SNP C C T rs146591213 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:2080359C>T ENST00000400921.2 + 5 817 c.134C>T c.(133-135)tCg>tTg p.S45L PRKCZ_ENST00000400920.1_Missense_Mutation_p.S45L|PRKCZ_ENST00000479263.1_3'UTR NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 228 OPR. 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) AAAGACGACTCGGAGGTGAGT 0.532000 28 72 0 0 0.00058488 0 0 PRSS35 167681 broad.mit.edu 37 6 84234041 84234041 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:84234041G>A ENST00000536636.1 + 3 1226 c.881G>A c.(880-882)gGa>gAa p.G294E PRSS35_ENST00000369700.3_Missense_Mutation_p.G294E NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 294 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) ATGGAACTTGGAATCAGCCCA 0.488000 20 32 0 0 0.00152264 0 0 MUC16 94025 broad.mit.edu 37 19 9065364 9065364 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9065364C>T ENST00000397910.4 - 3 22285 c.22082G>A c.(22081-22083)aGa>aAa p.R7361K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7363 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 GTGTGGCAATCTCTGAGTCAT 0.502000 7 32 0 0 0.000274275 0 0 DSEL 92126 broad.mit.edu 37 18 65181576 65181576 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:65181576G>A ENST00000310045.7 - 2 1773 c.300C>T c.(298-300)atC>atT p.I100I NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 90 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) CTGCACTTCTGATAGCTCTAA 0.398000 9 88 0 0 0.000673444 0 0 MECOM 2122 broad.mit.edu 37 3 168834404 168834404 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:168834404G>A ENST00000464456.1 - 7 1892 c.692C>T c.(691-693)tCc>tTc p.S231F MECOM_ENST00000472280.1_Missense_Mutation_p.S232F|MECOM_ENST00000264674.3_Missense_Mutation_p.S296F|MECOM_ENST00000392736.3_Missense_Mutation_p.S231F|MECOM_ENST00000433243.2_Missense_Mutation_p.S232F|MECOM_ENST00000494292.1_Missense_Mutation_p.S419F|MECOM_ENST00000460814.1_Missense_Mutation_p.S231F|MECOM_ENST00000468789.1_Missense_Mutation_p.S231F NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity 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 TTTATTTAAGGAAGACGTAGT 0.453000 28 67 0 0 0.001512 0 0 TIMD4 91937 broad.mit.edu 37 5 156381593 156381593 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:156381593G>A ENST00000274532.2 - 2 289 c.233C>T c.(232-234)tCa>tTa p.S78L TIMD4_ENST00000407087.3_Missense_Mutation_p.S78L NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 78 Ig-like V-type. integral to membrane p.S78*(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) TGACTTTCTTGAGGTCACCCT 0.527000 59 283 0 0 0.000781405 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481317 140481317 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140481317G>A ENST00000231130.2 + 1 1084 c.1084G>A c.(1084-1086)Gag>Aag p.E362K AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 362 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) GAACTCGGGAGAGACTGTACT 0.478000 21 70 0 0 0.00188189 0 0 HELZ 9931 broad.mit.edu 37 17 65119265 65119265 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:65119265G>A ENST00000358691.5 - 26 3617 c.3451C>T c.(3451-3453)Cct>Tct p.P1151S HELZ_ENST00000580168.1_Missense_Mutation_p.P1152S 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) AGTACAGAAGGATTGGGCTGA 0.373000 8 14 0 0 0.000442599 0 0 LPHN2 23266 broad.mit.edu 37 1 82416777 82416777 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:82416777C>T ENST00000370728.1 + 10 2213 c.1568C>T c.(1567-1569)tCa>tTa p.S523L LPHN2_ENST00000271029.4_Missense_Mutation_p.S523L|LPHN2_ENST00000370713.1_Missense_Mutation_p.S523L|LPHN2_ENST00000370717.2_Missense_Mutation_p.S523L|LPHN2_ENST00000370721.1_Missense_Mutation_p.S461L|LPHN2_ENST00000359929.3_Missense_Mutation_p.S523L|LPHN2_ENST00000370723.1_Missense_Mutation_p.S523L|LPHN2_ENST00000370725.1_Missense_Mutation_p.S523L|LPHN2_ENST00000370727.1_Missense_Mutation_p.S523L|LPHN2_ENST00000394879.1_Missense_Mutation_p.S523L|LPHN2_ENST00000370715.1_Missense_Mutation_p.S523L|LPHN2_ENST00000335786.5_Missense_Mutation_p.S523L|LPHN2_ENST00000319517.6_Missense_Mutation_p.S523L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.S523L O95490 LPHN2_HUMAN latrophilin 2 523 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.S523*(1) 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) AACTGTACCTCACACTGGGTG 0.418000 16 56 0 0 0.000422831 0 0 CNTN3 5067 broad.mit.edu 37 3 74347186 74347186 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:74347186C>T ENST00000263665.6 - 17 2350 c.2323G>A c.(2323-2325)Gaa>Aaa p.E775K NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 775 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ACTTTAACTTCATATGGTGAA 0.438000 20 73 0 0 0.00047179 0 0 PAPPA2 60676 broad.mit.edu 37 1 176681030 176681030 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:176681030C>T ENST00000367662.3 + 12 4875 c.3711C>T c.(3709-3711)ccC>ccT p.P1237P NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1237 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 GCTGGTTTCCCTGTGTTGCCA 0.453000 25 32 0 0 0.000878237 0 0 MYH7 4625 broad.mit.edu 37 14 23886368 23886368 + Silent SNP G G A rs139928934 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:23886368G>A ENST00000355349.3 - 32 4675 c.4513C>T c.(4513-4515)Ctg>Ttg p.L1505L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1505 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) ACACCCTGCAGGTTTTTGTTC 0.592000 36 143 0 0 0.00170553 0 0 CSMD2 114784 broad.mit.edu 37 1 33990616 33990616 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:33990616G>A ENST00000373381.4 - 66 10438 c.10262C>T c.(10261-10263)tCc>tTc p.S3421F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3277 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) TTTCCACAGGGAATTCTTGGC 0.502000 70 149 0 0 0.000781405 0 0 MKL2 57496 broad.mit.edu 37 16 14342884 14342884 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:14342884G>A ENST00000571589.1 + 13 2521 c.2349G>A c.(2347-2349)caG>caA p.Q783Q MKL2_ENST00000341243.5_Silent_p.Q772Q|MKL2_ENST00000574045.1_Silent_p.Q733Q|MKL2_ENST00000318282.5_Silent_p.Q733Q NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 772 Gln-rich. 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 CTGTACCTCAGACACAAGACA 0.498000 14 14 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179577973 179577973 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179577973C>T ENST00000589042.1 - 93 27112 c.26888G>A c.(26887-26889)gGa>gAa p.G8963E TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7719E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8646E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8646 Ig-like 72. 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) GATCTCATTTCCTTCATGGAA 0.433000 8 16 0 0 0.000157383 0 0 NOD1 10392 broad.mit.edu 37 7 30496450 30496450 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:30496450G>A ENST00000222823.4 - 4 613 c.88C>T c.(88-90)Ctg>Ttg p.L30L NOD1_ENST00000423334.2_Silent_p.L30L NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 30 CARD. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 TGAGTGACCAGAAGTTCCCGA 0.488000 28 87 0 0 0.001512 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81049620 81049620 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:81049620G>A ENST00000334512.5 + 9 1086 c.514G>A c.(514-516)Gga>Aga p.G172R ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 172 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) CACGGTTTGGGGAGTAACCAA 0.592000 12 73 0 0 0.000308642 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033525 95033525 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:95033525G>A ENST00000557004.1 + 3 1289 c.868G>A c.(868-870)Gaa>Aaa p.E290K SERPINA4_ENST00000555095.1_Missense_Mutation_p.E290K|SERPINA4_ENST00000298841.5_Missense_Mutation_p.E290K|SERPINA5_ENST00000553780.1_Intron P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 290 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.E290*(2) 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) GAGGGAGATTGAAGAGGTTCT 0.468000 7 38 0 0 0.000274275 0 0 IGHV1-24 28467 broad.mit.edu 37 14 106733388 106733388 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:106733388G>A ENST00000390610.2 - 0 166 GACCTTCACTGAGGCCCCAGG 0.577000 16 113 0 0 0.000422831 0 0 PDE10A 10846 broad.mit.edu 37 6 165801909 165801909 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:165801909C>T ENST00000366882.1 - 18 1814 c.1660G>A c.(1660-1662)Gac>Aac p.D554N PDE10A_ENST00000354448.4_Missense_Mutation_p.D554N|PDE10A_ENST00000539869.2_Missense_Mutation_p.D564N Q9Y233 PDE10_HUMAN phosphodiesterase 10A 554 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TGGTCCAGGTCATGACACAGA 0.498000 20 54 0 0 0.000375601 0 0 TRAV1-2 28692 broad.mit.edu 37 14 22111789 22111789 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:22111789C>T ENST00000390423.2 + 0 393 CTGCCTCTTACCTCTGTGCTG 0.463000 12 41 0 0 0.00185496 0 0 FAM83H 286077 broad.mit.edu 37 8 144812355 144812355 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:144812355C>T ENST00000388913.3 - 2 523 c.398G>A c.(397-399)aGc>aAc p.S133N NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 133 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GATACTGGGGCTGTCGGGGGG 0.662000 8 13 0 0 0.000274275 0 0 AMER3 205147 broad.mit.edu 37 2 131522187 131522187 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:131522187G>A ENST00000423981.1 + 2 2652 c.2542G>A c.(2542-2544)Gaa>Aaa p.E848K AMER3_ENST00000321420.4_Missense_Mutation_p.E848K NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 TGGCCAGCCAGAAGTGGGGGC 0.622000 9 24 0 0 0.000978159 0 0 URB2 9816 broad.mit.edu 37 1 229771720 229771720 + Missense_Mutation SNP C C T rs115399585 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:229771720C>T ENST00000258243.2 + 4 1496 c.1360C>T c.(1360-1362)Cgt>Tgt p.R454C NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 454 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GGCGCTTATTCGTACTGTCTT 0.522000 59 137 0 0 0.000781405 0 0 KLHL1 57626 broad.mit.edu 37 13 70681351 70681351 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:70681351C>T ENST00000377844.4 - 1 1240 c.481G>A c.(481-483)Gaa>Aaa p.E161K KLHL1_ENST00000545028.1_Missense_Mutation_p.E29K|ATXN8OS_ENST00000414504.2_RNA NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 161 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CCACATCCTTCACCTGTTGCC 0.532000 15 91 0 0 0.00121646 0 0 CYFIP2 26999 broad.mit.edu 37 5 156752644 156752644 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:156752644G>A ENST00000347377.6 + 17 2411 c.1980G>A c.(1978-1980)atG>atA p.M660I CYFIP2_ENST00000521420.1_Missense_Mutation_p.M634I|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.M464I|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M660I|CYFIP2_ENST00000435847.2_Missense_Mutation_p.M359I|CYFIP2_ENST00000541131.1_Missense_Mutation_p.M585I|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M685I|CYFIP2_ENST00000442283.2_5'UTR NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 685 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) CTTCCATGATGGAGTAAGAGG 0.527000 20 138 0 0 0.00229938 0 0 IL4R 3566 broad.mit.edu 37 16 27356321 27356321 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:27356321C>T ENST00000395762.2 + 5 600 c.341C>T c.(340-342)tCc>tTc p.S114F IL4R_ENST00000170630.2_Missense_Mutation_p.S114F|IL4R_ENST00000543915.2_Missense_Mutation_p.S114F|IL4R_ENST00000449195.1_Missense_Mutation_p.S114F|IL4R_ENST00000380922.3_Missense_Mutation_p.S99F NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 114 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 TGGAAGGGCTCCTTCAAGCCC 0.667000 17 54 0 0 0.000958276 0 0 FCER1A 2205 broad.mit.edu 37 1 159272205 159272205 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:159272205C>T ENST00000368115.1 + 2 150 c.51C>T c.(49-51)ttC>ttT p.F17F FCER1A_ENST00000368114.1_Silent_p.F17F NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 17 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) CCTTACTGTTCTTCGGTAAGT 0.498000 24 68 0 0 0.000720815 0 0 NCOA6 23054 broad.mit.edu 37 20 33328277 33328277 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:33328277G>A ENST00000374796.2 - 12 8353 c.5783C>T c.(5782-5784)tCc>tTc p.S1928F NCOA6_ENST00000359003.2_Missense_Mutation_p.S1928F Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1928 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CGGTACGGCGGAGATGAGCTC 0.587000 10 30 0 0 0.000978159 0 0 TTN 7273 broad.mit.edu 37 2 179522819 179522819 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179522819C>T ENST00000589042.1 - 186 38001 c.37777G>A c.(37777-37779)Gct>Act p.A12593T TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10845 Ig-like 84. 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) ACAATCGGAGCTTCTGGTTTT 0.408000 21 19 0 0 0.000586117 0 0 SYT3 84258 broad.mit.edu 37 19 51128455 51128455 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:51128455G>A ENST00000338916.4 - 7 2304 c.1671C>T c.(1669-1671)ccC>ccT p.P557P SYT3_ENST00000600079.1_Silent_p.P557P|SYT3_ENST00000593901.1_Silent_p.P557P|SYT3_ENST00000544769.1_Silent_p.P557P NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 557 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CGGGCTTGCGGGGATTGGCCA 0.682000 8 5 0 0 0.000157383 0 0 DNMT3L 29947 broad.mit.edu 37 21 45671536 45671536 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:45671536G>A ENST00000270172.3 - 9 1222 c.739C>T c.(739-741)Ccc>Tcc p.P247S DNMT3L_ENST00000418993.1_Missense_Mutation_p.P247S NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 247 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) TGGCCCAGGGGAGGTGTGGCG 0.642000 20 89 0 0 0.000586117 0 0 ANO4 121601 broad.mit.edu 37 12 101295594 101295594 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:101295594G>A ENST00000392979.3 + 2 392 c.31G>A c.(31-33)Gga>Aga p.G11R ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.G11R|ANO4_ENST00000538618.1_Missense_Mutation_p.G177R NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 11 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 AATCACTAATGGAAAAACCAA 0.498000 HNSCC(74;0.22) 33 72 0 0 0.000491102 0 0 IL12RB1 3594 broad.mit.edu 37 19 18182980 18182980 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:18182980C>T ENST00000600835.1 - 10 1266 c.963G>A c.(961-963)tcG>tcA p.S321S IL12RB1_ENST00000593993.1_Silent_p.S321S|IL12RB1_ENST00000430026.2_Silent_p.S321S|IL12RB1_ENST00000322153.6_Silent_p.S321S P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 321 Fibronectin type-III 3. 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 CAAATTGGTTCGAGGAGATGA 0.627000 12 36 0 0 0.00185496 0 0 TSTD2 158427 broad.mit.edu 37 9 100380097 100380097 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:100380097G>A ENST00000341170.4 - 4 927 c.545C>T c.(544-546)cCc>cTc p.P182L TSTD2_ENST00000375163.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000484708.1_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000375172.2_5'UTR NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 182 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 GATCCATTGGGGATCCTCCAG 0.502000 19 31 0 0 0.00121646 0 0 CLCA1 1179 broad.mit.edu 37 1 86959213 86959213 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:86959213G>A ENST00000234701.3 + 11 1962 c.1611G>A c.(1609-1611)caG>caA p.Q537Q CLCA1_ENST00000394711.1_Silent_p.Q537Q A8K7I4 CLCA1_HUMAN chloride channel accessory 1 537 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) CCAGTGGACAGAAGCAAGGTG 0.478000 13 55 0 0 0.000308642 0 0 ANGPT1 284 broad.mit.edu 37 8 108315572 108315572 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:108315572C>T ENST00000520734.1 - 4 517 c.232G>A c.(232-234)Gag>Aag p.E78K ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.E77K Q15389 ANGP1_HUMAN angiopoietin 1 278 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TTCTCTTCCTCTCTTTTTCCT 0.313000 9 36 0 0 0.000442599 0 0 ANPEP 290 broad.mit.edu 37 15 90344717 90344717 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:90344717T>C ENST00000300060.6 - 11 2004 c.1691A>G c.(1690-1692)gAg>gGg p.E564G ANPEP_ENST00000558177.1_5'UTR NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 564 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GAGGAAGTGCTCCTGGGAAAG 0.607000 9 53 0 0 0.000442599 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90572290 90572290 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:90572290C>T ENST00000551025.1 + 0 2299 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) ACAAGGACATCCTGAGAAATA 0.393000 74 128 0 0 0.000781405 0 0 PELI1 57162 broad.mit.edu 37 2 64327602 64327602 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:64327602G>A ENST00000358912.4 - 4 675 c.233C>T c.(232-234)tCa>tTa p.S78L PELI1_ENST00000466177.2_5'UTR NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 78 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 TAAAGTATATGATATGCTATG 0.333000 47 88 0 0 0.000781405 0 0 BHMT 635 broad.mit.edu 37 5 78411640 78411640 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:78411640G>A ENST00000274353.5 + 2 191 c.84G>A c.(82-84)ggG>ggA p.G28G BHMT_ENST00000524080.1_Silent_p.G28G|DMGDH_ENST00000520388.1_Intron NM_001713.2 NP_001704.2 Q93088 BHMT1_HUMAN betaine--homocysteine S-methyltransferase 28 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2) 29 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) GAGATGGAGGGTTTGTCTTTG 0.478000 19 76 0 0 0.00188189 0 0 SCNN1G 6340 broad.mit.edu 37 16 23208674 23208674 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:23208674G>A ENST00000300061.2 + 6 1146 c.1003G>A c.(1003-1005)Gat>Aat p.D335N CTC-391G2.1_ENST00000563471.1_RNA NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 335 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) CCATCGGCAGGATGAGTATCC 0.463000 13 39 0 0 0.000308642 0 0 TTL 150465 broad.mit.edu 37 2 113243522 113243522 + Silent SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:113243522G>T ENST00000233336.5 + 2 377 c.186G>T c.(184-186)gtG>gtT p.V62V NM_153712.4 NP_714923.1 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 62 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) TACAGTTGGTGAATTACTACA 0.483000 T ETV6 ALL 24 138 1.77063e-15 7.94568e-15 0.000878237 1 0 UNC13A 23025 broad.mit.edu 37 19 17785506 17785506 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:17785506C>T ENST00000428389.2 - 4 375 c.376G>A c.(376-378)Gtg>Atg p.V126M UNC13A_ENST00000552293.1_Missense_Mutation_p.V38M|UNC13A_ENST00000551649.1_Missense_Mutation_p.V38M|UNC13A_ENST00000550896.1_Missense_Mutation_p.V38M|UNC13A_ENST00000519716.2_Missense_Mutation_p.V38M|UNC13A_ENST00000252773.7_Missense_Mutation_p.V38M Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 38 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 CTGCCCCGCACCGCGATGGTC 0.602000 21 72 0 0 0.00127121 0 0 MAGI1 9223 broad.mit.edu 37 3 65346891 65346891 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:65346891C>T ENST00000330909.8 - 23 3700 c.3701G>A c.(3700-3702)gGc>gAc p.G1234D MAGI1_ENST00000402939.2_Missense_Mutation_p.G1206D|MAGI1_ENST00000497477.2_Missense_Mutation_p.G1139D|MAGI1_ENST00000483466.1_Missense_Mutation_p.G1235D NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1235 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) TGGTACTGAGCCGTCTCCCCG 0.463000 20 57 0 0 0.00047179 0 0 OR6K2 81448 broad.mit.edu 37 1 158670041 158670041 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:158670041G>A ENST00000359610.2 - 1 445 c.402C>T c.(400-402)atC>atT p.I134I NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 134 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) TGGGGGTCATGATAGAGGGAT 0.473000 11 57 0 0 0.00185496 0 0 RGS12 6002 broad.mit.edu 37 4 3319322 3319322 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:3319322C>T ENST00000336727.3 + 2 2329 c.1425C>T c.(1423-1425)ccC>ccT p.P475P RGS12_ENST00000382788.3_Silent_p.P475P|RGS12_ENST00000543385.1_Silent_p.P475P|RGS12_ENST00000344733.5_Silent_p.P475P NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 475 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) GGACTGGGCCCTTCTGTCCGG 0.682000 15 80 0 0 0.000308642 0 0 PDE6A 5145 broad.mit.edu 37 5 149240503 149240503 + Silent SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:149240503G>C ENST00000255266.5 - 22 2657 c.2538C>G c.(2536-2538)ccC>ccG p.P846P NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 846 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCCCTGGGCTGGGGTTTCCCC 0.572000 4 19 0 0 0.000602214 0 0 SFI1 9814 broad.mit.edu 37 22 31998226 31998226 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:31998226C>T ENST00000432498.1 + 15 1873 c.1480C>T c.(1480-1482)Ctc>Ttc p.L494F SFI1_ENST00000400288.2_Missense_Mutation_p.L525F|SFI1_ENST00000414585.1_Missense_Mutation_p.L372F|SFI1_ENST00000400289.1_Missense_Mutation_p.L443F|SFI1_ENST00000443011.1_Missense_Mutation_p.L372F|SFI1_ENST00000443326.1_Missense_Mutation_p.L443F|SFI1_ENST00000540643.1_Missense_Mutation_p.L470F NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 525 Interaction with CETN2. G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 AGTATTTTCTCTCTGGAGGCA 0.418000 62 235 0 0 0.000781405 0 0 NF2 4771 broad.mit.edu 37 22 30090780 30090780 + Nonsense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:30090780G>T ENST00000338641.4 + 16 2218 c.1777G>T c.(1777-1779)Gaa>Taa p.E593* NF2_ENST00000361452.4_3'UTR|NF2_ENST00000361166.4_3'UTR|NF2_ENST00000361676.4_3'UTR|NF2_ENST00000397789.3_3'UTR|NF2_ENST00000353887.4_3'UTR|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000413209.2_Nonsense_Mutation_p.E163* NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 593 actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 GGCCTTCTTTGAAGAGCTCTA 0.582000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 9 25 0.00136819 0.00603289 0.00136819 1 0 KIF2C 11004 broad.mit.edu 37 1 45220441 45220441 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:45220441C>T ENST00000372217.1 + 7 872 c.521C>T c.(520-522)cCa>cTa p.P174L KIF2C_ENST00000372218.4_Missense_Mutation_p.P187L|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_Missense_Mutation_p.P115L|KIF2C_ENST00000372224.4_Missense_Mutation_p.P228L Q99661 KIF2C_HUMAN kinesin family member 2C 228 Globular (Potential). blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding p.P228L(1) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) AGTAGTTTTCCAAACTGGGAA 0.433000 50 151 0 0 0.000781405 0 0 GBP5 115362 broad.mit.edu 37 1 89730507 89730507 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:89730507C>T ENST00000343435.5 - 8 1547 c.1011G>A c.(1009-1011)atG>atA p.M337I GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.M337I|RP4-620F22.2_ENST00000437128.1_RNA NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 337 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) CTTTCTGGCCCATTTGCTGGT 0.542000 23 60 0 0 0.00047179 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141092 143141092 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:143141092G>A ENST00000332690.1 + 1 547 c.547G>A c.(547-549)Gat>Aat p.D183N EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 183 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity p.D183N(1) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TGTCACTGGCGATAGCATACG 0.408000 21 103 0 0 0.00188189 0 0 HRH2 3274 broad.mit.edu 37 5 175111126 175111126 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:175111126C>T ENST00000231683.2 + 1 2663 c.890C>T c.(889-891)aCc>aTc p.T297I HRH2_ENST00000377291.2_Missense_Mutation_p.T297I NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 297 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) GACTTCCGCACCGGGTACCAA 0.572000 7 28 0 0 0.00198382 0 0 DAPK3 1613 broad.mit.edu 37 19 3964360 3964360 + Silent SNP G G A rs112082802 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:3964360G>A ENST00000545797.2 - 4 678 c.435C>T c.(433-435)atC>atT p.I145I DAPK3_ENST00000301264.3_Silent_p.I145I O43293 DAPK3_HUMAN death-associated protein kinase 3 145 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 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) CCAGCAGCATGATGTTTTCCG 0.622000 19 54 0 0 0.000375601 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815807 179815807 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:179815807G>A ENST00000367612.3 - 6 1199 c.812C>T c.(811-813)tCc>tTc p.S271F NM_001199260.1|NM_145034.4 NP_001186189.1|NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 271 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 CCACAGGAAGGAACTCTGGCC 0.512000 32 62 0 0 0.00058488 0 0 IL36A 27179 broad.mit.edu 37 2 113765525 113765525 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:113765525C>T ENST00000259211.6 + 4 792 c.381C>T c.(379-381)ttC>ttT p.F127F NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36, alpha 127 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 CTGGCTGGTTCATCGCTGTCA 0.507000 27 46 0 0 0.00106085 0 0 KALRN 8997 broad.mit.edu 37 3 124398310 124398310 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:124398310G>A ENST00000360013.3 + 51 7450 c.7323G>A c.(7321-7323)acG>acA p.T2441T KALRN_ENST00000428018.2_Silent_p.T712T|KALRN_ENST00000291478.4_Silent_p.T744T|KALRN_ENST00000462213.1_Silent_p.T58T NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2440 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 TCAAGGAGACGAACAGTTCCG 0.438000 62 138 0 0 0.000781405 0 0 PPRC1 23082 broad.mit.edu 37 10 103899634 103899634 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:103899634C>T ENST00000278070.2 + 5 1408 c.1369C>T c.(1369-1371)Cga>Tga p.R457* PPRC1_ENST00000413464.2_Nonsense_Mutation_p.R457* NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 457 Necessary for interaction with CREB1 and NRF1 and for transcriptional coactivation. 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) CCAGAGAGCTCGAAAGGGCAG 0.602000 11 62 0 0 0.00185496 0 0 GMPPA 29926 broad.mit.edu 37 2 220370708 220370708 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:220370708C>T ENST00000358215.3 + 11 1276 c.907C>T c.(907-909)Ccc>Tcc p.P303S AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.P303S|GMPPA_ENST00000373908.1_Missense_Mutation_p.P303S|GMPPA_ENST00000313597.5_Missense_Mutation_p.P303S|GMPPA_ENST00000373917.3_Missense_Mutation_p.P356S NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 303 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) ACAGCTGGGCCCCAACGTCTC 0.587000 4 10 0 0 0.000602214 0 0 ROCK2 9475 broad.mit.edu 37 2 11347856 11347856 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:11347856G>A ENST00000315872.6 - 20 2993 c.2545C>T c.(2545-2547)Cga>Tga p.R849* ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R606* NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 849 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) ACTTACTTTCGAAGTTCAGCA 0.284000 7 40 0 0 0.00198382 0 0 TTN 7273 broad.mit.edu 37 2 179396737 179396737 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179396737C>T ENST00000589042.1 - 358 104829 c.104605G>A c.(104605-104607)Gaa>Aaa p.E34869K TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25804K|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32301K|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25996K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25929K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33228K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33228 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) GTGTCATCTTCGTATTCCTCA 0.527000 7 18 0 0 0.00198382 0 0 IL7R 3575 broad.mit.edu 37 5 35876382 35876382 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:35876382G>A ENST00000303115.3 + 8 1303 c.1174G>A c.(1174-1176)Gag>Aag p.E392K IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 392 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AGACTGCAGGGAGAGTGGCAA 0.532000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 7 19 0 0 0.000157383 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140793982 140793982 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140793982C>T ENST00000398610.2 + 1 1240 c.1240C>T c.(1240-1242)Ctt>Ttt p.L414F PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACAGAGCCCTTGACAGGGA 0.438000 17 109 0 0 0.00074312 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36190931 36190931 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:36190931G>A ENST00000258840.6 - 16 2619 c.2229C>T c.(2227-2229)acC>acT p.T743T RALGAPA1_ENST00000389698.3_Silent_p.T743T|RALGAPA1_ENST00000382366.3_Silent_p.T743T|RALGAPA1_ENST00000307138.6_Silent_p.T743T|RALGAPA1_ENST00000554704.1_5'UTR Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 743 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 TCGCCTTTTCGGTTCCTGGAG 0.453000 18 70 0 0 0.00229938 0 0 TMEM131 23505 broad.mit.edu 37 2 98375372 98375372 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:98375372G>A ENST00000186436.5 - 40 5579 c.5351C>T c.(5350-5352)cCg>cTg p.P1784L NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1784 Ser-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 TGTGTGGGTCGGGGAGCCGGA 0.612000 4 10 0 0 0.000602214 0 0 ANTXR1 84168 broad.mit.edu 37 2 69409715 69409715 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:69409715G>A ENST00000303714.4 + 16 1598 c.1276G>A c.(1276-1278)Gaa>Aaa p.E426K NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 426 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GCAGGAATATGAATTCCCTGA 0.458000 Familial Infantile Hemangioma 19 100 0 0 0.00121646 0 0 EMC7 56851 broad.mit.edu 37 15 34376605 34376605 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:34376605G>A ENST00000256545.4 - 5 767 c.659C>T c.(658-660)tCa>tTa p.S220L NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 AGATGATTTTGAAGAGAAGAG 0.468000 13 81 0 0 0.000219431 0 0 GON4L 54856 broad.mit.edu 37 1 155723072 155723072 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:155723072G>A ENST00000437809.1 - 29 5887 c.5765C>T c.(5764-5766)cCa>cTa p.P1922L GON4L_ENST00000271883.5_Missense_Mutation_p.P1922L|GON4L_ENST00000368331.1_Missense_Mutation_p.P1922L Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1922 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CCGCTCCTCTGGGGCTTCCTC 0.602000 20 59 0 0 0.000958276 0 0 TECRL 253017 broad.mit.edu 37 4 65274970 65274970 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:65274970G>A ENST00000381210.3 - 1 210 c.100C>T c.(100-102)Cac>Tac p.H34Y TECRL_ENST00000507440.1_Missense_Mutation_p.H34Y NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 34 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 GACAAAAAGTGAAAATTTCTC 0.413000 16 71 0 0 0.000566183 0 0 LIFR 3977 broad.mit.edu 37 5 38530672 38530672 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:38530672G>A ENST00000263409.4 - 2 240 c.78C>T c.(76-78)ttC>ttT p.F26F LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.F26F NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 26 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) ACAGCCACTGGAAATTTGAAG 0.383000 T PLAG1 salivary adenoma 11 50 0 0 0.000673444 0 0 PDLIM1 9124 broad.mit.edu 37 10 97006972 97006972 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:97006972C>T ENST00000329399.6 - 5 793 c.685_splice c.e5+1 p.G229_splice PDLIM1_ENST00000477757.1_5'UTR NM_020992.2 NP_066272.1 O00151 PDLI1_HUMAN PDZ and LIM domain 1 229 response to oxidative stress cytoplasm|cytoskeleton zinc ion binding endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2) 10 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) AGCTGATTACCTTTTTCTTCA 0.473000 OREG0020387 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 94 0 0 0.000958276 0 0 RPTN 126638 broad.mit.edu 37 1 152128866 152128866 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:152128866C>T ENST00000316073.3 - 3 773 c.709G>A c.(709-711)Gat>Aat p.D237N NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 237 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TAATGAGAATCCTGAATTGGT 0.413000 18 101 0 0 0.00074312 0 0 FAM47A 158724 broad.mit.edu 37 X 34149583 34149583 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:34149583C>T ENST00000346193.3 - 1 864 c.813G>A c.(811-813)agG>agA p.R271R NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 271 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 CTTCCAGCTTCCTCTCAGAAT 0.582000 6 14 0 0 0.00198382 0 0 SLC10A2 6555 broad.mit.edu 37 13 103701670 103701670 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:103701670G>A ENST00000245312.3 - 5 1484 c.888C>T c.(886-888)ttC>ttT p.F296F NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 296 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGGCGAGCTGGAAAATGCTGT 0.443000 10 46 0 0 0.00136819 0 0 TCEB3C 162699 broad.mit.edu 37 18 44554605 44554605 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:44554605G>A ENST00000330682.2 - 1 1844 c.1609C>T c.(1609-1611)Cga>Tga p.R537* KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 537 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 TTGTAGTCTCGAATTGCCTTG 0.602000 22 755 0 0 0.00178596 0 0 NCOA3 8202 broad.mit.edu 37 20 46256410 46256410 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:46256410C>T ENST00000372004.3 + 7 854 c.638C>T c.(637-639)gCc>gTc p.A213V NCOA3_ENST00000341724.6_Missense_Mutation_p.A213V|NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000371997.3_Missense_Mutation_p.A213V|NCOA3_ENST00000371998.3_Missense_Mutation_p.A213V NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 213 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GACATAAACGCCAGTCCTGAA 0.433000 29 79 0 0 0.00127121 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98386522 98386522 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:98386522C>T ENST00000339364.5 - 10 1731 c.1612G>A c.(1612-1614)Gag>Aag p.E538K PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E360K|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.E137K NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 538 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) GCAGTGGTCTCTGGTCTGGGC 0.537000 8 34 0 0 0.000978159 0 0 TM4SF4 7104 broad.mit.edu 37 3 149193655 149193655 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:149193655T>C ENST00000305354.4 + 2 1124 c.220T>C c.(220-222)Tgc>Cgc p.C74R NM_004617.3 NP_004608.1 P48230 T4S4_HUMAN transmembrane 4 L six family member 4 74 integral to membrane large_intestine(3)|lung(4)|ovary(1)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GAACAATGACTGCTGTGGGTG 0.567000 10 8 0 0 0.000308642 0 0 DDX60L 91351 broad.mit.edu 37 4 169336629 169336629 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:169336629A>T ENST00000511577.1 - 22 3156 c.2909T>A c.(2908-2910)aTa>aAa p.I970K DDX60L_ENST00000260184.7_Missense_Mutation_p.I970K|DDX60L_ENST00000505890.1_Missense_Mutation_p.I970K Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 970 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TACTGAACATATATGCTTCTC 0.323000 9 29 0 0 0.000274275 0 0 RIN2 54453 broad.mit.edu 37 20 19981499 19981499 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:19981499C>T ENST00000255006.6 + 12 2903 c.2754C>T c.(2752-2754)ttC>ttT p.F918F RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Silent_p.F436F NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 869 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 CCCACATCTTCCACTTTGTCT 0.522000 10 46 0 0 0.000673444 0 0 MACF1 23499 broad.mit.edu 37 1 39800435 39800435 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:39800435G>A ENST00000564288.1 + 37 8952 c.8175G>A c.(8173-8175)caG>caA p.Q2725Q MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.Q1165Q|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Silent_p.Q2730Q|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Silent_p.Q2762Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2730 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) CATCTCATCAGGTGTTAAATG 0.383000 19 74 0 0 0.00121646 0 0 SH2D3A 10045 broad.mit.edu 37 19 6754887 6754887 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:6754887G>A ENST00000245908.6 - 5 1205 c.936C>T c.(934-936)caC>caT p.H312H SH2D3A_ENST00000437152.3_Silent_p.H190H NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 312 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 TCCCAGGATGGTGCTCCAGGA 0.652000 45 118 0 0 0.000680045 0 0 GCK 2645 broad.mit.edu 37 7 44228525 44228525 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:44228525C>T ENST00000403799.3 - 1 497 c.28G>A c.(28-30)Gcc>Acc p.A10T GCK_ENST00000476008.1_Intron|GCK_ENST00000437084.1_Missense_Mutation_p.A10T NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 10 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 TTCTTGGCGGCCTCCATCCTG 0.562000 49 328 0 0 0.000781405 0 0 NPAP1 23742 broad.mit.edu 37 15 24921521 24921521 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:24921521C>T ENST00000329468.2 + 1 981 c.507C>T c.(505-507)atC>atT p.I169I NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CGGTGCAGATCGAAGGGGAGG 0.612000 6 35 0 0 0.00198382 0 0 UPF1 5976 broad.mit.edu 37 19 18961604 18961604 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:18961604C>T ENST00000262803.5 + 5 1009 c.737C>T c.(736-738)cCc>cTc p.P246L UPF1_ENST00000599848.1_Missense_Mutation_p.P246L|UPF1_ENST00000600310.1_3'UTR NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 246 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 GTCAAGATCCCCTCCGAGCAG 0.652000 9 16 0 0 0.000673444 0 0 KCNH5 27133 broad.mit.edu 37 14 63175164 63175164 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:63175164G>A ENST00000322893.7 - 11 2297 c.2029C>T c.(2029-2031)Cgt>Tgt p.R677C KCNH5_ENST00000420622.2_Missense_Mutation_p.S611L NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 677 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.R677C(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTGATCTTACGAAAGATGATC 0.458000 9 61 0 0 0.000442599 0 0 TBL1X 6907 broad.mit.edu 37 X 9659683 9659683 + Silent SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:9659683C>A ENST00000217964.7 + 8 1321 c.681C>A c.(679-681)gtC>gtA p.V227V TBL1X_ENST00000407597.2_Silent_p.V227V|TBL1X_ENST00000424279.1_Silent_p.V176V|TBL1X_ENST00000536365.1_Silent_p.V176V|TBL1X_ENST00000380961.1_Silent_p.V176V NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 227 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) AAGCCACAGTCCTTCGGGGCC 0.522000 17 28 9.7654e-05 0.000434374 0.000958276 1 0 KIAA0319 9856 broad.mit.edu 37 6 24596521 24596521 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:24596521C>T ENST00000535378.1 - 4 996 c.354G>A c.(352-354)tcG>tcA p.S118S KIAA0319_ENST00000543707.1_Silent_p.S127S|KIAA0319_ENST00000430948.2_Silent_p.S82S|KIAA0319_ENST00000378214.3_Silent_p.S127S|KIAA0319_ENST00000537886.1_Silent_p.S127S NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 127 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 CCCAGATCCCCGAGGGGGAGC 0.552000 13 27 0 0 0.00185496 0 0 KIAA1804 84451 broad.mit.edu 37 1 233514903 233514903 + Silent SNP G G A rs67350624 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:233514903G>A ENST00000366624.3 + 9 2412 c.2151G>A c.(2149-2151)aaG>aaA p.K717K MLK4_ENST00000366622.1_Silent_p.K163K NM_032435.2 NP_115811.2 CCCAGAGAAAGAAAACGGAGT 0.542000 7 38 0 0 0.00198382 0 0 IGSF22 283284 broad.mit.edu 37 11 18730994 18730994 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:18730994C>T ENST00000513874.1 - 18 3077 c.2938G>A c.(2938-2940)Gag>Aag p.E980K RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 879 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 ACCCCAGCCTCATTCACAGCC 0.577000 40 71 0 0 0.000781405 0 0 AK7 122481 broad.mit.edu 37 14 96944872 96944872 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:96944872C>T ENST00000267584.4 + 15 1670 c.1626C>T c.(1624-1626)atC>atT p.I542I NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 542 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CTGAGAGCATCGTGGCGGGGA 0.517000 19 78 0 0 0.00188189 0 0 PRRC2A 7916 broad.mit.edu 37 6 31601235 31601235 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:31601235C>T ENST00000376033.2 + 17 4633 c.4399C>T c.(4399-4401)Caa>Taa p.Q1467* PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.Q1467* NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1467 4 X 57 AA type A repeats. 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 CCGCCTGGACCAAGTTATCCA 0.602000 20 37 0 0 0.00152264 0 0 NAP1L4 4676 broad.mit.edu 37 11 2981045 2981045 + Missense_Mutation SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:2981045G>C ENST00000380542.4 - 9 841 c.701C>G c.(700-702)gCt>gGt p.A234G NAP1L4_ENST00000526115.1_Missense_Mutation_p.A234G NM_005969.3 NP_005960.1 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 234 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 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;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) AAAGGGATCAGCCTTATCTGG 0.368000 31 415 0 0 0.000692331 0 0 ABCA8 10351 broad.mit.edu 37 17 66898931 66898931 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:66898931G>A ENST00000269080.2 - 19 2704 c.2567C>T c.(2566-2568)tCt>tTt p.S856F ABCA8_ENST00000586539.1_Missense_Mutation_p.S896F|ABCA8_ENST00000430352.2_Missense_Mutation_p.S896F NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 856 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) CAAATGAGGAGAAAGTTCCCA 0.383000 31 44 0 0 0.00178596 0 0 ZNF846 162993 broad.mit.edu 37 19 9868407 9868407 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9868407G>A ENST00000397902.2 - 6 1759 c.1346C>T c.(1345-1347)gCc>gTc p.A449V ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 ACATTCACAGGCCTTTTCTCC 0.433000 17 58 0 0 0.00121646 0 0 CMYA5 202333 broad.mit.edu 37 5 79025289 79025289 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:79025289C>T ENST00000446378.2 + 2 732 c.701C>T c.(700-702)tCg>tTg p.S234L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 234 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) ATGTTTAATTCGGTTAAAGAA 0.323000 9 37 0 0 0.000442599 0 0 DAGLA 747 broad.mit.edu 37 11 61504722 61504722 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:61504722C>T ENST00000257215.5 + 14 1556 c.1440C>T c.(1438-1440)atC>atT p.I480I NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 480 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) CTGCTGCCATCCTCTCCTTCC 0.647000 60 129 0 0 0.000781405 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209950737 209950737 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:209950737G>A ENST00000367024.1 + 12 1610 c.1094G>A c.(1093-1095)cGa>cAa p.R365Q TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R365Q Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 365 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) CAGGCCCTGCGATTTTTGGAA 0.537000 7 28 0 0 0.000157383 0 0 MCTP1 79772 broad.mit.edu 37 5 94248532 94248532 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:94248532C>T ENST00000515393.1 - 9 1499 c.1500G>A c.(1498-1500)ggG>ggA p.G500G MCTP1_ENST00000505078.1_Silent_p.G16G|MCTP1_ENST00000312216.8_Silent_p.G279G|MCTP1_ENST00000429576.2_Silent_p.G233G|MCTP1_ENST00000505208.1_Silent_p.G279G NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 500 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) ACTTCTGATGCCCAAGCCGGA 0.468000 13 43 0 0 0.000422831 0 0 FAM217B 63939 broad.mit.edu 37 20 58519530 58519530 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:58519530C>T ENST00000358293.3 + 5 947 c.532C>T c.(532-534)Ctt>Ttt p.L178F FAM217B_ENST00000360816.3_Missense_Mutation_p.L178F|FAM217B_ENST00000469084.1_3'UTR NM_001190826.1 NP_001177755.1 Q9NTX9 CT177_HUMAN family with sequence similarity 217, member B 178 GGGAGGACTTCTTGGGAAGTA 0.532000 20 43 0 0 0.000586117 0 0 ZNF35 7584 broad.mit.edu 37 3 44692677 44692677 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:44692677T>C ENST00000396056.2 + 2 353 c.118T>C c.(118-120)Tcc>Ccc p.S40P RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_Missense_Mutation_p.S40P|ZNF35_ENST00000453164.1_Missense_Mutation_p.S40P|ZNF35_ENST00000399560.2_Missense_Mutation_p.S40P|ZNF35_ENST00000542250.1_5'UTR NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 40 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) ACAAGTGCACTCCGAGAACAT 0.547000 12 53 0 0 0.00185496 0 0 OR1J2 26740 broad.mit.edu 37 9 125273126 125273126 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:125273126G>A ENST00000335302.5 + 1 46 c.46G>A c.(46-48)Ggc>Agc p.G16S NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 16 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 CCTCCTTCTGGGCCTCCCCAT 0.557000 33 65 0 0 0.00222228 0 0 LAMA5 3911 broad.mit.edu 37 20 60902685 60902685 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:60902685C>T ENST00000252999.3 - 37 4904 c.4838G>A c.(4837-4839)gGg>gAg p.G1613E NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1613 Laminin EGF-like 15. 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) TGAGAAGGTCCCAAGGCTGCA 0.642000 5 49 0 0 0.00116845 0 0 CLCNKA 1187 broad.mit.edu 37 1 16355752 16355752 + Silent SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:16355752G>T ENST00000375692.1 + 13 1313 c.1185G>T c.(1183-1185)cgG>cgT p.R395R CLCNKA_ENST00000331433.4_Silent_p.R395R|CLCNKA_ENST00000420078.1_Silent_p.R395R|CLCNKA_ENST00000439316.2_Silent_p.R352R|CLCNKA_ENST00000464764.1_3'UTR P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 395 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 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) Niflumic Acid(DB04552) ACCACCCGCGGTTCACCATCT 0.642000 20 64 4.7796e-09 2.13743e-08 0.000720815 1 0 DPPA4 55211 broad.mit.edu 37 3 109050829 109050829 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:109050829C>T ENST00000335658.6 - 3 282 c.228G>A c.(226-228)caG>caA p.Q76Q DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 76 nucleus protein binding p.Q76Q(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 GTATCTTCTTCTGAGGTCTGG 0.458000 25 108 0 0 0.000586117 0 0 MN1 4330 broad.mit.edu 37 22 28192897 28192897 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:28192897C>T ENST00000302326.4 - 1 4589 c.3635G>A c.(3634-3636)aGc>aAc p.S1212N NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1212 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GTCAATGGTGCTCATGGCGCT 0.662000 T ETV6 """AML, meningioma""" 18 41 0 0 0.00074312 0 0 MYOM3 127294 broad.mit.edu 37 1 24410969 24410969 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:24410969G>A ENST00000330966.7 - 16 2124 c.1962C>T c.(1960-1962)atC>atT p.I654I MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.I653I|MYOM3_ENST00000329601.7_Silent_p.I653I|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 653 Fibronectin type-III 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) TGGTGCCTTGGATGGGTTTGT 0.468000 26 116 0 0 0.00178596 0 0 ZIK1 284307 broad.mit.edu 37 19 58101610 58101610 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:58101610C>T ENST00000597850.1 + 4 646 c.431C>T c.(430-432)tCc>tTc p.S144F ZIK1_ENST00000599456.1_Missense_Mutation_p.S89F|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.S131F NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 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;0.0257) GCAAAGAAATCCTTGAAGAGG 0.463000 24 40 0 0 0.00229938 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140802612 140802612 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140802612C>T ENST00000398587.2 + 1 1851 c.1818C>T c.(1816-1818)tcC>tcT p.S606S PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.S606S|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGCTGTCCTATCGCCTGC 0.667000 12 67 0 0 0.00136819 0 0 DAPK2 23604 broad.mit.edu 37 15 64218259 64218259 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:64218259C>T ENST00000261891.3 - 7 698 c.693G>A c.(691-693)acG>acA p.T231T DAPK2_ENST00000558069.1_Silent_p.T231T|DAPK2_ENST00000457488.1_Silent_p.T231T Q9UIK4 DAPK2_HUMAN death-associated protein kinase 2 231 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) TTTCCTGCTTCGTGTCTCCCA 0.488000 8 59 0 0 0.000157383 0 0 GPR107 57720 broad.mit.edu 37 9 132866738 132866738 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:132866738G>A ENST00000372406.1 + 13 1678 c.1171G>A c.(1171-1173)Gag>Aag p.E391K GPR107_ENST00000347136.6_Missense_Mutation_p.E391K|GPR107_ENST00000372410.3_Missense_Mutation_p.E391K NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 391 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) AGAGTCCACCGAGGAGGGCAC 0.517000 15 25 0 0 0.000566183 0 0 ACMSD 130013 broad.mit.edu 37 2 135621039 135621039 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:135621039C>T ENST00000356140.5 + 5 460 c.324C>T c.(322-324)ccC>ccT p.P108P ACMSD_ENST00000283054.4_Silent_p.P50P|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Silent_p.P50P NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 108 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) TGAGCTACCCCAGGAGGTTCG 0.587000 31 76 0 0 0.00178596 0 0 OR4D2 124538 broad.mit.edu 37 17 56247718 56247718 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:56247718G>A ENST00000545221.1 + 1 702 c.702G>A c.(700-702)agG>agA p.R234R NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 234 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 AGGCAAGAAGGAAGGCAGCTT 0.537000 22 41 0 0 0.00188189 0 0 KCNS3 3790 broad.mit.edu 37 2 18112486 18112486 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:18112486C>T ENST00000403915.1 + 3 662 c.211C>T c.(211-213)Cgg>Tgg p.R71W KCNS3_ENST00000304101.4_Missense_Mutation_p.R71W|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 71 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTACTTTGATCGGAATCCCTC 0.468000 11 84 0 0 0.000673444 0 0 ADCY8 114 broad.mit.edu 37 8 131964149 131964149 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 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) 7 23 0 0 0.000157383 0 0 NUP188 23511 broad.mit.edu 37 9 131762069 131762069 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:131762069G>A ENST00000372577.2 + 34 3849 c.3828G>A c.(3826-3828)agG>agA p.R1276R NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1276 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 CCCGGCACAGGGACCAGCGTG 0.587000 13 23 0 0 0.000308642 0 0 CXCR1 3577 broad.mit.edu 37 2 219029590 219029590 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:219029590G>A ENST00000295683.2 - 2 465 c.345C>T c.(343-345)ctC>ctT p.L115L NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 115 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 CTTCCTTCAGGAGTGAGACCA 0.562000 12 37 0 0 0.000219431 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39279858 39279858 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:39279858G>A ENST00000394014.1 - 1 561 c.517C>T c.(517-519)Cga>Tga p.R173* NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 173 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CAGGAGACTCGGCCACAGACT 0.637000 7 11 0 0 0.000157383 0 0 ZW10 9183 broad.mit.edu 37 11 113629350 113629350 + Missense_Mutation SNP G G A rs145015648 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:113629350G>A ENST00000200135.3 - 6 803 c.659C>T c.(658-660)cCt>cTt p.P220L NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 220 Interaction with RINT1. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) GGGTGGCATAGGGGTCTTCTC 0.383000 10 16 0 0 0.000442599 0 0 TTN 7273 broad.mit.edu 37 2 179558413 179558413 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179558413G>A ENST00000589042.1 - 119 31741 c.31517C>T c.(31516-31518)cCc>cTc p.P10506L TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9262L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10189L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10189 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) TTGTACCTCGGGGACTTAAAA 0.313000 6 21 0 0 0.00198382 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12883539 12883539 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:12883539C>T ENST00000379672.5 + 19 2228 c.1928C>T c.(1927-1929)aCc>aTc p.T643I ARHGAP44_ENST00000340825.3_Missense_Mutation_p.T637I|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.T643I NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 643 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 AGTCCTCACACCCTCCGGAAA 0.627000 6 25 0 0 0.000673444 0 0 SLC36A4 120103 broad.mit.edu 37 11 92918857 92918857 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:92918857G>A ENST00000326402.4 - 2 309 c.179_splice c.e2+1 p.S60_splice SLC36A4_ENST00000529184.1_5'UTR NM_152313.2 NP_689526.2 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid symporter), member 4 60 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TAACACTTACGAAATGCCCTC 0.348000 148 229 0 0 0.000781405 0 0 ADSL 158 broad.mit.edu 37 22 40742611 40742611 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:40742611C>T ENST00000216194.7 + 1 105 c.49C>T c.(49-51)Ctt>Ttt p.L17F ADSL_ENST00000454266.2_Missense_Mutation_p.L17F|ADSL_ENST00000342312.6_Missense_Mutation_p.L17F NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase 17 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 CCGCTCACCTCTTGCCTCCCG 0.647000 4 17 0 0 0.000602214 0 0 MYH13 8735 broad.mit.edu 37 17 10258228 10258228 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:10258228C>T ENST00000418404.3 - 9 1048 c.885G>A c.(883-885)aaG>aaA p.K295K MYH13_ENST00000252172.4_Silent_p.K295K|MYH13_ENST00000570743.1_Silent_p.K295K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 295 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 GTTCTGGCTTCTTGTTTGACA 0.343000 16 34 0 0 0.000566183 0 0 CNST 163882 broad.mit.edu 37 1 246810883 246810883 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:246810883C>T ENST00000366513.4 + 9 1649 c.1380C>T c.(1378-1380)ctC>ctT p.L460L CNST_ENST00000366512.3_Silent_p.L460L|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 460 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 GGAAAGAACTCCGTTTGCCAC 0.478000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 155 0 0 0.000781405 0 0 CCR8 1237 broad.mit.edu 37 3 39374497 39374497 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:39374497G>A ENST00000326306.4 + 2 813 c.675G>A c.(673-675)ctG>ctA p.L225L CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Silent_p.L142L NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 225 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TGCACCAGCTGAAGAGGTGTC 0.418000 9 49 0 0 0.00185496 0 0 TMEM67 91147 broad.mit.edu 37 8 94809567 94809567 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:94809567G>A ENST00000453321.3 + 20 2027 c.1969G>A c.(1969-1971)Ggt>Agt p.G657S TMEM67_ENST00000409623.3_Missense_Mutation_p.G576S NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 657 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AGGTGAGGGTGGTGTACGAAG 0.348000 12 71 0 0 0.000308642 0 0 ESR2 2100 broad.mit.edu 37 14 64735585 64735585 + Missense_Mutation SNP C C T rs145278854 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:64735585C>T ENST00000557772.1 - 3 579 c.580G>A c.(580-582)Gat>Aat p.D194N ESR2_ENST00000358599.5_Missense_Mutation_p.D194N|ESR2_ENST00000357782.2_Missense_Mutation_p.D194N|ESR2_ENST00000542956.1_Missense_Mutation_p.D194N|ESR2_ENST00000554572.1_Missense_Mutation_p.D194N|ESR2_ENST00000353772.3_Missense_Mutation_p.D194N|ESR2_ENST00000553796.1_Missense_Mutation_p.D194N|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Missense_Mutation_p.D194N|ESR2_ENST00000341099.4_Missense_Mutation_p.D194N|ESR2_ENST00000555278.1_Missense_Mutation_p.D194N NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 194 cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CGGTTTTTATCGATTGTACAC 0.423000 26 98 0 0 0.00106085 0 0 ASTL 431705 broad.mit.edu 37 2 96799745 96799745 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:96799745C>T ENST00000342380.2 - 4 295 c.296G>A c.(295-297)aGt>aAt p.S99N NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 99 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CACGACACCACTACCACCCAT 0.612000 9 45 0 0 0.00136819 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629272 9629272 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:9629272G>A ENST00000382492.2 - 1 1191 c.873C>T c.(871-873)ttC>ttT p.F291F CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 291 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 TGTGGAGGAGGAACTTTTTTG 0.403000 13 53 0 0 0.000308642 0 0 FLNC 2318 broad.mit.edu 37 7 128484164 128484164 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:128484164C>T ENST00000325888.8 + 20 3297 c.3036C>T c.(3034-3036)ccC>ccT p.P1012P FLNC_ENST00000346177.6_Silent_p.P1012P NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1012 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 GGCCCATCCCCTGCAAGCTGG 0.642000 4 42 0 0 0.000602214 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813572 106813572 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:106813572C>T ENST00000407775.2 + 8 1512 c.1262C>T c.(1261-1263)cCc>cTc p.P421L RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P289L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P152L|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P289L|RP11-152P17.2_ENST00000524045.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 421 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) AGCGAACTTCCCCAGAGCCAA 0.498000 4 20 0 0 0.00024832 0 0 TTN 7273 broad.mit.edu 37 2 179606422 179606422 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179606422G>A ENST00000589042.1 - 48 11762 c.11538C>T c.(11536-11538)atC>atT p.I3846I TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I3483I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.I3675I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.I3608I|TTN_ENST00000591111.1_Silent_p.I3529I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3529 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) TAGGTTTGGGGATGCCAATGA 0.423000 22 47 0 0 0.000720815 0 0 TSIX 9383 broad.mit.edu 37 X 73041824 73041824 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:73041824G>A ENST00000604411.1 + 0 29785 XIST_ENST00000429829.1_lincRNA NR_003255.2 CGTTATCTGAGGATTGTTTCT 0.333000 6 12 0 0 0.00198382 0 0 NEXN 91624 broad.mit.edu 37 1 78392407 78392407 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:78392407G>A ENST00000330010.8 + 7 799 c.502G>A c.(502-504)Gaa>Aaa p.E168K NEXN_ENST00000334785.7_Missense_Mutation_p.E232K|NEXN_ENST00000457030.1_Missense_Mutation_p.E218K NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 232 Glu-rich. 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) TTAGGATGATGAAATAGAAAG 0.338000 46 172 0 0 0.000781405 0 0 CLASP1 23332 broad.mit.edu 37 2 122227479 122227479 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:122227479G>A ENST00000263710.4 - 9 1159 c.770C>T c.(769-771)tCt>tTt p.S257F CLASP1_ENST00000409078.3_Missense_Mutation_p.S257F|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000455322.2_Missense_Mutation_p.S257F|CLASP1_ENST00000541859.1_Missense_Mutation_p.S26F|CLASP1_ENST00000541377.1_Missense_Mutation_p.S257F|CLASP1_ENST00000545861.1_Missense_Mutation_p.S25F|CLASP1_ENST00000397587.3_Missense_Mutation_p.S257F NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 257 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) GGATGATGTAGAACTAGCAGA 0.443000 20 69 0 0 0.00047179 0 0 NEK10 152110 broad.mit.edu 37 3 27203969 27203969 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:27203969C>T ENST00000429845.2 - 32 3355 c.2993G>A c.(2992-2994)cGa>cAa p.R998Q NEK10_ENST00000383770.3_Intron|NEK10_ENST00000383771.4_Missense_Mutation_p.R310Q|NEK10_ENST00000295720.6_Missense_Mutation_p.R310Q|NEK10_ENST00000498182.1_Intron|NEK10_ENST00000357467.2_Missense_Mutation_p.R395Q Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 998 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 TTTGAGATTTCGAAGAATCAC 0.458000 23 68 0 0 0.000375601 0 0 GOT2 2806 broad.mit.edu 37 16 58757769 58757769 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:58757769G>A ENST00000245206.5 - 2 255 c.127C>T c.(127-129)Ccc>Tcc p.P43S GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.P43S NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 43 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCCAGAATGGGATCTGGAGGT 0.448000 20 102 0 0 0.00152264 0 0 KRT5 3852 broad.mit.edu 37 12 52913627 52913627 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:52913627G>A ENST00000252242.4 - 1 844 c.454C>T c.(454-456)Ccc>Tcc p.P152S NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 152 Head. P -> L (in WC-EBS; dbSNP:rs60617604). epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) AGGTTGAGGGGAGTCAGGAGA 0.577000 31 51 0 0 0.000692331 0 0 ADAM12 8038 broad.mit.edu 37 10 127760159 127760159 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:127760159C>T ENST00000368679.4 - 12 1528 c.1219G>A c.(1219-1221)Gga>Aga p.G407R ADAM12_ENST00000368676.4_Missense_Mutation_p.G407R NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 407 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 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) ACCCCCATTCCTTTCTCCAGG 0.542000 11 41 0 0 0.000673444 0 0 DSP 1832 broad.mit.edu 37 6 7580528 7580528 + Missense_Mutation SNP G G A rs141805096 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:7580528G>A ENST00000379802.3 + 23 4446 c.4105G>A c.(4105-4107)Gag>Aag p.E1369K DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1369 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) GTTTGAGACCGAGATCAACAT 0.463000 34 44 0 0 0.000692331 0 0 BROX 148362 broad.mit.edu 37 1 222904715 222904715 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:222904715C>T ENST00000340934.5 + 12 1412 c.1006C>T c.(1006-1008)Cca>Tca p.P336S BROX_ENST00000537020.1_Intron|BROX_ENST00000539697.1_Missense_Mutation_p.P304S NM_144695.2 NP_653296.2 Q5VW32 BROX_HUMAN BRO1 domain and CAAX motif containing 336 BRO1. membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 TCAAAAAATTCCAACAGAAGC 0.373000 20 229 0 0 0.000375601 0 0 GMPS 8833 broad.mit.edu 37 3 155629027 155629027 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:155629027C>T ENST00000496455.1 + 7 1180 c.845C>T c.(844-846)tCt>tTt p.S282F GMPS_ENST00000295920.7_Missense_Mutation_p.S183F NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 282 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAAAGCCAGTCTGTTGAAGAG 0.378000 T MLL AML 12 36 0 0 0.000978159 0 0 FBN2 2201 broad.mit.edu 37 5 127681084 127681084 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:127681084C>T ENST00000508053.1 - 30 4156 c.3182G>A c.(3181-3183)cGa>cAa p.R1061Q FBN2_ENST00000262464.4_Missense_Mutation_p.R1061Q|FBN2_ENST00000508989.1_Missense_Mutation_p.R1028Q P35556 FBN2_HUMAN fibrillin 2 1061 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) AACATCCCCTCGGTTAGCAAA 0.607000 19 89 0 0 0.000586117 0 0 MYH7B 57644 broad.mit.edu 37 20 33575008 33575008 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:33575008C>T ENST00000262873.7 + 14 1283 c.1191C>T c.(1189-1191)atC>atT p.I397I NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 355 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GCTATAAGATCGTGGGCGCCC 0.597000 31 135 0 0 0.00209593 0 0 RYR1 6261 broad.mit.edu 37 19 38987159 38987159 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:38987159G>A ENST00000355481.4 + 41 6905 c.6774G>A c.(6772-6774)ctG>ctA p.L2258L RYR1_ENST00000360985.3_Silent_p.L2258L|RYR1_ENST00000359596.3_Silent_p.L2258L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2258 6 X approximate repeats. 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) GCTACCTGCTGGAGAACAGTG 0.632000 39 58 0 0 0.000781405 0 0 SLC7A9 11136 broad.mit.edu 37 19 33353095 33353095 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:33353095G>A ENST00000023064.4 - 6 824 c.633C>T c.(631-633)ttC>ttT p.F211F SLC7A9_ENST00000590341.1_Silent_p.F211F|SLC7A9_ENST00000587772.1_Silent_p.F211F NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 211 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding p.F211F(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) GGGCGCCCTCGAAAGAATTAT 0.517000 27 55 0 0 0.000878237 0 0 GEMIN5 25929 broad.mit.edu 37 5 154292583 154292583 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:154292583G>A ENST00000285873.7 - 14 1946 c.1871C>T c.(1870-1872)tCt>tTt p.S624F NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 624 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) GGTCACTGGAGACTCAGGGCT 0.483000 10 42 0 0 0.00185496 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22349655 22349655 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:22349655G>A ENST00000405243.1 - 4 527 c.444C>T c.(442-444)ttC>ttT p.F148F RAPGEF5_ENST00000344041.6_5'UTR Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 0 N-terminal Ras-GEF. 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 TGCACTGGACGAAAGGACAGT 0.463000 12 51 0 0 0.000219431 0 0 SULT6B1 391365 broad.mit.edu 37 2 37410652 37410652 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:37410652C>T ENST00000535679.1 - 3 317 c.318G>A c.(316-318)atG>atA p.M106I SULT6B1_ENST00000407963.1_Missense_Mutation_p.M68I|SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.M68I Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 106 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) GAAAGCCTTTCATTCTCTTAA 0.403000 13 76 0 0 0.00185496 0 0 NRG1 3084 broad.mit.edu 37 8 32617801 32617801 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:32617801G>A ENST00000338921.4 + 12 1686 c.1169G>A c.(1168-1170)aGc>aAc p.S390N NRG1_ENST00000287842.3_Missense_Mutation_p.S379N|NRG1_ENST00000523079.1_Missense_Mutation_p.S379N|NRG1_ENST00000356819.4_Missense_Mutation_p.S387N|NRG1_ENST00000287845.5_Missense_Mutation_p.S353N|NRG1_ENST00000287840.5_Missense_Mutation_p.S382N|NRG1_ENST00000521670.1_Missense_Mutation_p.S382N|NRG1_ENST00000405005.2_Missense_Mutation_p.S382N|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.S332N|NRG1_ENST00000539990.1_Missense_Mutation_p.S225N Q02297 NRG1_HUMAN neuregulin 1 382 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) AGTAGGCACAGCAGCCCAACT 0.537000 8 130 0 0 0.000274275 0 0 PITPNC1 26207 broad.mit.edu 37 17 65628352 65628352 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:65628352G>A ENST00000580974.1 + 6 1156 c.460G>A c.(460-462)Gag>Aag p.E154K PITPNC1_ENST00000581322.1_Missense_Mutation_p.E154K|PITPNC1_ENST00000299954.9_Missense_Mutation_p.E154K|PITPNC1_ENST00000335257.6_Missense_Mutation_p.E154K NM_012417.3|NM_181671.2 NP_036549.2|NP_858057.1 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 154 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) CAAAGAATCTGAGGTAAGCAA 0.408000 13 39 0 0 0.000219431 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394590 233394590 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:233394590C>T ENST00000258229.8 - 5 1252 c.1018G>A c.(1018-1020)Gac>Aac p.D340N PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 340 integral to membrane p.D340N(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) AAGGGCAGGTCCCCCTGGCAG 0.572000 9 66 0 0 0.000274275 0 0 TMEM130 222865 broad.mit.edu 37 7 98460902 98460902 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:98460902G>A ENST00000339375.4 - 2 381 c.207C>T c.(205-207)ctC>ctT p.L69L TMEM130_ENST00000450876.1_5'UTR|TMEM130_ENST00000416379.2_Silent_p.L69L|TMEM130_ENST00000546258.1_Silent_p.L50L|TMEM130_ENST00000345589.4_Intron NM_001134450.1|NM_152913.2 NP_001127922.1|NP_690877.1 Q8N3G9 TM130_HUMAN transmembrane protein 130 69 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGAAGCGGTAGAGGTGGGCGT 0.667000 9 34 0 0 0.000442599 0 0 DDX28 55794 broad.mit.edu 37 16 68055780 68055780 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:68055780G>A ENST00000332395.5 - 1 1990 c.1326C>T c.(1324-1326)tcC>tcT p.S442S NM_018380.3 NP_060850.2 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 442 Helicase C-terminal. mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) TCTTCTGGAAGGACTGGAAGA 0.517000 18 40 0 0 0.00229938 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540977 133540977 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:133540977C>T ENST00000409261.1 - 14 3780 c.3407G>A c.(3406-3408)aGt>aAt p.S1136N NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1136N NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1136 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 CTCATGAGCACTTTGACAACC 0.502000 34 135 0 0 0.00170553 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003965 34003965 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:34003965C>T ENST00000382491.3 - 28 4045 c.3921G>A c.(3919-3921)agG>agA p.R1307R SYNJ1_ENST00000433931.2_Silent_p.R1393R|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Silent_p.R1354R|SYNJ1_ENST00000382499.2_3'UTR NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1354 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 ACTGAATCAACCTCTTTGGGT 0.448000 10 56 0 0 0.000673444 0 0 FREM2 341640 broad.mit.edu 37 13 39263937 39263937 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:39263937C>T ENST00000280481.7 + 1 2672 c.2456C>T c.(2455-2457)aCc>aTc p.T819I NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 819 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) GGTACCTTTACCCTTTACTTG 0.562000 8 45 0 0 0.000157383 0 0 RBP3 5949 broad.mit.edu 37 10 48389378 48389378 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:48389378C>T ENST00000224600.4 - 1 1613 c.1500G>A c.(1498-1500)gaG>gaA p.E500E NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 500 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) CGGGGCCGGCCTCAGGGCCCT 0.652000 7 35 0 0 0.000442599 0 0 TRPC5 7224 broad.mit.edu 37 X 111090344 111090344 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:111090344G>A ENST00000262839.2 - 6 2616 c.1698C>T c.(1696-1698)tcC>tcT p.S566S NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 566 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 CGTCTTACGTGGAGAAGGCAT 0.403000 25 55 0 0 0.000878237 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725700 140725700 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140725700C>T ENST00000253812.6 + 1 2100 c.2100C>T c.(2098-2100)gtC>gtT p.V700V PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCCGCGGTCTCCTGCGTCT 0.682000 24 102 0 0 0.00058488 0 0 RELN 5649 broad.mit.edu 37 7 103214584 103214584 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:103214584C>T ENST00000428762.1 - 30 4625 c.4466G>A c.(4465-4467)gGg>gAg p.G1489E RELN_ENST00000343529.5_Missense_Mutation_p.G1489E|RELN_ENST00000424685.2_Missense_Mutation_p.G1489E NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1489 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) TTCCCTTTTCCCAGGGCCATT 0.473000 34 120 0 0 0.000680045 0 0 IGSF9 57549 broad.mit.edu 37 1 159901688 159901688 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:159901688C>T ENST00000368094.1 - 11 1473 c.1276G>A c.(1276-1278)Gaa>Aaa p.E426K IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.E410K NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 426 Ig-like 5. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) AAATATTCTTCCTTGGGCCGC 0.577000 13 68 0 0 0.000219431 0 0 CYP19A1 1588 broad.mit.edu 37 15 51504608 51504608 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:51504608C>T ENST00000396402.1 - 9 1325 c.1172G>A c.(1171-1173)gGg>gAg p.G391E CYP19A1_ENST00000260433.2_Missense_Mutation_p.G391E|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.G391E|CYP19A1_ENST00000559878.1_Missense_Mutation_p.G391E NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 391 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) AATGTTTGTCCCCTTTTTCAC 0.423000 15 76 0 0 0.000422831 0 0 MED15 51586 broad.mit.edu 37 22 20929493 20929493 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:20929493C>T ENST00000263205.7 + 9 1315 c.1246C>T c.(1246-1248)Cct>Tct p.P416S MED15_ENST00000382974.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000478831.1_Intron NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 416 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) AAGCTCCATCCCTTTGGGCAG 0.627000 22 44 0 0 0.00229938 0 0 TAS1R1 80835 broad.mit.edu 37 1 6615455 6615455 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:6615455C>T ENST00000333172.6 + 1 215 c.22C>T c.(22-24)Ctg>Ttg p.L8L TAS1R1_ENST00000351136.3_Silent_p.L8L|TAS1R1_ENST00000328191.4_Silent_p.L8L NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 8 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CACGGCTCGCCTGGTCGGCCT 0.617000 10 17 0 0 0.000673444 0 0 SAP130 79595 broad.mit.edu 37 2 128699646 128699646 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:128699646C>T ENST00000357702.5 - 21 3317 c.3186G>A c.(3184-3186)ctG>ctA p.L1062L SAP130_ENST00000259235.3_Silent_p.L1027L|SAP130_ENST00000259234.6_Silent_p.L1035L NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 1027 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) TAAGCAGCTTCAGGACACGGT 0.403000 25 79 0 0 0.000720815 0 0 GYS2 2998 broad.mit.edu 37 12 21757457 21757457 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:21757457G>A ENST00000261195.2 - 1 324 c.70C>T c.(70-72)Cct>Tct p.P24S NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 24 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCCTCCACAGGAAGTTCTTCG 0.502000 9 29 0 0 0.000442599 0 0 NCAM1 4684 broad.mit.edu 37 11 113131041 113131041 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:113131041C>T ENST00000316851.7 + 15 2097 c.2097C>T c.(2095-2097)atC>atT p.I699I NCAM1_ENST00000533760.1_Silent_p.I581I|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 709 Fibronectin type-III 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CCACAGCCATCCCAGGTATGG 0.522000 19 33 0 0 0.00188189 0 0 ASPG 374569 broad.mit.edu 37 14 104570766 104570766 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:104570766C>T ENST00000551177.1 + 8 971 c.879C>T c.(877-879)atC>atT p.I293I ASPG_ENST00000455920.2_Silent_p.I293I|ASPG_ENST00000546892.2_Silent_p.I293I NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 293 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 GCCTGGTCATCGTCAACTGTA 0.652000 8 36 0 0 0.000442599 0 0 NOTCH4 4855 broad.mit.edu 37 6 32185036 32185036 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:32185036G>A ENST00000375023.3 - 10 1770 c.1632C>T c.(1630-1632)tcC>tcT p.S544S NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 544 EGF-like 13; 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 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 ATCGGGTGCCGGAGAATCCTG 0.612000 55 101 0 0 0.000781405 0 0 PKIA 5569 broad.mit.edu 37 8 79510749 79510749 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:79510749G>A ENST00000396418.2 + 3 616 c.130G>A c.(130-132)Ggt>Agt p.G44S PKIA_ENST00000518467.1_Missense_Mutation_p.G44S|PKIA_ENST00000352966.5_Missense_Mutation_p.G44S NM_006823.3|NM_181839.2 NP_006814.1|NP_862822.1 P61925 IPKA_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor alpha 44 cAMP-dependent protein kinase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 6 GAAATTAGCAGGTCTTGATAT 0.393000 17 57 0 0 0.00188189 0 0 BMP8B 656 broad.mit.edu 37 1 40230324 40230324 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:40230324G>T ENST00000372827.3 - 4 1214 c.839C>A c.(838-840)cCg>cAg p.P280Q BMP8B_ENST00000397360.2_Missense_Mutation_p.P305Q NM_001720.3 NP_001711.2 P34820 BMP8B_HUMAN bone morphogenetic protein 8b 280 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity endometrium(1)|liver(1)|ovary(1)|urinary_tract(1) 4 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GTTGGCCTGCGGCAGCTCGTT 0.647000 5 94 0.00198382 0.0087276 0.00198382 1 0 COCH 1690 broad.mit.edu 37 14 31354198 31354198 + Silent SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:31354198A>G ENST00000382493.4 + 3 337 c.237A>G c.(235-237)gcA>gcG p.A79A COCH_ENST00000396618.3_Intron|COCH_ENST00000475087.1_Intron|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000460581.2_Intron|COCH_ENST00000216361.4_Intron O43405 COCH_HUMAN cochlin 244 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) CAGATGTGGCAGAAAGAATGA 0.383000 16 69 0 0 0.000422831 0 0 ZNF16 7564 broad.mit.edu 37 8 146157523 146157523 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:146157523G>A ENST00000276816.4 - 4 836 c.650C>T c.(649-651)aCc>aTc p.T217I ZNF16_ENST00000394909.2_Missense_Mutation_p.T217I NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) TCCTTGGAAGGTTTTCCCACA 0.488000 12 85 0 0 0.00136819 0 0 SI 6476 broad.mit.edu 37 3 164748504 164748504 + Missense_Mutation SNP C C G rs148434280 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:164748504C>G ENST00000264382.3 - 25 2950 c.2888G>C c.(2887-2889)aGa>aCa p.R963T NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 963 Isomaltase.|P-type 2. 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) TATTACCGTTCTCCATACACA 0.299000 HNSCC(35;0.089) 9 33 0 0 0.000442599 0 0 IGHV3-74 28408 broad.mit.edu 37 14 107218772 107218772 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:107218772G>A ENST00000424969.2 - 0 490 TGGTGAATCGGCCCTTCACGG 0.547000 30 132 0 0 0.0024448 0 0 SCTR 6344 broad.mit.edu 37 2 120236455 120236455 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:120236455G>A ENST00000019103.5 - 3 500 c.233C>T c.(232-234)tCt>tTt p.S78F AC013275.2_ENST00000457436.1_RNA|AC013275.2_ENST00000413602.1_RNA NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 78 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) CGGCACAGAAGAGGGCCAGCA 0.607000 7 64 0 0 0.000157383 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 145013 145013 + Missense_Mutation SNP C C G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:145013C>G ENST00000283426.6 + 4 865 c.815C>G c.(814-816)tCc>tGc p.S272C NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 272 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CCTGCCGTCTCCCAGGCCCTC 0.622000 9 39 0 0 0.000673444 0 0 CTNNA2 1496 broad.mit.edu 37 2 80874990 80874990 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:80874990C>T ENST00000466387.1 + 22 3435 c.2711C>T c.(2710-2712)tCc>tTc p.S904F CTNNA2_ENST00000496558.1_Missense_Mutation_p.S904F|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S952F|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S904F|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S583F|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S938F|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S859F P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 952 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GCAATGGATTCCTTCTAGGAC 0.373000 19 48 0 0 0.00074312 0 0 C3AR1 719 broad.mit.edu 37 12 8212126 8212126 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:8212126T>A ENST00000307637.4 - 2 859 c.656A>T c.(655-657)aAt>aTt p.N219I NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 219 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) AGGATGATCATTTGTTTGGAA 0.428000 31 55 0 0 0.00178596 0 0 PIGX 54965 broad.mit.edu 37 3 196449298 196449298 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:196449298C>T ENST00000314118.4 + 3 348 c.66C>T c.(64-66)atC>atT p.I22I PIGX_ENST00000421265.1_Silent_p.I22I|PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000495440.1_3'UTR NM_017861.3 NP_060331.3 Q8TBF5 PIGX_HUMAN phosphatidylinositol glycan anchor biosynthesis, class X 63 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(5)|lung(4)|stomach(1) 11 all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00322) ACCTTTTAATCAAAGTGAAGT 0.373000 28 96 0 0 0.00127121 0 0 RIF1 55183 broad.mit.edu 37 2 152321487 152321487 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:152321487C>T ENST00000243326.4 + 29 5936 c.5453C>T c.(5452-5454)tCa>tTa p.S1818L RIF1_ENST00000430328.2_Missense_Mutation_p.S1818L|RIF1_ENST00000444746.2_Missense_Mutation_p.S1818L|RIF1_ENST00000453091.2_Missense_Mutation_p.S1818L|RIF1_ENST00000428287.2_Missense_Mutation_p.S1818L Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1818 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) GAAACCAAATCAAAAGAAAAC 0.313000 37 89 0 0 0.000953801 0 0 DOCK2 1794 broad.mit.edu 37 5 169127124 169127124 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:169127124C>T ENST00000256935.8 + 13 1319 c.1239C>T c.(1237-1239)ttC>ttT p.F413F NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 413 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) AGCTGGGATTCCCAGAGATCA 0.527000 13 74 0 0 0.000566183 0 0 MARCH11 441061 broad.mit.edu 37 5 16067614 16067614 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:16067614G>A ENST00000332432.8 - 4 1374 c.1175C>T c.(1174-1176)tCg>tTg p.S392L NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 392 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 AACCTCCCCCGAGCTGTTATC 0.463000 27 118 0 0 0.000491102 0 0 DEFA6 1671 broad.mit.edu 37 8 6782415 6782415 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:6782415C>T ENST00000297436.2 - 2 268 c.228G>A c.(226-228)agG>agA p.R76R NM_001926.3 NP_001917.1 Q01524 DEF6_HUMAN defensin, alpha 6, Paneth cell-specific 76 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) AATAACAGGACCTTCTGCAAT 0.473000 20 54 0 0 0.00152264 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179564661 179564661 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:179564661G>A ENST00000393371.2 - 2 525 c.229C>T c.(229-231)Cgg>Tgg p.R77W RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R77W Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 77 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGAGCTCCCGGGGCTCGATG 0.652000 12 38 0 0 0.000422831 0 0 SYNE1 23345 broad.mit.edu 37 6 152737898 152737898 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:152737898C>T ENST00000367255.5 - 41 6275 c.5674G>A c.(5674-5676)Gaa>Aaa p.E1892K SYNE1_ENST00000265368.4_Missense_Mutation_p.E1892K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1899K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1929K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1899K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1892 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) TTGGTTGCTTCCACTGTTTGC 0.498000 HNSCC(10;0.0054) 10 26 0 0 0.00185496 0 0 GPR152 390212 broad.mit.edu 37 11 67219581 67219581 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:67219581G>A ENST00000312457.2 - 1 619 c.615C>T c.(613-615)ttC>ttT p.F205F NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 205 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GCAGCAGGAGGAAAGGCAGGA 0.677000 25 28 0 0 0.00106085 0 0 PDGFRB 5159 broad.mit.edu 37 5 149514563 149514563 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:149514563G>A ENST00000261799.4 - 4 850 c.381C>T c.(379-381)ttC>ttT p.F127F NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 127 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|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 cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CATTAGGGAGGAAGCCCACGG 0.522000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 8 52 0 0 0.000274275 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887590 12887590 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:12887590C>T ENST00000535591.1 - 3 462 c.267G>A c.(265-267)aaG>aaA p.K89K NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 89 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TTTTGTTCCTCTTGGCATTGA 0.483000 82 292 0 0 0.000781405 0 0 FASTKD5 60493 broad.mit.edu 37 20 3128617 3128617 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:3128617T>C ENST00000380266.3 - 2 1421 c.1100A>G c.(1099-1101)cAc>cGc p.H367R UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 367 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 GTGATCCACGTGAGTGAAACG 0.438000 17 83 0 0 0.00152264 0 0 SELM 140606 broad.mit.edu 37 22 31503396 31503396 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:31503396G>A ENST00000402395.1 - 3 513 c.96C>T c.(94-96)aaC>aaT p.N32N RP3-412A9.11_ENST00000400299.2_Silent_p.N32N|RP3-412A9.11_ENST00000465536.1_5'UTR CGCTCAGACGGTTCCAGTCCG 0.706000 6 11 0 0 0.000274275 0 0 DSG1 1828 broad.mit.edu 37 18 28926140 28926140 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:28926140C>T ENST00000257192.4 + 14 2291 c.2079C>T c.(2077-2079)ttC>ttT p.F693F RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Silent_p.F52F NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 693 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) ATATGAATTTCATGGAAAGCT 0.418000 10 24 0 0 0.00185496 0 0 MBL2 4153 broad.mit.edu 37 10 54531277 54531277 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:54531277G>A ENST00000373968.3 - 1 183 c.119C>T c.(118-120)tCt>tTt p.S40F NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 40 Cys-rich. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 GATGCCTGGAGAGCTACAGGC 0.552000 12 33 0 0 0.000219431 0 0 KCNA1 3736 broad.mit.edu 37 12 5021025 5021025 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:5021025G>A ENST00000382545.3 + 2 1588 c.481G>A c.(481-483)Gag>Aag p.E161K KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 161 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGAGTACCCCGAGAGCTCGGG 0.627000 27 60 0 0 0.0024448 0 0 PTCHD1 139411 broad.mit.edu 37 X 23398107 23398107 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:23398107C>T ENST00000379361.4 + 2 1611 c.751C>T c.(751-753)Cct>Tct p.P251S NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 251 P -> L. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CAAAATGTACCCTTACACGTC 0.498000 40 49 0 0 0.00170553 0 0 CD300C 10871 broad.mit.edu 37 17 72540860 72540860 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:72540860G>A ENST00000330793.1 - 2 648 c.288C>T c.(286-288)acC>acT p.T96T NM_006678.3 NP_006669.1 Q08708 CLM6_HUMAN CD300c molecule 96 Ig-like V-type. cellular defense response integral to plasma membrane transmembrane receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1) 21 GATTCTCCAGGGTCACTGTGA 0.547000 31 34 0 0 0.001512 0 0 DAPK2 23604 broad.mit.edu 37 15 64231517 64231517 + Missense_Mutation SNP T T G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:64231517T>G ENST00000261891.3 - 4 502 c.497A>C c.(496-498)cAc>cCc p.H166P DAPK2_ENST00000558069.1_Missense_Mutation_p.H166P|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Missense_Mutation_p.H166P Q9UIK4 DAPK2_HUMAN death-associated protein kinase 2 166 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) CAGCTTGATGTGTGGAATGGG 0.363000 14 85 0 0 0.000566183 0 0 LSG1 55341 broad.mit.edu 37 3 194373548 194373548 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:194373548G>A ENST00000265245.5 - 8 1397 c.1083C>T c.(1081-1083)agC>agT p.S361S NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 361 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) ATACCAGATGGCTAAAATTGT 0.502000 23 126 0 0 0.000375601 0 0 GPD2 2820 broad.mit.edu 37 2 157439382 157439382 + Silent SNP C C T rs144944634 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:157439382C>T ENST00000310454.6 + 17 2508 c.2136C>T c.(2134-2136)ctC>ctT p.L712L GPD2_ENST00000496190.1_3'UTR|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000409125.4_Silent_p.L485L|GPD2_ENST00000438166.2_Silent_p.L712L|GPD2_ENST00000409674.1_Silent_p.L712L NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 712 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 AAGAGAACCTCGACAGAAGAG 0.433000 10 25 0 0 0.000673444 0 0 MYLK2 85366 broad.mit.edu 37 20 30411356 30411356 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:30411356C>T ENST00000375994.2 + 4 1122 c.849C>T c.(847-849)ttC>ttT p.F283F MYLK2_ENST00000375985.4_Silent_p.F283F Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 283 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) GCAGTGAATTCAGTATGAACT 0.612000 OREG0025856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 113 0 0 0.000814825 0 0 NWD1 284434 broad.mit.edu 37 19 16902209 16902209 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:16902209G>A ENST00000524140.2 + 14 3407 c.2989G>A c.(2989-2991)Gga>Aga p.G997R NWD1_ENST00000379808.3_Missense_Mutation_p.G997R|NWD1_ENST00000523826.1_Missense_Mutation_p.G791R|NWD1_ENST00000549814.1_Missense_Mutation_p.G997R|NWD1_ENST00000552788.1_Missense_Mutation_p.G997R|NWD1_ENST00000339803.6_Missense_Mutation_p.G862R NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 997 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 CCATATCCTGGGAGATGCCTC 0.527000 38 107 0 0 0.000509022 0 0 TTN 7273 broad.mit.edu 37 2 179427823 179427823 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179427823G>A ENST00000589042.1 - 326 83260 c.83036C>T c.(83035-83037)gCt>gTt p.A27679V TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A18614V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A25111V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A18806V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A18739V|TTN_ENST00000591111.1_Missense_Mutation_p.A26038V|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26038 Fibronectin type-III 101. 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) TCTGAGATCAGCATCGAGTTC 0.468000 31 120 0 0 0.00209593 0 0 INADL 10207 broad.mit.edu 37 1 62340940 62340940 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:62340940C>T ENST00000371158.2 + 21 2975 c.2861C>T c.(2860-2862)tCc>tTc p.S954F INADL_ENST00000316485.6_Missense_Mutation_p.S954F NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 954 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GTCATGGAGTCCCTACCATCT 0.343000 24 66 0 0 0.000878237 0 0 NUAK1 9891 broad.mit.edu 37 12 106500239 106500239 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:106500239C>T ENST00000261402.2 - 2 1684 c.305G>A c.(304-306)cGa>cAa p.R102Q NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 102 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 CTCAATCTCTCGTCTGATGTG 0.343000 16 20 0 0 0.000308642 0 0 CRB1 23418 broad.mit.edu 37 1 197390134 197390134 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:197390134C>T ENST00000367400.3 + 6 1311 c.1176C>T c.(1174-1176)atC>atT p.I392I CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.I392I|CRB1_ENST00000535699.1_Silent_p.I323I|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.I280I|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Silent_p.I91I NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 392 EGF-like 9. 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 TAACAGGAATCCACTGCGAAG 0.348000 19 70 0 0 0.00152264 0 0 SLC30A4 7782 broad.mit.edu 37 15 45783027 45783027 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:45783027G>A ENST00000261867.4 - 4 905 c.591C>T c.(589-591)ttC>ttT p.F197F RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 197 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) CATATAAGAGGAATCCCATAA 0.353000 21 70 0 0 0.000375601 0 0 PDE11A 50940 broad.mit.edu 37 2 178879164 178879164 + Silent SNP G G A rs144284382 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:178879164G>A ENST00000286063.5 - 2 1253 c.936C>T c.(934-936)atC>atT p.I312I PDE11A_ENST00000358450.4_Silent_p.I62I NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 312 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.I62I(1)|p.I312I(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TTAGCTTGTCGATTTCATCAT 0.393000 Primary Pigmented Nodular Adrenocortical Disease, Familial 11 32 0 0 0.000978159 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509253 110509253 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:110509253G>A ENST00000378402.5 + 64 10537 c.10433G>A c.(10432-10434)gGa>gAa p.G3478E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3478 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) CTTATACAAGGATTTACCATT 0.338000 HNSCC(38;0.096) 17 79 0 0 0.00074312 0 0 C1orf116 79098 broad.mit.edu 37 1 207198353 207198353 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:207198353C>T ENST00000359470.5 - 3 411 c.162G>A c.(160-162)ctG>ctA p.L54L C1orf116_ENST00000461135.2_5'UTR NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 54 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) TGGTCTCCTCCAGGAAGAGCA 0.622000 13 31 0 0 0.000566183 0 0 ROBO1 6091 broad.mit.edu 37 3 78683143 78683143 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:78683143T>C ENST00000436010.2 - 22 4303 c.3306A>G c.(3304-3306)tcA>tcG p.S1102S ROBO1_ENST00000464233.1_Silent_p.S1141S|ROBO1_ENST00000467549.1_Silent_p.S1041S|ROBO1_ENST00000495273.1_Silent_p.S1096S Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1141 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TCTGGTCGTATGATTGGTTGT 0.398000 24 83 0 0 0.00178596 0 0 SLC38A4 55089 broad.mit.edu 37 12 47182344 47182344 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:47182344C>T ENST00000447411.1 - 3 383 c.177G>A c.(175-177)ggG>ggA p.G59G SLC38A4_ENST00000266579.4_Silent_p.G59G NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 59 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) GCTTCTTTTTCCCCAAAAATC 0.393000 15 48 0 0 0.000566183 0 0 OR10G9 219870 broad.mit.edu 37 11 123894524 123894524 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:123894524G>A ENST00000375024.1 + 1 805 c.805G>A c.(805-807)Gga>Aga p.G269R NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 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;0.0399) CGTCGTGGATGGAGTTGTGGC 0.502000 31 70 0 0 0.000692331 0 0 SCUBE3 222663 broad.mit.edu 37 6 35210914 35210914 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:35210914G>A ENST00000274938.7 + 15 1810 c.1810G>A c.(1810-1812)Gat>Aat p.D604N SCUBE3_ENST00000394681.1_Missense_Mutation_p.D620N NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 604 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 GGCAGGCCTTGATTATGAGCT 0.637000 37 45 0 0 0.00195071 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756286 94756286 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:94756286C>T ENST00000554723.1 - 2 1183 c.765G>A c.(763-765)ggG>ggA p.G255G SERPINA10_ENST00000393096.1_Silent_p.G215G|SERPINA10_ENST00000554173.1_Silent_p.G215G|SERPINA10_ENST00000261994.4_Silent_p.G215G Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 215 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.G215G(1) 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) TGGGAATTTTCCCCCGAGTCT 0.388000 10 59 0 0 0.000442599 0 0 TNRC6B 23112 broad.mit.edu 37 22 40717151 40717151 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:40717151C>T ENST00000454349.2 + 22 5243 c.5032C>T c.(5032-5034)Cat>Tat p.H1678Y TNRC6B_ENST00000402203.1_Missense_Mutation_p.H874Y|TNRC6B_ENST00000301923.9_Missense_Mutation_p.H874Y|TNRC6B_ENST00000335727.8_Missense_Mutation_p.H1568Y NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1678 RRM. gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 GCTGACATTCCATCTGAATCT 0.517000 14 43 0 0 0.00185496 0 0 SEMA5A 9037 broad.mit.edu 37 5 9202111 9202111 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:9202111G>A ENST00000382496.5 - 9 1553 c.888C>T c.(886-888)ttC>ttT p.F296F 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 296 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 GCTCAGGCAGGAAGAAAGTAC 0.448000 7 28 0 0 0.00198382 0 0 ADAM7 8756 broad.mit.edu 37 8 24349524 24349524 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:24349524G>A ENST00000175238.6 + 14 1548 c.1465G>A c.(1465-1467)Gga>Aga p.G489R ADAM7_ENST00000380789.1_Missense_Mutation_p.G489R|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G261R|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 489 Cys-rich. 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) CAGGGTCAATGGATTTCCTTG 0.483000 35 70 0 0 0.00195071 0 0 GOLGA5 9950 broad.mit.edu 37 14 93301978 93301978 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:93301978C>T ENST00000163416.2 + 11 2276 c.2020C>T c.(2020-2022)Cgc>Tgc p.R674C GOLGA5_ENST00000355976.2_Missense_Mutation_p.R674C NM_005113.2 NP_005104.2 Q8TBA6 GOGA5_HUMAN golgin A5 674 Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) CGGAAAAGTTCGCAAAGCTGC 0.383000 T RET papillary thyroid 7 25 0 0 0.00198382 0 0 COL6A2 1292 broad.mit.edu 37 21 47549387 47549387 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:47549387C>T ENST00000357838.4 + 28 2821 c.2739C>T c.(2737-2739)acC>acT p.T913T COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000397763.1_Silent_p.T913T|COL6A2_ENST00000310645.5_3'UTR NM_058174.2 NP_478054.2 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 0 Nonhelical region.|VWFA 3. 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) ACCCCGAGACCGCGCTGGCCC 0.682000 5 35 0 0 0.00116845 0 0 ALPK3 57538 broad.mit.edu 37 15 85406076 85406076 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:85406076C>T ENST00000258888.5 + 10 5113 c.4946C>T c.(4945-4947)tCc>tTc p.S1649F NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1649 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) ATCAAGGTGTCCAGCCTGCTT 0.572000 12 55 0 0 0.00136819 0 0 ACSL5 51703 broad.mit.edu 37 10 114158669 114158669 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:114158669G>A ENST00000393081.1 + 3 474 c.167G>A c.(166-168)cGg>cAg p.R56Q ACSL5_ENST00000356116.1_Missense_Mutation_p.R112Q|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354655.4_Missense_Mutation_p.R56Q|ACSL5_ENST00000433418.1_Missense_Mutation_p.R56Q|ACSL5_ENST00000354273.4_Missense_Mutation_p.R56Q NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 56 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GGAGGAGCACGGAAGGGGGTT 0.443000 8 70 0 0 0.000442599 0 0 DSCAM 1826 broad.mit.edu 37 21 41725476 41725476 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:41725476G>A ENST00000400454.1 - 5 1327 c.850C>T c.(850-852)Cgc>Tgc p.R284C NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 284 Ig-like C2-type 3. 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) TCCGAGGGGCGAATGTTCTCA 0.542000 13 59 0 0 0.00185496 0 0 TRHDE 29953 broad.mit.edu 37 12 72969126 72969126 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:72969126G>A ENST00000261180.4 + 11 2184 c.2088G>A c.(2086-2088)agG>agA p.R696R TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 696 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 ATGACCTAAGGAACTGGAGAT 0.363000 12 28 0 0 0.00185496 0 0 COL5A2 1290 broad.mit.edu 37 2 189943285 189943285 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:189943285C>T ENST00000374866.3 - 16 1290 c.1016G>A c.(1015-1017)gGa>gAa p.G339E NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 339 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCTGGCATTCCCCTCGGACC 0.428000 49 148 0 0 0.000781405 0 0 CRHBP 1393 broad.mit.edu 37 5 76251529 76251529 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:76251529C>T ENST00000274368.4 + 4 807 c.385C>T c.(385-387)Cat>Tat p.H129Y CRHBP_ENST00000506501.1_Missense_Mutation_p.H129Y NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 129 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) TTCCCAGGATCATCCTCTCCC 0.463000 70 345 0 0 0.000781405 0 0 SPRY4 81848 broad.mit.edu 37 5 141694238 141694238 + Missense_Mutation SNP G G A rs138416722 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:141694238G>A ENST00000344120.4 - 3 691 c.505C>T c.(505-507)Ccg>Tcg p.P169S SPRY4_ENST00000434127.2_Missense_Mutation_p.P146S NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 146 Cys-rich.|SPR. multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGACCGCCGGGCCCTTGAGG 0.647000 Testicular Cancer, Familial Clustering of 21 83 0 0 0.00229938 0 0 LAMA3 3909 broad.mit.edu 37 18 21355756 21355756 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:21355756C>T ENST00000313654.9 + 10 1515 c.1273_splice c.e10-1 p.P425_splice LAMA3_ENST00000399516.3_Splice_Site_p.P425_splice NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 425 Domain V.|Laminin EGF-like 2. 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) TTTCTCTTAGCCTGCAGCTGT 0.493000 10 22 0 0 0.00185496 0 0 AKR1E2 83592 broad.mit.edu 37 10 4877986 4877986 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:4877986C>T ENST00000298375.7 + 4 515 c.444C>T c.(442-444)ttC>ttT p.F148F AKR1E2_ENST00000532248.1_Silent_p.F148F|AKR1E2_ENST00000334019.4_Silent_p.F148F|AKR1E2_ENST00000345253.5_Silent_p.F148F|AKR1E2_ENST00000525281.1_3'UTR NM_001040177.1 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 148 cytoplasm 1,5-anhydro-D-fructose reductase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 ACACGGACTTCCTGGACACGT 0.567000 24 47 0 0 0.00127121 0 0 GPR98 84059 broad.mit.edu 37 5 90020657 90020657 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:90020657G>A ENST00000405460.2 + 46 9853 c.9757G>A c.(9757-9759)Gat>Aat p.D3253N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3253 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) AGGGGGAATGGATGTTGTGTT 0.294000 39 187 0 0 0.000781405 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243437849 243437849 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:243437849C>T ENST00000366541.3 + 4 429 c.311C>T c.(310-312)tCa>tTa p.S104L SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.S104L|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.S104L NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 104 establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TCATAGAGGTCATTAGAACAT 0.294000 13 108 0 0 0.00136819 0 0 TTN 7273 broad.mit.edu 37 2 179546108 179546108 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179546108G>A ENST00000589042.1 - 137 33466 c.33242C>T c.(33241-33243)cCc>cTc p.P11081L TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9837L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10764L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10764 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) TGTACCTTTGGGTGGTGGAGG 0.368000 8 36 0 0 0.000274275 0 0 NCLN 56926 broad.mit.edu 37 19 3192620 3192620 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:3192620C>T ENST00000246117.4 + 2 768 c.337C>T c.(337-339)Ccc>Tcc p.P113S NCLN_ENST00000590671.1_Missense_Mutation_p.P39S NM_020170.3 NP_064555.2 Q969V3 NCLN_HUMAN nicalin 113 proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding kidney(1)|lung(3)|skin(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) CATCATCCTGCCCAGGGCCAT 0.711000 14 41 0 0 0.000422831 0 0 CCR3 1232 broad.mit.edu 37 3 46306740 46306740 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:46306740G>A ENST00000357422.2 + 4 634 c.91G>A c.(91-93)Gca>Aca p.A31T CCR3_ENST00000395940.2_Missense_Mutation_p.A31T|CCR3_ENST00000395942.2_Missense_Mutation_p.A31T|CCR3_ENST00000541018.1_Missense_Mutation_p.A31T|CCR3_ENST00000545097.1_Missense_Mutation_p.A52T P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 31 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) TGATACCAGAGCACTGATGGC 0.502000 9 20 0 0 0.000274275 0 0 PXDNL 137902 broad.mit.edu 37 8 52321427 52321427 + Silent SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:52321427G>C ENST00000356297.4 - 17 2857 c.2757C>G c.(2755-2757)ctC>ctG p.L919L PXDNL_ENST00000543296.1_Silent_p.L919L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 919 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.L919L(1)|p.L118L(1) 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) CTGTCTTCAGGAGACCCCGAG 0.607000 4 22 0 0 0.00024832 0 0 CACNA1E 777 broad.mit.edu 37 1 181754860 181754860 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:181754860C>T ENST00000526775.1 + 42 5799 c.5634C>T c.(5632-5634)ccC>ccT p.P1878P CACNA1E_ENST00000360108.3_Silent_p.P1878P|CACNA1E_ENST00000367567.4_Silent_p.P1504P|CACNA1E_ENST00000357570.5_Silent_p.P1848P|CACNA1E_ENST00000367573.2_Silent_p.P1897P|CACNA1E_ENST00000367570.1_Silent_p.P1897P|CACNA1E_ENST00000358338.5_Silent_p.P1829P NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1897 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 AAAATGCCCCCATGTTCCAGC 0.478000 58 137 0 0 0.000781405 0 0 FRS3 10817 broad.mit.edu 37 6 41739062 41739062 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:41739062G>A ENST00000373018.3 - 7 1025 c.774C>T c.(772-774)ggC>ggT p.G258G FRS3_ENST00000259748.2_Silent_p.G258G NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 258 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGGGACAGAGGCCCTGGCACT 0.612000 12 30 0 0 0.000978159 0 0 ANPEP 290 broad.mit.edu 37 15 90336292 90336292 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:90336292C>T ENST00000300060.6 - 16 2536 c.2223G>A c.(2221-2223)agG>agA p.R741R NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 741 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CTGGGATCTCCCTCCAGTTGT 0.488000 19 164 0 0 0.00047179 0 0 ZFR2 23217 broad.mit.edu 37 19 3831710 3831710 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:3831710G>A ENST00000262961.4 - 4 556 c.546C>T c.(544-546)atC>atT p.I182I ZFR2_ENST00000591965.1_5'UTR NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 182 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) AGGAGGTCACGATGGAAGCTG 0.662000 11 23 0 0 0.00185496 0 0 LGR5 8549 broad.mit.edu 37 12 71960479 71960479 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:71960479C>T ENST00000266674.5 + 10 1308 c.998_splice c.e10+1 p.L333_splice LGR5_ENST00000536515.1_Splice_Site_p.L261_splice|LGR5_ENST00000540815.2_Splice_Site_p.L309_splice O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 333 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 CCTGGAGAGTCTGTAAGTACT 0.398000 108 191 0 0 0.000781405 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27539493 27539493 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:27539493G>A ENST00000574842.1 + 0 762 CTCACTAATGGAAAGTTCACG 0.567000 5 40 0 0 0.000602214 0 0 NPC1L1 29881 broad.mit.edu 37 7 44571777 44571777 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:44571777C>T ENST00000289547.4 - 9 2504 c.2449G>A c.(2449-2451)Gag>Aag p.E817K NPC1L1_ENST00000546276.1_Missense_Mutation_p.E817K|NPC1L1_ENST00000381160.3_Missense_Mutation_p.E817K NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 817 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) GGGGGCAGCTCCTGGGGCTTG 0.642000 20 98 0 0 0.00229938 0 0 CFHR5 81494 broad.mit.edu 37 1 196977645 196977645 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:196977645G>A ENST00000367414.5 + 10 1670 c.1614G>A c.(1612-1614)atG>atA p.M538I CFHR5_ENST00000256785.4_Missense_Mutation_p.M514I NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 514 Sushi 9. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 AAGAAAACATGAACAAAAATA 0.299000 15 23 0 0 0.000422831 0 0 GLIS3 169792 broad.mit.edu 37 9 3856122 3856122 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:3856122G>A ENST00000324333.10 - 8 2088 c.1895C>T c.(1894-1896)tCa>tTa p.S632L GLIS3_ENST00000381971.3_Missense_Mutation_p.S787L|GLIS3_ENST00000461870.1_5'UTR NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 632 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TTGCAGTATTGAAGAAGGAGC 0.463000 22 50 0 0 0.00188189 0 0 STAG3 10734 broad.mit.edu 37 7 99800133 99800133 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:99800133C>T ENST00000426455.1 + 25 3027 c.2620C>T c.(2620-2622)Cta>Tta p.L874L STAG3_ENST00000394018.2_Silent_p.L816L|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.L874L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR Q9UJ98 STAG3_HUMAN stromal antigen 3 874 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCGCCGCCTCCTAGCCGGGTT 0.522000 66 140 0 0 0.000781405 0 0 CXXC5 51523 broad.mit.edu 37 5 139060648 139060648 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:139060648C>T ENST00000302517.3 + 2 1254 c.540C>T c.(538-540)ctC>ctT p.L180L CXXC5_ENST00000511048.1_Silent_p.L180L|CXXC5_ENST00000515038.1_3'UTR NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 180 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAGCATCTCCCGCTGATGA 0.662000 14 35 0 0 0.000422831 0 0 GAS2L1 10634 broad.mit.edu 37 22 29708407 29708407 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:29708407C>T ENST00000406549.3 + 6 1436 c.1286C>T c.(1285-1287)cCc>cTc p.P429L GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 656 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 CCCCGCCGCCCCTCCGGACCC 0.672000 16 26 0 0 0.000308642 0 0 NCEH1 57552 broad.mit.edu 37 3 172365750 172365750 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:172365750G>A ENST00000475381.1 - 2 526 c.293C>T c.(292-294)cCt>cTt p.P98L NCEH1_ENST00000273512.3_Missense_Mutation_p.P130L|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.P130L Q6PIU2 NCEH1_HUMAN neutral cholesterol ester hydrolase 1 98 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 GGGCTTCGGAGGGCCTTCAAA 0.527000 7 54 0 0 0.00198382 0 0 CCDC89 220388 broad.mit.edu 37 11 85397055 85397055 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:85397055T>A ENST00000316398.3 - 1 265 c.119A>T c.(118-120)aAg>aTg p.K40M NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 40 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) GTCCAGTTCCTTAAACTCCGT 0.552000 22 31 0 0 0.000586117 0 0 POFUT1 23509 broad.mit.edu 37 20 30816069 30816069 + Missense_Mutation SNP T T G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:30816069T>G ENST00000375749.3 + 5 608 c.546T>G c.(544-546)ttT>ttG p.F182L POFUT1_ENST00000539210.1_5'UTR|POFUT1_ENST00000486717.1_3'UTR NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 182 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) TGTCTAGATTTTCTCCAAAGG 0.572000 11 32 0 0 0.000673444 0 0 MMP27 64066 broad.mit.edu 37 11 102575382 102575382 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:102575382C>T ENST00000260229.4 - 2 318 c.227G>A c.(226-228)gGa>gAa p.G76E NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 76 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) GTCCAGTTTTCCAGTCACTGT 0.453000 8 22 0 0 0.000157383 0 0 ELAVL2 1993 broad.mit.edu 37 9 23704966 23704966 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:23704966G>A ENST00000397312.2 - 4 711 c.437C>T c.(436-438)tCa>tTa p.S146L ELAVL2_ENST00000223951.6_Missense_Mutation_p.S146L|ELAVL2_ENST00000380117.1_Missense_Mutation_p.S146L|ELAVL2_ENST00000380110.4_Missense_Mutation_p.S175L|ELAVL2_ENST00000544538.1_Missense_Mutation_p.S146L NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 146 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TCCATATTGTGAAAAAAGCTG 0.448000 13 74 0 0 0.000422831 0 0 SNTG2 54221 broad.mit.edu 37 2 1093908 1093908 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:1093908G>A ENST00000308624.5 + 3 366 c.237G>A c.(235-237)caG>caA p.Q79Q SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 79 PDZ. 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) TCCGCAGACAGCCAGTTGGCG 0.368000 54 355 0 0 0.000781405 0 0 ZNF831 128611 broad.mit.edu 37 20 57769282 57769282 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:57769282G>A ENST00000371030.2 + 1 3208 c.3208G>A c.(3208-3210)Ggt>Agt p.G1070S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1070 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGACATGGAGGGTGACAGCCA 0.622000 12 18 0 0 0.00185496 0 0 ELOVL4 6785 broad.mit.edu 37 6 80626583 80626583 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:80626583G>A ENST00000369816.4 - 6 987 c.687C>T c.(685-687)acC>acT p.T229T NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 229 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) TGTGCCCAATGGTCACATGGA 0.403000 17 25 0 0 0.00074312 0 0 PRKG2 5593 broad.mit.edu 37 4 82125861 82125861 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:82125861G>A ENST00000395578.1 - 2 457 c.341C>T c.(340-342)tCt>tTt p.S114F PRKG2_ENST00000418486.2_Missense_Mutation_p.S114F|PRKG2_ENST00000264399.1_Missense_Mutation_p.S114F Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 114 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 GCTATGGAGAGAGACCAATCC 0.547000 18 102 0 0 0.000566183 0 0 TENM4 26011 broad.mit.edu 37 11 78381204 78381204 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:78381204G>A ENST00000278550.7 - 32 6648 c.6186C>T c.(6184-6186)ccC>ccT p.P2062P NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GGTCAATCAGGGGCCCAATCT 0.542000 6 21 0 0 0.000274275 0 0 OR5K2 402135 broad.mit.edu 37 3 98217179 98217179 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:98217179C>T ENST00000427338.1 + 1 732 c.655C>T c.(655-657)Ctc>Ttc p.L219F CLDND1_ENST00000502288.1_Intron NM_001004737.1 NP_001004737.1 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, member 2 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 AATATCTTATCTCTATATTCT 0.368000 23 30 0 0 0.00047179 0 0 PIK3CA 5290 broad.mit.edu 37 3 178937063 178937063 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:178937063C>T ENST00000263967.3 + 11 1901 c.1744C>T c.(1744-1746)Cag>Tag p.Q582* NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 582 PI3K helical. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAGTAGCCCAGGTAAATGT 0.333000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 8 23 0 0 0.000157383 0 0 DCC 1630 broad.mit.edu 37 18 50918165 50918165 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:50918165G>A ENST00000442544.2 + 17 3212 c.2596G>A c.(2596-2598)Gac>Aac p.D866N DCC_ENST00000581580.1_Missense_Mutation_p.D501N|DCC_ENST00000412726.1_Missense_Mutation_p.D694N NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 866 Fibronectin type-III 5. 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) CAGCTGGGCAGACAACTCTGT 0.537000 7 76 0 0 0.000157383 0 0 FAM118A 55007 broad.mit.edu 37 22 45728384 45728384 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:45728384C>T ENST00000216214.3 + 7 1564 c.730C>T c.(730-732)Cag>Tag p.Q244* FAM118A_ENST00000441876.2_Nonsense_Mutation_p.Q244*|FAM118A_ENST00000405548.3_Nonsense_Mutation_p.Q62* NM_001104595.1 NP_001098065.1 Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A 244 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TCAGATATTCCAGGCCCTCTT 0.468000 59 160 0 0 0.000781405 0 0 ZNF106 64397 broad.mit.edu 37 15 42740573 42740573 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:42740573G>A ENST00000263805.4 - 3 3089 c.2763C>T c.(2761-2763)ctC>ctT p.L921L ZNF106_ENST00000565380.1_Silent_p.L149L|ZNF106_ENST00000565611.1_Silent_p.L106L NM_022473.1 NP_071918.1 zinc finger protein 106 CACCTGTTCGGAGGGAGGCAG 0.483000 16 94 0 0 0.000958276 0 0 WNK4 65266 broad.mit.edu 37 17 40939873 40939873 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:40939873G>A ENST00000246914.5 + 8 1840 c.1819G>A c.(1819-1821)Ggg>Agg p.G607R WNK4_ENST00000587705.1_Intron NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 607 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) GCCCCCTGGGGGGGTGCCATC 0.647000 20 24 0 0 0.00188189 0 0 SLC39A12 221074 broad.mit.edu 37 10 18250624 18250624 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:18250624G>A ENST00000377369.2 + 3 649 c.376G>A c.(376-378)Gaa>Aaa p.E126K SLC39A12_ENST00000377374.4_Missense_Mutation_p.E126K|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.E126K NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 126 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TATTCATCAGGAAGAGATCTG 0.383000 15 68 0 0 0.00074312 0 0 SLIT3 6586 broad.mit.edu 37 5 168098445 168098445 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:168098445C>T ENST00000519560.1 - 34 4304 c.3885G>A c.(3883-3885)acG>acA p.T1295T SLIT3_ENST00000332966.8_Silent_p.T1302T|SLIT3_ENST00000404867.3_Silent_p.T1295T NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1295 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGGCCGGTCCGTGCCCTGGC 0.667000 4 18 0 0 0.000602214 0 0 PANK1 53354 broad.mit.edu 37 10 91371750 91371750 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:91371750G>A ENST00000307534.4 - 2 914 c.759C>T c.(757-759)ttC>ttT p.F253F PANK1_ENST00000322191.6_Silent_p.F28F|PANK1_ENST00000371774.2_Silent_p.F55F|PANK1_ENST00000342512.3_Silent_p.F28F NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 253 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) CCTTCGGCTCGAAATACACCA 0.458000 19 77 0 0 0.00188189 0 0 HECW2 57520 broad.mit.edu 37 2 197085603 197085603 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:197085603C>T ENST00000260983.2 - 25 4391 c.4209G>A c.(4207-4209)aaG>aaA p.K1403K HECW2_ENST00000409111.1_Silent_p.K1047K NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 1403 HECT. 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 CGATGTACTCCTTCTTGTTCT 0.423000 34 92 0 0 0.000814825 0 0 CCDC141 285025 broad.mit.edu 37 2 179718304 179718304 + Silent SNP T T C rs76657151 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179718304T>C ENST00000420890.2 - 20 3225 c.3108A>G c.(3106-3108)ggA>ggG p.G1036G CCDC141_ENST00000295723.5_Silent_p.G461G NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 461 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) TGGAATATTTTCCAACTCTTA 0.388000 25 81 0 0 0.00178596 0 0 PDE7A 5150 broad.mit.edu 37 8 66636582 66636582 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:66636582G>A ENST00000401827.3 - 11 1513 c.1070C>T c.(1069-1071)gCt>gTt p.A357V PDE7A_ENST00000379419.4_Missense_Mutation_p.A331V|PDE7A_ENST00000396642.3_Missense_Mutation_p.A357V NM_001242318.2 NP_001229247.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A 357 Catalytic (By similarity). cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) ACATTTCAAAGCCATCTAGCA 0.353000 10 27 0 0 0.00136819 0 0 ACSL6 23305 broad.mit.edu 37 5 131303701 131303701 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:131303701G>A ENST00000379264.2 - 16 1636 c.1528C>T c.(1528-1530)Ccc>Tcc p.P510S ACSL6_ENST00000379255.1_Missense_Mutation_p.P410S|ACSL6_ENST00000379240.1_Missense_Mutation_p.P485S|ACSL6_ENST00000296869.4_Missense_Mutation_p.P510S|ACSL6_ENST00000357096.1_Missense_Mutation_p.P410S|ACSL6_ENST00000379244.1_Missense_Mutation_p.P485S|ACSL6_ENST00000431707.1_Missense_Mutation_p.P465S|ACSL6_ENST00000543479.1_Missense_Mutation_p.P485S|ACSL6_ENST00000379272.2_Missense_Mutation_p.P500S|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379249.3_Missense_Mutation_p.P485S|ACSL6_ENST00000544770.1_Missense_Mutation_p.P394S|ACSL6_ENST00000379246.1_Missense_Mutation_p.P496S NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 485 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGATTGCAGGGAAGTGGCGCC 0.488000 13 59 0 0 0.00136819 0 0 MKKS 8195 broad.mit.edu 37 20 10393417 10393417 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:10393417G>A ENST00000347364.2 - 3 1508 c.746C>T c.(745-747)tCc>tTc p.S249F NM_170784.2 NP_740754.1 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome 249 Substrate-binding apical domain. brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2) 16 AGTGTCTCCGGATAAAGTTGT 0.438000 18 61 0 0 0.00121646 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266132 3266132 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:3266132C>T ENST00000576468.1 + 0 418 ACACCATCCCCCACATCTTCT 0.537000 8 17 0 0 0.000442599 0 0 PSD2 84249 broad.mit.edu 37 5 139216584 139216584 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:139216584G>A ENST00000274710.3 + 10 1797 c.1592G>A c.(1591-1593)aGg>aAg p.R531K NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 531 PH. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATGGCAAGAGGAGTGGGTGT 0.642000 21 47 0 0 0.00229938 0 0 RIC3 79608 broad.mit.edu 37 11 8132361 8132361 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:8132361C>T ENST00000396677.2 - 3 507 c.508G>A c.(508-510)Gaa>Aaa p.E170K RIC3_ENST00000335425.7_Missense_Mutation_p.E150K|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000309737.6_Missense_Mutation_p.E332K|RIC3_ENST00000539720.1_Missense_Mutation_p.E283K|RIC3_ENST00000343202.4_Missense_Mutation_p.E331K|RIC3_ENST00000425599.2_Missense_Mutation_p.E251K Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 332 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) TTGGTGGTTTCCTCTTGCTCA 0.483000 31 82 0 0 0.000491102 0 0 SI 6476 broad.mit.edu 37 3 164724631 164724631 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:164724631C>T ENST00000264382.3 - 37 4441 c.4379G>A c.(4378-4380)gGa>gAa p.G1460E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1460 Sucrase. 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) CTGTGACCATCCATAGAGATT 0.343000 HNSCC(35;0.089) 12 54 0 0 0.00136819 0 0 GPR135 64582 broad.mit.edu 37 14 59930726 59930726 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:59930726G>A ENST00000395116.1 - 1 1334 c.1219C>T c.(1219-1221)Cgg>Tgg p.R407W NM_022571.5 NP_072093.2 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 407 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.134) TTCCTAGTCCGGTAGCCCTCC 0.637000 10 34 0 0 0.000673444 0 0 EPHA6 285220 broad.mit.edu 37 3 97356793 97356793 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:97356793C>T ENST00000389672.5 + 14 2689 c.2651C>T c.(2650-2652)tCt>tTt p.S884F EPHA6_ENST00000502694.1_Missense_Mutation_p.S276F|EPHA6_ENST00000514100.1_Missense_Mutation_p.S276F|EPHA6_ENST00000442602.2_3'UTR NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 789 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 AAGTATCTTTCTGATATGGGT 0.448000 32 136 0 0 0.0024448 0 0 MAK 4117 broad.mit.edu 37 6 10775656 10775656 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:10775656C>T ENST00000313243.2 - 12 1884 c.1502G>A c.(1501-1503)gGa>gAa p.G501E MAK_ENST00000354489.2_Missense_Mutation_p.G501E|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.G501E|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000538030.1_3'UTR P20794 MAK_HUMAN male germ cell-associated kinase 501 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) TATTTCCTTTCCACTGGCTAT 0.448000 38 87 0 0 0.00170553 0 0 HCN4 10021 broad.mit.edu 37 15 73615572 73615572 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:73615572G>A ENST00000261917.3 - 8 3855 c.2862C>T c.(2860-2862)ctC>ctT p.L954L NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 954 Pro-rich. 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) AGTGCTCCGGGAGTCCCAGGC 0.741000 5 20 0 0 0.000602214 0 0 PTPRK 5796 broad.mit.edu 37 6 128643321 128643321 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:128643321G>A ENST00000368227.3 - 3 724 c.358C>T c.(358-360)Cct>Tct p.P120S PTPRK_ENST00000368215.3_Missense_Mutation_p.P120S|PTPRK_ENST00000368226.4_Missense_Mutation_p.P120S|PTPRK_ENST00000368213.5_Missense_Mutation_p.P120S|PTPRK_ENST00000532331.1_Missense_Mutation_p.P120S|PTPRK_ENST00000525459.1_Missense_Mutation_p.P120S|PTPRK_ENST00000368210.3_Missense_Mutation_p.P120S|PTPRK_ENST00000368207.3_Missense_Mutation_p.P120S|PTPRK_ENST00000524481.1_5'UTR Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 120 MAM. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AAAGTGCCAGGATTCAGTCCT 0.443000 28 46 0 0 0.001512 0 0 KIF26A 26153 broad.mit.edu 37 14 104641894 104641894 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:104641894G>A ENST00000315264.7 + 11 2730 c.2352G>A c.(2350-2352)caG>caA p.Q784Q KIF26A_ENST00000423312.2_Silent_p.Q923Q Q9ULI4 KI26A_HUMAN kinesin family member 26A 923 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GGGGTGACCAGAGAGAGGACA 0.672000 4 25 0 0 0.00116845 0 0 CAPN5 726 broad.mit.edu 37 11 76825396 76825396 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:76825396C>T ENST00000278559.3 + 5 804 c.615C>T c.(613-615)gcC>gcT p.A205A CAPN5_ENST00000456580.2_Silent_p.A245A|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.A205A NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 205 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 GTGACTTTGCCAACGATGAGA 0.577000 OREG0021255 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 95 186 0 0 0.000781405 0 0 DOCK2 1794 broad.mit.edu 37 5 169122834 169122834 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:169122834G>A ENST00000256935.8 + 10 951 c.871G>A c.(871-873)Gat>Aat p.D291N NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 291 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) CCTCAACAGGGATAAAATTTA 0.448000 9 53 0 0 0.000673444 0 0 POTEA 340441 broad.mit.edu 37 8 43211928 43211928 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:43211928G>A ENST00000522175.2 + 0 1251 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AAAAATCCAGGATGCAGTTAT 0.358000 8 42 0 0 0.00136819 0 0 PCLO 27445 broad.mit.edu 37 7 82784618 82784618 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:82784618C>T ENST00000423517.2 - 2 1676 c.1339G>A c.(1339-1341)Gga>Aga p.G447R PCLO_ENST00000333891.8_Missense_Mutation_p.G447R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 398 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. S -> P (in Ref. 3; AAI22566). 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 GGAATCTTTCCTGGCCCAGGC 0.592000 18 57 0 0 0.00074312 0 0 INPP5D 3635 broad.mit.edu 37 2 234106805 234106805 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:234106805C>T ENST00000359570.5 + 27 2722 c.2722C>T c.(2722-2724)Ccc>Tcc p.P908S INPP5D_ENST00000450745.1_Missense_Mutation_p.P672S|INPP5D_ENST00000455936.2_Missense_Mutation_p.P672S Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 920 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GGGAGTGGGGCCCTTTGGGCC 0.632000 6 28 0 0 0.00198382 0 0 IGSF3 3321 broad.mit.edu 37 1 117122404 117122404 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:117122404G>T ENST00000369486.3 - 10 3709 c.2944C>A c.(2944-2946)Cag>Aag p.Q982K IGSF3_ENST00000369483.1_Missense_Mutation_p.Q1002K|IGSF3_ENST00000318837.6_Missense_Mutation_p.Q1002K NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 982 Ig-like C2-type 8. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CGGGAGTCCTGGCTGGAGCGG 0.602000 9 36 5.16669e-11 2.31498e-10 0.000978159 1 0 DDHD1 80821 broad.mit.edu 37 14 53570438 53570438 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:53570438G>A ENST00000357758.3 - 2 1158 c.975C>T c.(973-975)ttC>ttT p.F325F DDHD1_ENST00000323669.5_Silent_p.F325F|DDHD1_ENST00000395606.1_Silent_p.F325F NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 325 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) CTTCAATATCGAAATTTTCCT 0.338000 5 44 0 0 0.00116845 0 0 BUB1 699 broad.mit.edu 37 2 111399377 111399377 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:111399377G>A ENST00000535254.1 - 20 2474 c.2407C>T c.(2407-2409)Caa>Taa p.Q803* BUB1_ENST00000409311.1_Nonsense_Mutation_p.Q823*|BUB1_ENST00000302759.6_Nonsense_Mutation_p.Q823*|BUB1_ENST00000478175.1_5'UTR NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 823 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GCAGGCTTTTGGACCTGCAAA 0.403000 50 145 0 0 0.000781405 0 0 EDARADD 128178 broad.mit.edu 37 1 236645877 236645877 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:236645877G>A ENST00000359362.5 + 6 760 c.546G>A c.(544-546)gaG>gaA p.E182E EDARADD_ENST00000334232.4_Silent_p.E192E NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 192 Death. cell differentiation|signal transduction cytoplasm endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CCGACGTGGAGAAGGTTCTGC 0.622000 31 77 0 0 0.000814825 0 0 HCFC1 3054 broad.mit.edu 37 X 153222148 153222148 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:153222148G>A ENST00000310441.7 - 15 3529 c.2563C>T c.(2563-2565)Cgc>Tgc p.R855C HCFC1_ENST00000369984.4_Missense_Mutation_p.R855C|HCFC1_ENST00000354233.3_Missense_Mutation_p.R786C NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 855 Interaction with GABP2.|Interaction with ZBTB17. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTGACCAGGCGAACACCCCCC 0.642000 19 26 0 0 0.000375601 0 0 WT1-AS 51352 broad.mit.edu 37 11 32460585 32460585 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:32460585C>T ENST00000395900.1 + 0 1463 WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000525436.1_RNA NR_023920.1 endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 TTACTTTCACCCCGGCGCTGT 0.607000 8 63 0 0 0.000978159 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159820157 159820157 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:159820157C>T ENST00000497452.1 - 0 517 CGTTTGGAGTCCAATACTCAA 0.423000 84 158 0 0 0.000781405 0 0 SDHC 6391 broad.mit.edu 37 1 161298251 161298251 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:161298251C>T ENST00000367975.2 + 3 292 c.143C>T c.(142-144)tCa>tTa p.S48L SDHC_ENST00000392169.2_Intron|SDHC_ENST00000470743.2_3'UTR|SDHC_ENST00000342751.4_Missense_Mutation_p.S48L|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Intron NM_003001.3 NP_002992.1 Q99643 C560_HUMAN succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 48 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity urinary_tract(1) 1 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) AATATAGGTTCAAACCGTCCT 0.428000 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Carney-Stratakis syndrome 14 102 0 0 0.000422831 0 0 FAM83C 128876 broad.mit.edu 37 20 33880001 33880001 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:33880001G>A ENST00000374408.3 - 1 203 c.107C>T c.(106-108)cCg>cTg p.P36L NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 36 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) CAGCACCAGCGGTGAGCTCTC 0.756000 9 30 0 0 0.00185496 0 0 SLC40A1 30061 broad.mit.edu 37 2 190439994 190439994 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:190439994C>T ENST00000261024.2 - 3 590 c.164G>A c.(163-165)gGa>gAa p.G55E SLC40A1_ENST00000418714.1_5'UTR NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 55 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) GAGGCTGTTTCCATAGAGCTC 0.478000 20 55 0 0 0.00188189 0 0 PSD 5662 broad.mit.edu 37 10 104175873 104175873 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:104175873C>T ENST00000020673.5 - 3 1184 c.658G>A c.(658-660)Gat>Aat p.D220N PSD_ENST00000406432.1_Missense_Mutation_p.D220N NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 220 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) GACCAGGTATCCCCCTGAGCC 0.527000 4 16 0 0 0.000602214 0 0 CHRM1 1128 broad.mit.edu 37 11 62678033 62678033 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:62678033G>A ENST00000306960.3 - 2 1081 c.540C>T c.(538-540)atC>atT p.I180I AP000438.2_ENST00000543624.1_RNA NM_000738.2 NP_000729.2 P11229 ACM1_HUMAN cholinergic receptor, muscarinic 1 180 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) AGAGGAACTGGATGTAGCACT 0.607000 7 18 0 0 0.00198382 0 0 GTSF1L 149699 broad.mit.edu 37 20 42355301 42355301 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:42355301C>T ENST00000373003.1 - 1 337 c.34G>A c.(34-36)Gat>Aat p.D12N GTSF1L_ENST00000373005.2_Missense_Mutation_p.D12N NM_001008901.1|NM_176791.3 NP_001008901.1|NP_789761.1 Q9H1H1 GTSFL_HUMAN gametocyte specific factor 1-like 12 metal ion binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TGGTGAGGATCATAAGGGCAA 0.483000 47 158 0 0 0.000781405 0 0 GRAP2 9402 broad.mit.edu 37 22 40351845 40351845 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:40351845G>A ENST00000344138.4 + 3 364 c.101G>A c.(100-102)tGg>tAg p.W34* GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000544756.1_Intron|GRAP2_ENST00000407075.3_Nonsense_Mutation_p.W34*|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000543252.1_Nonsense_Mutation_p.W34*|GRAP2_ENST00000540310.1_Intron NM_004810.2 NP_004801.1 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 34 SH3 1. cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CAAGAGGAGTGGTTTAAGGCG 0.463000 9 35 0 0 0.00185496 0 0 COQ3 51805 broad.mit.edu 37 6 99828095 99828095 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:99828095G>A ENST00000254759.3 - 3 380 c.356C>T c.(355-357)tCc>tTc p.S119F COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_5'UTR NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 119 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) GTCATTCATGGAATGAAGAGG 0.398000 16 31 0 0 0.000566183 0 0 FAM13C 220965 broad.mit.edu 37 10 61112191 61112191 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:61112191C>T ENST00000277705.6 - 3 264 c.163G>A c.(163-165)Gta>Ata p.V55I FAM13C_ENST00000435852.2_Missense_Mutation_p.V55I|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000442566.3_Missense_Mutation_p.V55I|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000422313.2_Missense_Mutation_p.V55I|FAM13C_ENST00000419214.2_Missense_Mutation_p.V55I|FAM13C_ENST00000373868.2_Missense_Mutation_p.V55I Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 55 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 TGCTCTTCTACCAGAGCCCCT 0.498000 4 16 0 0 0.000602214 0 0 NTN5 126147 broad.mit.edu 37 19 49173966 49173966 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:49173966G>A ENST00000270235.4 - 2 373 c.278C>T c.(277-279)tCt>tTt p.S93F SEC1P_ENST00000430145.2_RNA NM_145807.1 NP_665806.1 Q8WTR8 NET5_HUMAN netrin 5 93 extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 10 CCAGGCAGCAGACAGGATGAG 0.662000 4 16 0 0 0.00024832 0 0 CA7 766 broad.mit.edu 37 16 66886680 66886680 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:66886680G>A ENST00000394069.3 + 6 845 c.414G>A c.(412-414)tgG>tgA p.W138* RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000338437.2_Nonsense_Mutation_p.W194* NM_001014435.1 NP_001014435.1 P43166 CAH7_HUMAN carbonic anhydrase VII 194 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) GGCACTACTGGACCTACCCGG 0.597000 15 26 0 0 0.000566183 0 0 PRELID2 153768 broad.mit.edu 37 5 145197560 145197560 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:145197560G>A ENST00000334744.4 - 5 353 c.301C>T c.(301-303)Cgg>Tgg p.R101W PRELID2_ENST00000505416.1_Missense_Mutation_p.R89W|PRELID2_ENST00000511435.1_Missense_Mutation_p.R89W|PRELID2_ENST00000358004.2_Missense_Mutation_p.R89W|PRELID2_ENST00000394450.2_Missense_Mutation_p.R60W NM_182960.2 NP_892005.1 Q8N945 PRLD2_HUMAN PRELI domain containing 2 101 PRELI/MSF1. endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTCTTTCCCGAGGATTGAGC 0.433000 5 26 0 0 0.00198382 0 0 FAM131A 131408 broad.mit.edu 37 3 184059642 184059642 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:184059642C>T ENST00000310585.4 + 1 1385 c.21C>T c.(19-21)tcC>tcT p.S7S EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000453072.1_Intron|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000450976.1_Intron Q6UXB0 F131A_HUMAN family with sequence similarity 131, member A 7 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCACTTTGTCCTTTCTCCTCC 0.572000 35 219 0 0 0.00195071 0 0 TRAV1-2 28692 broad.mit.edu 37 14 22111697 22111697 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:22111697G>A ENST00000390423.2 + 0 301 TGGTTTGGAGGAGAAAGGTCG 0.483000 26 191 0 0 0.00209593 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110530641 110530641 + Missense_Mutation SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:110530641A>G ENST00000378402.5 + 73 12039 c.11935A>G c.(11935-11937)Aga>Gga p.R3979G NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3979 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) CAGCAAAATAAGAGGGAAGAG 0.393000 HNSCC(38;0.096) 5 25 0 0 0.000602214 0 0 CREB3L3 84699 broad.mit.edu 37 19 4164509 4164509 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:4164509C>T ENST00000078445.2 + 5 733 c.586C>T c.(586-588)Cac>Tac p.H196Y CREB3L3_ENST00000595923.1_Missense_Mutation_p.H195Y|CREB3L3_ENST00000252587.3_Missense_Mutation_p.H136Y|CREB3L3_ENST00000602257.1_Missense_Mutation_p.H194Y|CREB3L3_ENST00000602147.1_Missense_Mutation_p.H196Y 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 3 196 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) GCAACAGCATCACCTGGGGGC 0.552000 48 146 0 0 0.000781405 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24523919 24523919 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:24523919G>A ENST00000376862.3 + 2 819 c.186G>A c.(184-186)ctG>ctA p.L62L NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 62 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 CGGCCAGCCTGGACAGCAGCA 0.627000 21 45 0 0 0.00188189 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18163816 18163816 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:18163816C>T ENST00000278816.2 + 9 2508 c.1858C>T c.(1858-1860)Cgt>Tgt p.R620C CSRP2BP_ENST00000435364.2_Missense_Mutation_p.R620C|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.R619C|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R492C Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 620 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 GTCACAGATTCGTTCCCACCT 0.507000 44 83 0 0 0.000680045 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819693 159819693 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:159819693G>A ENST00000497452.1 - 0 517 CCATCCTGTGGATCCCATTGT 0.493000 20 110 0 0 0.00152264 0 0 KLB 152831 broad.mit.edu 37 4 39408668 39408668 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:39408668G>A ENST00000257408.4 + 1 196 c.99G>A c.(97-99)ggG>ggA p.G33G NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 33 carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 TGTCCAACGGGGGATTGCAAA 0.438000 9 46 0 0 0.000274275 0 0 WWC1 23286 broad.mit.edu 37 5 167850856 167850856 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:167850856G>A ENST00000265293.4 + 11 2095 c.1593G>A c.(1591-1593)atG>atA p.M531I WWC1_ENST00000521089.1_Missense_Mutation_p.M531I 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 1 531 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) CAAAGTCCATGACCTCCCTAT 0.632000 6 29 0 0 0.00116845 0 0 MERTK 10461 broad.mit.edu 37 2 112761530 112761530 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:112761530C>T ENST00000295408.4 + 13 2093 c.1836C>T c.(1834-1836)acC>acT p.T612T MERTK_ENST00000421804.2_Silent_p.T612T|MERTK_ENST00000409780.1_Silent_p.T436T Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 612 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 AAGATGGGACCTCTCTGAAAG 0.468000 23 65 0 0 0.0024448 0 0 NHLRC2 374354 broad.mit.edu 37 10 115618409 115618409 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:115618409C>T ENST00000369301.3 + 2 513 c.301C>T c.(301-303)Cat>Tat p.H101Y NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 101 Thioredoxin. cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) GCCTGATCTCCATGCATTAGA 0.393000 24 123 0 0 0.000375601 0 0 DMWD 1762 broad.mit.edu 37 19 46289884 46289884 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:46289884G>A ENST00000270223.6 - 3 915 c.870C>T c.(868-870)ttC>ttT p.F290F DMWD_ENST00000377735.3_Silent_p.F290F NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 290 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GCGAGAAGGCGAACTCGTTGA 0.652000 10 28 0 0 0.000673444 0 0 ISYNA1 51477 broad.mit.edu 37 19 18547219 18547219 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:18547219C>T ENST00000545187.1 - 3 516 c.230G>A c.(229-231)tGg>tAg p.W77* ISYNA1_ENST00000578963.1_Nonsense_Mutation_p.W99*|ISYNA1_ENST00000317018.6_Nonsense_Mutation_p.W25*|ISYNA1_ENST00000338128.7_Nonsense_Mutation_p.W227*|ISYNA1_ENST00000457269.3_Nonsense_Mutation_p.W173* Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 227 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 12 GTTCGCCGTCCACAGCACTAT 0.627000 39 85 0 0 0.00222228 0 0 PRSS1 5644 broad.mit.edu 37 7 142458471 142458471 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:142458471C>T ENST00000486171.1 + 2 123 c.106C>T c.(106-108)Ccc>Tcc p.P36S PRSS1_ENST00000311737.7_Missense_Mutation_p.P36S P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 36 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GAATTCTGTCCCCTACCAGGT 0.527000 7 106 0 0 0.00198382 0 0 OLFM3 118427 broad.mit.edu 37 1 102290780 102290780 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:102290780C>T ENST00000370103.4 - 4 607 c.394G>A c.(394-396)Gag>Aag p.E132K OLFM3_ENST00000359814.3_Missense_Mutation_p.E152K|OLFM3_ENST00000338858.5_Missense_Mutation_p.E152K|OLFM3_ENST00000536598.1_Missense_Mutation_p.E57K|OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 152 extracellular region p.E132Q(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GGCAGGAGCTCGTCCATTTTC 0.413000 11 21 0 0 0.000219431 0 0 ATP8B4 79895 broad.mit.edu 37 15 50215657 50215657 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:50215657G>A ENST00000284509.6 - 17 1818 c.1677C>T c.(1675-1677)tcC>tcT p.S559S ATP8B4_ENST00000559829.1_Silent_p.S559S NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 559 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) CTGCTCCTTTGGAATAAAGCT 0.373000 6 29 0 0 0.00116845 0 0 ZC3H6 376940 broad.mit.edu 37 2 113088891 113088891 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:113088891C>T ENST00000409871.1 + 12 2797 c.2396C>T c.(2395-2397)tCt>tTt p.S799F ZC3H6_ENST00000343936.4_Missense_Mutation_p.S799F NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 799 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 ATAGGCTCTTCTGTTGGTGGA 0.448000 31 87 0 0 0.00178596 0 0 MYO7A 4647 broad.mit.edu 37 11 76922920 76922920 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:76922920C>T ENST00000409709.3 + 46 6564 c.6292C>T c.(6292-6294)Ctg>Ttg p.L2098L MYO7A_ENST00000458637.2_Silent_p.L2060L|MYO7A_ENST00000409619.2_Silent_p.L2049L|MYO7A_ENST00000605744.1_3'UTR NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 2098 FERM 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGAGGCCAAGCTGGCCTTCCT 0.597000 16 25 0 0 0.00121646 0 0 BAHD1 22893 broad.mit.edu 37 15 40754187 40754187 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:40754187C>T ENST00000561234.1 + 3 1765 c.1506C>T c.(1504-1506)ctC>ctT p.L502L BAHD1_ENST00000416165.1_Silent_p.L503L|BAHD1_ENST00000560846.1_Silent_p.L503L Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 503 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CCCACCCACTCCTGGGGTGCC 0.652000 7 33 0 0 0.000157383 0 0 FAM221A 340277 broad.mit.edu 37 7 23731146 23731146 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:23731146G>A ENST00000344962.4 + 4 657 c.568G>A c.(568-570)Gcc>Acc p.A190T FAM221A_ENST00000409994.3_Missense_Mutation_p.A132T|FAM221A_ENST00000409653.1_Missense_Mutation_p.A132T|FAM221A_ENST00000409192.3_Missense_Mutation_p.A190T NM_199136.3 NP_954587.2 A4D161 CG046_HUMAN family with sequence similarity 221, member A 190 TCCTTATGCAGCCATGGGAGG 0.478000 40 90 0 0 0.00195071 0 0 OR51M1 390059 broad.mit.edu 37 11 5411009 5411009 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:5411009C>T ENST00000328611.3 + 1 403 c.381C>T c.(379-381)ctC>ctT p.L127L AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 127 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTCAGTGCTCCTCATGATGT 0.493000 26 188 0 0 0.001512 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276920 71276920 + Missense_Mutation SNP C C T rs36179995 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:71276920C>T ENST00000398531.1 + 1 312 c.287C>T c.(286-288)tCc>tTc p.S96F KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 96 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGCTGTGGCTCCTGTGGGGGC 0.687000 17 71 0 0 0.00229938 0 0 C22orf42 150297 broad.mit.edu 37 22 32548057 32548057 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:32548057G>A ENST00000382097.3 - 4 469 c.397C>T c.(397-399)Cac>Tac p.H133Y NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 133 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 TACGTACGGTGGTCGTGCTTG 0.358000 16 65 0 0 0.000422831 0 0 WDR16 146845 broad.mit.edu 37 17 9515626 9515626 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:9515626G>A ENST00000352665.5 + 8 924 c.854_splice c.e8-1 p.K285_splice WDR16_ENST00000299764.5_Splice_Site_p.K295_splice|WDR16_ENST00000396219.3_Splice_Site_p.K217_splice NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 285 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 CTCCCTAAAGGAAGATTCAGT 0.413000 30 51 0 0 0.00111076 0 0 SPEG 10290 broad.mit.edu 37 2 220357315 220357315 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:220357315G>A ENST00000312358.7 + 41 9743 c.e41-1 AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_Splice_Site NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTGCCTGGCAGGAGCCGGCCC 0.667000 46 136 0 0 0.000781405 0 0 TBXAS1 6916 broad.mit.edu 37 7 139717612 139717612 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:139717612C>T ENST00000263552.6 + 16 2047 c.1509C>T c.(1507-1509)ttC>ttT p.F503F TBXAS1_ENST00000425687.1_Silent_p.F435F|TBXAS1_ENST00000458722.1_Silent_p.F548F|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000448866.1_Silent_p.F502F|TBXAS1_ENST00000436047.2_Silent_p.F503F|TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000336425.5_Silent_p.F502F|TBXAS1_ENST00000416849.2_Silent_p.F549F NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 502 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) AGTTCCGGTTCCAAGCCTGCC 0.682000 30 73 0 0 0.00058488 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50421649 50421649 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:50421649G>A ENST00000435965.1 - 6 803 c.630C>T c.(628-630)atC>atT p.I210I CACNA2D2_ENST00000266039.3_Silent_p.I210I|CACNA2D2_ENST00000479441.1_Silent_p.I210I|CACNA2D2_ENST00000395083.1_Silent_p.I210I|CACNA2D2_ENST00000423994.2_Silent_p.I210I|CACNA2D2_ENST00000360963.3_Silent_p.I141I|CACNA2D2_ENST00000429770.1_Silent_p.I210I|CACNA2D2_ENST00000424201.2_Silent_p.I210I Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 210 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TGTCCGTAGGGATCTGTACAG 0.562000 69 214 0 0 0.000781405 0 0 STAG3 10734 broad.mit.edu 37 7 99800132 99800132 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:99800132C>T ENST00000426455.1 + 25 3026 c.2619C>T c.(2617-2619)ctC>ctT p.L873L STAG3_ENST00000394018.2_Silent_p.L815L|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.L873L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR Q9UJ98 STAG3_HUMAN stromal antigen 3 873 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCGCCGCCTCCTAGCCGGGT 0.527000 66 139 0 0 0.000781405 0 0 SCGB1D2 10647 broad.mit.edu 37 11 62010858 62010858 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:62010858C>T ENST00000244926.3 + 2 251 c.153C>T c.(151-153)gcC>gcT p.A51A RP11-703H8.9_ENST00000529875.1_RNA NM_006551.3 NP_006542.1 O95969 SG1D2_HUMAN secretoglobin, family 1D, member 2 51 extracellular space binding breast(1)|endometrium(1)|lung(1) 3 AATTTGATGCCCCTCCGGAAG 0.478000 27 49 0 0 0.00178596 0 0 SERPINB2 5055 broad.mit.edu 37 18 61569055 61569055 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:61569055G>A ENST00000457692.1 + 7 950 c.617G>A c.(616-618)gGa>gAa p.G206E SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.G206E NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 206 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity p.G206E(1) NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TACTTCAAAGGAAAGTGGAAA 0.383000 13 31 0 0 0.000308642 0 0 DIO3 1735 broad.mit.edu 37 14 102028428 102028428 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:102028428G>A ENST00000510508.4 + 1 741 c.595G>A c.(595-597)Gag>Aag p.E199K DIO3_ENST00000359323.3_Missense_Mutation_p.E173K P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 173 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) CATCTACATCGAGGAAGCGCA 0.642000 15 84 0 0 0.000566183 0 0 PTPRT 11122 broad.mit.edu 37 20 41419927 41419927 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:41419927C>T ENST00000373198.3 - 3 629 c.394G>A c.(394-396)Ggg>Agg p.G132R PTPRT_ENST00000373190.1_Missense_Mutation_p.G132R|PTPRT_ENST00000373184.1_Missense_Mutation_p.G132R|PTPRT_ENST00000373187.1_Missense_Mutation_p.G132R|PTPRT_ENST00000373201.1_Missense_Mutation_p.G132R|PTPRT_ENST00000373193.3_Missense_Mutation_p.G132R|PTPRT_ENST00000356100.2_Missense_Mutation_p.G132R NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 132 MAM. 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) ACAGGGTTCCCTTGGGGGCCA 0.572000 21 61 0 0 0.00121646 0 0 AMOTL2 51421 broad.mit.edu 37 3 134079153 134079153 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:134079153G>A ENST00000514516.1 - 7 2030 c.1852C>T c.(1852-1854)Ctg>Ttg p.L618L AMOTL2_ENST00000513145.1_Silent_p.L558L|AMOTL2_ENST00000249883.5_Silent_p.L560L|AMOTL2_ENST00000422605.2_Silent_p.L560L NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 560 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 TCCAGCGCCAGGATCTGCTCC 0.612000 10 53 0 0 0.000673444 0 0 NPAP1 23742 broad.mit.edu 37 15 24922235 24922235 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:24922235C>T ENST00000329468.2 + 1 1695 c.1221C>T c.(1219-1221)acC>acT p.T407T NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTGTGCAGACCACAGACTCCC 0.532000 5 40 0 0 0.000602214 0 0 PCNT 5116 broad.mit.edu 37 21 47847571 47847571 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:47847571C>T ENST00000359568.5 + 34 7463 c.7356C>T c.(7354-7356)gaC>gaT p.D2452D PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2452 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) GGAGAGGGGACCTTCTGCAGG 0.567000 15 87 0 0 0.000566183 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869722 22869722 + Missense_Mutation SNP T T G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:22869722T>G ENST00000302097.3 - 2 485 c.233A>C c.(232-234)cAc>cCc p.H78P NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 78 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) TTGACGGAAGTGGCCTTTCTT 0.468000 36 117 0 0 0.00148497 0 0 SPTB 6710 broad.mit.edu 37 14 65263392 65263392 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:65263392C>T ENST00000389722.3 - 10 1277 c.1224G>A c.(1222-1224)ctG>ctA p.L408L SPTB_ENST00000389720.3_Silent_p.L408L|SPTB_ENST00000389721.5_Silent_p.L408L|SPTB_ENST00000542895.1_Silent_p.L408L|SPTB_ENST00000556626.1_Silent_p.L408L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 408 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TTCTCAGGGCCAGCTCCCGCC 0.572000 8 44 0 0 0.000157383 0 0 COL1A1 1277 broad.mit.edu 37 17 48268796 48268796 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:48268796C>T ENST00000225964.5 - 32 2301 c.2183G>A c.(2182-2184)gGa>gAa p.G728E NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 728 Triple-helical region. G -> R (in OI2A). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ACCAGGCATTCCCTGAAGGCC 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 34 61 0 0 0.000509022 0 0 CEP76 79959 broad.mit.edu 37 18 12699154 12699154 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:12699154C>T ENST00000262127.2 - 4 569 c.344G>A c.(343-345)gGa>gAa p.G115E RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000423709.2_Intron|CEP76_ENST00000586887.1_5'UTR NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 115 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GAAAGCTTTTCCACCCAAAAC 0.363000 19 121 0 0 0.000375601 0 0 CUL4A 8451 broad.mit.edu 37 13 113899533 113899533 + Silent SNP C C T rs141571594 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:113899533C>T ENST00000451881.1 + 14 1461 c.1212C>T c.(1210-1212)atC>atT p.I404I CUL4A_ENST00000375441.3_Silent_p.I404I|CUL4A_ENST00000326335.4_Silent_p.I404I|CUL4A_ENST00000375440.4_Silent_p.I504I NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 504 cell cycle arrest|DNA repair|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 Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) CGAAGGACATCATGGTTCATT 0.488000 8 39 0 0 0.000673444 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374282 95374282 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:95374282C>T ENST00000494840.1 - 0 1579 NR_077228.1 CCACATTCTTCCCTAGGGTTG 0.463000 7 29 0 0 0.000157383 0 0 ADH1B 125 broad.mit.edu 37 4 100237121 100237121 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:100237121C>T ENST00000305046.8 - 5 568 c.501G>A c.(499-501)ctG>ctA p.L167L ADH1B_ENST00000394887.3_Silent_p.L127L P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 167 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) AGACTTTCTCCAGGGGCGAGG 0.522000 13 73 0 0 0.000219431 0 0 C1orf85 112770 broad.mit.edu 37 1 156264212 156264212 + Missense_Mutation SNP C C G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:156264212C>G ENST00000362007.1 - 3 549 c.523G>C c.(523-525)Ggc>Cgc p.G175R C1orf85_ENST00000368264.1_Missense_Mutation_p.G89R|C1orf85_ENST00000472870.1_Intron NM_001256604.1|NM_001256609.1|NM_144580.2 NP_001243533.1|NP_001243538.1|NP_653181.1 Q8WWB7 NCUG1_HUMAN chromosome 1 open reading frame 85 175 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) ATGGGGTGGCCTTGAAATGTG 0.507000 9 65 0 0 0.000442599 0 0 RELN 5649 broad.mit.edu 37 7 103214583 103214583 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:103214583C>T ENST00000428762.1 - 30 4626 c.4467G>A c.(4465-4467)ggG>ggA p.G1489G RELN_ENST00000343529.5_Silent_p.G1489G|RELN_ENST00000424685.2_Silent_p.G1489G NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1489 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) CTTCCCTTTTCCCAGGGCCAT 0.468000 34 119 0 0 0.000680045 0 0 NRXN1 9378 broad.mit.edu 37 2 51254950 51254950 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:51254950G>A ENST00000404971.1 - 2 1801 c.462C>T c.(460-462)ttC>ttT p.F154F NRXN1_ENST00000402717.3_Silent_p.F154F|NRXN1_ENST00000401669.2_Silent_p.F154F|NRXN1_ENST00000405472.3_Silent_p.F154F|NRXN1_ENST00000406316.2_Silent_p.F154F|NRXN1_ENST00000406859.3_Silent_p.F154F|NRXN1_ENST00000405581.1_Silent_p.F154F NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 154 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCCCCCCGACGAAAAGGCCGC 0.662000 6 16 0 0 0.00116845 0 0 TEX2 55852 broad.mit.edu 37 17 62291174 62291174 + Missense_Mutation SNP G G A rs76631276 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:62291174G>A ENST00000258991.3 - 2 488 c.404C>T c.(403-405)tCc>tTc p.S135F TEX2_ENST00000583097.1_Missense_Mutation_p.S135F|TEX2_ENST00000584379.1_Missense_Mutation_p.S135F Q8IWB9 TEX2_HUMAN testis expressed 2 135 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CGACCCTGGGGACACAGCCAA 0.542000 30 74 0 0 0.000814825 0 0 INTS9 55756 broad.mit.edu 37 8 28638404 28638404 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:28638404G>A ENST00000416984.2 - 11 1502 c.1143C>T c.(1141-1143)ttC>ttT p.F381F INTS9_ENST00000397363.4_Silent_p.F296F|INTS9_ENST00000521070.1_5'UTR|INTS9_ENST00000521777.1_Silent_p.F378F|INTS9_ENST00000521022.1_Silent_p.F402F NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 402 snRNA processing integrator complex protein binding p.F402F(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) CCACGTCCCCGAAGCGGAGGG 0.493000 6 46 0 0 0.00116845 0 0 ASB15 142685 broad.mit.edu 37 7 123269251 123269251 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:123269251C>T ENST00000451558.1 + 12 1724 c.1203C>T c.(1201-1203)tcC>tcT p.S401S ASB15_ENST00000434204.1_Silent_p.S401S|ASB15_ENST00000451215.1_Silent_p.S401S|ASB15_ENST00000540573.1_Silent_p.S401S|ASB15_ENST00000275699.3_Silent_p.S401S Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 401 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 TGCTTCTCTCCCATGGAGCTA 0.443000 35 57 0 0 0.0024448 0 0 POC1B-GALNT4 100528030 broad.mit.edu 37 12 89917128 89917128 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:89917128G>A ENST00000548729.1 - 3 1492 c.1190C>T c.(1189-1191)cCa>cTa p.P397L POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.P228L|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|GALNT4_ENST00000529983.2_Missense_Mutation_p.P400L|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 TTTTCTTGCTGGAGGGTTTCT 0.423000 35 66 0 0 0.000953801 0 0 ERC2 26059 broad.mit.edu 37 3 56468714 56468714 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:56468714C>T ENST00000288221.6 - 2 577 c.322G>A c.(322-324)Gga>Aga p.G108R NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 108 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) TGGGAAAGTCCAGCAGAAGCA 0.527000 27 75 0 0 0.00106085 0 0 GALNT13 114805 broad.mit.edu 37 2 155307062 155307062 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:155307062G>A ENST00000392825.3 + 13 2237 c.1670G>A c.(1669-1671)tGa>tAa p.*557* AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 0 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TTGGGCACATGAAGATCATGT 0.403000 8 18 0 0 0.000274275 0 0 KANSL3 55683 broad.mit.edu 37 2 97267445 97267445 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:97267445G>A ENST00000599854.1 - 20 2757 c.2290C>T c.(2290-2292)Cct>Tct p.P764S KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.P671S|KANSL3_ENST00000431828.1_Missense_Mutation_p.P851S|KANSL3_ENST00000441706.2_Intron NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 877 Ser-rich. GAGCCCATAGGGCTCAGTGTA 0.562000 9 20 0 0 0.000673444 0 0 PRAM1 84106 broad.mit.edu 37 19 8564377 8564377 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:8564377C>T ENST00000423345.4 - 2 835 c.315G>A c.(313-315)aaG>aaA p.K105K PRAM1_ENST00000255612.3_Silent_p.K105K Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 153 8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GCGGGGGCTTCTTGGGGAGGT 0.657000 52 273 0 0 0.000781405 0 0 CSRP1 1465 broad.mit.edu 37 1 201453853 201453853 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:201453853G>A ENST00000367306.1 - 7 933 c.570C>T c.(568-570)gtC>gtT p.V190V CSRP1_ENST00000340006.2_Silent_p.V190V|CSRP1_ENST00000532460.1_Silent_p.V190V|CSRP1_ENST00000526723.1_Silent_p.V157V|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000533432.1_Silent_p.V190V P21291 CSRP1_HUMAN cysteine and glycine-rich protein 1 190 nucleus zinc ion binding large_intestine(3)|lung(2)|ovary(1) 6 ACTCAGAGTGGACCAAGGCCC 0.542000 14 26 0 0 0.000219431 0 0 CYTH1 9267 broad.mit.edu 37 17 76694375 76694375 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:76694375G>A ENST00000589297.1 - 9 1302 c.610C>T c.(610-612)Cga>Tga p.R204* CYTH1_ENST00000361101.4_Nonsense_Mutation_p.R263*|CYTH1_ENST00000591455.1_Nonsense_Mutation_p.R263*|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Nonsense_Mutation_p.R204*|CYTH1_ENST00000446868.3_Nonsense_Mutation_p.R263* Q15438 CYH1_HUMAN cytohesin 1 263 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 CAGCCTTCTCGGTCTGGATTG 0.478000 65 93 0 0 0.000781405 0 0 ERC2 26059 broad.mit.edu 37 3 56468774 56468774 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:56468774G>A ENST00000288221.6 - 2 517 c.262C>T c.(262-264)Cga>Tga p.R88* NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 88 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) TATACAGCTCGATTTGTAGCC 0.498000 25 88 0 0 0.00209593 0 0 NLRP4 147945 broad.mit.edu 37 19 56363457 56363457 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:56363457C>T ENST00000301295.6 + 2 433 c.11C>T c.(10-12)tCt>tTt p.S4F NLRP4_ENST00000346986.5_Missense_Mutation_p.S4F NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 4 DAPIN. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATGGCAGCCTCTTTCTTCTCT 0.398000 58 141 0 0 0.000781405 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39421260 39421260 + Silent SNP C C G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:39421260C>G ENST00000216099.7 + 3 803 c.396C>G c.(394-396)gcC>gcG p.A132A APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.A132A NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 132 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) CCATCTCTGCCGCCCGCCTCT 0.562000 25 70 0 0 0.000586117 0 0 TEX15 56154 broad.mit.edu 37 8 30700826 30700826 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:30700826G>A ENST00000256246.2 - 1 5782 c.5708C>T c.(5707-5709)tCc>tTc p.S1903F NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1903 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) TTTGCTGAAGGATTGTGTTCT 0.348000 25 78 0 0 0.000878237 0 0 ETS1 2113 broad.mit.edu 37 11 128354817 128354817 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:128354817G>A ENST00000392668.3 - 7 831 c.763C>T c.(763-765)Cga>Tga p.R255* ETS1_ENST00000319397.5_Nonsense_Mutation_p.R211*|ETS1_ENST00000345075.4_Nonsense_Mutation_p.R211*|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.1_Nonsense_Mutation_p.R211*|ETS1_ENST00000531611.1_Nonsense_Mutation_p.R211* NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 211 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 p.R211*(1) 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) AGAGGGTCTCGGAGAATGACC 0.532000 23 30 0 0 0.00127121 0 0 ZNF280A 129025 broad.mit.edu 37 22 22868538 22868538 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:22868538C>T ENST00000302097.3 - 2 1669 c.1417G>A c.(1417-1419)Gac>Aac p.D473N NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 473 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) GTTTGATGGTCCTTGGTTTTG 0.453000 50 121 0 0 0.000781405 0 0 COL23A1 91522 broad.mit.edu 37 5 177686725 177686725 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:177686725C>T ENST00000390654.3 - 12 1083 c.726G>A c.(724-726)aaG>aaA p.K242K COL23A1_ENST00000407622.1_Silent_p.K206K NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 242 Collagen-like 1.|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) CTCTCACCTTCTTTCCAGGTA 0.622000 30 107 0 0 0.000953801 0 0 IGHV2-5 28457 broad.mit.edu 37 14 106494266 106494266 + RNA SNP C C T rs1065550 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:106494266C>T ENST00000390597.2 - 0 245 CGCTTATCATCATTCCAATAA 0.537000 7 38 0 0 0.00198382 0 0 ASAH1 427 broad.mit.edu 37 8 17930773 17930773 + Silent SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:17930773A>T ENST00000314146.10 - 3 369 c.186T>A c.(184-186)gcT>gcA p.A62A ASAH1_ENST00000417108.2_Intron|ASAH1_ENST00000520051.1_Intron|ASAH1_ENST00000520781.1_Intron|ASAH1_ENST00000262097.6_Intron|ASAH1_ENST00000381733.4_Intron NM_001127505.1 NP_001120977.1 Q13510 ASAH1_HUMAN N-acylsphingosine amidohydrolase (acid ceramidase) 1 42 ceramide metabolic process lysosome ceramidase activity breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228) ACCTTATAACAGCAGGGAAGA 0.323000 6 22 0 0 0.00198382 0 0 LRRK1 79705 broad.mit.edu 37 15 101567520 101567520 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:101567520C>T ENST00000284395.5 + 19 2851 c.2451C>T c.(2449-2451)ttC>ttT p.F817F LRRK1_ENST00000388948.3_Silent_p.F820F Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 820 Roc. 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) AGCTGATTTTCCACGTCACGT 0.572000 10 63 0 0 0.000673444 0 0 APBB1IP 54518 broad.mit.edu 37 10 26792173 26792173 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:26792173G>A ENST00000376236.4 + 6 956 c.501G>A c.(499-501)ctG>ctA p.L167L NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 167 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 AGCTGGCGCTGGAAAAACTGA 0.413000 9 78 0 0 0.000274275 0 0 GPR50 9248 broad.mit.edu 37 X 150348569 150348569 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:150348569G>A ENST00000218316.3 + 2 583 c.514G>A c.(514-516)Gat>Aat p.D172N NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 172 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CATCGAGTACGATCCTCGCAC 0.527000 41 54 0 0 0.00170553 0 0 ACTL7B 10880 broad.mit.edu 37 9 111618082 111618082 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:111618082G>A ENST00000374667.3 - 1 1157 c.129C>T c.(127-129)ccC>ccT p.P43P NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 43 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GCACCTTCCTGGGCTTCATCT 0.647000 63 78 0 0 0.000781405 0 0 FOXK2 3607 broad.mit.edu 37 17 80541952 80541952 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:80541952C>T ENST00000335255.5 + 6 1341 c.1167C>T c.(1165-1167)acC>acT p.T389T NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 389 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) GCGCCCAGACCCCTGAGAGCC 0.637000 13 19 0 0 0.000219431 0 0 FGF13 2258 broad.mit.edu 37 X 137717816 137717816 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:137717816C>T ENST00000315930.6 - 4 1064 c.402_splice c.e4-1 p.E135_splice FGF13_ENST00000441825.2_Splice_Site_p.E116_splice|FGF13_ENST00000370603.3_Splice_Site_p.E145_splice|FGF13_ENST00000541469.1_Splice_Site_p.E89_splice|FGF13_ENST00000305414.4_Splice_Site_p.E82_splice NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 135 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) GTGAAAAGTTCCTGCAACAAA 0.348000 6 5 0 0 0.00116845 0 0 ARID2 196528 broad.mit.edu 37 12 46244517 46244517 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:46244517C>T ENST00000334344.6 + 15 2783 c.2611C>T c.(2611-2613)Cag>Tag p.Q871* ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q481*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q722* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 871 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ACAGAATTTTCAGGTAGCTAC 0.448000 """N, S, F""" hepatocellular carcinoma 19 36 0 0 0.000958276 0 0 ROS1 6098 broad.mit.edu 37 6 117681170 117681170 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:117681170G>A ENST00000368508.3 - 23 3648 c.3450C>T c.(3448-3450)atC>atT p.I1150I GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.I1145I NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1150 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) GAAATGGGTTGATTTCTGAAA 0.343000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 8 20 0 0 0.000442599 0 0 TMEM132B 114795 broad.mit.edu 37 12 126135239 126135239 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:126135239G>A ENST00000299308.3 + 7 1647 c.1639G>A c.(1639-1641)Gaa>Aaa p.E547K TMEM132B_ENST00000535886.1_Missense_Mutation_p.E59K NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 547 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) GCCTACCCGGGAAAGCGATGA 0.537000 13 21 0 0 0.000219431 0 0 FAM153B 202134 broad.mit.edu 37 5 175530253 175530253 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:175530253G>A ENST00000253490.4 + 13 745 c.688G>A c.(688-690)Gag>Aag p.E230K FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000510151.1_Missense_Mutation_p.E153K|FAM153B_ENST00000515817.1_Missense_Mutation_p.E153K P0C7A2 F153B_HUMAN family with sequence similarity 153, member B 230 endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) TGTACTTCAGGAGCTGTCCAG 0.488000 22 299 0 0 0.001512 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182909608 182909608 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:182909608G>A ENST00000367547.3 - 3 862 c.626C>T c.(625-627)tCt>tTt p.S209F SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.S90F NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 281 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 AATGTTGGAAGAAAAGGGCTC 0.383000 10 81 0 0 0.000673444 0 0 PLA2G6 8398 broad.mit.edu 37 22 38536078 38536078 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:38536078G>A ENST00000332509.3 - 5 891 c.708C>T c.(706-708)gtC>gtT p.V236V PLA2G6_ENST00000402064.1_Silent_p.V236V|PLA2G6_ENST00000335539.3_Silent_p.V236V NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 236 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) GCAGCACGCGGACCATCTCCT 0.612000 11 41 0 0 0.000978159 0 0 TSPEAR 54084 broad.mit.edu 37 21 45948356 45948356 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:45948356C>T ENST00000323084.4 - 6 966 c.901G>A c.(901-903)Gag>Aag p.E301K TSPEAR_ENST00000397916.1_Missense_Mutation_p.E233K NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 301 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 GAGACCCACTCGTTGCCAACA 0.632000 28 124 0 0 0.001512 0 0 MDC1 9656 broad.mit.edu 37 6 30680528 30680528 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:30680528G>A ENST00000376406.3 - 5 1838 c.1191C>T c.(1189-1191)tcC>tcT p.S397S MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.S397S NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 397 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TGATAACCATGGAAGCTTGGC 0.537000 Other conserved DNA damage response genes 27 45 0 0 0.001512 0 0 SUN1 23353 broad.mit.edu 37 7 883214 883214 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:883214C>T ENST00000457378.2 + 7 1014 c.778C>T c.(778-780)Cct>Tct p.P260S SUN1_ENST00000401592.1_Intron|SUN1_ENST00000456758.2_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000403868.1_Missense_Mutation_p.P239S|SUN1_ENST00000452783.2_Intron NM_001171945.1 NP_001165416.1 O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 0 EMD-binding.|SYNE2-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTTAATATTTCCTTTCTGTAA 0.393000 14 64 0 0 0.00185496 0 0 NPTXR 23467 broad.mit.edu 37 22 39222561 39222561 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:39222561C>T ENST00000333039.2 - 3 1165 c.1042G>A c.(1042-1044)Gag>Aag p.E348K NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 348 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) AGTACAATCTCGTTGGCCTGC 0.672000 33 90 0 0 0.00058488 0 0 ABLIM3 22885 broad.mit.edu 37 5 148579908 148579908 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:148579908C>T ENST00000506113.1 + 4 847 c.365C>T c.(364-366)aCc>aTc p.T122I ABLIM3_ENST00000309868.7_Missense_Mutation_p.T122I|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.T122I|ABLIM3_ENST00000508983.1_Missense_Mutation_p.T122I|ABLIM3_ENST00000356541.3_Missense_Mutation_p.T122I|ABLIM3_ENST00000504238.1_Missense_Mutation_p.T122I O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 122 LIM zinc-binding 2. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAAGGTGACCTTCAGCGGT 0.542000 7 27 0 0 0.000442599 0 0 PTGFRN 5738 broad.mit.edu 37 1 117509892 117509892 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:117509892C>T ENST00000393203.2 + 6 2146 c.1999C>T c.(1999-2001)Ctt>Ttt p.L667F PTGFRN_ENST00000496699.1_3'UTR NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 667 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) CAGGGGCAGCCTTTGGCGAGA 0.542000 12 44 0 0 0.00185496 0 0 TDRD9 122402 broad.mit.edu 37 14 104470649 104470649 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:104470649G>A ENST00000409874.4 + 14 1606 c.1558G>A c.(1558-1560)Gat>Aat p.D520N TDRD9_ENST00000339063.5_Missense_Mutation_p.D520N NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 520 Helicase C-terminal. cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) CTCCATCCCTGATCATGTTGT 0.393000 9 30 0 0 0.000978159 0 0 TBCE 6905 broad.mit.edu 37 1 235600750 235600750 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:235600750C>T ENST00000543662.1 + 13 1336 c.1230C>T c.(1228-1230)atC>atT p.I410I TBCE_ENST00000406207.1_Silent_p.I359I|TBCE_ENST00000366601.3_Silent_p.I359I|TBCE_ENST00000472011.1_3'UTR 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 25 51 0 0 0.00127121 0 0 FADS2 9415 broad.mit.edu 37 11 61607868 61607868 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:61607868G>A ENST00000278840.4 + 3 1011 c.381G>A c.(379-381)aaG>aaA p.K127K FADS2_ENST00000257261.6_Silent_p.K105K|FADS2_ENST00000521849.1_Silent_p.K127K|FADS2_ENST00000522056.1_Silent_p.K96K NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 127 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) ACCTGTTCAAGACCAACCACG 0.532000 62 84 0 0 0.000781405 0 0 ACAN 176 broad.mit.edu 37 15 89400471 89400471 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:89400471G>A ENST00000439576.2 + 12 5029 c.4655G>A c.(4654-4656)gGa>gAa p.G1552E ACAN_ENST00000352105.7_Missense_Mutation_p.G1552E|ACAN_ENST00000561243.1_Missense_Mutation_p.G1552E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1552E NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1552 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) CCTTCTGGAGGAGAAGGTCTA 0.537000 7 24 0 0 0.000274275 0 0 PGAP1 80055 broad.mit.edu 37 2 197708737 197708737 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:197708737G>A ENST00000354764.3 - 25 2514 c.2400C>T c.(2398-2400)caC>caT p.H800H NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 800 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 AACGAAGATGGTGTATTGAGG 0.363000 9 42 0 0 0.000673444 0 0 LBP 3929 broad.mit.edu 37 20 36993332 36993332 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:36993332G>A ENST00000217407.2 + 8 1008 c.847G>A c.(847-849)Gat>Aat p.D283N NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 283 D -> G (in dbSNP:rs2232607). 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) TGCCATCTCGGATTATGTCTT 0.468000 72 146 0 0 0.000781405 0 0 TMEM180 79847 broad.mit.edu 37 10 104235720 104235720 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:104235720C>T ENST00000238936.4 + 10 1770 c.1533C>T c.(1531-1533)acC>acT p.T511T TMEM180_ENST00000366277.2_Silent_p.T240T NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 511 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) AGGCCCAAACCCTGGATGTTA 0.557000 7 23 0 0 0.000442599 0 0 GEMIN8 54960 broad.mit.edu 37 X 14038617 14038617 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:14038617G>A ENST00000380523.4 - 4 370 c.52C>T c.(52-54)Cat>Tat p.H18Y GEMIN8_ENST00000398355.3_Missense_Mutation_p.H18Y|GEMIN8_ENST00000460203.1_5'UTR NM_017856.2 NP_060326.1 Q9NWZ8 GEMI8_HUMAN gem (nuclear organelle) associated protein 8 18 spliceosomal snRNP assembly Cajal body|cytoplasm|SMN complex|spliceosomal complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 9 TATACCGGATGAGAATACCAA 0.443000 18 36 0 0 0.000958276 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142479974 142479974 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:142479974C>T ENST00000603901.1 + 0 106 NR_001296.3 GAATTCTGTCCCCTACCAGGT 0.547000 9 122 0 0 0.000673444 0 0 CRYBB2 1415 broad.mit.edu 37 22 25621000 25621000 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:25621000G>A ENST00000398215.2 + 3 341 c.170G>A c.(169-171)gGa>gAa p.G57E NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 57 Beta/gamma crystallin 'Greek key' 2. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 GTGCAGGCTGGACCGTAAGTA 0.562000 21 60 0 0 0.00047179 0 0 GABRA6 2559 broad.mit.edu 37 5 161128565 161128565 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:161128565C>T ENST00000523217.1 + 9 1360 c.1118C>T c.(1117-1119)tCa>tTa p.S373L GABRA6_ENST00000274545.5_Missense_Mutation_p.S383L NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 383 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) CCAATAGTTTCATCTTCCGAG 0.448000 TCGA Ovarian(5;0.080) 11 72 0 0 0.000978159 0 0 APOBEC1 339 broad.mit.edu 37 12 7803668 7803668 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:7803668G>A ENST00000229304.4 - 4 532 c.512C>T c.(511-513)cCa>cTa p.P171L NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 171 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 CCACAGAGGTGGGTATTGTGG 0.438000 45 67 0 0 0.000680045 0 0 ABCA7 10347 broad.mit.edu 37 19 1051955 1051955 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:1051955C>T ENST00000263094.6 + 22 3208 c.2977C>T c.(2977-2979)Ctc>Ttc p.L993F ABCA7_ENST00000433129.1_Missense_Mutation_p.L993F|ABCA7_ENST00000435683.2_Missense_Mutation_p.L855F NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 993 ABC transporter 1. 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) CACGCTGATCCTCTCCACCCA 0.672000 23 83 0 0 0.000878237 0 0 ZNF337 26152 broad.mit.edu 37 20 25656527 25656527 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:25656527C>T ENST00000376436.1 - 4 1936 c.1397G>A c.(1396-1398)gGa>gAa p.G466E RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.G466E|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.G434E zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AAAGCCTCGTCCACAGTCCTT 0.473000 20 91 0 0 0.000375601 0 0 GRM8 2918 broad.mit.edu 37 7 126882981 126882981 + Missense_Mutation SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:126882981A>G ENST00000339582.2 - 2 1086 c.278T>C c.(277-279)cTt>cCt p.L93P GRM8_ENST00000358373.3_Missense_Mutation_p.L93P|GRM8_ENST00000405249.1_Missense_Mutation_p.L93P|GRM8_ENST00000444921.2_Missense_Mutation_p.L93P O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 93 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) GATGTTGGAAAGGAGATCAGG 0.498000 HNSCC(24;0.065) 9 16 0 0 0.000442599 0 0 MSX1 4487 broad.mit.edu 37 4 4864760 4864760 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:4864760G>A ENST00000382723.4 + 2 1036 c.802G>A c.(802-804)Ggt>Agt p.G268S NM_002448.3 NP_002439.2 P28360 MSX1_HUMAN msh homeobox 1 262 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 11 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGCCGCGGCGGGTGCCTCGCT 0.706000 11 23 0 0 0.000673444 0 0 OR2J2 26707 broad.mit.edu 37 6 29141959 29141959 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:29141959C>T ENST00000377167.2 + 1 649 c.547C>T c.(547-549)Cca>Tca p.P183S NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CTGTGAAGTTCCAGCACTTCT 0.438000 35 61 0 0 0.000692331 0 0 SNCAIP 9627 broad.mit.edu 37 5 121767676 121767676 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:121767676G>A ENST00000261367.7 + 8 2764 c.1336G>A c.(1336-1338)Gag>Aag p.E446K SNCAIP_ENST00000261368.8_Missense_Mutation_p.E399K|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E339K|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E446K|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E33K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E446K Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 399 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) TGGTCAGTTGGAGTGCGTACG 0.403000 5 12 0 0 0.00116845 0 0 APOM 55937 broad.mit.edu 37 6 31624370 31624370 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:31624370C>A ENST00000375916.3 + 2 732 c.236C>A c.(235-237)cCg>cAg p.P79Q APOM_ENST00000375918.2_Missense_Mutation_p.P7Q|APOM_ENST00000375920.4_Missense_Mutation_p.P7Q NM_019101.2 NP_061974.2 O95445 APOM_HUMAN apolipoprotein M 79 cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle binding|lipid transporter activity p.P79Q(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1) 7 GGCTCTGCCCCGATGCAGCTC 0.547000 10 334 0.00136819 0.00603289 0.00136819 1 0 AC096579.13 0 broad.mit.edu 37 2 89160118 89160118 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:89160118C>T ENST00000452230.1 - 0 39 AC096579.7_ENST00000430694.1_RNA GAAGGTGATCCACAGTGTTAA 0.388000 31 92 0 0 0.000692331 0 0 BAI2 576 broad.mit.edu 37 1 32193193 32193193 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:32193193G>A ENST00000373658.3 - 33 4927 c.4586C>T c.(4585-4587)cCt>cTt p.P1529L BAI2_ENST00000440175.2_Missense_Mutation_p.P1119L|BAI2_ENST00000398542.1_Missense_Mutation_p.P1410L|BAI2_ENST00000398547.1_Missense_Mutation_p.P1443L|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Missense_Mutation_p.P1495L|BAI2_ENST00000398556.3_Missense_Mutation_p.P1444L|BAI2_ENST00000373655.2_Missense_Mutation_p.P1528L|BAI2_ENST00000527361.1_Missense_Mutation_p.P1495L|BAI2_ENST00000398538.1_Missense_Mutation_p.P1498L NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1529 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GCGCTCCCCAGGGCTGGGCTT 0.617000 9 20 0 0 0.000442599 0 0 OR6K3 391114 broad.mit.edu 37 1 158687584 158687584 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:158687584C>T ENST00000368146.1 - 1 369 c.370G>A c.(370-372)Gaa>Aaa p.E124K OR6K3_ENST00000368145.1_Missense_Mutation_p.E108K Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TCTGAGTTTTCAAGTGAGTGG 0.498000 21 102 0 0 0.000375601 0 0 FAM188B 84182 broad.mit.edu 37 7 30825503 30825503 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:30825503C>A ENST00000265299.6 + 4 635 c.558C>A c.(556-558)caC>caA p.H186Q INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 186 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACAAGCTTCACTCGGAGCCTT 0.537000 26 60 1.06801e-11 4.78716e-11 0.00178596 1 0 AHNAK2 113146 broad.mit.edu 37 14 105406373 105406373 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:105406373C>T ENST00000333244.5 - 7 15534 c.15415G>A c.(15415-15417)Ggg>Agg p.G5139R AHNAK2_ENST00000557457.1_Missense_Mutation_p.G137R NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5139 G -> E (in dbSNP:rs61421370). nucleus p.G109R(1)|p.G5139R(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGACATCCCCGAGCCCACAT 0.582000 14 56 0 0 0.00185496 0 0 LGALS4 3960 broad.mit.edu 37 19 39299477 39299477 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:39299477C>T ENST00000307751.4 - 3 723 c.246G>A c.(244-246)ggG>ggA p.G82G LGALS4_ENST00000597803.1_Intron NM_006149.3 NP_006140.1 P56470 LEG4_HUMAN lectin, galactoside-binding, soluble, 4 82 Galectin 1. 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) TGCCCCACTTCCCGCCCTGCA 0.582000 30 49 0 0 0.00209593 0 0 HHLA2 11148 broad.mit.edu 37 3 108072555 108072555 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:108072555G>A ENST00000357759.5 + 4 760 c.346G>A c.(346-348)Gaa>Aaa p.E116K HHLA2_ENST00000491820.1_Missense_Mutation_p.E116K|HHLA2_ENST00000467562.1_Missense_Mutation_p.E52K|HHLA2_ENST00000467761.1_Missense_Mutation_p.E116K|HHLA2_ENST00000489514.2_Missense_Mutation_p.E116K NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 116 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 CCTTCTGGACGAAGGAATTTA 0.398000 6 37 0 0 0.000157383 0 0 TMEM132A 54972 broad.mit.edu 37 11 60703336 60703336 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:60703336G>A ENST00000005286.4 + 11 2185 c.2031_splice c.e11-1 p.E678_splice TMEM132A_ENST00000453848.2_Splice_Site_p.E677_splice NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 677 Binds to HSPA5/GRP78 (By similarity).|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 TGCCCCACAGGAGGTGGCCCT 0.612000 64 106 0 0 0.000781405 0 0 CTSE 1510 broad.mit.edu 37 1 206328852 206328852 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:206328852G>A ENST00000361052.3 + 7 1052 c.934G>A c.(934-936)Gat>Aat p.D312N CTSE_ENST00000432969.2_Intron|CTSE_ENST00000360218.2_Intron|CTSE_ENST00000358184.2_Missense_Mutation_p.D307N P14091 CATE_HUMAN cathepsin E 312 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) AGCCCCCGTGGATGGAGAAGT 0.602000 4 28 0 0 0.00198382 0 0 COL6A5 256076 broad.mit.edu 37 3 130159097 130159097 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:130159097G>A ENST00000265379.6 + 35 6409 c.5915G>A c.(5914-5916)cGg>cAg p.R1972Q COL6A5_ENST00000432398.2_Missense_Mutation_p.R1972Q A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 1972 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen p.R11Q(1)|p.R1972Q(1) endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 GACAATTCTCGGAATATAGCA 0.398000 9 20 0 0 0.000673444 0 0 RGPD4 285190 broad.mit.edu 37 2 108496519 108496519 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:108496519C>T ENST00000408999.3 + 21 5097 c.5020C>T c.(5020-5022)Cgg>Tgg p.R1674W RGPD4_ENST00000354986.4_Missense_Mutation_p.R1674W NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1674 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CGGCCTGCTTCGGGAAGCAGA 0.463000 57 162 0 0 0.000781405 0 0 STX17 55014 broad.mit.edu 37 9 102722256 102722256 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:102722256C>T ENST00000259400.6 + 5 609 c.473C>T c.(472-474)gCc>gTc p.A158V STX17_ENST00000525640.1_Missense_Mutation_p.A158V|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000534052.1_Missense_Mutation_p.A158V NM_017919.2 NP_060389.2 P56962 STX17_HUMAN syntaxin 17 158 intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CAGATATATGCCTTACCTGAA 0.368000 23 54 0 0 0.00127121 0 0 USH2A 7399 broad.mit.edu 37 1 216497628 216497628 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:216497628C>T ENST00000366943.2 - 7 1596 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K USH2A_ENST00000366942.3_Missense_Mutation_p.E404K|USH2A_ENST00000307340.3_Missense_Mutation_p.E404K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 404 Laminin N-terminal. 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) AAACTATTTTCCTTCTTCCTT 0.328000 HNSCC(13;0.011) 15 35 0 0 0.000422831 0 0 KLK7 5650 broad.mit.edu 37 19 51480807 51480807 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:51480807C>T ENST00000391807.1 - 6 848 c.747G>A c.(745-747)atG>atA p.M249I KLK7_ENST00000336317.4_Missense_Mutation_p.M136I|KLK7_ENST00000597707.1_Missense_Mutation_p.M177I|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.M249I NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 249 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) GATGCTTTTTCATGGTGTCAT 0.473000 23 61 0 0 0.000720815 0 0 FAM131A 131408 broad.mit.edu 37 3 184062320 184062320 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:184062320G>A ENST00000310585.4 + 3 1934 c.570G>A c.(568-570)caG>caA p.Q190Q EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Silent_p.Q98Q|FAM131A_ENST00000453072.1_Silent_p.Q136Q|FAM131A_ENST00000340957.5_Silent_p.Q136Q|FAM131A_ENST00000383847.2_Silent_p.Q221Q|FAM131A_ENST00000450976.1_Silent_p.Q136Q Q6UXB0 F131A_HUMAN family with sequence similarity 131, member A 190 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CGCACCTCCAGGACCTGTTCA 0.632000 20 152 0 0 0.000375601 0 0 HSF1 3297 broad.mit.edu 37 8 145535066 145535066 + Missense_Mutation SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:145535066G>C ENST00000528838.1 + 6 784 c.624G>C c.(622-624)aaG>aaC p.K208N HSF1_ENST00000400780.4_Missense_Mutation_p.K143N NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 208 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) TGAAGAGAAAGATGTGAGGTT 0.622000 18 78 0 0 0.000375601 0 0 ROR1 4919 broad.mit.edu 37 1 64605890 64605890 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:64605890G>A ENST00000371079.1 + 6 1084 c.709G>A c.(709-711)Gaa>Aaa p.E237K ROR1_ENST00000482426.1_3'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.E237K NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 237 FZ. 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 GTACTGCGATGAAACTTCATC 0.468000 20 73 0 0 0.00188189 0 0 TMC5 79838 broad.mit.edu 37 16 19451758 19451758 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:19451758G>A ENST00000396229.2 + 3 1147 c.398G>A c.(397-399)cGa>cAa p.R133Q TMC5_ENST00000541464.1_Missense_Mutation_p.R133Q|TMC5_ENST00000381414.4_Missense_Mutation_p.R133Q|TMC5_ENST00000542583.2_Missense_Mutation_p.R133Q NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 133 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 GGATCTCAACGAAATCCTGAT 0.498000 26 118 0 0 0.00106085 0 0 FMN2 56776 broad.mit.edu 37 1 240255920 240255920 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:240255920G>A ENST00000319653.9 + 1 741 c.511G>A c.(511-513)Gat>Aat p.D171N NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 171 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) AGGGGCGCAGGATGGACAAAG 0.632000 15 46 0 0 0.000958276 0 0 SLC26A7 115111 broad.mit.edu 37 8 92378861 92378861 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:92378861G>A ENST00000276609.3 + 14 1781 c.1542G>A c.(1540-1542)ctG>ctA p.L514L SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Silent_p.L514L|SLC26A7_ENST00000309536.2_Silent_p.L514L NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 514 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TTGTTTTCCTGAATGCAAAAA 0.338000 22 68 0 0 0.00229938 0 0 MB 4151 broad.mit.edu 37 22 36007086 36007086 + Missense_Mutation SNP C C T rs145465287 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:36007086C>T ENST00000397326.2 - 2 361 c.163G>A c.(163-165)Gag>Aag p.E55K MB_ENST00000406324.1_Missense_Mutation_p.E55K|MB_ENST00000359787.1_Missense_Mutation_p.E55K|MB_ENST00000397328.1_Missense_Mutation_p.E55K|MB_ENST00000401702.1_5'UTR NM_005368.2 NP_005359.1 P02144 MYG_HUMAN myoglobin 55 E -> K. heme binding|oxygen transporter activity lung(1) 1 GCCTTCATCTCGTCCTCTGAC 0.542000 33 85 0 0 0.000509022 0 0 H6PD 9563 broad.mit.edu 37 1 9324785 9324785 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:9324785C>T ENST00000377403.2 + 5 2535 c.2233C>T c.(2233-2235)Ctg>Ttg p.L745L H6PD_ENST00000602477.1_Silent_p.L756L NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 745 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding p.V744fs*6(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GGTGGCAGTCCTGGTCATGGG 0.657000 16 50 0 0 0.000566183 0 0 SCD5 79966 broad.mit.edu 37 4 83601881 83601881 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:83601881G>A ENST00000319540.4 - 3 867 c.548C>T c.(547-549)cCt>cTt p.P183L SCD5_ENST00000273908.4_Missense_Mutation_p.P183L NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 183 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) CCGGACCACAGGATCAGCAAG 0.512000 5 43 0 0 0.00116845 0 0 HECW2 57520 broad.mit.edu 37 2 197182013 197182013 + Missense_Mutation SNP C C T rs138652045 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:197182013C>T ENST00000260983.2 - 10 2601 c.2419G>A c.(2419-2421)Gag>Aag p.E807K HECW2_ENST00000409111.1_Missense_Mutation_p.E451K NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 807 Interaction with TP73.|WW 1. 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 GGGAGAGCCTCGTCCACCCTC 0.522000 6 30 0 0 0.00116845 0 0 PATL1 219988 broad.mit.edu 37 11 59423975 59423975 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:59423975G>A ENST00000300146.9 - 6 804 c.720C>T c.(718-720)gtC>gtT p.V240V NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 240 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 GACATACCGGGACACTGCAGA 0.458000 10 22 0 0 0.000673444 0 0 MTBP 27085 broad.mit.edu 37 8 121471542 121471542 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:121471542C>T ENST00000305949.1 + 8 880 c.835C>T c.(835-837)Ctt>Ttt p.L279F NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 279 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TACTGACTTCCTTGCCAAAAA 0.294000 16 72 0 0 0.000566183 0 0 PRKAA2 5563 broad.mit.edu 37 1 57159464 57159464 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:57159464G>A ENST00000371244.4 + 5 568 c.502G>A c.(502-504)Gaa>Aaa p.E168K NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 168 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 GTCAGATGGTGAATTTCTGAG 0.318000 77 172 0 0 0.000781405 0 0 ARPP21 10777 broad.mit.edu 37 3 35730874 35730874 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:35730874C>T ENST00000187397.4 + 7 938 c.482C>T c.(481-483)tCc>tTc p.S161F ARPP21_ENST00000337271.5_Missense_Mutation_p.S161F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S161F|ARPP21_ENST00000458225.1_Missense_Mutation_p.S161F|ARPP21_ENST00000444190.1_Missense_Mutation_p.S161F NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 161 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AAGAATAATTCCAGGTAAATT 0.328000 3 7 0 0 6.4e-05 0 0 CAD 790 broad.mit.edu 37 2 27445150 27445150 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:27445150C>T ENST00000264705.4 + 4 603 c.441C>T c.(439-441)tcC>tcT p.S147S CAD_ENST00000403525.1_Silent_p.S147S NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 147 GATase (Glutamine amidotransferase). '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) AACCTTCATCCCTGCCATTCT 0.542000 20 54 0 0 0.000958276 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047960 42047960 + Nonsense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:42047960C>A ENST00000372584.1 - 3 3523 c.2509G>T c.(2509-2511)Gga>Tga p.G837* HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.G837*|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.G837*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.G837* NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 837 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). 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) GCAGAGCGTCCGTGTGGGGCA 0.587000 7 174 0.000274275 0.00121629 0.000274275 1 0 ACSL6 23305 broad.mit.edu 37 5 131303700 131303700 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:131303700G>A ENST00000379264.2 - 16 1637 c.1529C>T c.(1528-1530)cCc>cTc p.P510L ACSL6_ENST00000379255.1_Missense_Mutation_p.P410L|ACSL6_ENST00000379240.1_Missense_Mutation_p.P485L|ACSL6_ENST00000296869.4_Missense_Mutation_p.P510L|ACSL6_ENST00000357096.1_Missense_Mutation_p.P410L|ACSL6_ENST00000379244.1_Missense_Mutation_p.P485L|ACSL6_ENST00000431707.1_Missense_Mutation_p.P465L|ACSL6_ENST00000543479.1_Missense_Mutation_p.P485L|ACSL6_ENST00000379272.2_Missense_Mutation_p.P500L|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379249.3_Missense_Mutation_p.P485L|ACSL6_ENST00000544770.1_Missense_Mutation_p.P394L|ACSL6_ENST00000379246.1_Missense_Mutation_p.P496L NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 485 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGATTGCAGGGAAGTGGCGC 0.488000 13 59 0 0 0.00136819 0 0 BRSK1 84446 broad.mit.edu 37 19 55820080 55820080 + Silent SNP C C T rs143699775 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:55820080C>T ENST00000309383.1 + 18 2440 c.2163C>T c.(2161-2163)tcC>tcT p.S721S BRSK1_ENST00000590333.1_Silent_p.S737S|BRSK1_ENST00000326848.7_Silent_p.S416S NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 721 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) ACCAGCCCTCCGTGCAGGCCC 0.721000 11 17 0 0 0.000219431 0 0 NGRN 51335 broad.mit.edu 37 15 90814499 90814499 + Silent SNP C C A rs11547112 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:90814499C>A ENST00000379095.3 + 3 363 c.355C>A c.(355-357)Cga>Aga p.R119R RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR NM_001033088.1 NP_001028260.2 Q9NPE2 NGRN_HUMAN neugrin, neurite outgrowth associated 119 neuron differentiation extracellular region|nucleus kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 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) TGATGTGATCCGAAGAGTTTT 0.473000 6 126 0.00198382 0.0087276 0.00198382 1 0 CD80 941 broad.mit.edu 37 3 119263484 119263484 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:119263484C>T ENST00000264246.3 - 3 693 c.331G>A c.(331-333)Gag>Aag p.E111K CD80_ENST00000383669.3_Missense_Mutation_p.E111K|CD80_ENST00000383668.3_Missense_Mutation_p.E111K|CD80_ENST00000478182.1_Missense_Mutation_p.E111K NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule 111 Ig-like V-type. interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) TATGTGCCCTCGTCAGATGGG 0.478000 29 59 0 0 0.00127121 0 0 FLG 2312 broad.mit.edu 37 1 152281751 152281751 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:152281751C>T ENST00000368799.1 - 3 5646 c.5611G>A c.(5611-5613)Gag>Aag p.E1871K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1871 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) GATTGTTTCTCATTACGTGTT 0.577000 Ichthyosis 93 186 0 0 0.000781405 0 0 SLC4A11 83959 broad.mit.edu 37 20 3209569 3209569 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:3209569G>A ENST00000380059.3 - 17 2337 c.2236C>T c.(2236-2238)Cat>Tat p.H746Y SLC4A11_ENST00000380056.3_Missense_Mutation_p.H719Y|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.H703Y NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 719 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 TAGGCGGCATGGATCCAAGGC 0.622000 22 52 0 0 0.000878237 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560950 44560950 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:44560950G>A ENST00000332567.4 - 1 1038 c.686C>T c.(685-687)tCg>tTg p.S229L KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 229 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTGGCGAGACGATTTGTGCCC 0.617000 10 20 0 0 0.000673444 0 0 CYP11B1 1584 broad.mit.edu 37 8 143957285 143957285 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:143957285G>A ENST00000292427.4 - 6 996 c.964C>T c.(964-966)Ccc>Tcc p.P322S CYP11B1_ENST00000377675.3_Missense_Mutation_p.P393S|CYP11B1_ENST00000517471.1_Missense_Mutation_p.P322S NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 322 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) ATCAGCAAGGGAAACACCGTC 0.647000 Familial Hyperaldosteronism type I 26 107 0 0 0.001512 0 0 ITGA1 3672 broad.mit.edu 37 5 52235458 52235458 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:52235458C>T ENST00000282588.6 + 25 3575 c.3117C>T c.(3115-3117)ttC>ttT p.F1039F CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 1039 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) AGGATCCTTTCAGTATCAACT 0.353000 5 34 0 0 0.00198382 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45970616 45970616 + Silent SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:45970616T>A ENST00000391621.1 - 1 772 c.726A>T c.(724-726)ccA>ccT p.P242P TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198693.2 NP_941966.1 P60368 KR102_HUMAN keratin associated protein 10-2 242 keratin filament large_intestine(1)|lung(4)|skin(1) 6 TGCAGGAGGCTGGGCGGGAGC 0.667000 19 67 0 0 0.00152264 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993277 140993277 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:140993277G>A ENST00000285879.4 + 4 373 c.87G>A c.(85-87)gaG>gaA p.E29E MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 29 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) CTGAGGGGGAGGACTCCCAGT 0.572000 HNSCC(15;0.026) 14 17 0 0 0.000219431 0 0 SYT10 341359 broad.mit.edu 37 12 33560282 33560282 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:33560282G>A ENST00000228567.3 - 3 815 c.519C>T c.(517-519)tcC>tcT p.S173S SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 173 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) GTCTTCGGAAGGAACTGTGGC 0.438000 26 58 0 0 0.00178596 0 0 OR4B1 119765 broad.mit.edu 37 11 48239282 48239282 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:48239282G>A ENST00000309562.2 + 1 939 c.921G>A c.(919-921)ggG>ggA p.G307G NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 AGAATCCAGGGAGGGAGTGAA 0.408000 10 14 0 0 0.000673444 0 0 KCNAB1 7881 broad.mit.edu 37 3 156192535 156192535 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:156192535C>T ENST00000302490.8 + 8 1401 c.530C>T c.(529-531)tCc>tTc p.S177F KCNAB1_ENST00000490337.1_Missense_Mutation_p.S195F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Intron|KCNAB1_ENST00000471742.1_Missense_Mutation_p.S184F NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 195 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TTGAAGGGCTCCCTCCAGAGG 0.428000 26 75 0 0 0.00127121 0 0 KIAA1324 57535 broad.mit.edu 37 1 109742720 109742720 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:109742720G>T ENST00000369939.3 + 20 2851 c.2668G>T c.(2668-2670)Ggt>Tgt p.G890C KIAA1324_ENST00000529753.1_Missense_Mutation_p.G803C|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 890 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GCTATGCTCTGGTGGCATTTC 0.512000 11 434 1.3612e-06 6.07795e-06 0.000308642 1 0 CPAMD8 27151 broad.mit.edu 37 19 17014391 17014391 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:17014391C>T ENST00000443236.1 - 34 4622 c.4591G>A c.(4591-4593)Gac>Aac p.D1531N NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1484 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 CAGCAGCCGTCCCCCTTGGCA 0.617000 32 56 0 0 0.00058488 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997320 19997320 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:19997320G>A ENST00000391403.2 - 1 558 c.455C>T c.(454-456)tCc>tTc p.S152F NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 152 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TGATTTGAGGGATTTTGACTC 0.353000 59 139 0 0 0.000781405 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995623 57995623 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:57995623G>A ENST00000316770.2 - 1 767 c.725C>T c.(724-726)gCc>gTc p.A242V NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) GGTGGAGAAGGCCCGGCGGCG 0.627000 18 20 0 0 0.000566183 0 0 BEND7 222389 broad.mit.edu 37 10 13481460 13481460 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:13481460C>T ENST00000341083.3 - 9 1415 c.1119G>A c.(1117-1119)ggG>ggA p.G373G BEND7_ENST00000396900.2_Silent_p.G424G|BEND7_ENST00000486542.1_5'UTR NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 424 BEN. protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 CCGCTGCACTCCCACCCGGCA 0.532000 17 38 0 0 0.000566183 0 0 FAT4 79633 broad.mit.edu 37 4 126412334 126412334 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:126412334G>A ENST00000394329.3 + 17 14370 c.14357G>A c.(14356-14358)gGa>gAa p.G4786E FAT4_ENST00000335110.5_Missense_Mutation_p.G3027E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4786 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 CCTCCAGTCGGACTTTCTATT 0.532000 7 45 0 0 0.00198382 0 0 UBE2K 3093 broad.mit.edu 37 4 39739052 39739052 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:39739052C>T ENST00000261427.5 + 2 360 c.76C>T c.(76-78)Caa>Taa p.Q26* UBE2K_ENST00000445950.2_Nonsense_Mutation_p.Q26*|UBE2K_ENST00000503368.1_Intron|UBE2K_ENST00000295963.6_Nonsense_Mutation_p.Q26*|UBE2K_ENST00000438068.2_3'UTR NM_001111112.1|NM_005339.4 NP_001104582.1|NP_005330.1 P61086 UBE2K_HUMAN ubiquitin-conjugating enzyme E2K 26 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity large_intestine(1)|lung(1)|ovary(2) 4 GAGCAAAAATCAAATTAAAGT 0.318000 12 62 0 0 0.00136819 0 0 COL5A3 50509 broad.mit.edu 37 19 10089891 10089891 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:10089891G>A ENST00000264828.3 - 39 2876 c.2791C>T c.(2791-2793)Cta>Tta p.L931L NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 931 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) CTTTCACCTAGAGGTCCCACT 0.602000 5 43 0 0 0.00198382 0 0 SP110 3431 broad.mit.edu 37 2 231035360 231035360 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:231035360G>A ENST00000258381.6 - 18 2082 c.2005C>T c.(2005-2007)Cgc>Tgc p.R669C SP110_ENST00000358662.4_Missense_Mutation_p.R645C NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 645 Bromo. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TTATGGTTGCGAAACATCAGG 0.443000 14 43 0 0 0.00074312 0 0 PUM2 23369 broad.mit.edu 37 2 20494229 20494229 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:20494229G>A ENST00000361078.2 - 8 1082 c.1060C>T c.(1060-1062)Cca>Tca p.P354S PUM2_ENST00000536417.1_Missense_Mutation_p.P298S|PUM2_ENST00000403432.1_Missense_Mutation_p.P354S|PUM2_ENST00000338086.5_Missense_Mutation_p.P354S|PUM2_ENST00000319801.5_Missense_Mutation_p.P354S Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 354 Ala-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGTTGGCTGGATACACCCCC 0.517000 22 116 0 0 0.00047179 0 0 IRAK1 3654 broad.mit.edu 37 X 153283471 153283471 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:153283471G>A ENST00000369980.3 - 7 1062 c.895C>T c.(895-897)Cgt>Tgt p.R299C IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Missense_Mutation_p.R325C|IRAK1_ENST00000393687.2_Missense_Mutation_p.R299C|IRAK1_ENST00000369974.2_Missense_Mutation_p.R299C|IRAK1_ENST00000429936.2_Missense_Mutation_p.R325C NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 299 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated 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|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGTGGAGACGGTCCTCCAGG 0.632000 20 30 0 0 0.000375601 0 0 TEK 7010 broad.mit.edu 37 9 27202876 27202876 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:27202876G>A ENST00000380036.4 + 13 2410 c.1968G>A c.(1966-1968)gtG>gtA p.V656V TEK_ENST00000519097.1_Silent_p.V509V|TEK_ENST00000406359.4_Silent_p.V613V NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 656 Fibronectin type-III 3. 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) CCTCAGCTGTGATTTCTTGGA 0.348000 42 70 0 0 0.000781405 0 0 CYYR1 116159 broad.mit.edu 37 21 27852626 27852626 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:27852626C>T ENST00000299340.4 - 3 642 c.299G>A c.(298-300)aGg>aAg p.R100K AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000400043.3_Missense_Mutation_p.R100K|AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 100 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GTGAGTCGTCCTGAGGATGCC 0.502000 11 33 0 0 0.00185496 0 0 ASS1 445 broad.mit.edu 37 9 133370318 133370318 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:133370318G>A ENST00000372394.1 + 14 1516 c.1035G>A c.(1033-1035)gtG>gtA p.V345V ASS1_ENST00000372393.3_Silent_p.V345V|ASS1_ENST00000352480.5_Silent_p.V345V P00966 ASSY_HUMAN argininosuccinate synthase 1 345 V -> G (in CTLN1). arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) AGGAGCGAGTGGAAGGGAAAG 0.587000 19 33 0 0 0.00152264 0 0 BCMO1 53630 broad.mit.edu 37 16 81303789 81303789 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:81303789G>A ENST00000258168.2 + 7 1330 c.869G>A c.(868-870)aGg>aAg p.R290K BCMO1_ENST00000425577.2_Missense_Mutation_p.R221K NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 290 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 ATCGACCAAAGGACCAGGCAG 0.532000 48 79 0 0 0.000781405 0 0 MFF 56947 broad.mit.edu 37 2 228197249 228197249 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:228197249G>T ENST00000353339.3 + 5 815 c.374G>T c.(373-375)aGa>aTa p.R125I MFF_ENST00000392059.1_Missense_Mutation_p.R125I|MFF_ENST00000337110.7_Missense_Mutation_p.R99I|MFF_ENST00000349901.7_Missense_Mutation_p.R99I|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409616.1_Missense_Mutation_p.R99I|MFF_ENST00000304593.9_Missense_Mutation_p.R99I|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000354503.6_Missense_Mutation_p.R99I|MFF_ENST00000409565.1_Missense_Mutation_p.R99I NM_001277061.1 NP_001263990.1 Q9GZY8 MFF_HUMAN mitochondrial fission factor 125 integral to membrane|mitochondrial outer membrane breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2) 21 CTGAGTGAAAGACCACTAGAT 0.398000 121 747 2.17066e-49 9.75959e-49 0.000781405 1 0 INPP5F 22876 broad.mit.edu 37 10 121565915 121565915 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:121565915C>T ENST00000361976.2 + 12 1529 c.1363C>T c.(1363-1365)Cgt>Tgt p.R455C NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 455 SAC. 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) AGGGATTTTTCGTGTTAATTG 0.393000 5 15 0 0 0.000602214 0 0 SRRM2 23524 broad.mit.edu 37 16 2808509 2808509 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:2808509C>A ENST00000301740.8 + 5 1103 c.554C>A c.(553-555)cCa>cAa p.P185Q NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 185 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TCACCAACCCCAaagcagaag 0.438000 8 210 0.000442599 0.00196049 0.000442599 1 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733161 56733161 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:56733161G>A ENST00000587340.1 - 7 1969 c.1274C>T c.(1273-1275)tCc>tTc p.S425F ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S308F|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S424F|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S425F|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S279F Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 425 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CTTCAAGTAGGACTTCTGGGT 0.527000 11 24 0 0 0.00185496 0 0 VPS13A 23230 broad.mit.edu 37 9 79890989 79890989 + Silent SNP C C T rs151122313 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:79890989C>T ENST00000360280.3 + 26 2936 c.2676C>T c.(2674-2676)atC>atT p.I892I VPS13A_ENST00000357409.5_Silent_p.I892I|VPS13A_ENST00000376634.4_Silent_p.I892I|VPS13A_ENST00000376636.3_Silent_p.I892I NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 892 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 AGGTTTTGATCGAGTTTTATC 0.323000 36 64 0 0 0.000781405 0 0 CALR3 125972 broad.mit.edu 37 19 16591507 16591507 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:16591507C>T ENST00000269881.3 - 8 991 c.929G>A c.(928-930)gGa>gAa p.G310E CTD-3222D19.2_ENST00000409035.1_3'UTR NM_145046.4 NP_659483.2 Q96L12 CALR3_HUMAN calreticulin 3 310 C-domain. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 AAAAATGGTTCCAGATCTCAC 0.348000 21 66 0 0 0.00121646 0 0 SLC8A1 6546 broad.mit.edu 37 2 40392089 40392089 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:40392089C>T ENST00000406785.1 - 5 2155 c.1966G>A c.(1966-1968)Gag>Aag p.E656K SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E687K|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E684K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E656K|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E692K|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E656K|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E692K|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E687K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E656K|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E656K P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 692 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCCTCTTCCTCTTTGCTGGTC 0.473000 26 79 0 0 0.00106085 0 0 MUC17 140453 broad.mit.edu 37 7 100685010 100685010 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:100685010C>T ENST00000306151.4 + 3 10377 c.10313C>T c.(10312-10314)tCa>tTa p.S3438L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3438 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) GAAGCCAGTTCATCTCCTACA 0.517000 32 122 0 0 0.000692331 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208462 140208462 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140208462C>T ENST00000529310.1 + 1 900 c.786C>T c.(784-786)atC>atT p.I262I PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.I262I|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.I262I(2) 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) CAACAGTTATCAGACTGAATG 0.413000 15 85 0 0 0.000219431 0 0 EMR3 84658 broad.mit.edu 37 19 14744082 14744082 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:14744082C>T ENST00000253673.5 - 12 1617 c.1517G>A c.(1516-1518)tGg>tAg p.W506* EMR3_ENST00000599900.1_Nonsense_Mutation_p.W291*|EMR3_ENST00000443157.2_Nonsense_Mutation_p.W380*|EMR3_ENST00000344373.4_Nonsense_Mutation_p.W454* NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 506 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 AAGGAAACTCCACATGAATCC 0.473000 7 22 0 0 0.000442599 0 0 DNAH1 25981 broad.mit.edu 37 3 52397079 52397079 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:52397079C>T ENST00000420323.2 + 32 5424 c.5163C>T c.(5161-5163)tcC>tcT p.S1721S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1721 AAA 1 (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) CCCTCTATTCCTTTGGCTTTA 0.532000 65 142 0 0 0.000781405 0 0 KCNB1 3745 broad.mit.edu 37 20 47990818 47990818 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:47990818C>T ENST00000371741.4 - 2 1445 c.1279G>A c.(1279-1281)Gag>Aag p.E427K NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 427 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ATTGCTTTCTCCTGTCTCTTC 0.502000 33 93 0 0 0.000692331 0 0 NEBL 10529 broad.mit.edu 37 10 21120484 21120484 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:21120484T>A ENST00000377122.4 - 15 1874 c.1478A>T c.(1477-1479)gAa>gTa p.E493V NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 493 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 CCCTTTAATTTCAGTCTCCAG 0.423000 15 34 0 0 0.000422831 0 0 CASP10 843 broad.mit.edu 37 2 202074227 202074227 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:202074227G>A ENST00000286186.6 + 9 1792 c.1357G>A c.(1357-1359)Gag>Aag p.E453K CASP10_ENST00000346817.5_Missense_Mutation_p.E410K|CASP10_ENST00000448480.1_Missense_Mutation_p.E410K|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000272879.5_Missense_Mutation_p.E453K|CASP10_ENST00000313728.7_Missense_Mutation_p.E386K NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 453 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 TCGGCATGTGGAGGAAGGCAG 0.468000 40 110 0 0 0.00222228 0 0 ETS1 2113 broad.mit.edu 37 11 128354818 128354818 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:128354818G>A ENST00000392668.3 - 7 830 c.762C>T c.(760-762)ctC>ctT p.L254L ETS1_ENST00000319397.5_Silent_p.L210L|ETS1_ENST00000345075.4_Silent_p.L210L|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.1_Silent_p.L210L|ETS1_ENST00000531611.1_Silent_p.L210L NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 210 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) GAGGGTCTCGGAGAATGACCG 0.527000 23 29 0 0 0.00127121 0 0 PLSCR2 57047 broad.mit.edu 37 3 146177721 146177721 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:146177721G>A ENST00000497985.1 - 4 629 c.190C>T c.(190-192)Cag>Tag p.Q64* PLSCR2_ENST00000336685.2_5'UTR NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 113 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 CTACCTGGCTGATTTTGAACA 0.527000 22 41 0 0 0.000375601 0 0 AMFR 267 broad.mit.edu 37 16 56423246 56423246 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:56423246G>A ENST00000290649.5 - 9 1337 c.1127C>T c.(1126-1128)cCa>cTa p.P376L NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 376 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 TCTGCATGTTGGACAGGAGGT 0.438000 21 39 0 0 0.00229938 0 0 LMNB2 84823 broad.mit.edu 37 19 2433975 2433975 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:2433975G>A ENST00000325327.3 - 8 1393 c.1331C>T c.(1330-1332)cCc>cTc p.P444L LMNB2_ENST00000582871.1_Missense_Mutation_p.P424L Q03252 LMNB2_HUMAN lamin B2 424 Tail. LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979). nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 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) GCTGCCCAAGGGCTCCTCCAC 0.726000 33 149 0 0 0.000491102 0 0 PNLIP 5406 broad.mit.edu 37 10 118320026 118320026 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:118320026G>A ENST00000369221.2 + 11 1187 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 387 PLAT. lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TAAGCAGTATGAAATTTTCAA 0.383000 10 31 0 0 0.000442599 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359453 70359453 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:70359453G>A ENST00000305107.6 - 2 874 c.828C>T c.(826-828)ttC>ttT p.F276F UGT2B4_ENST00000381096.3_Silent_p.F140F|UGT2B4_ENST00000512583.1_Silent_p.F276F|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 276 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 GTCCTCCAACGAACTCAACAT 0.413000 13 49 0 0 0.000308642 0 0 DSG3 1830 broad.mit.edu 37 18 29039878 29039878 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:29039878C>T ENST00000257189.4 + 6 671 c.588C>T c.(586-588)ttC>ttT p.F196F NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 196 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AAATTGCCTTCAAAATTGTCT 0.428000 13 25 0 0 0.00185496 0 0 HAVCR2 84868 broad.mit.edu 37 5 156533695 156533695 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:156533695G>T ENST00000307851.4 - 2 1067 c.337C>A c.(337-339)Caa>Aaa p.Q113K HAVCR2_ENST00000522593.1_Missense_Mutation_p.Q113K|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 113 Ig-like V-type. integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTGGGATTTGGATCCGGCAG 0.428000 11 395 0.00136819 0.00603289 0.00136819 1 0 OR2G6 391211 broad.mit.edu 37 1 248685667 248685667 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:248685667C>T ENST00000343414.4 + 1 752 c.720C>T c.(718-720)acC>acT p.T240T NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 240 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) CCTTTGGGACCTGTTCGTCTC 0.458000 13 78 0 0 0.00185496 0 0 COL6A6 131873 broad.mit.edu 37 3 130286904 130286904 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:130286904G>A ENST00000358511.6 + 5 1888 c.1857G>A c.(1855-1857)atG>atA p.M619I COL6A6_ENST00000453409.2_Missense_Mutation_p.M619I NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 619 Nonhelical region. 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 GCAAAGAGATGAAAGCTGACA 0.358000 19 51 0 0 0.00121646 0 0 SYNE1 23345 broad.mit.edu 37 6 152631852 152631852 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:152631852G>A ENST00000367255.5 - 88 17468 c.16867C>T c.(16867-16869)Cgt>Tgt p.R5623C SYNE1_ENST00000265368.4_Missense_Mutation_p.R5623C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5552C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R147C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5235C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5552C NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5623 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 p.R5623C(2)|p.R5552C(1) 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) TTCTGCAAACGAATTTTGATC 0.393000 HNSCC(10;0.0054) 17 27 0 0 0.00229938 0 0 NUMB 8650 broad.mit.edu 37 14 73753887 73753887 + Missense_Mutation SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:73753887G>C ENST00000556772.1 - 3 2441 c.154C>G c.(154-156)Cgt>Ggt p.R52G NUMB_ENST00000560335.1_Missense_Mutation_p.R196G|NUMB_ENST00000559312.1_Missense_Mutation_p.R196G|NUMB_ENST00000557597.1_Missense_Mutation_p.R185G|NUMB_ENST00000535282.1_Missense_Mutation_p.R185G|NUMB_ENST00000454166.4_Missense_Mutation_p.R196G|NUMB_ENST00000555394.1_Missense_Mutation_p.R196G|NUMB_ENST00000555238.1_Missense_Mutation_p.R196G|NUMB_ENST00000555738.2_Missense_Mutation_p.R185G|NUMB_ENST00000554521.2_Missense_Mutation_p.R185G|NUMB_ENST00000554546.1_Missense_Mutation_p.R185G|NUMB_ENST00000356296.4_Missense_Mutation_p.R196G|NUMB_ENST00000355058.3_Missense_Mutation_p.R196G|NUMB_ENST00000544991.3_Missense_Mutation_p.R196G|NUMB_ENST00000359560.3_Missense_Mutation_p.R185G P49757 NUMB_HUMAN numb homolog (Drosophila) 196 PID. axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) GTTGTGACACGGAATGATCCT 0.448000 13 86 0 0 0.000422831 0 0 BCAS3 54828 broad.mit.edu 37 17 58824639 58824639 + Splice_Site SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:58824639T>A ENST00000589222.1 + 6 470 c.403_splice c.e6+1 p.F134_splice BCAS3_ENST00000390652.5_Splice_Site_p.F134_splice|BCAS3_ENST00000408905.3_Splice_Site_p.F134_splice|BCAS3_ENST00000407086.3_Splice_Site_p.F134_splice|BCAS3_ENST00000588462.1_Splice_Site_p.F134_splice Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 134 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) CTCCACAGTTTGGTGAGTGTA 0.423000 77 111 0 0 0.000781405 0 0 BNC1 646 broad.mit.edu 37 15 83932016 83932016 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:83932016C>T ENST00000345382.2 - 4 2072 c.1987G>A c.(1987-1989)Gaa>Aaa p.E663K RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E656K NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 663 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 ACTTGGGGTTCCATCCCAGGT 0.532000 6 31 0 0 0.00116845 0 0 OR1N2 138882 broad.mit.edu 37 9 125315566 125315566 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:125315566G>A ENST00000373688.2 + 1 176 c.118G>A c.(118-120)Gag>Aag p.E40K NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 40 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 GTGGCCAGAGGAGCAGCCTCT 0.537000 14 18 0 0 0.00185496 0 0 MTF1 4520 broad.mit.edu 37 1 38288311 38288311 + Missense_Mutation SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:38288311A>C ENST00000373036.4 - 9 1389 c.1249T>G c.(1249-1251)Tta>Gta p.L417V NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 417 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GGAAGAGATAAAGATGCTGAA 0.512000 22 120 0 0 0.000720815 0 0 MTTP 4547 broad.mit.edu 37 4 100534201 100534201 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:100534201C>T ENST00000457717.1 + 16 2377 c.2121C>T c.(2119-2121)ttC>ttT p.F707F MTTP_ENST00000511045.1_Silent_p.F734F|MTTP_ENST00000265517.5_Silent_p.F707F|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 707 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TCACCTTTTTCAACGGATACA 0.473000 11 51 0 0 0.00136819 0 0 NFRKB 4798 broad.mit.edu 37 11 129752435 129752435 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:129752435C>T ENST00000446488.3 - 9 1096 c.993G>A c.(991-993)gaG>gaA p.E331E NFRKB_ENST00000304521.5_Silent_p.E331E|NFRKB_ENST00000524794.1_Silent_p.E356E|NFRKB_ENST00000524746.1_Silent_p.E331E NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 331 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) CGGCCAGGTCCTCTGCCTCTG 0.468000 40 56 0 0 0.000953801 0 0 PNPLA2 57104 broad.mit.edu 37 11 823736 823736 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:823736C>T ENST00000336615.4 + 7 1002 c.800C>T c.(799-801)gCc>gTc p.A267V AP006621.8_ENST00000532946.1_RNA|AP006621.8_ENST00000528982.1_RNA NM_020376.3 NP_065109.1 Q96AD5 PLPL2_HUMAN patatin-like phospholipase domain containing 2 267 negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process integral to membrane|lipid particle|plasma membrane triglyceride lipase activity breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1) 9 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTGCCCCCCGCCCGCCCCCAC 0.687000 6 18 0 0 0.000157383 0 0 DMXL2 23312 broad.mit.edu 37 15 51773152 51773152 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:51773152G>A ENST00000251076.5 - 24 6438 c.6151C>T c.(6151-6153)Ctt>Ttt p.L2051F DMXL2_ENST00000449909.3_Missense_Mutation_p.L1415F|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2051F|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2051 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) TCAGTCATAAGGATCTTTAAA 0.363000 13 96 0 0 0.00185496 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247184 142247184 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:142247184C>T ENST00000390361.3 - 0 321 AGAGACGGATCCCTCAGGCCT 0.572000 16 30 0 0 0.000958276 0 0 MYH8 4626 broad.mit.edu 37 17 10319000 10319000 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:10319000G>A ENST00000403437.2 - 6 631 c.537C>T c.(535-537)atC>atT p.I179I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 179 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 TCACATACGTGATCAGGATGG 0.343000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 9 18 0 0 0.000978159 0 0 CHD5 26038 broad.mit.edu 37 1 6195349 6195349 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:6195349G>A ENST00000262450.3 - 18 2910 c.2811C>T c.(2809-2811)ttC>ttT p.F937F CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 937 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GCATGTTCTTGAACACGTCAG 0.597000 38 108 0 0 0.000953801 0 0 TACR1 6869 broad.mit.edu 37 2 75425696 75425696 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:75425696G>A ENST00000305249.4 - 1 1130 c.365C>T c.(364-366)tCc>tTc p.S122F TACR1_ENST00000409848.3_Missense_Mutation_p.S122F NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 122 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) AGCCGTCATGGAGTAGATACT 0.502000 28 75 0 0 0.001512 0 0 COL15A1 1306 broad.mit.edu 37 9 101749577 101749577 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:101749577G>A ENST00000375001.3 + 4 1073 c.648_splice c.e4-1 p.G217_splice NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 217 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding p.G217D(1) 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) TTTCCCCAGGGCTCCCTCCAG 0.577000 69 113 0 0 0.000781405 0 0 TP53 7157 broad.mit.edu 37 17 7576897 7576897 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:7576897G>A ENST00000420246.2 - 9 1081 c.949C>T c.(949-951)Cag>Tag p.Q317* TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 317 Interaction with CARM1.|Interaction with HIPK1 (By similarity). Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTTTGGCTGGGGAGAGGAG 0.473000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 42 49 0 0 0.000781405 0 0 PAPLN 89932 broad.mit.edu 37 14 73720562 73720562 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:73720562G>A ENST00000427855.1 + 12 1297 c.1195G>A c.(1195-1197)Gag>Aag p.E399K PAPLN_ENST00000554301.1_Missense_Mutation_p.E399K|PAPLN_ENST00000555445.1_Missense_Mutation_p.E399K|PAPLN_ENST00000381166.3_Missense_Mutation_p.E399K|PAPLN_ENST00000340738.5_Missense_Mutation_p.E372K O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 399 TSP type-1 3. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CGGCATCCAGGAGGCCGTGGA 0.692000 13 45 0 0 0.000219431 0 0 MUC13 56667 broad.mit.edu 37 3 124642388 124642388 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:124642388G>A ENST00000311075.3 - 3 658 c.620C>T c.(619-621)tCt>tTt p.S207F NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 207 EGF-like 1. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 CTTACATGTAGAAGAGTTGTA 0.398000 12 49 0 0 0.000308642 0 0 PLIN5 440503 broad.mit.edu 37 19 4523691 4523691 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:4523691G>A ENST00000381848.3 - 8 1321 c.1241C>T c.(1240-1242)gCc>gTc p.A414V NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 414 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 TCTCTGCTGGGCCGGCCAGTC 0.701000 45 124 0 0 0.000781405 0 0 TMEM67 91147 broad.mit.edu 37 8 94792886 94792886 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:94792886C>T ENST00000453321.3 + 8 838 c.780C>T c.(778-780)taC>taT p.Y260Y TMEM67_ENST00000409623.3_Silent_p.Y179Y|TMEM67_ENST00000425545.2_3'UTR NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 260 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) TGAATTCTTACGACTTTGCCA 0.348000 30 175 0 0 0.00178596 0 0 CYTH1 9267 broad.mit.edu 37 17 76694376 76694376 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:76694376G>A ENST00000589297.1 - 9 1301 c.609C>T c.(607-609)gaC>gaT p.D203D CYTH1_ENST00000361101.4_Silent_p.D262D|CYTH1_ENST00000591455.1_Silent_p.D262D|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Silent_p.D203D|CYTH1_ENST00000446868.3_Silent_p.D262D Q15438 CYH1_HUMAN cytohesin 1 262 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 AGCCTTCTCGGTCTGGATTGA 0.473000 66 101 0 0 0.000781405 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460166 107460166 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:107460166G>A ENST00000409382.3 - 2 878 c.268C>T c.(268-270)Cat>Tat p.H90Y ST6GAL2_ENST00000409087.3_Missense_Mutation_p.H90Y|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.H90Y NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 90 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.H90Y(2) 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 GGCCCCGCATGAAAGGAACCG 0.627000 26 55 0 0 0.001512 0 0 SLC22A14 9389 broad.mit.edu 37 3 38357167 38357167 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:38357167C>T ENST00000273173.4 + 8 1588 c.1497C>T c.(1495-1497)ttC>ttT p.F499F SLC22A14_ENST00000448498.1_Silent_p.F499F NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 499 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) CTGTGTTCTTCCTCTACACCG 0.577000 42 133 0 0 0.000781405 0 0 CSMD1 64478 broad.mit.edu 37 8 2910145 2910145 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:2910145G>A ENST00000602557.1 - 51 8057 c.7502C>T c.(7501-7503)tCc>tTc p.S2501F CSMD1_ENST00000542608.1_Missense_Mutation_p.S2500F|CSMD1_ENST00000520002.1_Missense_Mutation_p.S2501F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2501F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S2501F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2500F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2501 Sushi 15. 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) GTTTCCTGGGGATTCTGGGAT 0.403000 12 10 0 0 0.00185496 0 0 CSF2RB 1439 broad.mit.edu 37 22 37322095 37322095 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:37322095C>T ENST00000262825.5 + 4 484 c.267C>T c.(265-267)ccC>ccT p.P89P CSF2RB_ENST00000403662.3_Silent_p.P89P|CSF2RB_ENST00000406230.1_Silent_p.P89P|CSF2RB_ENST00000536485.1_Silent_p.P30P NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 89 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) GCCCCCATCCCCGCTGCGTGC 0.607000 19 43 0 0 0.00152264 0 0 UNC13C 440279 broad.mit.edu 37 15 54685300 54685300 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:54685300G>A ENST00000545554.1 + 17 4768 c.4768G>A c.(4768-4770)Gat>Aat p.D1590N UNC13C_ENST00000260323.11_Missense_Mutation_p.D1590N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1588N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1590 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) CAAGAATTTGGATTTTTGGCC 0.393000 4 30 0 0 0.00116845 0 0 OR8H1 219469 broad.mit.edu 37 11 56058353 56058353 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:56058353G>A ENST00000313022.2 - 1 213 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) AGTGAGTAAGGAAAAAATACA 0.403000 69 133 0 0 0.000781405 0 0 TTC21B 79809 broad.mit.edu 37 2 166740445 166740445 + Missense_Mutation SNP C C G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:166740445C>G ENST00000243344.7 - 26 3680 c.3543G>C c.(3541-3543)aaG>aaC p.K1181N TTC21B_ENST00000536175.1_Missense_Mutation_p.K119N NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 1181 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 TCGCAATACGCTTCAGCTGGT 0.403000 26 79 0 0 0.00127121 0 0 SZT2 23334 broad.mit.edu 37 1 43896733 43896733 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:43896733C>T ENST00000562955.1 + 32 4717 c.4717C>T c.(4717-4719)Ccc>Tcc p.P1573S SZT2_ENST00000372442.1_Missense_Mutation_p.P731S NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1630 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 AGTGGAGCTCCCCACGGCCTC 0.602000 12 75 0 0 0.00136819 0 0 HYDIN 54768 broad.mit.edu 37 16 70843758 70843758 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:70843758G>A ENST00000393567.2 - 85 14961 c.14811C>T c.(14809-14811)gtC>gtT p.V4937V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4937 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) TGCTGCCAAGGACAGTCTGGA 0.498000 102 204 0 0 0.000781405 0 0 OR10R2 343406 broad.mit.edu 37 1 158449955 158449955 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:158449955C>T ENST00000368152.1 + 1 288 c.288C>T c.(286-288)gtC>gtT p.V96V RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) ACACCTTTGTCATTCTACCCA 0.428000 26 118 0 0 0.000878237 0 0 IGHV3-48 28424 broad.mit.edu 37 14 106993982 106993982 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:106993982C>T ENST00000390624.2 - 0 261 CCAGCCCCTTCCCTGGAGCCT 0.537000 23 89 0 0 0.000375601 0 0 NBEA 26960 broad.mit.edu 37 13 36026256 36026256 + Missense_Mutation SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:36026256A>C ENST00000540320.1 + 40 6866 c.6332A>C c.(6331-6333)aAg>aCg p.K2111T NBEA_ENST00000400445.3_Missense_Mutation_p.K2111T|NBEA_ENST00000310336.4_Missense_Mutation_p.K2111T|NBEA_ENST00000379939.2_Missense_Mutation_p.K2108T Q8NFP9 NBEA_HUMAN neurobeachin 2111 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) GTAAAGTCAAAGAAAACATTC 0.338000 7 32 0 0 0.000274275 0 0 CYP4F3 4051 broad.mit.edu 37 19 15763658 15763658 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:15763658C>T ENST00000221307.7 + 9 1059 c.1011C>T c.(1009-1011)ctC>ctT p.L337L CYP4F3_ENST00000585846.1_Silent_p.L337L|CYP4F3_ENST00000591058.1_Silent_p.L337L|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Silent_p.L337L NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 337 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CCAGTGGTCTCTCCTGGGTCC 0.597000 OREG0007254 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP4F3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 13 56 0 0 0.00185496 0 0 SPTA1 6708 broad.mit.edu 37 1 158615343 158615343 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:158615343G>A ENST00000368148.3 - 28 4118 c.3938C>T c.(3937-3939)tCa>tTa p.S1313L SPTA1_ENST00000368147.3_Missense_Mutation_p.S1313L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1313 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) CTCCTGTGATGATACCATGCC 0.448000 24 112 0 0 0.00178596 0 0 CD207 50489 broad.mit.edu 37 2 71060879 71060879 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:71060879G>A ENST00000410009.3 - 3 508 c.463C>T c.(463-465)Cca>Tca p.P155S NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 155 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 TTTAACTCTGGGATTTGGGCA 0.438000 11 62 0 0 0.000978159 0 0 MKRN3 7681 broad.mit.edu 37 15 23811327 23811327 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:23811327C>T ENST00000314520.3 + 1 874 c.398C>T c.(397-399)tCg>tTg p.S133L MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 133 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGTGGCGTTTCGCCGCCTGGG 0.627000 17 70 0 0 0.000566183 0 0 ITIH5 80760 broad.mit.edu 37 10 7618721 7618721 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:7618721C>T ENST00000256861.6 - 10 1751 c.1673G>A c.(1672-1674)gGa>gAa p.G558E ITIH5_ENST00000298441.6_Missense_Mutation_p.G344E|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.G558E|ITIH5_ENST00000446830.2_Missense_Mutation_p.G340E|ITIH5_ENST00000397146.2_Missense_Mutation_p.G558E NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 558 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CCTGGGGCTTCCTGTGACATC 0.582000 10 38 0 0 0.000673444 0 0 TTN 7273 broad.mit.edu 37 2 179615609 179615609 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179615609C>T ENST00000360870.5 - 46 11740 c.11518G>A c.(11518-11520)Gaa>Aaa p.E3840K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9675 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) ATAATTTCTTCCAGCTGTCCT 0.373000 11 65 0 0 0.00185496 0 0 TRIM60 166655 broad.mit.edu 37 4 165962219 165962219 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:165962219G>A ENST00000512596.1 + 3 1211 c.995G>A c.(994-996)aGa>aAa p.R332K TRIM60_ENST00000341062.5_Missense_Mutation_p.R332K|TRIM60_ENST00000508504.1_Missense_Mutation_p.R332K NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 332 B30.2/SPRY. 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) GACCCAAGGAGATTTTATGTC 0.418000 25 114 0 0 0.000720815 0 0 PER1 5187 broad.mit.edu 37 17 8054012 8054012 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:8054012G>A ENST00000317276.4 - 2 250 c.13C>T c.(13-15)Cta>Tta p.L5L PER1_ENST00000354903.5_Intron|PER1_ENST00000581082.1_Silent_p.L5L NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 5 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GCCCCTTCTAGGGGGCCACTC 0.667000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 7 17 0 0 0.000157383 0 0 ZNF69 7620 broad.mit.edu 37 19 12014453 12014453 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:12014453T>C ENST00000429654.2 + 2 269 c.129T>C c.(127-129)atT>atC p.I43I ZNF69_ENST00000340180.5_Silent_p.I29I Q9UC07 ZNF69_HUMAN zinc finger protein 69 43 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(1)|skin(2) 4 Lung(535;0.011) TGCTGGATATTTCCCAGAGGA 0.478000 18 89 0 0 0.00121646 0 0 TEX11 56159 broad.mit.edu 37 X 69773205 69773205 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:69773205C>T ENST00000395889.2 - 28 2550 c.2395G>A c.(2395-2397)Gct>Act p.A799T TEX11_ENST00000374333.2_Missense_Mutation_p.A784T|TEX11_ENST00000344304.3_Missense_Mutation_p.A799T|TEX11_ENST00000374320.2_Missense_Mutation_p.A474T NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 799 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) AGCAATAAAGCCTTTTTCAAG 0.348000 4 9 0 0 0.00024832 0 0 LRRN1 57633 broad.mit.edu 37 3 3887687 3887687 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:3887687A>T ENST00000319331.3 + 2 2123 c.1362A>T c.(1360-1362)gaA>gaT p.E454D SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 454 Ig-like C2-type. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CTGAGCCAGAACCTGAAATTT 0.443000 24 46 0 0 0.000375601 0 0 TTN 7273 broad.mit.edu 37 2 179612131 179612131 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179612131G>A ENST00000360870.5 - 46 15218 c.14996C>T c.(14995-14997)tCt>tTt p.S4999F TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1108 Ig-like 30. 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) GGACTTTGGAGATTCAAAATA 0.363000 10 33 0 0 0.00185496 0 0 SUCNR1 56670 broad.mit.edu 37 3 151598689 151598689 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:151598689C>T ENST00000362032.4 + 3 463 c.358C>T c.(358-360)Cga>Tga p.R120* RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 120 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) CAGCATAGATCGATACTTGAT 0.383000 17 37 0 0 0.000566183 0 0 PAQR7 164091 broad.mit.edu 37 1 26189515 26189515 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:26189515C>T ENST00000374296.3 - 2 1482 c.816G>A c.(814-816)ggG>ggA p.G272G RP1-125I3.2_ENST00000455431.1_RNA NM_178422.5 NP_848509.1 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 272 G -> R (in dbSNP:rs6689014). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) GGTGGCCCTGCCCGAAGACAT 0.592000 23 60 0 0 0.00229938 0 0 FOLR1 2348 broad.mit.edu 37 11 71906446 71906446 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:71906446C>T ENST00000393679.1 + 3 736 c.300C>T c.(298-300)ttC>ttT p.F100F FOLR1_ENST00000393681.2_Silent_p.F100F|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Silent_p.F100F|FOLR1_ENST00000393676.3_Silent_p.F100F P15328 FOLR1_HUMAN folate receptor 1 (adult) 100 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 AACGGCATTTCATCCAGGACA 0.547000 59 104 0 0 0.000781405 0 0 LPHN2 23266 broad.mit.edu 37 1 82418681 82418681 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:82418681G>A ENST00000370728.1 + 12 2438 c.1793G>A c.(1792-1794)cGa>cAa p.R598Q LPHN2_ENST00000271029.4_Missense_Mutation_p.R598Q|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.R598Q|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.R598Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R598Q|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.R598Q|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.R598Q O95490 LPHN2_HUMAN latrophilin 2 598 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) CTCCAAAAACGAGAGAAGACA 0.403000 14 43 0 0 0.000308642 0 0 RET 5979 broad.mit.edu 37 10 43613844 43613844 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:43613844C>T ENST00000355710.3 + 13 2540 c.2308C>T c.(2308-2310)Cga>Tga p.R770* RET_ENST00000340058.5_Nonsense_Mutation_p.R770* NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 770 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.R770*(1) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GAGTGAGCTGCGAGACCTGCT 0.562000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 7 22 0 0 0.000157383 0 0 SLC5A1 6523 broad.mit.edu 37 22 32445953 32445953 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:32445953G>A ENST00000266088.4 + 2 409 c.159G>A c.(157-159)ggG>ggA p.G53G NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 53 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 CCAATCGTGGGACTGTTGGAG 0.468000 96 226 0 0 0.000781405 0 0 FFAR2 2867 broad.mit.edu 37 19 35941189 35941189 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:35941189C>T ENST00000599180.1 + 2 653 c.573C>T c.(571-573)ccC>ccT p.P191P FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.P191P O15552 FFAR2_HUMAN free fatty acid receptor 2 191 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCTTCATCCCCATGGCAGTCA 0.607000 47 94 0 0 0.000781405 0 0 SCAMP2 10066 broad.mit.edu 37 15 75143753 75143753 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:75143753G>A ENST00000268099.9 - 5 522 c.413C>T c.(412-414)tCc>tTc p.S138F NM_005697.3 NP_005688.2 O15127 SCAM2_HUMAN secretory carrier membrane protein 2 138 post-Golgi vesicle-mediated transport|protein transport integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 9 GATCTCTGTGGAGAAATCCTG 0.552000 10 63 0 0 0.000978159 0 0 SCN10A 6336 broad.mit.edu 37 3 38797282 38797282 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:38797282C>T ENST00000449082.2 - 10 1457 c.1458G>A c.(1456-1458)agG>agA p.R486R NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 486 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) ctcttaccatcctgcgctGGT 0.498000 40 116 0 0 0.000509022 0 0 IQCA1 79781 broad.mit.edu 37 2 237300918 237300918 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:237300918C>T ENST00000409907.3 - 10 1560 c.1286G>A c.(1285-1287)cGa>cAa p.R429Q AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000431676.2_Missense_Mutation_p.R388Q|IQCA1_ENST00000309507.5_Missense_Mutation_p.R425Q Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 429 Lys-rich. ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TAATTCTTTTCGTTTCTCCTC 0.368000 6 19 0 0 0.00198382 0 0 OGFOD2 79676 broad.mit.edu 37 12 123463717 123463717 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:123463717C>T ENST00000397389.2 + 8 1436 c.697C>T c.(697-699)Cgg>Tgg p.R233W OGFOD2_ENST00000538755.1_Missense_Mutation_p.R129W|OGFOD2_ENST00000545317.1_Missense_Mutation_p.R129W|RP11-197N18.2_ENST00000540866.2_RNA|ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000454694.2_Missense_Mutation_p.R129W|OGFOD2_ENST00000538628.1_Missense_Mutation_p.R129W|OGFOD2_ENST00000545612.1_Missense_Mutation_p.R129W|OGFOD2_ENST00000536150.1_Missense_Mutation_p.R129W|OGFOD2_ENST00000228922.7_Missense_Mutation_p.R293W NM_024623.1 NP_078899.1 Q6N063 OGFD2_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 2 293 Fe2OG dioxygenase. 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 breast(1)|endometrium(2)|lung(4)|pancreas(1) 8 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107) Vitamin C(DB00126) GCATGGAGCCCGGCCCTTGGG 0.682000 21 32 0 0 0.00152264 0 0 FGF7 2252 broad.mit.edu 37 15 49776615 49776615 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:49776615T>C ENST00000267843.4 + 4 1110 c.499T>C c.(499-501)Tta>Cta p.L167L FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 167 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) GTTTGTTGCCTTAAATCAAAA 0.353000 7 19 0 0 0.00198382 0 0 TRIM6 117854 broad.mit.edu 37 11 5626765 5626765 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:5626765C>T ENST00000380097.3 + 4 1044 c.802C>T c.(802-804)Cga>Tga p.R268* TRIM6_ENST00000380107.1_Nonsense_Mutation_p.R214*|TRIM6_ENST00000507320.1_Nonsense_Mutation_p.R65*|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Nonsense_Mutation_p.R268*|TRIM6_ENST00000445329.1_Nonsense_Mutation_p.R65*|TRIM6_ENST00000515022.1_Nonsense_Mutation_p.R65*|TRIM6_ENST00000278302.5_Nonsense_Mutation_p.R240*|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Nonsense_Mutation_p.R65* NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) TCTGGAGCGTCGATGTCAGGG 0.507000 OREG0003723 type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 11 22 0 0 0.000978159 0 0 SLC26A7 115111 broad.mit.edu 37 8 92365218 92365218 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:92365218C>T ENST00000276609.3 + 11 1547 c.1308C>T c.(1306-1308)atC>atT p.I436I SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Silent_p.I436I|SLC26A7_ENST00000309536.2_Silent_p.I436I NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 436 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TGGATAAAATCGATTGGGTAA 0.308000 9 69 0 0 0.000274275 0 0 EIF4G1 1981 broad.mit.edu 37 3 184042702 184042702 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:184042702G>A ENST00000342981.4 + 17 3073 c.2659G>A c.(2659-2661)Gag>Aag p.E887K EIF4G1_ENST00000411531.1_Missense_Mutation_p.E847K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E722K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E800K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E691K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E886K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E690K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E893K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E893K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E799K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E723K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E846K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E886K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E893K NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 886 eIF3/EIF4A-binding. 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) AGAGCTGGAAGAGGCTCGGGA 0.488000 51 103 0 0 0.000781405 0 0 ABL2 27 broad.mit.edu 37 1 179079431 179079431 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:179079431G>A ENST00000502732.1 - 11 2014 c.1811C>T c.(1810-1812)tCc>tTc p.S604F ABL2_ENST00000511413.1_Missense_Mutation_p.S604F|ABL2_ENST00000504405.1_Missense_Mutation_p.S568F|ABL2_ENST00000512653.1_Missense_Mutation_p.S589F|ABL2_ENST00000507173.1_Missense_Mutation_p.S583F|ABL2_ENST00000344730.3_Missense_Mutation_p.S589F|ABL2_ENST00000408940.3_Missense_Mutation_p.S568F|ABL2_ENST00000367623.4_Missense_Mutation_p.S583F NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 604 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TGCTAAACTGGAAGCAGAATT 0.453000 T ETV6 AML 121 238 0 0 0.000781405 0 0 EPHA3 2042 broad.mit.edu 37 3 89259013 89259013 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:89259013G>A ENST00000336596.2 + 3 382 c.157G>A c.(157-159)Gaa>Aaa p.E53K EPHA3_ENST00000452448.2_Missense_Mutation_p.E53K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E53K NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 53 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TCTTCAGTGGGAAGAGATCAG 0.403000 TSP Lung(6;0.00050) 6 28 0 0 0.000157383 0 0 TKTL2 84076 broad.mit.edu 37 4 164394129 164394129 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:164394129G>A ENST00000280605.3 - 1 918 c.758C>T c.(757-759)cCa>cTa p.P253L NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 253 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CTCAATATTTGGAATACCCCG 0.433000 27 176 0 0 0.00127121 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215780 130215780 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:130215780G>A ENST00000276211.5 + 2 486 c.141G>A c.(139-141)acG>acA p.T47T ARHGAP36_ENST00000370922.1_Silent_p.T35T NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 47 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 ACCGCAGGACGAAGATGGTAT 0.537000 38 81 0 0 0.000509022 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20370036 20370036 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:20370036G>A ENST00000593655.1 - 0 199 AGTTTTGAAGGATGATGCGGA 0.423000 14 28 0 0 0.00185496 0 0 NUP210L 91181 broad.mit.edu 37 1 153999992 153999992 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:153999992G>A ENST00000368559.3 - 29 4008 c.3937C>T c.(3937-3939)Cat>Tat p.H1313Y NUP210L_ENST00000271854.3_Missense_Mutation_p.H1313Y|NUP210L_ENST00000368553.1_Missense_Mutation_p.H246Y NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1313 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CTGTTGGTATGGAGTTTGAGC 0.373000 28 74 0 0 0.001512 0 0 UNC5C 8633 broad.mit.edu 37 4 96137323 96137323 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:96137323C>T ENST00000453304.1 - 10 2033 c.1685G>A c.(1684-1686)gGg>gAg p.G562E UNC5C_ENST00000506749.1_Missense_Mutation_p.G581E NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 562 ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GTAGACTCTCCCTTGGGGAAT 0.433000 8 32 0 0 0.000978159 0 0 TRBV2 28620 broad.mit.edu 37 7 142001083 142001083 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:142001083G>A ENST00000455382.2 + 0 249 ACAAATCTTGGGGCAGAAAGT 0.418000 10 18 0 0 0.000673444 0 0 PPAPDC2 403313 broad.mit.edu 37 9 4662875 4662875 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:4662875T>C ENST00000381883.2 + 1 578 c.500T>C c.(499-501)aTg>aCg p.M167T SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000454239.2_Intron NM_203453.3 NP_982278.3 Q8IY26 PPAC2_HUMAN phosphatidic acid phosphatase type 2 domain containing 2 167 integral to membrane hydrolase activity endometrium(1)|large_intestine(2)|lung(1) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.026) GAGGTGCTGATGAACCTGCTC 0.647000 15 45 0 0 0.000308642 0 0 PIWIL2 55124 broad.mit.edu 37 8 22146078 22146078 + Silent SNP G G A rs147665310 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:22146078G>A ENST00000356766.6 + 8 1033 c.885G>A c.(883-885)agG>agA p.R295R PIWIL2_ENST00000454009.2_Silent_p.R295R|PIWIL2_ENST00000521356.1_Silent_p.R295R NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 295 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding p.R295R(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) AAAGTCAAAGGAAAACAGACA 0.373000 13 49 0 0 0.000308642 0 0 SND1 27044 broad.mit.edu 37 7 127343259 127343259 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:127343259C>T ENST00000354725.3 + 7 916 c.722C>T c.(721-723)cCa>cTa p.P241L NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 241 TNase-like 2. 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 AGTGAAACTCCAGAGCCTTTT 0.488000 30 61 0 0 0.00058488 0 0 RAPH1 65059 broad.mit.edu 37 2 204359988 204359988 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:204359988G>A ENST00000319170.5 - 2 388 c.89C>T c.(88-90)gCc>gTc p.A30V RAPH1_ENST00000423104.1_Missense_Mutation_p.A30V|RAPH1_ENST00000308091.4_Missense_Mutation_p.A30V|RAPH1_ENST00000439222.1_Missense_Mutation_p.A30V|RAPH1_ENST00000374488.2_Missense_Mutation_p.A30V|RAPH1_ENST00000453034.1_Missense_Mutation_p.A30V|RAPH1_ENST00000419464.1_Missense_Mutation_p.A30V|RAPH1_ENST00000374489.2_Missense_Mutation_p.A30V|RAPH1_ENST00000374493.3_Missense_Mutation_p.A30V|RAPH1_ENST00000457812.1_Missense_Mutation_p.A30V|RAPH1_ENST00000418114.1_Missense_Mutation_p.A30V NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 30 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCCAAGCCAGGCTCCAAACAT 0.413000 47 133 0 0 0.000781405 0 0 CAMK2B 816 broad.mit.edu 37 7 44281908 44281908 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:44281908G>A ENST00000395749.2 - 10 804 c.728C>T c.(727-729)cCt>cTt p.P243L CAMK2B_ENST00000258682.6_Missense_Mutation_p.P243L|CAMK2B_ENST00000502837.2_Missense_Mutation_p.P114L|CAMK2B_ENST00000353625.4_Missense_Mutation_p.P243L|CAMK2B_ENST00000358707.3_Missense_Mutation_p.P243L|CAMK2B_ENST00000346990.4_Missense_Mutation_p.P243L|CAMK2B_ENST00000347193.4_Missense_Mutation_p.P243L|CAMK2B_ENST00000350811.3_Missense_Mutation_p.P243L|CAMK2B_ENST00000440254.2_Missense_Mutation_p.P243L|CAMK2B_ENST00000395747.2_Missense_Mutation_p.P243L|CAMK2B_ENST00000457475.1_Missense_Mutation_p.P243L NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 243 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 TTTGGCTTCAGGAGTGACGGT 0.612000 32 77 0 0 0.000953801 0 0 KCNK18 338567 broad.mit.edu 37 10 118969466 118969466 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:118969466G>A ENST00000334549.1 + 3 811 c.811G>A c.(811-813)Gaa>Aaa p.E271K NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 271 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CAACCTGGATGAAGTTGGACA 0.532000 19 56 0 0 0.00229938 0 0 PGK2 5232 broad.mit.edu 37 6 49754324 49754324 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:49754324C>T ENST00000304801.3 - 1 729 c.577G>A c.(577-579)Gaa>Aaa p.E193K NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 193 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) TAATCTAGTTCCTTCTTCATC 0.458000 17 32 0 0 0.000566183 0 0 MUC16 94025 broad.mit.edu 37 19 9086131 9086131 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9086131G>A ENST00000397910.4 - 1 5887 c.5684C>T c.(5683-5685)tCc>tTc p.S1895F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1895 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 GTAAGTCATGGAAGTGTGAGT 0.493000 11 28 0 0 0.000978159 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679102 37679102 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:37679102C>T ENST00000379800.3 - 1 701 c.292G>A c.(292-294)Gaa>Aaa p.E98K NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 98 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) AAGAGGTCTTCGAGGCTGGGT 0.453000 18 56 0 0 0.00121646 0 0 SPACA7 122258 broad.mit.edu 37 13 113086824 113086824 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:113086824G>A ENST00000375699.3 + 5 591 c.419G>A c.(418-420)gGa>gAa p.G140E SPACA7_ENST00000283550.3_Missense_Mutation_p.G171E Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 171 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 CAAAATATTGGAAGATCTTCA 0.393000 15 48 0 0 0.000422831 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307245 39307245 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:39307245G>A ENST00000541347.1 - 2 995 c.756C>T c.(754-756)ttC>ttT p.F252F CX3CR1_ENST00000358309.3_Silent_p.F284F|CX3CR1_ENST00000542107.1_Silent_p.F252F|CX3CR1_ENST00000399220.2_Silent_p.F252F NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 252 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) GCGTCTCCAGGAAAATCATAA 0.463000 41 95 0 0 0.00170553 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140798782 140798782 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140798782C>T ENST00000398594.2 + 1 1356 c.1356C>T c.(1354-1356)ttC>ttT p.F452F PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCGGTTTTCGGACAGTCAG 0.582000 14 47 0 0 0.000308642 0 0 HDAC5 10014 broad.mit.edu 37 17 42170530 42170530 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:42170530G>A ENST00000225983.6 - 6 897 c.574C>T c.(574-576)Ctc>Ttc p.L192F HDAC5_ENST00000393622.2_Missense_Mutation_p.L191F|HDAC5_ENST00000586802.1_Missense_Mutation_p.L191F|HDAC5_ENST00000336057.5_Missense_Mutation_p.L191F Q9UQL6 HDAC5_HUMAN histone deacetylase 5 191 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) TTCGACAAGAGGAATTCCTGG 0.617000 21 56 0 0 0.000586117 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182873548 182873548 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:182873548C>T ENST00000367547.3 - 8 1590 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E333K NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 524 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 ATCATAATTTCCTCTCTCTTT 0.363000 5 49 0 0 0.00116845 0 0 ZNF534 147658 broad.mit.edu 37 19 52938380 52938380 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:52938380G>A ENST00000332323.6 + 3 289 c.228G>A c.(226-228)aaG>aaA p.K76K ZNF534_ENST00000301085.4_Silent_p.K63K|ZNF534_ENST00000433050.1_Silent_p.K63K|ZNF534_ENST00000432303.2_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 76 KRAB. 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 TGGAGCAAAAGAGAGATCCCT 0.458000 20 34 0 0 0.00188189 0 0 STAT4 6775 broad.mit.edu 37 2 191895761 191895761 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:191895761G>A ENST00000392320.2 - 23 2471 c.2157C>T c.(2155-2157)ccC>ccT p.P719P AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Silent_p.P719P NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 719 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.P719P(1) 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) TTGGAGACATGGGAAGAAGGT 0.398000 46 171 0 0 0.000781405 0 0 FGD5 152273 broad.mit.edu 37 3 14861600 14861600 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:14861600C>T ENST00000285046.5 + 1 1132 c.1022C>T c.(1021-1023)tCc>tTc p.S341F FGD5_ENST00000543601.1_Missense_Mutation_p.S100F NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 341 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TTCGTGACTTCCCTCACAGGA 0.532000 28 97 0 0 0.001512 0 0 CEACAM16 388551 broad.mit.edu 37 19 45207424 45207424 + Silent SNP C C T rs114645388 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:45207424C>T ENST00000587331.1 + 4 734 c.519C>T c.(517-519)gtC>gtT p.V173V CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.V173V NM_001039213.2 NP_001034302.2 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion molecule 16 173 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) CCCTGCCCGTCGCTCTCCGCC 0.711000 25 36 0 0 0.00106085 0 0 RNASE9 390443 broad.mit.edu 37 14 21024873 21024873 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:21024873C>T ENST00000557068.1 - 4 2081 c.356G>A c.(355-357)aGa>aAa p.R119K RNASE9_ENST00000553541.1_Missense_Mutation_p.R119K|RNASE9_ENST00000555230.1_Missense_Mutation_p.R119K|RNASE9_ENST00000404716.3_Missense_Mutation_p.R124K|RNASE9_ENST00000557209.1_Missense_Mutation_p.R124K|RNASE9_ENST00000553706.1_Missense_Mutation_p.R124K|RNASE9_ENST00000429244.2_Missense_Mutation_p.R119K|RNASE9_ENST00000556208.1_Missense_Mutation_p.R124K|RNASE9_ENST00000338904.3_Missense_Mutation_p.R119K|RNASE9_ENST00000554964.1_Missense_Mutation_p.R119K P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 119 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) TGGCACAAATCTGTTGTAACA 0.368000 11 33 0 0 0.000673444 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36558978 36558978 + Missense_Mutation SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:36558978G>C ENST00000373178.4 + 6 1113 c.1083G>C c.(1081-1083)caG>caC p.Q361H NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 361 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) GTGTCTTCCAGAAGAGTTGAT 0.572000 40 124 0 0 0.000509022 0 0 HTR2C 3358 broad.mit.edu 37 X 113965940 113965940 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:113965940C>T ENST00000276198.1 + 4 1001 c.273C>T c.(271-273)ttC>ttT p.F91F HTR2C_ENST00000371951.1_Silent_p.F91F|HTR2C_ENST00000371950.3_Silent_p.F91F NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 91 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity p.F91F(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CCAATTACTTCTTAATGTCCC 0.398000 17 42 0 0 0.000566183 0 0 ZNF783 100289678 broad.mit.edu 37 7 148978672 148978672 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:148978672C>T ENST00000434415.1 + 6 1042 c.879C>T c.(877-879)tcC>tcT p.S293S ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 293 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) TGGGGGTGTCCCGAGGCCAGA 0.647000 26 66 0 0 0.00127121 0 0 NLRP9 338321 broad.mit.edu 37 19 56249498 56249498 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:56249498C>T ENST00000332836.2 - 1 270 c.243G>A c.(241-243)agG>agA p.R81R NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 81 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) AGAGATCTTTCCTATTGATCT 0.493000 188 332 0 0 0.000781405 0 0 SCN3A 6328 broad.mit.edu 37 2 165947816 165947816 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:165947816G>A ENST00000360093.3 - 28 5338 c.4847C>T c.(4846-4848)tCc>tTc p.S1616F SCN3A_ENST00000540861.1_Missense_Mutation_p.S99F|SCN3A_ENST00000409101.3_Missense_Mutation_p.S1567F|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1616F NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1616 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) CAAGGTAGGGGACACAAAATA 0.433000 24 56 0 0 0.000720815 0 0 CSMD3 114788 broad.mit.edu 37 8 113317070 113317070 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:113317070C>T ENST00000297405.5 - 52 8390 c.8146G>A c.(8146-8148)Gaa>Aaa p.E2716K CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.E2676K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2646K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2716 Sushi 16. 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 GTTTTGTATTCATAATGGGAG 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 41 0 0 0.000157383 0 0 LY6E 4061 broad.mit.edu 37 8 144102305 144102305 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:144102305G>A ENST00000517503.1 + 2 267 c.231_splice c.e2-1 p.D78_splice LY6E_ENST00000521182.1_5'UTR|LY6E_ENST00000519611.1_5'UTR|LY6E_ENST00000520531.1_5'UTR|LY6E_ENST00000429120.2_5'UTR|LY6E_ENST00000522971.1_Intron|LY6E_ENST00000523847.1_5'UTR|LY6E_ENST00000522528.1_5'UTR|LY6E_ENST00000522024.1_5'UTR|LY6E_ENST00000520466.1_5'UTR|LY6E_ENST00000292494.6_5'UTR|LY6E_ENST00000521699.1_5'UTR|LY6E_ENST00000519546.1_5'UTR|LY6E_ENST00000521003.1_5'UTR Q16553 LY6E_HUMAN lymphocyte antigen 6 complex, locus E 0 UPAR/Ly6. cell surface receptor linked signaling pathway anchored to membrane|integral to plasma membrane endometrium(1)|kidney(3)|large_intestine(2)|lung(1) 7 all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCCAGAGCAGGACAGGCTGCT 0.597000 6 26 0 0 0.00116845 0 0 PLA2R1 22925 broad.mit.edu 37 2 160898678 160898678 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:160898678C>T ENST00000283243.7 - 3 731 c.525G>A c.(523-525)ggG>ggA p.G175G PLA2R1_ENST00000392771.1_Silent_p.G175G NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 175 Fibronectin type-II. 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 TACACGGCATCCCGTGGGTGT 0.433000 16 42 0 0 0.000422831 0 0 STIL 6491 broad.mit.edu 37 1 47755223 47755223 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:47755223G>A ENST00000360380.3 - 10 1270 c.907C>T c.(907-909)Ctc>Ttc p.L303F STIL_ENST00000396221.2_Missense_Mutation_p.L303F|STIL_ENST00000243182.6_Missense_Mutation_p.L303F|STIL_ENST00000337817.5_Missense_Mutation_p.L303F|STIL_ENST00000371877.3_Missense_Mutation_p.L303F Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 303 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) ATAGAATAGAGAACTATGATG 0.338000 10 169 0 0 0.000978159 0 0 PCGF5 84333 broad.mit.edu 37 10 93038033 93038033 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:93038033C>T ENST00000336126.5 + 10 963 c.731C>T c.(730-732)cCt>cTt p.P244L PCGF5_ENST00000543648.1_Missense_Mutation_p.P244L NM_001257101.1|NM_032373.4 NP_001244030.1|NP_115749.2 Q86SE9 PCGF5_HUMAN polycomb group ring finger 5 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|PcG protein complex zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6) 12 TAGTCATACCCTATGGTACTG 0.343000 6 32 0 0 0.00198382 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658121 72658121 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:72658121G>A ENST00000425256.1 - 0 1790 NR_002164.1 ccagttcacggacttcactac 0.507000 11 62 0 0 0.000958276 0 0 SIK3 23387 broad.mit.edu 37 11 116719919 116719919 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:116719919G>A ENST00000375300.1 - 21 3597 c.3592C>T c.(3592-3594)Cca>Tca p.P1198S SIK3_ENST00000375288.1_Missense_Mutation_p.P475S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.P979S|SIK3_ENST00000292055.4_Missense_Mutation_p.P1140S|SIK3_ENST00000446921.2_Missense_Mutation_p.P1138S|SIK3_ENST00000542607.1_Missense_Mutation_p.P1080S Q9Y2K2 SIK3_HUMAN SIK family kinase 3 1140 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GGGCGTGCTGGGTACCCGAGC 0.582000 160 258 0 0 0.000781405 0 0 SEPT5 5413 broad.mit.edu 37 22 19707891 19707891 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:19707891C>T ENST00000438754.2 + 5 718 c.438C>T c.(436-438)ttC>ttT p.F146F SEPT5_ENST00000383045.3_Silent_p.F146F|SEPT5_ENST00000455784.2_Silent_p.F137F|SEPT5_ENST00000406395.1_Silent_p.F137F NM_001009939.2 NP_001009939.1 Q99719 SEPT5_HUMAN septin 5 137 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) AGCAGTACTTCCGTGATGAGA 0.597000 21 46 0 0 0.00121646 0 0 SEMA6D 80031 broad.mit.edu 37 15 48060851 48060851 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:48060851C>T ENST00000316364.5 + 18 2278 c.1839C>T c.(1837-1839)acC>acT p.T613T SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000389433.2_Silent_p.T594T|SEMA6D_ENST00000536845.2_Silent_p.T613T|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000537942.1_Intron NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 613 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TGATTGATACCTGGAGACCTA 0.398000 5 42 0 0 0.000602214 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530902 140530902 + Missense_Mutation SNP C C T rs139534856 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140530902C>T ENST00000231136.1 + 1 1064 c.1064C>T c.(1063-1065)cCa>cTa p.P355L PCDHB6_ENST00000543635.1_Missense_Mutation_p.P219L NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 355 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCCTCATCCCAGAAAACTTA 0.468000 15 57 0 0 0.000308642 0 0 SHISA3 152573 broad.mit.edu 37 4 42403402 42403402 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:42403402C>T ENST00000319234.4 + 2 869 c.651C>T c.(649-651)ttC>ttT p.F217F NM_001080505.1 NP_001073974.1 A0PJX4 SHSA3_HUMAN shisa family member 3 217 multicellular organismal development endoplasmic reticulum membrane|integral to membrane p.F217L(1) endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 CCCAGTATTTCGCTTACCCCC 0.612000 7 57 0 0 0.000442599 0 0 PASD1 139135 broad.mit.edu 37 X 150841117 150841117 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:150841117G>A ENST00000370357.4 + 14 2145 c.1900G>A c.(1900-1902)Gaa>Aaa p.E634K NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 634 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) TGGGCAACAGGAAGATGAGAG 0.473000 11 23 0 0 0.00136819 0 0 FAT3 120114 broad.mit.edu 37 11 92087329 92087329 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:92087329G>A ENST00000298047.6 + 1 2068 c.2051G>A c.(2050-2052)aGa>aAa p.R684K FAT3_ENST00000409404.2_Missense_Mutation_p.R684K|FAT3_ENST00000525166.1_Missense_Mutation_p.R534K|FAT3_ENST00000541502.1_Missense_Mutation_p.R684K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 684 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) TTCAGTTGCAGAGAAACTCGT 0.408000 TCGA Ovarian(4;0.039) 80 180 0 0 0.000781405 0 0 PRAMEF20 645425 broad.mit.edu 37 1 13743089 13743089 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:13743089T>C ENST00000316412.5 + 2 377 c.278T>C c.(277-279)gTt>gCt p.V93A PRAMEF20_ENST00000602960.1_Missense_Mutation_p.V93A NM_001099852.1 NP_001093322.1 Q5VT98 PRA20_HUMAN PRAME family member 20 93 endometrium(1)|kidney(1)|large_intestine(1)|ovary(1) 4 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;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|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) ACCCACAGGGTTCGTCTCAGG 0.602000 22 12 0 0 0.00178596 0 0 COL5A2 1290 broad.mit.edu 37 2 189951477 189951477 + Missense_Mutation SNP C C T rs146963088 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:189951477C>T ENST00000374866.3 - 9 939 c.665G>A c.(664-666)gGa>gAa p.G222E NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 222 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent p.G222V(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACCCTGTGGTCCCCTTGGGCC 0.358000 5 18 0 0 0.00116845 0 0 PRSS37 136242 broad.mit.edu 37 7 141537045 141537045 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:141537045C>T ENST00000350549.3 - 4 805 c.434G>A c.(433-435)cGa>cAa p.R145Q PRSS37_ENST00000438520.1_Missense_Mutation_p.R145Q NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 145 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 GTCAGGGTGTCGGCCTGAGGG 0.468000 29 55 0 0 0.000814825 0 0 WIPF3 644150 broad.mit.edu 37 7 29915505 29915505 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:29915505G>A ENST00000409290.1 + 2 150 c.150G>A c.(148-150)ttG>ttA p.L50L WIPF3_ENST00000242140.5_Silent_p.L50L|WIPF3_ENST00000409123.1_Silent_p.L50L NM_001080529.2 NP_001073998.2 B8ZZV2 B8ZZV2_HUMAN WAS/WASL interacting protein family, member 3 50 breast(2)|large_intestine(3)|lung(6)|ovary(1) 12 GTGCGCTGTTGGCTGATATCC 0.562000 14 39 0 0 0.000422831 0 0 ZNF454 285676 broad.mit.edu 37 5 178392201 178392201 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:178392201C>T ENST00000320129.3 + 5 1099 c.796C>T c.(796-798)Cat>Tat p.H266Y ZNF454_ENST00000519564.1_Missense_Mutation_p.H266Y NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|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) all cancers(165;0.234) TCAGAAAATTCATACTGGAGA 0.418000 18 97 0 0 0.00121646 0 0 PPP1R3D 5509 broad.mit.edu 37 20 58514273 58514273 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:58514273G>A ENST00000370996.3 - 1 1079 c.714C>T c.(712-714)ttC>ttT p.F238F FAM217B_ENST00000358293.3_Intron NM_006242.3 NP_006233.1 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 238 CBM21. glycogen metabolic process protein binding|protein serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1) 13 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) CTGGAAAGCCGAAGGTGAAAA 0.687000 15 34 0 0 0.000566183 0 0 HNF4G 3174 broad.mit.edu 37 8 76465427 76465427 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:76465427G>A ENST00000396423.2 + 5 734 c.610G>A c.(610-612)Gat>Aat p.D204N HNF4G_ENST00000354370.1_Missense_Mutation_p.D167N NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 167 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) ACCATTGGATGATCAGGTACA 0.323000 9 33 0 0 0.00185496 0 0 TEX15 56154 broad.mit.edu 37 8 30703594 30703594 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:30703594G>A ENST00000256246.2 - 1 3014 c.2940C>T c.(2938-2940)atC>atT p.I980I NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 980 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) CATCACTTAGGATATTTAGGA 0.343000 38 77 0 0 0.000953801 0 0 SERPINB2 5055 broad.mit.edu 37 18 61558813 61558813 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:61558813C>T ENST00000457692.1 + 3 468 c.135C>T c.(133-135)ggC>ggT p.G45G SERPINB2_ENST00000299502.4_Silent_p.G45G NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 45 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TCTACATGGGCTCCAGGGGCA 0.537000 7 17 0 0 0.000157383 0 0 HSCB 150274 broad.mit.edu 37 22 29139919 29139919 + Missense_Mutation SNP C C G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:29139919C>G ENST00000216027.3 + 2 351 c.286C>G c.(286-288)Caa>Gaa p.Q96E HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_Missense_Mutation_p.Q96E NM_172002.3 NP_741999.3 Q8IWL3 HSC20_HUMAN HscB mitochondrial iron-sulfur cluster co-chaperone 96 J. iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1)|lung(2)|skin(1) 4 CAGGTACCAGCAACTGCAGCG 0.453000 48 135 0 0 0.000781405 0 0 CSRP3 8048 broad.mit.edu 37 11 19206514 19206514 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:19206514C>T ENST00000533783.1 - 6 733 c.493G>A c.(493-495)Gaa>Aaa p.E165K CSRP3_ENST00000265968.3_Missense_Mutation_p.E165K NM_003476.4 NP_003467.1 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 (cardiac LIM protein) 165 LIM zinc-binding 2. cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 CAATAAAGTTCCCCATCTTTG 0.478000 6 65 0 0 0.000442599 0 0 CNTN4 152330 broad.mit.edu 37 3 3030121 3030121 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:3030121G>A ENST00000397461.1 + 13 1835 c.1451G>A c.(1450-1452)gGa>gAa p.G484E CNTN4_ENST00000448906.2_Missense_Mutation_p.G156E|CNTN4_ENST00000427331.1_Missense_Mutation_p.G484E|CNTN4_ENST00000418658.1_Missense_Mutation_p.G484E|CNTN4_ENST00000397459.2_Missense_Mutation_p.G156E|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.G265E NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 484 Ig-like C2-type 5. 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 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) AACCATTTTGGAACTGCTAGC 0.368000 17 58 0 0 0.000566183 0 0 PCDHA9 9752 broad.mit.edu 37 5 140389223 140389223 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140389223G>A ENST00000532602.1 + 4 3587 c.2554G>A c.(2554-2556)Gga>Aga p.G852R PCDHA12_ENST00000398631.2_Missense_Mutation_p.G843R|PCDHA1_ENST00000504120.2_Missense_Mutation_p.G852R|PCDHA1_ENST00000394633.3_Missense_Mutation_p.G588R|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G838R|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G587R|PCDHA13_ENST00000289272.2_Missense_Mutation_p.G852R|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G852R|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G849R|PCDHA4_ENST00000530339.1_Missense_Mutation_p.G849R|PCDHA7_ENST00000525929.1_Missense_Mutation_p.G839R|PCDHA3_ENST00000522353.2_Missense_Mutation_p.G852R|PCDHA8_ENST00000531613.1_Missense_Mutation_p.G852R|PCDHA5_ENST00000529859.1_Missense_Mutation_p.G838R|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G588R|PCDHA10_ENST00000307360.5_Missense_Mutation_p.G850R|PCDHA2_ENST00000526136.1_Missense_Mutation_p.G850R|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.G909R|PCDHA11_ENST00000398640.2_Missense_Mutation_p.G851R|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.G865R|PCDHA6_ENST00000529310.1_Missense_Mutation_p.G852R 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) ACCAGAGGCAGGAGAAGTGTC 0.512000 13 59 0 0 0.000308642 0 0 HECTD1 25831 broad.mit.edu 37 14 31598187 31598187 + Silent SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:31598187A>G ENST00000399332.1 - 25 4878 c.4390T>C c.(4390-4392)Tta>Cta p.L1464L HECTD1_ENST00000553700.1_Silent_p.L1464L NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1464 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TCAGGGCCTAACTTCCTTTCA 0.453000 18 66 0 0 0.000958276 0 0 BTLA 151888 broad.mit.edu 37 3 112184974 112184974 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:112184974G>A ENST00000334529.5 - 5 1053 c.851C>T c.(850-852)tCc>tTc p.S284F BTLA_ENST00000474965.1_5'UTR|BTLA_ENST00000383680.4_Missense_Mutation_p.S236F NM_181780.3 NP_861445.3 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated 284 T cell costimulation receptor activity breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1) 11 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) CACACATATGGATGCATATTC 0.418000 18 163 0 0 0.00152264 0 0 C6orf10 10665 broad.mit.edu 37 6 32261273 32261273 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:32261273C>T ENST00000375015.4 - 26 1374 c.1174G>A c.(1174-1176)Gga>Aga p.G392R C6orf10_ENST00000447241.2_Missense_Mutation_p.G393R|C6orf10_ENST00000527965.1_Missense_Mutation_p.G377R|C6orf10_ENST00000533191.1_Missense_Mutation_p.G391R|C6orf10_ENST00000442822.2_Missense_Mutation_p.G384R|C6orf10_ENST00000375007.4_Missense_Mutation_p.G391R Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 393 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 GCTTCCTGTCCCTTTGAGACA 0.488000 40 69 0 0 0.00128727 0 0 LIPC 3990 broad.mit.edu 37 15 58840562 58840562 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:58840562G>A ENST00000414170.3 + 7 1129 c.842G>A c.(841-843)cGa>cAa p.R281Q LIPC_ENST00000433326.2_Missense_Mutation_p.R220Q|LIPC_ENST00000299022.5_Missense_Mutation_p.R281Q|LIPC_ENST00000356113.6_Missense_Mutation_p.R281Q P11150 LIPC_HUMAN lipase, hepatic 281 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) TCCCACGAGCGATCGGTGCAC 0.572000 27 97 0 0 0.001512 0 0 HRG 3273 broad.mit.edu 37 3 186394960 186394960 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:186394960C>T ENST00000232003.4 + 7 946 c.866C>T c.(865-867)cCc>cTc p.P289L NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 289 Pro-rich. 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) CATCATCATCCCCACAAGCCA 0.557000 7 58 0 0 0.000274275 0 0 HCLS1 3059 broad.mit.edu 37 3 121361820 121361820 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:121361820G>A ENST00000314583.3 - 6 499 c.408C>T c.(406-408)gtC>gtT p.V136V HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.V136V NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 136 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) AATCAAAGCCGACTGCTGACT 0.507000 39 119 0 0 0.000509022 0 0 ZNF343 79175 broad.mit.edu 37 20 2464423 2464423 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:2464423G>A ENST00000278772.4 - 6 1671 c.1184C>T c.(1183-1185)aCc>aTc p.T395I RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 395 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 TTTTCTGAGGGTTGACTTATC 0.498000 8 28 0 0 0.000274275 0 0 DNAH7 56171 broad.mit.edu 37 2 196640681 196640681 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:196640681C>T ENST00000312428.6 - 60 11191 c.11091G>A c.(11089-11091)aaG>aaA p.K3697K DNAH7_ENST00000409063.1_Silent_p.K180K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3697 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 GTGGCAGAGTCTTTGTGTATT 0.403000 12 57 0 0 0.00185496 0 0 MAP3K19 80122 broad.mit.edu 37 2 135779349 135779349 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:135779349G>A ENST00000375845.3 - 2 104 c.74C>T c.(73-75)cCa>cTa p.P25L MAP3K19_ENST00000375844.3_Missense_Mutation_p.P25L|MAP3K19_ENST00000392917.3_Missense_Mutation_p.P25L|MAP3K19_ENST00000392918.3_Missense_Mutation_p.P25L|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P42L|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P25L|MAP3K19_ENST00000315513.3_5'UTR NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 CAAATCAGTTGGAGAAGAGTT 0.368000 28 60 0 0 0.000491102 0 0 ZNF572 137209 broad.mit.edu 37 8 125988866 125988866 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:125988866C>T ENST00000319286.5 + 3 510 c.356C>T c.(355-357)gCc>gTc p.A119V NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CATACCAATGCCTGTGTCCAG 0.423000 HNSCC(60;0.17) 18 66 0 0 0.00152264 0 0 PLA2G12B 84647 broad.mit.edu 37 10 74695376 74695376 + Silent SNP C C T rs140354458 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:74695376C>T ENST00000373032.3 - 4 679 c.587G>A c.(586-588)tGa>tAa p.*196* NM_032562.2 NP_115951.2 Q9BX93 PG12B_HUMAN phospholipase A2, group XIIB 0 lipid catabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 9 Prostate(51;0.0198) ACTTCTTCCTCATAACTCTTC 0.502000 28 106 0 0 0.00178596 0 0 RFPL1 5988 broad.mit.edu 37 22 29837868 29837868 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:29837868C>T ENST00000354373.2 + 2 920 c.711C>T c.(709-711)ttC>ttT p.F237F RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 237 B30.2/SPRY. zinc ion binding p.F237F(1) endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 CTTTCCTCTTCGTAGACCGCA 0.512000 20 76 0 0 0.00178596 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156375 70156375 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:70156375C>T ENST00000335568.5 + 5 1158 c.1156C>T c.(1156-1158)Cat>Tat p.H386Y UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 386 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) GGCAATCTACCATGGGATCCC 0.428000 9 36 0 0 0.000978159 0 0 CLCNKA 1187 broad.mit.edu 37 1 16355751 16355751 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:16355751G>A ENST00000375692.1 + 13 1312 c.1184G>A c.(1183-1185)cGg>cAg p.R395Q CLCNKA_ENST00000331433.4_Missense_Mutation_p.R395Q|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R395Q|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R352Q|CLCNKA_ENST00000464764.1_3'UTR P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 395 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 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) Niflumic Acid(DB04552) TACCACCCGCGGTTCACCATC 0.637000 20 64 0 0 0.000878237 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576821 33576821 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:33576821C>T ENST00000504830.1 - 19 3645 c.3310G>A c.(3310-3312)Gaa>Aaa p.E1104K ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1019K NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1104 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GAAACATTTTCCTCACTTGGC 0.512000 HNSCC(64;0.19) 8 35 0 0 0.000157383 0 0 TRPV6 55503 broad.mit.edu 37 7 142572886 142572886 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:142572886C>T ENST00000359396.3 - 9 1399 c.1154G>A c.(1153-1155)cGg>cAg p.R385Q NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 385 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) CCCGACCAGCCGGATATCGTC 0.562000 30 59 0 0 0.00058488 0 0 SLC25A23 79085 broad.mit.edu 37 19 6454349 6454349 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:6454349G>A ENST00000301454.4 - 6 886 c.780C>T c.(778-780)ttC>ttT p.F260F SLC25A23_ENST00000414491.2_Silent_p.F77F|SLC25A23_ENST00000334510.5_Silent_p.F260F NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 260 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding p.F260L(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 CATAGGCCATGAACTTGATAG 0.547000 50 147 0 0 0.000781405 0 0 SLC27A2 11001 broad.mit.edu 37 15 50489868 50489868 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:50489868C>T ENST00000267842.5 + 2 882 c.650C>T c.(649-651)tCc>tTc p.S217F SLC27A2_ENST00000544960.1_5'UTR|SLC27A2_ENST00000380902.4_Missense_Mutation_p.S217F NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 217 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) GTCACTTTTTCCACTCCTGCC 0.398000 12 54 0 0 0.000219431 0 0 PRKG2 5593 broad.mit.edu 37 4 82010918 82010918 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:82010918G>A ENST00000395578.1 - 19 2349 c.2233C>T c.(2233-2235)Cct>Tct p.P745S PRKG2_ENST00000418486.2_Missense_Mutation_p.P716S|PRKG2_ENST00000545647.1_Missense_Mutation_p.P325S|PRKG2_ENST00000264399.1_Missense_Mutation_p.P745S|PRKG2_ENST00000509169.1_5'UTR Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 745 AGC-kinase C-terminal. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 TTTTCAGGAGGATATTTGTCA 0.393000 8 42 0 0 0.000442599 0 0 HIPK3 10114 broad.mit.edu 37 11 33361066 33361066 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:33361066C>T ENST00000303296.4 + 6 1904 c.1599C>T c.(1597-1599)ttC>ttT p.F533F HIPK3_ENST00000525975.1_Silent_p.F533F|HIPK3_ENST00000456517.1_Silent_p.F533F|HIPK3_ENST00000379016.3_Silent_p.F533F NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 533 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 TTCTAGATTTCCCTCATAGCA 0.328000 26 153 0 0 0.000720815 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2901664 2901664 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:2901664C>T ENST00000254695.8 + 14 1284 c.1194C>T c.(1192-1194)tcC>tcT p.S398S RAP1GAP2_ENST00000540393.2_Silent_p.S379S|RAP1GAP2_ENST00000542807.1_Silent_p.S398S|RAP1GAP2_ENST00000366401.4_Silent_p.S383S NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 398 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 AGACCCCATCCTACAAGGTAA 0.542000 26 41 0 0 0.001512 0 0 SLC3A1 6519 broad.mit.edu 37 2 44508548 44508548 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:44508548C>T ENST00000260649.6 + 3 709 c.633C>T c.(631-633)ttC>ttT p.F211F SLC3A1_ENST00000409741.1_Silent_p.F211F|SLC3A1_ENST00000409387.1_Silent_p.F211F|SLC3A1_ENST00000409229.3_Silent_p.F211F|SLC3A1_ENST00000410056.3_Silent_p.F211F NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 211 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) TCATCGATTTCATACCAAACC 0.353000 10 56 0 0 0.000673444 0 0 RHPN1 114822 broad.mit.edu 37 8 144463781 144463781 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:144463781C>T ENST00000289013.6 + 13 1629 c.1528C>T c.(1528-1530)Ctg>Ttg p.L510L NM_052924.2 NP_443156.2 Q8TCX5 RHPN1_HUMAN rhophilin, Rho GTPase binding protein 1 535 signal transduction intracellular endometrium(1)|large_intestine(1)|lung(7) 9 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CCGGTGGCGGCTGGTGGGGCC 0.682000 15 45 0 0 0.000566183 0 0 GPR78 27201 broad.mit.edu 37 4 8588947 8588947 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:8588947C>T ENST00000382487.4 + 3 1366 c.949C>T c.(949-951)Ccg>Tcg p.P317S GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 317 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 GAAGAGAACCCCGCGCCCAGC 0.672000 12 62 0 0 0.00136819 0 0 ATXN7 6314 broad.mit.edu 37 3 63967960 63967960 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:63967960C>T ENST00000398590.3 + 7 1404 c.851C>T c.(850-852)tCc>tTc p.S284F ATXN7_ENST00000295900.6_Missense_Mutation_p.S284F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S139F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S284F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S284F|ATXN7_ENST00000488239.1_3'UTR NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 284 cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) ACTGTGAGTTCCTTAGTCAAG 0.517000 13 40 0 0 0.00185496 0 0 ZNF695 57116 broad.mit.edu 37 1 247151033 247151033 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:247151033G>A ENST00000339986.7 - 4 931 c.784C>T c.(784-786)Cat>Tat p.H262Y ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 262 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTTTCAGTATGATTTTTCTCA 0.338000 18 47 0 0 0.000958276 0 0 TRPM7 54822 broad.mit.edu 37 15 50888556 50888556 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:50888556G>A ENST00000313478.7 - 23 3467 c.3186C>T c.(3184-3186)atC>atT p.I1062I TRPM7_ENST00000560955.1_Silent_p.I1062I NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1062 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) AGATTTGAGGGATAACAGAAT 0.328000 7 20 0 0 0.00198382 0 0 HPCA 3208 broad.mit.edu 37 1 33359215 33359215 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:33359215G>A ENST00000373467.3 + 3 571 c.469G>A c.(469-471)Gac>Aac p.D157N HPCA_ENST00000480118.1_3'UTR NM_002143.2 NP_002134.2 P84074 HPCA_HUMAN hippocalcin 157 EF-hand 4. actin binding|calcium ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CCGCCAAATGGACACAAACAA 0.642000 21 39 0 0 0.00047179 0 0 SLC2A4 6517 broad.mit.edu 37 17 7187572 7187572 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:7187572C>T ENST00000317370.8 + 6 869 c.601C>T c.(601-603)Ctg>Ttg p.L201L SLC2A4_ENST00000571308.1_Silent_p.L201L|SLC2A4_ENST00000424875.2_Silent_p.L191L NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 201 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 CACTGCCAGCCTGTGGCCACT 0.627000 28 36 0 0 0.000491102 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174770 150174770 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:150174770C>T ENST00000307271.3 + 5 2474 c.1900C>T c.(1900-1902)Ccc>Tcc p.P634S NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 634 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GTCCGGGTATCCCCATACACA 0.398000 19 88 0 0 0.000958276 0 0 ANO2 57101 broad.mit.edu 37 12 5941763 5941763 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:5941763C>T ENST00000546188.1 - 5 702 c.631G>A c.(631-633)Gag>Aag p.E211K ANO2_ENST00000327087.8_Missense_Mutation_p.E210K|ANO2_ENST00000356134.5_Missense_Mutation_p.E211K Q9NQ90 ANO2_HUMAN anoctamin 2 215 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GCTTTGATCTCGTACATCTAT 0.517000 5 7 0 0 0.000602214 0 0 KIAA1429 25962 broad.mit.edu 37 8 95503874 95503874 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:95503874G>A ENST00000297591.5 - 22 5147 c.5072C>T c.(5071-5073)tCa>tTa p.S1691L KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1691 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TCTATTGCCTGAAAACCCACC 0.433000 24 74 0 0 0.000375601 0 0 RBAK 57786 broad.mit.edu 37 7 5104229 5104229 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:5104229C>T ENST00000396912.1 + 5 1661 c.1142C>T c.(1141-1143)tCc>tTc p.S381F RBAK_ENST00000353796.3_Missense_Mutation_p.S381F|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 381 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) TGTGGGAAATCCTTCTCCCGC 0.468000 28 66 0 0 0.000491102 0 0 VCAN 1462 broad.mit.edu 37 5 82808056 82808056 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:82808056G>A ENST00000265077.3 + 6 1448 c.883G>A c.(883-885)Gat>Aat p.D295N VCAN_ENST00000343200.5_Missense_Mutation_p.D295N|VCAN_ENST00000512590.2_Missense_Mutation_p.D247N|VCAN_ENST00000502527.2_Missense_Mutation_p.D295N|VCAN_ENST00000342785.4_Missense_Mutation_p.D295N|VCAN_ENST00000513984.1_Missense_Mutation_p.D295N NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 295 Link 2. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGACCAGTGCGATTACGGGTG 0.602000 5 26 0 0 0.00198382 0 0 EEF2K 29904 broad.mit.edu 37 16 22262623 22262623 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:22262623C>T ENST00000263026.5 + 6 1072 c.598C>T c.(598-600)Cgg>Tgg p.R200W NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 200 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) GGAGTATAATCGGCACAAGCC 0.612000 5 17 0 0 0.000602214 0 0 DMBT1 1755 broad.mit.edu 37 10 124390770 124390770 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:124390770C>T ENST00000338354.3 + 46 6038 c.5932C>T c.(5932-5934)Cgt>Tgt p.R1978C DMBT1_ENST00000330163.4_Missense_Mutation_p.R1350C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1968C|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1978C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1968C|DMBT1_ENST00000359586.6_Missense_Mutation_p.R698C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1350C Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1978 SRCR 14. 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) CTGTAATCATCGTGAAGATGC 0.542000 10 85 0 0 0.000978159 0 0 ABCC9 10060 broad.mit.edu 37 12 22047080 22047080 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:22047080C>T ENST00000261200.4 - 12 1687 c.1688G>A c.(1687-1689)gGa>gAa p.G563E ABCC9_ENST00000345162.2_Missense_Mutation_p.G563E|ABCC9_ENST00000261201.4_Missense_Mutation_p.G563E NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 563 ABC transmembrane type-1 1. 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) CAGATTGTTTCCACTGGCATA 0.468000 23 32 0 0 0.000720815 0 0 SSTR1 6751 broad.mit.edu 37 14 38679263 38679263 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:38679263C>T ENST00000267377.2 + 3 1286 c.669C>T c.(667-669)ttC>ttT p.F223F NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 223 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 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;0.00444) Octreotide(DB00104) TGGTGGGCTTCGTGTTGTACA 0.607000 7 53 0 0 0.000274275 0 0 CPXM1 56265 broad.mit.edu 37 20 2775066 2775066 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:2775066C>T ENST00000380605.2 - 14 2039 c.1975G>A c.(1975-1977)Gat>Aat p.D659N NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 659 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 CGCCAATAATCCCCGCCCCAC 0.597000 16 39 0 0 0.000958276 0 0 FAM86FP 653113 broad.mit.edu 37 12 8386955 8386955 + RNA SNP T T C rs75997195 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:8386955T>C ENST00000427893.2 - 0 811 CTTGTGCTCCTGGCAGGCAGC 0.612000 4 74 0 0 0.00024832 0 0 UBXN8 7993 broad.mit.edu 37 8 30601699 30601699 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:30601699C>T ENST00000519246.1 + 0 9 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 CCAGGCGCTTCCGCCACCATG 0.622000 6 14 0 0 0.00198382 0 0 DNAH5 1767 broad.mit.edu 37 5 13762882 13762882 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:13762882C>T ENST00000265104.4 - 60 10334 c.10230G>A c.(10228-10230)acG>acA p.T3410T DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3410 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) CCATAGCTTTCGTCCAGGAAC 0.453000 Kartagener syndrome 16 63 0 0 0.00121646 0 0 PTH2R 5746 broad.mit.edu 37 2 209302307 209302307 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:209302307G>A ENST00000272847.2 + 3 437 c.224G>A c.(223-225)aGa>aAa p.R75K PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 75 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TGTTGGCCCAGAGGAACAGTG 0.323000 12 52 0 0 0.00185496 0 0 PLCB4 5332 broad.mit.edu 37 20 9459612 9459612 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:9459612C>T ENST00000378501.2 + 36 3556 c.3541C>T c.(3541-3543)Ccg>Tcg p.P1181S PLCB4_ENST00000278655.4_Silent_p.D1168D|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.D1180D|PLCB4_ENST00000378493.1_Silent_p.D1168D|PLCB4_ENST00000378473.3_Silent_p.D1180D|PLCB4_ENST00000334005.3_Missense_Mutation_p.P1181S NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 0 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 CCGAGATGGACCGCAGACCAG 0.438000 13 27 0 0 0.000422831 0 0 FAH 2184 broad.mit.edu 37 15 80464532 80464532 + Silent SNP C C T rs147016995 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:80464532C>T ENST00000539156.1 + 7 2676 c.438C>T c.(436-438)atC>atT p.I146I FAH_ENST00000561421.1_Silent_p.I216I|FAH_ENST00000261755.5_Silent_p.I216I|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000407106.1_Silent_p.I216I P16930 FAAA_HUMAN fumarylacetoacetate hydrolase (fumarylacetoacetase) 216 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GAGAGCCGATCCCCATTTCCA 0.507000 Tyrosinemia, type 1 16 101 0 0 0.00121646 0 0 ANXA10 11199 broad.mit.edu 37 4 169098892 169098892 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:169098892G>A ENST00000359299.3 + 7 668 c.480_splice c.e7-1 p.G161_splice NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 161 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) ACTTTACAGGGGACCAGAGAG 0.423000 10 42 0 0 0.00136819 0 0 TPO 7173 broad.mit.edu 37 2 1500405 1500405 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:1500405G>A ENST00000345913.4 + 13 2345 c.2254G>A c.(2254-2256)Gac>Aac p.D752N TPO_ENST00000329066.4_Missense_Mutation_p.D752N|TPO_ENST00000349624.3_Missense_Mutation_p.D579N|TPO_ENST00000337415.3_Missense_Mutation_p.D752N|TPO_ENST00000382198.1_Missense_Mutation_p.D579N|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.D695N|TPO_ENST00000346956.3_Missense_Mutation_p.D752N NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 752 Sushi. cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGAGAATGGGGACTTTGTGCA 0.547000 53 174 0 0 0.000781405 0 0 LLGL2 3993 broad.mit.edu 37 17 73567118 73567118 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:73567118G>A ENST00000392550.3 + 17 2230 c.2113G>A c.(2113-2115)Gca>Aca p.A705T LLGL2_ENST00000167462.5_Missense_Mutation_p.A705T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A705T NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 705 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) GGCTCGCTCGGCAGAGGACTC 0.652000 51 88 0 0 0.000781405 0 0 AKR7A3 22977 broad.mit.edu 37 1 19611521 19611521 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:19611521G>A ENST00000361640.4 - 4 1135 c.595C>T c.(595-597)Cct>Tct p.P199S NM_012067.2 NP_036199.2 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 199 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCAGCCAGAGGGTTGAAGGCA 0.582000 20 112 0 0 0.00047179 0 0 COL18A1 80781 broad.mit.edu 37 21 46916446 46916446 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:46916446C>T ENST00000359759.4 + 29 3807 c.3786C>T c.(3784-3786)ccC>ccT p.P1262P COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Silent_p.P847P|COL18A1_ENST00000355480.5_Silent_p.P1027P P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1262 Triple-helical region 6 (COL6). 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) CTCCAGGGCCCCCAGGCCCTC 0.642000 15 87 0 0 0.00121646 0 0 TSPAN18 90139 broad.mit.edu 37 11 44931278 44931278 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:44931278C>T ENST00000340160.3 + 4 325 c.86C>T c.(85-87)gCc>gTc p.A29V TSPAN18_ENST00000520358.2_Missense_Mutation_p.A29V NM_130783.4 NP_570139.3 Q96SJ8 TSN18_HUMAN tetraspanin 18 29 integral to membrane endometrium(1)|large_intestine(6)|lung(3) 10 TGCCTGCTGGCCATCGGCATC 0.657000 28 64 0 0 0.00058488 0 0 MPG 4350 broad.mit.edu 37 16 135717 135717 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:135717C>T ENST00000219431.4 + 5 1069 c.838C>T c.(838-840)Cgg>Tgg p.R280W MPG_ENST00000397817.1_Missense_Mutation_p.R263W NM_002434.3 NP_002425.2 P29372 3MG_HUMAN N-methylpurine-DNA glycosylase 280 depurination|DNA dealkylation involved in DNA repair nucleoplasm alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) CTTCTATGTCCGGGGCAGCCC 0.622000 Base excision repair (BER), DNA glycosylases 15 24 0 0 0.00074312 0 0 HELZ2 85441 broad.mit.edu 37 20 62201921 62201921 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:62201921G>A ENST00000467148.1 - 3 575 c.506C>T c.(505-507)cCc>cTc p.P169L HELZ2_ENST00000479540.1_5'UTR NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GTACATCAGGGGCTGGTTGCA 0.632000 11 69 0 0 0.00136819 0 0 MUC17 140453 broad.mit.edu 37 7 100685015 100685015 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:100685015C>T ENST00000306151.4 + 3 10382 c.10318C>T c.(10318-10320)Cct>Tct p.P3440S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3440 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) CAGTTCATCTCCTACAATCGC 0.512000 44 110 0 0 0.000781405 0 0 SRCAP 10847 broad.mit.edu 37 16 30748566 30748566 + Missense_Mutation SNP C C G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:30748566C>G ENST00000262518.4 + 34 7590 c.7205C>G c.(7204-7206)gCc>gGc p.A2402G SRCAP_ENST00000344771.4_Missense_Mutation_p.A2244G|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2340G NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2402 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTTCGTGGAGCCCGGGCTGAG 0.632000 12 39 0 0 0.000978159 0 0 PHGDH 26227 broad.mit.edu 37 1 120277283 120277283 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:120277283C>T ENST00000369407.3 + 5 1942 c.435C>T c.(433-435)tcC>tcT p.S145S PHGDH_ENST00000369409.4_Silent_p.S179S O43175 SERA_HUMAN phosphoglycerate dehydrogenase 179 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) CCATCATTTCCCCAGAGGTCT 0.483000 182 382 0 0 0.000781405 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678030 25678030 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:25678030C>T ENST00000382051.3 + 13 1782 c.1732C>T c.(1732-1734)Cgc>Tgc p.R578C SLC34A2_ENST00000504570.1_Missense_Mutation_p.R577C|SLC34A2_ENST00000503434.1_Missense_Mutation_p.R577C NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 578 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CCTGCAGTCTCGCTGCCCACG 0.627000 T ROS1 NSCLC 28 103 0 0 0.000953801 0 0 MDC1 9656 broad.mit.edu 37 6 30680529 30680529 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:30680529G>A ENST00000376406.3 - 5 1837 c.1190C>T c.(1189-1191)tCc>tTc p.S397F MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S397F NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 397 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GATAACCATGGAAGCTTGGCT 0.537000 Other conserved DNA damage response genes 26 47 0 0 0.00127121 0 0 GFRAL 389400 broad.mit.edu 37 6 55223835 55223835 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:55223835G>A ENST00000340465.2 + 6 937 c.851G>A c.(850-852)gGg>gAg p.G284E NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 284 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GATATCCTTGGGACGGTCCTT 0.413000 19 30 0 0 0.00121646 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26237612 26237612 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:26237612G>A ENST00000519902.1 - 0 2336 GCTTACCCCAGAATTTCTTCT 0.408000 24 44 0 0 0.000586117 0 0 TTN 7273 broad.mit.edu 37 2 179590249 179590249 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179590249C>T ENST00000589042.1 - 71 20906 c.20682G>A c.(20680-20682)gtG>gtA p.V6894V RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V5650V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.V6577V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6577 Ig-like 50. 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) TTTCTCTAATCACTTCTTCCT 0.438000 15 53 0 0 0.000422831 0 0 C11orf42 160298 broad.mit.edu 37 11 6226882 6226882 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:6226882G>A ENST00000316375.2 + 1 87 c.37G>A c.(37-39)Gaa>Aaa p.E13K NM_173525.2 NP_775796.2 Q8N5U0 CK042_HUMAN chromosome 11 open reading frame 42 13 endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACACTGGATGAAGCTGATGC 0.572000 20 49 0 0 0.00127121 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51917765 51917765 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:51917765C>T ENST00000353836.5 - 8 1556 c.1335G>A c.(1333-1335)aaG>aaA p.K445K SIGLEC10_ENST00000436984.2_Silent_p.K397K|SIGLEC10_ENST00000356298.5_Silent_p.K540K|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000439889.2_Silent_p.K482K|SIGLEC10_ENST00000432469.2_Silent_p.K362K|SIGLEC10_ENST00000525998.1_Silent_p.K355K|SIGLEC10_ENST00000339313.5_Silent_p.K540K|SIGLEC10_ENST00000442846.3_Silent_p.K297K|SIGLEC10_ENST00000441969.3_Silent_p.K387K NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 445 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) TGAGTCCCTTCTTATCTGCAC 0.557000 15 25 0 0 0.000958276 0 0 SLC12A3 6559 broad.mit.edu 37 16 56928523 56928523 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:56928523C>T ENST00000438926.2 + 22 2658 c.2629C>T c.(2629-2631)Cag>Tag p.Q877* SLC12A3_ENST00000563236.1_Nonsense_Mutation_p.Q868*|SLC12A3_ENST00000262502.5_Nonsense_Mutation_p.Q867*|SLC12A3_ENST00000566786.1_Nonsense_Mutation_p.Q876* NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 868 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CGTAGGCGGCCAGATTAACAG 0.587000 18 28 0 0 0.000375601 0 0 STK31 56164 broad.mit.edu 37 7 23768756 23768756 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:23768756G>A ENST00000354639.3 + 6 766 c.302G>A c.(301-303)cGa>cAa p.R101Q STK31_ENST00000428484.1_Missense_Mutation_p.R101Q|STK31_ENST00000433467.2_Missense_Mutation_p.R124Q|STK31_ENST00000355870.3_Missense_Mutation_p.R124Q|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 124 Tudor. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ATTCTAAATCGATCTGATATA 0.358000 35 83 0 0 0.00111076 0 0 SLIT3 6586 broad.mit.edu 37 5 168233455 168233455 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:168233455C>T ENST00000519560.1 - 9 1350 c.931G>A c.(931-933)Gaa>Aaa p.E311K SLIT3_ENST00000332966.8_Missense_Mutation_p.E311K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E311K NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 311 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTTACATTTCGACGATGCCC 0.582000 9 50 0 0 0.000673444 0 0 LRRC32 2615 broad.mit.edu 37 11 76370928 76370928 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:76370928C>T ENST00000407242.2 - 3 1951 c.1709G>A c.(1708-1710)gGg>gAg p.G570E LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.G570E|LRRC32_ENST00000404995.1_Missense_Mutation_p.G570E|AP001189.4_ENST00000447519.1_RNA NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 570 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GAGTGGATTCCCCTGCAGGTA 0.662000 12 26 0 0 0.000308642 0 0 GMPR2 51292 broad.mit.edu 37 14 24707806 24707806 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:24707806G>A ENST00000557854.1 + 8 1383 c.1106G>A c.(1105-1107)gGa>gAa p.G369E GMPR2_ENST00000420554.2_Missense_Mutation_p.G308E|GMPR2_ENST00000559910.1_Missense_Mutation_p.G257E|GMPR2_ENST00000355299.4_Missense_Mutation_p.G290E|GMPR2_ENST00000559836.1_Missense_Mutation_p.G290E|GMPR2_ENST00000559104.1_Missense_Mutation_p.G275E|GMPR2_ENST00000348719.7_Missense_Mutation_p.G351E|GMPR2_ENST00000399440.2_Missense_Mutation_p.G290E|GMPR2_ENST00000456667.3_Missense_Mutation_p.G262E Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 290 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(265;0.0181) GCCTCAGAGGGAAAGACAGTG 0.473000 15 50 0 0 0.000566183 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418273 105418273 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:105418273G>A ENST00000333244.5 - 7 3634 c.3515C>T c.(3514-3516)tCg>tTg p.S1172L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1172 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CGCCCCGAACGATGGCATCTT 0.612000 52 160 0 0 0.000781405 0 0 PGBD5 79605 broad.mit.edu 37 1 230468602 230468602 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:230468602G>A ENST00000321327.2 - 7 1350 c.1351C>T c.(1351-1353)Ccg>Tcg p.P451S PGBD5_ENST00000391860.1_Missense_Mutation_p.P306S|PGBD5_ENST00000525115.1_Missense_Mutation_p.P352S|PGBD5_ENST00000530424.1_5'UTR Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 352 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) TGCTGCACCGGGGAGTAGGCG 0.632000 27 117 0 0 0.000953801 0 0 ZNF676 163223 broad.mit.edu 37 19 22363477 22363477 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:22363477G>A ENST00000397121.2 - 3 1359 c.1042C>T c.(1042-1044)Cga>Tga p.R348* NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATTGAGGATCGATTAAAAGCT 0.413000 11 54 0 0 0.000978159 0 0 SYT10 341359 broad.mit.edu 37 12 33559843 33559843 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:33559843C>T ENST00000228567.3 - 3 1254 c.958G>A c.(958-960)Gat>Aat p.D320N SYT10_ENST00000535526.1_Missense_Mutation_p.D139N NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 320 C2 1. 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) CTGTCAAAATCATACACACTG 0.363000 20 28 0 0 0.00121646 0 0 STON1 11037 broad.mit.edu 37 2 48809019 48809019 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:48809019C>T ENST00000309835.3 + 1 1257 c.1247C>T c.(1246-1248)tCc>tTc p.S416F STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S416F|STON1_ENST00000406226.1_Missense_Mutation_p.S416F|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S416F|STON1_ENST00000404752.1_Missense_Mutation_p.S416F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S416F|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S416F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S416F 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) CAAGAAATTTCCTTGGAAATT 0.388000 13 96 0 0 0.00185496 0 0 KDM6A 7403 broad.mit.edu 37 X 44942739 44942739 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:44942739C>T ENST00000377967.4 + 23 3360 c.3319C>T c.(3319-3321)Cct>Tct p.P1107S KDM6A_ENST00000543216.1_Missense_Mutation_p.P1028S|KDM6A_ENST00000536777.1_Missense_Mutation_p.P1062S|KDM6A_ENST00000382899.4_Missense_Mutation_p.P1114S NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1107 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GACTAAACTTCCTGCTTTTGT 0.403000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 11 15 0 0 0.00185496 0 0 SLC7A14 57709 broad.mit.edu 37 3 170216597 170216597 + Silent SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:170216597C>A ENST00000231706.4 - 4 933 c.618G>T c.(616-618)ggG>ggT p.G206G CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 206 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) AATTCTTCACCCCCAGAGCAA 0.463000 21 80 5.45024e-15 2.44485e-14 0.00047179 1 0 L3MBTL1 26013 broad.mit.edu 37 20 42164515 42164515 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:42164515C>T ENST00000444063.1 + 14 1726 c.1594C>T c.(1594-1596)Ccc>Tcc p.P532S L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P532S|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P600S|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.P600S|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P532S Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 532 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 TGGGGGCTGTCCCCCTCTCAG 0.612000 23 76 0 0 0.000491102 0 0 KIAA1551 55196 broad.mit.edu 37 12 32137514 32137514 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:32137514C>T ENST00000312561.4 + 4 4039 c.3625C>T c.(3625-3627)Cct>Tct p.P1209S KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 GCAGTGTTCTCCTTTGGATAC 0.423000 19 24 0 0 0.000375601 0 0 VIL1 7429 broad.mit.edu 37 2 219294066 219294066 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:219294066G>A ENST00000248444.5 + 7 714 c.626G>A c.(625-627)gGc>gAc p.G209D VIL1_ENST00000440053.1_Missense_Mutation_p.G209D|VIL1_ENST00000392114.2_Intron NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 209 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCTATGTAGGCGTGGTGGAC 0.642000 29 84 0 0 0.00178596 0 0 IL27RA 9466 broad.mit.edu 37 19 14163023 14163023 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:14163023C>T ENST00000263379.2 + 14 1957 c.1832C>T c.(1831-1833)tCt>tTt p.S611F NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 611 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 CCGCTTGACTCTGGGTATGAG 0.677000 8 20 0 0 0.000673444 0 0 CHERP 10523 broad.mit.edu 37 19 16633893 16633893 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:16633893G>A ENST00000546361.2 - 11 2101 c.1950C>T c.(1948-1950)ctC>ctT p.L650L CHERP_ENST00000198939.6_Silent_p.L661L|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 650 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 GCCCAGCAGGGAGATCGAAGT 0.612000 29 82 0 0 0.000491102 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21795907 21795907 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:21795907G>A ENST00000206660.6 + 17 2836 c.2836G>A c.(2836-2838)Gat>Aat p.D946N RPGRIP1_ENST00000556336.1_Missense_Mutation_p.D603N|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.D272N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D908N|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D946N|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D305N Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 946 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) TAAGGGGAAGGATACCAAGGA 0.473000 9 23 0 0 0.000274275 0 0 EPRS 2058 broad.mit.edu 37 1 220197740 220197740 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:220197740G>A ENST00000366923.3 - 8 1078 c.809C>T c.(808-810)tCg>tTg p.S270L NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 270 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) AAAATGATCCGAAGTATAAGT 0.353000 20 41 0 0 0.00121646 0 0 DEFB125 245938 broad.mit.edu 37 20 76787 76787 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:76787G>A ENST00000382410.2 + 2 200 c.200G>A c.(199-201)cGa>cAa p.R67Q NM_153325.2 NP_697020.2 Q8N687 DB125_HUMAN defensin, beta 125 67 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) TATACTCGACGACCAGCATTT 0.368000 45 125 0 0 0.000781405 0 0 KIAA0355 9710 broad.mit.edu 37 19 34791850 34791850 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:34791850G>A ENST00000299505.6 + 2 1345 c.472G>A c.(472-474)Gaa>Aaa p.E158K NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 158 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) GGATCAGAAGGAATTCAGTCT 0.423000 19 31 0 0 0.00229938 0 0 RASGRF1 5923 broad.mit.edu 37 15 79265743 79265743 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:79265743G>A ENST00000419573.3 - 26 3836 c.3562C>T c.(3562-3564)Cct>Tct p.P1188S RASGRF1_ENST00000558480.2_Missense_Mutation_p.P1172S|RASGRF1_ENST00000394745.3_Missense_Mutation_p.P404S NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 1190 Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CCCAGGTAAGGGACACAGGGT 0.502000 6 38 0 0 0.000157383 0 0 STK19 8859 broad.mit.edu 37 6 31948456 31948456 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:31948456C>T ENST00000375331.2 + 7 1093 c.927C>T c.(925-927)gtC>gtT p.V309V STK19_ENST00000375333.2_Silent_p.V313V NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 313 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 TTAGCATGGTCCGGAAGGCAA 0.612000 29 43 0 0 0.00058488 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2341197 2341197 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:2341197G>A ENST00000290974.2 - 4 843 c.504C>T c.(502-504)ttC>ttT p.F168F ZFYVE28_ENST00000515312.1_Silent_p.F98F|ZFYVE28_ENST00000515169.1_Silent_p.F98F|ZFYVE28_ENST00000511071.1_Silent_p.F168F|ZFYVE28_ENST00000509171.1_Silent_p.F121F|ZFYVE28_ENST00000503000.1_Silent_p.F168F NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 168 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 CAAACTCTGCGAACAGGACGT 0.627000 5 42 0 0 0.00198382 0 0 NBEAL2 23218 broad.mit.edu 37 3 47030358 47030358 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:47030358C>T ENST00000450053.3 + 3 346 c.167C>T c.(166-168)cCg>cTg p.P56L NBEAL2_ENST00000292309.5_Missense_Mutation_p.P56L|NBEAL2_ENST00000383740.2_5'UTR NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 56 binding p.P56L(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GCAGAGGTCCCGCTGCTACCA 0.612000 29 98 0 0 0.00058488 0 0 MIR548I2 100302277 broad.mit.edu 37 4 9557802 9557802 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:9557802G>A ENST00000408348.1 - 0 135 NR_031688.1 GATGGATCAGGGACGAACTTT 0.378000 17 129 0 0 0.000566183 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176933 140176933 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140176933G>T ENST00000526136.1 + 1 2384 c.2384G>T c.(2383-2385)gGa>gTa p.G795V PCDHA2_ENST00000520672.2_Missense_Mutation_p.G795V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G795V NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATACGTAGGAAAGGTGAGT 0.388000 6 36 2.7689e-08 1.23777e-07 0.00198382 1 0 SLC9C2 284525 broad.mit.edu 37 1 173567128 173567128 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:173567128G>A ENST00000367714.3 - 4 694 c.272C>T c.(271-273)tCa>tTa p.S91L RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 91 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AGAATAAAGTGAAAAACTTGA 0.303000 40 46 0 0 0.00170553 0 0 XAB2 56949 broad.mit.edu 37 19 7684837 7684837 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:7684837G>A ENST00000358368.4 - 17 2428 c.2391C>T c.(2389-2391)ttC>ttT p.F797F XAB2_ENST00000534844.1_Silent_p.F794F NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 797 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 CTCACCTCACGAACAGGATCT 0.667000 Direct reversal of damage;Nucleotide excision repair (NER) 28 69 0 0 0.000692331 0 0 OR14C36 127066 broad.mit.edu 37 1 248512192 248512192 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:248512192G>A ENST00000317861.1 + 1 116 c.116G>A c.(115-117)gGa>gAa p.G39E NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 ACTCTAATGGGAAACATCCTC 0.433000 28 60 0 0 0.00178596 0 0 ATL2 64225 broad.mit.edu 37 2 38546143 38546143 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:38546143C>A ENST00000378954.4 - 3 383 c.382G>T c.(382-384)Ggt>Tgt p.G128C ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000332337.4_Missense_Mutation_p.G110C|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000402054.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.G128C|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000452935.2_Missense_Mutation_p.G110C NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 128 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 TTGTTTCCACCAATCCAACTT 0.343000 10 408 0.000308642 0.00136817 0.000308642 1 0 GLI3 2737 broad.mit.edu 37 7 42065950 42065950 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:42065950G>A ENST00000395925.3 - 8 1174 c.1090C>T c.(1090-1092)Cta>Tta p.L364L GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 364 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TGTCGGCTTAGGATCTGCTGA 0.537000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 11 53 0 0 0.000219431 0 0 ZG16B 124220 broad.mit.edu 37 16 2881830 2881830 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:2881830G>A ENST00000382280.3 + 4 376 c.297G>A c.(295-297)gtG>gtA p.V99V ZG16B_ENST00000572863.1_Silent_p.V69V NM_145252.2 NP_660295.2 Q96DA0 ZG16B_HUMAN zymogen granule protein 16B 99 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 CCTGGGACGTGAAACTGGGAG 0.567000 19 23 0 0 0.000958276 0 0 LIPI 149998 broad.mit.edu 37 21 15538756 15538756 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:15538756C>T ENST00000344577.2 - 5 748 c.723G>A c.(721-723)gaG>gaA p.E241E LIPI_ENST00000536861.1_Silent_p.E220E NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 220 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) GTCCCAAGGGCTCTTGAATGC 0.353000 13 63 0 0 0.000219431 0 0 NPAS4 266743 broad.mit.edu 37 11 66192568 66192568 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:66192568C>T ENST00000311034.2 + 7 2383 c.2207C>T c.(2206-2208)cCa>cTa p.P736L NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 736 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GCAGAGGGCCCAGGAGGGGCC 0.582000 22 41 0 0 0.00229938 0 0 MARCH10 162333 broad.mit.edu 37 17 60813350 60813350 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:60813350C>T ENST00000544856.2 - 7 2254 c.1876G>A c.(1876-1878)Gaa>Aaa p.E626K RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.E665K|MARCH10_ENST00000456609.2_Missense_Mutation_p.E627K|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.E627K|RP11-156L14.1_ENST00000584597.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 627 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GTTTCCTTTTCATCTGTGAAA 0.378000 42 59 0 0 0.000781405 0 0 EPAS1 2034 broad.mit.edu 37 2 46603707 46603707 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:46603707C>T ENST00000263734.3 + 9 1574 c.1064C>T c.(1063-1065)tCc>tTc p.S355F NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 355 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GTGGTGTTCTCCATGGACCAG 0.483000 18 168 0 0 0.00121646 0 0 NPAP1 23742 broad.mit.edu 37 15 24921125 24921125 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:24921125G>A ENST00000329468.2 + 1 585 c.111G>A c.(109-111)cgG>cgA p.R37R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CGCCCGGTCGGGCTCACTCTG 0.721000 5 24 0 0 0.000602214 0 0 AIPL1 23746 broad.mit.edu 37 17 6330342 6330342 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:6330342C>T ENST00000381129.3 - 4 581 c.501G>A c.(499-501)tgG>tgA p.W167* AIPL1_ENST00000576307.1_Nonsense_Mutation_p.W107*|AIPL1_ENST00000570466.1_Nonsense_Mutation_p.W145*|AIPL1_ENST00000571740.1_Nonsense_Mutation_p.W159*|AIPL1_ENST00000250087.5_Nonsense_Mutation_p.W104*|AIPL1_ENST00000574506.1_Nonsense_Mutation_p.W155*|AIPL1_ENST00000576776.1_Nonsense_Mutation_p.W167*|AIPL1_ENST00000575265.1_Nonsense_Mutation_p.W167* NM_001033055.1|NM_014336.3 NP_001028227.1|NP_055151.3 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting protein-like 1 167 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) TGCTCAGGTTCCAGGTCTCCC 0.622000 60 106 0 0 0.000781405 0 0 TIAM1 7074 broad.mit.edu 37 21 32638597 32638597 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:32638597G>A ENST00000286827.3 - 5 1163 c.692C>T c.(691-693)tCc>tTc p.S231F TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.S231F NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 231 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 GTCACCCAAGGAATTGGCTCT 0.562000 16 70 0 0 0.000566183 0 0 TMEM40 55287 broad.mit.edu 37 3 12790229 12790229 + Missense_Mutation SNP C C T rs146477309 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:12790229C>T ENST00000314124.7 - 3 492 c.136G>A c.(136-138)Gag>Aag p.E46K TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_Missense_Mutation_p.E46K|TMEM40_ENST00000431022.2_Missense_Mutation_p.E62K|TMEM40_ENST00000264728.8_Missense_Mutation_p.E46K NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 46 integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 TTGTTTCTCTCATATTGTTCT 0.473000 83 250 0 0 0.000781405 0 0 LRP2 4036 broad.mit.edu 37 2 170012891 170012891 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:170012891C>T ENST00000263816.3 - 65 12329 c.12044G>A c.(12043-12045)gGg>gAg p.G4015E NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4015 EGF-like 15; calcium-binding (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGGACAAGTCCCAAATTGTTC 0.433000 18 51 0 0 0.000958276 0 0 USH1C 10083 broad.mit.edu 37 11 17531101 17531101 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:17531101G>A ENST00000005226.7 - 18 1814 c.1815C>T c.(1813-1815)atC>atT p.I605I USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 GCGGGGGAGGGATGGGAATGG 0.667000 13 12 0 0 0.00185496 0 0 ASXL3 80816 broad.mit.edu 37 18 31324134 31324134 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:31324134C>T ENST00000269197.5 + 12 4322 c.4322C>T c.(4321-4323)tCa>tTa p.S1441L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1441 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 GACAAAAATTCAGGGCCTCGA 0.468000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 97 0 0 0.00148497 0 0 TMEM161B 153396 broad.mit.edu 37 5 87492296 87492296 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:87492296G>A ENST00000296595.6 - 12 1320 c.1196C>T c.(1195-1197)tCc>tTc p.S399F TMEM161B_ENST00000506536.1_Missense_Mutation_p.P185S|TMEM161B_ENST00000511218.1_Missense_Mutation_p.S190F|TMEM161B_ENST00000515293.1_5'UTR|TMEM161B_ENST00000512429.1_Missense_Mutation_p.S388F|TMEM161B_ENST00000514135.1_Missense_Mutation_p.S399F NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 399 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) AATACCCCAGGAATGATTACC 0.308000 8 26 0 0 0.000978159 0 0 PTPN11 5781 broad.mit.edu 37 12 112924331 112924331 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:112924331A>T ENST00000351677.2 + 11 1475 c.1277A>T c.(1276-1278)cAc>cTc p.H426L PTPN11_ENST00000392597.1_Missense_Mutation_p.H426L NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 430 Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 TGGCCGGACCACGGCGTGCCC 0.567000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 14 36 0 0 0.000308642 0 0 ZNF536 9745 broad.mit.edu 37 19 31039159 31039159 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:31039159C>T ENST00000355537.3 + 4 2780 c.2633C>T c.(2632-2634)tCg>tTg p.S878L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 878 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) GGCATGTCTTCGGAGGTCCCC 0.557000 35 67 0 0 0.00170553 0 0 PXDNL 137902 broad.mit.edu 37 8 52384783 52384783 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:52384783C>T ENST00000356297.4 - 8 876 c.776G>A c.(775-777)gGa>gAa p.G259E PXDNL_ENST00000543296.1_Missense_Mutation_p.G259E NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 259 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) TTTGGGGTTTCCTTCCGCCCG 0.443000 15 85 0 0 0.000566183 0 0 BBX 56987 broad.mit.edu 37 3 107491750 107491750 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:107491750G>A ENST00000415149.2 + 11 1509 c.1182G>A c.(1180-1182)aaG>aaA p.K394K BBX_ENST00000325805.8_Silent_p.K394K|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Silent_p.K394K|BBX_ENST00000402543.1_Silent_p.K394K NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) AAATTAGAAAGGAAGAGTTAG 0.318000 5 53 0 0 0.00116845 0 0 SLIT2 9353 broad.mit.edu 37 4 20521064 20521064 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:20521064C>T ENST00000504154.1 + 12 1370 c.1118C>T c.(1117-1119)tCc>tTc p.S373F SLIT2_ENST00000503823.1_Missense_Mutation_p.S373F|SLIT2_ENST00000273739.5_Missense_Mutation_p.S377F|SLIT2_ENST00000503837.1_Missense_Mutation_p.S377F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 373 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GGACTGTTTTCCTTACAGCTC 0.313000 18 62 0 0 0.00152264 0 0 DGKE 8526 broad.mit.edu 37 17 54939525 54939525 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:54939525C>T ENST00000284061.3 + 11 1617 c.1437C>T c.(1435-1437)gtC>gtT p.V479V NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 479 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) TGCTGGAAGTCGTTGGAGTAT 0.368000 15 54 0 0 0.000566183 0 0 DOCK6 57572 broad.mit.edu 37 19 11361648 11361648 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:11361648C>T ENST00000294618.7 - 6 633 c.622G>A c.(622-624)Gag>Aag p.E208K NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 208 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GCCGCCCGCTCTAGCAGAGAG 0.657000 25 59 0 0 0.000586117 0 0 ITSN2 50618 broad.mit.edu 37 2 24536370 24536370 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:24536370G>A ENST00000355123.4 - 4 590 c.147C>T c.(145-147)ttC>ttT p.F49F ITSN2_ENST00000406921.3_Silent_p.F49F|ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Silent_p.F49F NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 49 EH 1. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGATTGTAGGAAAAAATTAC 0.328000 26 57 0 0 0.00178596 0 0 KCND2 3751 broad.mit.edu 37 7 120373011 120373011 + Nonsense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:120373011T>A ENST00000331113.4 + 2 2135 c.1170T>A c.(1168-1170)tgT>tgA p.C390* NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 390 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GTTCTATCTGTTCGCTGAGTG 0.413000 8 41 0 0 0.000274275 0 0 NELL1 4745 broad.mit.edu 37 11 21594829 21594829 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:21594829C>T ENST00000298925.5 + 20 2493 c.2340C>T c.(2338-2340)gaC>gaT p.D780D NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Silent_p.D705D|NELL1_ENST00000325319.5_Silent_p.D695D|NELL1_ENST00000357134.5_Silent_p.D752D Q92832 NELL1_HUMAN NEL-like 1 (chicken) 752 VWFC 5. 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 GTGTCAGTGACCCCTGCCTAG 0.507000 11 15 0 0 0.000978159 0 0 DOK3 79930 broad.mit.edu 37 5 176931822 176931822 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:176931822G>A ENST00000312943.6 - 5 727 c.567C>T c.(565-567)atC>atT p.I189I DOK3_ENST00000501403.2_Silent_p.I189I|DOK3_ENST00000377112.4_Silent_p.I87I|DOK3_ENST00000357198.4_Silent_p.I245I NM_001144875.1 NP_001138347.1 Q7L591 DOK3_HUMAN docking protein 3 245 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) CCCTCAGCTGGATGGCGTCTG 0.682000 12 39 0 0 0.00136819 0 0 EFTUD1 79631 broad.mit.edu 37 15 82444573 82444573 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:82444573G>A ENST00000268206.7 - 18 2390 c.2222C>T c.(2221-2223)aCc>aTc p.T741I EFTUD1_ENST00000359445.3_Missense_Mutation_p.T690I NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 741 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 AGTTGTTATGGTGATTAGCCC 0.428000 20 76 0 0 0.00188189 0 0 NEB 4703 broad.mit.edu 37 2 152554096 152554096 + Missense_Mutation SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:152554096A>G ENST00000397345.3 - 14 1421 c.1219T>C c.(1219-1221)Ttc>Ctc p.F407L NEB_ENST00000172853.10_Missense_Mutation_p.F407L|NEB_ENST00000409198.1_Missense_Mutation_p.F407L|NEB_ENST00000603639.1_Missense_Mutation_p.F407L|NEB_ENST00000427231.2_Missense_Mutation_p.F407L|NEB_ENST00000604864.1_Missense_Mutation_p.F407L NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 407 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) TCGAGCTTGAATTTGGGGGTC 0.328000 39 119 0 0 0.000781405 0 0 CD163 9332 broad.mit.edu 37 12 7635987 7635987 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:7635987C>T ENST00000359156.4 - 12 3266 c.3064G>A c.(3064-3066)Gaa>Aaa p.E1022K CD163_ENST00000396620.3_Missense_Mutation_p.E1055K|CD163_ENST00000432237.2_Missense_Mutation_p.E1022K|CD163_ENST00000541972.1_Missense_Mutation_p.E1010K NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1022 SRCR 9. 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 GCAGCGTCTTCCTTGTGCCCA 0.522000 7 14 0 0 0.000274275 0 0 OLAH 55301 broad.mit.edu 37 10 15107691 15107691 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:15107691G>A ENST00000378217.3 + 7 857 c.670G>A c.(670-672)Gaa>Aaa p.E224K OLAH_ENST00000378228.3_Missense_Mutation_p.E171K|OLAH_ENST00000485251.1_3'UTR NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 171 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 TGAAGCCAAGGAATTTGTGAA 0.388000 18 32 0 0 0.00121646 0 0 MANSC1 54682 broad.mit.edu 37 12 12483765 12483765 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:12483765G>A ENST00000535902.1 - 4 1055 c.492C>T c.(490-492)acC>acT p.T164T MANSC1_ENST00000545735.1_Silent_p.T83T|MANSC1_ENST00000396349.3_Silent_p.T130T Q9H8J5 MANS1_HUMAN MANSC domain containing 1 164 integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) ATGAGATATCGGTGGGCTTTG 0.453000 25 59 0 0 0.000720815 0 0 EPHB2 2048 broad.mit.edu 37 1 23233402 23233402 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:23233402G>A ENST00000400191.3 + 11 2106 c.2088G>A c.(2086-2088)atG>atA p.M696I EPHB2_ENST00000374632.3_Missense_Mutation_p.M697I|EPHB2_ENST00000374630.3_Missense_Mutation_p.M696I|EPHB2_ENST00000374627.1_Missense_Mutation_p.M691I NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 696 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CACCTGTGATGATCATCACCG 0.592000 17 42 0 0 0.000566183 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47115659 47115659 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:47115659C>T ENST00000290341.3 + 6 865 c.531C>T c.(529-531)ccC>ccT p.P177P IGF2BP1_ENST00000431824.2_Intron NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 177 CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GGGGTCAGCCCCGCCAGGGCT 0.647000 16 17 0 0 0.000566183 0 0 TTN 7273 broad.mit.edu 37 2 179553445 179553445 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179553445G>A ENST00000589042.1 - 126 32380 c.32156C>T c.(32155-32157)tCc>tTc p.S10719F TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S9475F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S10402F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10402 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) AACTGCGAAGGATAGTTTTTC 0.373000 26 97 0 0 0.000878237 0 0 TRPM8 79054 broad.mit.edu 37 2 234847758 234847758 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:234847758C>T ENST00000324695.4 + 5 505 c.465C>T c.(463-465)ttC>ttT p.F155F TRPM8_ENST00000355722.4_Silent_p.F105F|TRPM8_ENST00000409625.1_Silent_p.F78F|TRPM8_ENST00000433712.2_5'UTR NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 155 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) CCAAGAACTTCGCCCTGAAGC 0.607000 17 42 0 0 0.000566183 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195625 18195625 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:18195625C>T ENST00000314254.3 + 1 1242 c.822C>T c.(820-822)ttC>ttT p.F274F RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 274 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TTTACTTCTTCGTGGGCTCCT 0.488000 25 80 0 0 0.000878237 0 0 SLC1A5 6510 broad.mit.edu 37 19 47280476 47280476 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:47280476G>A ENST00000542575.2 - 6 1873 c.1245C>T c.(1243-1245)atC>atT p.I415I SLC1A5_ENST00000412532.2_Silent_p.I187I|SLC1A5_ENST00000594991.1_Silent_p.I239I|SLC1A5_ENST00000434726.2_Silent_p.I213I NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 415 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) ACAGGATGGTGATGATCTTTA 0.607000 20 53 0 0 0.000375601 0 0 BCAM 4059 broad.mit.edu 37 19 45322411 45322411 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:45322411C>T ENST00000391955.1 + 11 1479 c.1435C>T c.(1435-1437)Cca>Tca p.P479S BCAM_ENST00000270233.6_Missense_Mutation_p.P479S P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 479 Ig-like C2-type 3. 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) CCGCGGCCATCCAGACCCCAA 0.592000 98 177 0 0 0.000781405 0 0 CSMD2 114784 broad.mit.edu 37 1 34190950 34190950 + Splice_Site SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:34190950T>A ENST00000373381.4 - 17 2871 c.2695_splice c.e17+1 p.T899_splice NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 859 Sushi 5. 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) TGAGACTCACTCTCATAGCGG 0.582000 16 27 0 0 0.000566183 0 0 ASTE1 28990 broad.mit.edu 37 3 130743590 130743590 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:130743590C>A ENST00000264992.3 - 3 1002 c.561G>T c.(559-561)aaG>aaT p.K187N ASTE1_ENST00000514044.1_Missense_Mutation_p.K187N NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 187 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 TTTGTGTGCCCTTAATAGTGT 0.408000 12 50 0.00010058 0.000447218 0.00136819 1 0 OR51F1 256892 broad.mit.edu 37 11 4790629 4790629 + Missense_Mutation SNP C C T rs149687850 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:4790629C>T ENST00000380383.1 - 1 539 c.540G>A c.(538-540)atG>atA p.M180I OR51F1_ENST00000343430.3_Missense_Mutation_p.M173I|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 173 integral to membrane olfactory receptor activity p.M173I(1) 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) AAAGGGCATTCATTCTACAGA 0.383000 10 58 0 0 0.000978159 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303995 151303995 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:151303995G>A ENST00000370323.4 - 4 414 c.98C>T c.(97-99)gCt>gTt p.A33V MAGEA10_ENST00000244096.3_Missense_Mutation_p.A33V|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 33 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) CTCCTCCACAGCCAGGGGAGC 0.557000 17 18 0 0 0.000566183 0 0 MLLT4 4301 broad.mit.edu 37 6 168312016 168312016 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:168312016C>T ENST00000366806.2 + 15 2026 c.1884C>T c.(1882-1884)gtC>gtT p.V628V MLLT4_ENST00000392112.1_Silent_p.V612V|MLLT4_ENST00000351017.4_Silent_p.V628V|MLLT4_ENST00000447894.2_Silent_p.V628V|MLLT4_ENST00000344191.4_Silent_p.V628V|MLLT4_ENST00000400822.3_Silent_p.V627V|MLLT4_ENST00000392108.3_Silent_p.V628V P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 628 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GCTCTACAGTCCACTTTAAGT 0.353000 T MLL AL 22 78 0 0 0.00188189 0 0 DMRT2 10655 broad.mit.edu 37 9 1053734 1053734 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:1053734C>T ENST00000259622.6 + 2 538 c.538C>T c.(538-540)Ctt>Ttt p.L180F DMRT2_ENST00000412350.2_Missense_Mutation_p.L180F|DMRT2_ENST00000358146.2_Missense_Mutation_p.L180F|DMRT2_ENST00000382251.3_Missense_Mutation_p.L180F|DMRT2_ENST00000302441.6_Missense_Mutation_p.L180F|DMRT2_ENST00000382255.3_Missense_Mutation_p.L180F Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 2 180 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) CAAGAAGGGGCTTTCCGGGAA 0.473000 35 104 0 0 0.00170553 0 0 ATP13A1 57130 broad.mit.edu 37 19 19766392 19766392 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:19766392G>A ENST00000357324.6 - 10 1367 c.1341C>T c.(1339-1341)ttC>ttT p.F447F ATP13A1_ENST00000291503.5_Silent_p.F329F|ATP13A1_ENST00000496082.1_5'UTR NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 447 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GGAAGAGGATGAAGATGAAGG 0.592000 12 58 0 0 0.00185496 0 0 PHOX2B 8929 broad.mit.edu 37 4 41747901 41747901 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:41747901G>A ENST00000226382.2 - 3 1227 c.868C>T c.(868-870)Ccc>Tcc p.P290S NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 290 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 CTGGCGAAGGGACCCCCAAGC 0.672000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 21 71 0 0 0.000720815 0 0 XPR1 9213 broad.mit.edu 37 1 180804099 180804099 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:180804099G>A ENST00000367590.4 + 10 1422 c.1224G>A c.(1222-1224)atG>atA p.M408I XPR1_ENST00000367589.3_Missense_Mutation_p.M408I NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 408 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 TGATACTGATGGACCTGGAAT 0.438000 18 45 0 0 0.000958276 0 0 PSG8 440533 broad.mit.edu 37 19 43262317 43262317 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:43262317C>T ENST00000404209.4 - 3 642 c.546G>A c.(544-546)atG>atA p.M182I PSG8_ENST00000406636.3_Missense_Mutation_p.M60I|PSG8_ENST00000306511.4_Missense_Mutation_p.M182I|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 182 Ig-like C2-type 1. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TCTGACCATTCATCCACCACA 0.527000 53 109 0 0 0.000781405 0 0 OR56A3 390083 broad.mit.edu 37 11 5968724 5968724 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:5968724C>T ENST00000329564.6 + 1 155 c.148C>T c.(148-150)Ctg>Ttg p.L50L NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACCACCCTCCTGATGACCAT 0.607000 15 61 0 0 0.000308642 0 0 AMBRA1 55626 broad.mit.edu 37 11 46529781 46529781 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:46529781G>A ENST00000458649.2 - 9 2717 c.2299C>T c.(2299-2301)Cca>Tca p.P767S AMBRA1_ENST00000533727.1_Missense_Mutation_p.P648S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P677S|AMBRA1_ENST00000298834.3_Intron|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P738S|AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P738S Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 767 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TCTACTGATGGACCCTGGTTG 0.512000 7 51 0 0 0.000157383 0 0 REG4 83998 broad.mit.edu 37 1 120337248 120337248 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:120337248C>T ENST00000354219.1 - 7 909 c.470G>A c.(469-471)cGa>cAa p.R157Q REG4_ENST00000530654.1_3'UTR|REG4_ENST00000256585.5_Missense_Mutation_p.R157Q NM_001159352.1 NP_001152824.1 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 157 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) GCTCTATGGTCGGTACTTGCA 0.428000 191 439 0 0 0.000781405 0 0 KCNH7 90134 broad.mit.edu 37 2 163253381 163253381 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:163253381G>A ENST00000332142.5 - 11 2581 c.2482C>T c.(2482-2484)Ctc>Ttc p.L828F NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 828 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) CAGTATGTGAGGGCTCTTACA 0.353000 8 23 0 0 0.000673444 0 0 KLHL13 90293 broad.mit.edu 37 X 117053535 117053535 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:117053535G>A ENST00000371876.1 - 3 2787 c.366C>T c.(364-366)ttC>ttT p.F122F KLHL13_ENST00000469946.1_Silent_p.F122F|KLHL13_ENST00000539496.1_Silent_p.F176F|KLHL13_ENST00000371878.1_Silent_p.F122F|KLHL13_ENST00000545703.1_Silent_p.F131F|KLHL13_ENST00000540167.1_Silent_p.F157F|KLHL13_ENST00000541812.1_Silent_p.F157F|KLHL13_ENST00000262820.3_Silent_p.F173F|KLHL13_ENST00000371882.1_Silent_p.F122F Q9P2N7 KLH13_HUMAN kelch-like family member 13 173 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GAATCTGTAGGAAACTGGCAG 0.383000 30 43 0 0 0.00178596 0 0 FRMD7 90167 broad.mit.edu 37 X 131228089 131228089 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:131228089C>T ENST00000298542.4 - 5 538 c.363G>A c.(361-363)atG>atA p.M121I FRMD7_ENST00000464296.1_Missense_Mutation_p.M106I|FRMD7_ENST00000370879.1_Start_Codon_SNP_p.M1I NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 121 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TGTGAGATACCATCAACGCTG 0.443000 24 37 0 0 0.00178596 0 0 PPIL3 53938 broad.mit.edu 37 2 201747152 201747152 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:201747152A>T ENST00000392283.4 - 4 353 c.85T>A c.(85-87)Ttg>Atg p.L29M PPIL3_ENST00000409449.1_Intron|PPIL3_ENST00000465823.1_Intron|PPIL3_ENST00000286175.8_Intron|PPIL3_ENST00000409361.1_Intron NM_130906.2 NP_570981.1 Q9H2H8 PPIL3_HUMAN peptidylprolyl isomerase (cyclophilin)-like 3 29 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity|protein binding endometrium(1)|lung(2) 3 CAAAGAGCCAAGAAATTCTGA 0.358000 44 128 0 0 0.000781405 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731113 140731113 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140731113C>T ENST00000523390.1 + 1 1286 c.1286C>T c.(1285-1287)tCc>tTc p.S429F PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_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) CCAGCCCTTTCCTCCAGGACA 0.517000 7 39 0 0 0.000274275 0 0 ARMC3 219681 broad.mit.edu 37 10 23319702 23319702 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:23319702G>A ENST00000298032.5 + 17 2307 c.2223G>A c.(2221-2223)aaG>aaA p.K741K ARMC3_ENST00000376528.4_Silent_p.K478K|ARMC3_ENST00000409983.3_Silent_p.K734K NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 741 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CCAATATTAAGGAACAGATTG 0.343000 5 31 0 0 0.000602214 0 0 DNAH9 1770 broad.mit.edu 37 17 11597700 11597700 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:11597700G>A ENST00000262442.3 + 22 4876 c.4808G>A c.(4807-4809)cGg>cAg p.R1603Q DNAH9_ENST00000454412.2_Missense_Mutation_p.R1603Q NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1603 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) GCCTTCCCGCGGTTTTACTTT 0.517000 21 21 0 0 0.00047179 0 0 PKD2L1 9033 broad.mit.edu 37 10 102056964 102056964 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:102056964G>A ENST00000318222.3 - 6 1340 c.956_splice c.e6-1 p.L320_splice PKD2L1_ENST00000338519.3_Splice_Site_p.L245_splice|PKD2L1_ENST00000353274.3_Splice_Site_p.L320_splice NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 320 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TCCACCACCAGCCTATAGGGG 0.582000 9 28 0 0 0.000274275 0 0 TNN 63923 broad.mit.edu 37 1 175066590 175066590 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:175066590G>A ENST00000239462.4 + 8 1739 c.1626G>A c.(1624-1626)gtG>gtA p.V542V NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 542 Fibronectin type-III 4. 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) CTGACCGGGTGACTGAGAATA 0.512000 8 28 0 0 0.000274275 0 0 ZNF35 7584 broad.mit.edu 37 3 44692679 44692679 + Silent SNP C C T rs143301932 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:44692679C>T ENST00000396056.2 + 2 355 c.120C>T c.(118-120)tcC>tcT p.S40S RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_Silent_p.S40S|ZNF35_ENST00000453164.1_Silent_p.S40S|ZNF35_ENST00000399560.2_Silent_p.S40S|ZNF35_ENST00000542250.1_5'UTR NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 40 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) AAGTGCACTCCGAGAACATCA 0.552000 13 53 0 0 0.000219431 0 0 HSPG2 3339 broad.mit.edu 37 1 22170655 22170655 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:22170655G>A ENST00000374695.3 - 65 8681 c.8602C>T c.(8602-8604)Cct>Tct p.P2868S NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2868 Ig-like C2-type 14. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGCCGGGCAGGGAGGTTTCCT 0.632000 24 82 0 0 0.000720815 0 0 CTAGE5 4253 broad.mit.edu 37 14 39815129 39815129 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:39815129C>T ENST00000553728.1 + 25 3671 c.3458C>T c.(3457-3459)gCc>gTc p.A1153V CTAGE5_ENST00000553352.1_Missense_Mutation_p.A589V|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A589V|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A623V|CTAGE5_ENST00000280083.3_Missense_Mutation_p.A618V|CTAGE5_ENST00000557038.1_Missense_Mutation_p.A538V|CTAGE5_ENST00000341502.5_Missense_Mutation_p.A618V|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A589V|CTAGE5_ENST00000348007.3_Missense_Mutation_p.A575V|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A543V|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A606V CCTGATTCAGCCCTTCCTCCA 0.323000 9 44 0 0 0.000274275 0 0 DOCK3 1795 broad.mit.edu 37 3 51393678 51393678 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:51393678G>A ENST00000266037.9 + 42 4431 c.4408G>A c.(4408-4410)Gaa>Aaa p.E1470K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1470 DHR-2. 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) CAAGGAGAATGAATTCAAGGT 0.488000 11 25 0 0 0.000673444 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003966 34003966 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:34003966C>T ENST00000382491.3 - 28 4044 c.3920G>A c.(3919-3921)aGg>aAg p.R1307K SYNJ1_ENST00000433931.2_Missense_Mutation_p.R1393K|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R1354K|SYNJ1_ENST00000382499.2_3'UTR NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1354 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 CTGAATCAACCTCTTTGGGTC 0.448000 10 58 0 0 0.000673444 0 0 DUOX1 53905 broad.mit.edu 37 15 45440112 45440112 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:45440112G>A ENST00000321429.4 + 21 2966 c.2559G>A c.(2557-2559)gaG>gaA p.E853E DUOX1_ENST00000561166.1_Silent_p.E499E|DUOX1_ENST00000389037.3_Silent_p.E853E NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 853 EF-hand 2. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GCTCTCCTGAGGAAAAGTCTC 0.557000 24 80 0 0 0.001512 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6426513 6426513 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:6426513G>A ENST00000449001.2 + 7 1199 c.705G>A c.(703-705)gtG>gtA p.V235V PLEKHG6_ENST00000536531.1_Silent_p.V267V|PLEKHG6_ENST00000011684.7_Silent_p.V267V|PLEKHG6_ENST00000396988.3_Silent_p.V267V NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 267 DH. regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 GCCTCCGAGTGAAGCAGACCA 0.597000 12 37 0 0 0.000308642 0 0 HTT 3064 broad.mit.edu 37 4 3176451 3176451 + Missense_Mutation SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:3176451G>C ENST00000355072.5 + 32 4315 c.4170G>C c.(4168-4170)tgG>tgC p.W1390C NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1390 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TTGGCAGATGGTTTGATGTCC 0.418000 15 74 0 0 0.000308642 0 0 FLG 2312 broad.mit.edu 37 1 152277644 152277644 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:152277644G>A ENST00000368799.1 - 3 9753 c.9718C>T c.(9718-9720)Cgt>Tgt p.R3240C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3240 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) ACAGATCCACGATGGTTTCTG 0.592000 Ichthyosis 50 111 0 0 0.000781405 0 0 FLNC 2318 broad.mit.edu 37 7 128483361 128483361 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:128483361C>T ENST00000325888.8 + 17 2890 c.2629C>T c.(2629-2631)Ctg>Ttg p.L877L FLNC_ENST00000346177.6_Silent_p.L877L NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 877 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 GGGCCCTGGGCTGAATCGCAC 0.642000 11 15 0 0 0.000978159 0 0 ALKBH1 8846 broad.mit.edu 37 14 78142163 78142163 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:78142163G>A ENST00000216489.3 - 5 591 c.576C>T c.(574-576)ttC>ttT p.F192F NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 192 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) GGTCAGAAGGGAAAGGTGTGT 0.418000 8 43 0 0 0.000274275 0 0 CSF1R 1436 broad.mit.edu 37 5 149449570 149449570 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:149449570C>T ENST00000286301.3 - 10 1667 c.1376G>A c.(1375-1377)aGc>aAc p.S459N NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 459 Ig-like C2-type 5. 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) GGGCTCCTGGCTCAGGACCTC 0.592000 10 54 0 0 0.00185496 0 0 PDGFC 56034 broad.mit.edu 37 4 157689065 157689065 + Missense_Mutation SNP C C T rs141820181 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:157689065C>T ENST00000502773.1 - 5 1271 c.781G>A c.(781-783)Gaa>Aaa p.E261K PDGFC_ENST00000541126.1_Missense_Mutation_p.E98K|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Missense_Mutation_p.E106K|PDGFC_ENST00000504672.1_Intron NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 261 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity p.E261K(1) central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) TTTAGTTCTTCCCTTATGGAC 0.438000 12 56 0 0 0.00136819 0 0 BCAN 63827 broad.mit.edu 37 1 156622571 156622571 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:156622571C>T ENST00000329117.4 + 8 2165 c.1829C>T c.(1828-1830)cCc>cTc p.P610L RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.P610L NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 610 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGGAGGCCCCCTCTGAAGAT 0.662000 9 27 0 0 0.000274275 0 0 PTPRC 5788 broad.mit.edu 37 1 198665949 198665949 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:198665949C>T ENST00000367376.2 + 4 374 c.203C>T c.(202-204)tCa>tTa p.S68L PTPRC_ENST00000442510.2_Missense_Mutation_p.S70L|PTPRC_ENST00000352140.3_Missense_Mutation_p.S68L|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000348564.6_Intron NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 68 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AATGACTTCTCAGAGACCACA 0.463000 12 72 0 0 0.00185496 0 0 RHEB 6009 broad.mit.edu 37 7 151167708 151167708 + Missense_Mutation SNP C C G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:151167708C>G ENST00000262187.5 - 7 823 c.411G>C c.(409-411)ttG>ttC p.L137F RHEB_ENST00000496004.1_Missense_Mutation_p.L32F|RHEB_ENST00000472642.1_Missense_Mutation_p.L32F NM_005614.3 NP_005605.1 Q15382 RHEB_HUMAN Ras homolog enriched in brain 137 cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|metal ion binding|protein binding p.L137F(1) breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7) 14 OV - Ovarian serous cystadenocarcinoma(82;0.00306) UCEC - Uterine corpus endometrioid carcinoma (81;0.174) AAGATTCTGCCAAAGCTTTCC 0.318000 10 86 0 0 0.000673444 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6529184 6529184 + Missense_Mutation SNP C C T rs113541584 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:6529184C>T ENST00000377748.1 - 20 2895 c.2398G>A c.(2398-2400)Gaa>Aaa p.E800K PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E792K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E802K|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E800K|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E723K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E760K|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E723K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E723K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E723K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E723K|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E779K|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E723K NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 779 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) tcctcgccttcctcctcctcc 0.637000 31 57 0 0 0.001512 0 0 TTN 7273 broad.mit.edu 37 2 179596173 179596173 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179596173C>T ENST00000589042.1 - 59 17544 c.17320G>A c.(17320-17322)Gat>Aat p.D5774N TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4530N|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5457N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5457 Ig-like 38. 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) CTTATATTATCGTCTTCAGTG 0.478000 22 47 0 0 0.00152264 0 0 MKRN3 7681 broad.mit.edu 37 15 23811677 23811677 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:23811677G>A ENST00000314520.3 + 1 1224 c.748G>A c.(748-750)Gga>Aga p.G250R MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 250 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TGCTTCCAGGGGAGTTTGCTT 0.567000 10 38 0 0 0.000978159 0 0 NFXL1 152518 broad.mit.edu 37 4 47901422 47901422 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:47901422G>A ENST00000507489.1 - 6 967 c.791C>T c.(790-792)cCt>cTt p.P264L NFXL1_ENST00000329043.3_Missense_Mutation_p.P264L|NFXL1_ENST00000381538.3_Missense_Mutation_p.P264L NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 264 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 ATGGCCACAAGGAGGTTTAAA 0.378000 16 41 0 0 0.00121646 0 0 GPR158 57512 broad.mit.edu 37 10 25887483 25887483 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:25887483G>A ENST00000376351.3 + 11 3287 c.2928G>A c.(2926-2928)atG>atA p.M976I GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 976 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CTGGGATTATGAAACAACAAA 0.488000 16 71 0 0 0.000308642 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6859837 6859837 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:6859837C>T ENST00000419673.2 + 4 407 c.190C>T c.(190-192)Ctg>Ttg p.L64L ARHGAP28_ENST00000383472.4_Silent_p.L223L|ARHGAP28_ENST00000532996.1_Silent_p.L46L|ARHGAP28_ENST00000400091.2_Silent_p.L223L|ARHGAP28_ENST00000314319.3_Silent_p.L64L|ARHGAP28_ENST00000531294.1_Silent_p.L59L|ARHGAP28_ENST00000418986.1_Silent_p.L64L|ARHGAP28_ENST00000262227.3_Silent_p.L171L NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 46 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) CAGTACTACCCTGTCTGACGC 0.428000 27 175 0 0 0.001512 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926695 157926695 + Silent SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:157926695G>T ENST00000389413.3 - 9 1333 c.1230C>A c.(1228-1230)ctC>ctA p.L410L PTPRN2_ENST00000404321.2_Silent_p.L433L|PTPRN2_ENST00000389416.4_Silent_p.L393L|PTPRN2_ENST00000389418.4_Silent_p.L410L|PTPRN2_ENST00000409483.1_Silent_p.L372L NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 410 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) CTCCAGGTAAGAGTCGAGACC 0.602000 8 65 1.26484e-09 5.66507e-09 0.000157383 1 0 TCEB3B 51224 broad.mit.edu 37 18 44559713 44559713 + Missense_Mutation SNP C C T rs143582553 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:44559713C>T ENST00000332567.4 - 1 2275 c.1923G>A c.(1921-1923)atG>atA p.M641I KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 641 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TGAAACAGATCATCTTTGCCT 0.537000 19 171 0 0 0.000375601 0 0 MGA 23269 broad.mit.edu 37 15 42057156 42057156 + Missense_Mutation SNP C C T rs35259215 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:42057156C>T ENST00000219905.7 + 23 7998 c.7817C>T c.(7816-7818)aCc>aTc p.T2606I MGA_ENST00000545763.1_Missense_Mutation_p.T2397I|MGA_ENST00000566586.1_Missense_Mutation_p.T2397I|MGA_ENST00000389936.4_Missense_Mutation_p.T2567I|MGA_ENST00000570161.1_Missense_Mutation_p.T2606I NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2567 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CAATTGCTCACCCTAAAAGGT 0.458000 19 90 0 0 0.00074312 0 0 IGKV2D-29 28882 broad.mit.edu 37 2 89987019 89987019 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:89987019C>T ENST00000491977.1 + 0 330 CACTGAAAATCAGCCGGGTGG 0.517000 6 57 0 0 0.000274275 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939637 12939637 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:12939637C>T ENST00000235349.5 - 4 1235 c.1165G>A c.(1165-1167)Gga>Aga p.G389R NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 389 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATGGGATTTCCACAGAAGCTG 0.527000 63 279 0 0 0.000781405 0 0 LUM 4060 broad.mit.edu 37 12 91502681 91502681 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:91502681G>A ENST00000266718.4 - 2 530 c.76C>T c.(76-78)Ccc>Tcc p.P26S LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 26 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 ATTGATAGGGGAAAATCATAA 0.413000 13 27 0 0 0.00185496 0 0 TRIM71 131405 broad.mit.edu 37 3 32932358 32932358 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:32932358C>T ENST00000383763.4 + 4 1725 c.1662C>T c.(1660-1662)ccC>ccT p.P554P NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 554 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 GTTACCGACCCCAGCTGGAGG 0.577000 19 44 0 0 0.00121646 0 0 KCNN4 3783 broad.mit.edu 37 19 44278600 44278600 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:44278600C>T ENST00000262888.3 - 3 822 c.427G>A c.(427-429)Gga>Aga p.G143R NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 143 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) CCCAGGAATCCCGGCCAGGGC 0.731000 OREG0025535 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 1 0 0 0.00024832 0 0 CEACAM19 56971 broad.mit.edu 37 19 45175243 45175243 + Missense_Mutation SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:45175243A>C ENST00000358777.4 + 1 520 c.40A>C c.(40-42)Agc>Cgc p.S14R CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000403660.3_Missense_Mutation_p.S14R NM_001127893.1|NM_020219.3 NP_001121365.1|NP_064604.2 Q7Z692 CEA19_HUMAN carcinoembryonic antigen-related cell adhesion molecule 19 14 integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 11 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) CTTCTCAAAGAGCCTCCTGCT 0.547000 27 58 0 0 0.00209593 0 0 HRSP12 10247 broad.mit.edu 37 8 99120894 99120894 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:99120894C>A ENST00000254878.3 - 2 295 c.151G>T c.(151-153)Gta>Tta p.V51L NM_005836.2 NP_005827.1 P52758 UK114_HUMAN heat-responsive protein 12 51 regulation of translational termination nucleus endonuclease activity large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1) 6 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) TCTTCTGCTACCCCTCCTGAC 0.403000 18 82 1.28384e-07 5.73471e-07 0.00188189 1 0 KCNS1 3787 broad.mit.edu 37 20 43723895 43723895 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:43723895C>T ENST00000306117.1 - 5 1593 c.1197G>A c.(1195-1197)aaG>aaA p.K399K KCNS1_ENST00000537075.1_Silent_p.K399K NM_002251.3 NP_002242.2 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 399 voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) CGTCCTCCTCCTTTTCAGCTG 0.582000 12 34 0 0 0.00185496 0 0 NTM 50863 broad.mit.edu 37 11 132016308 132016308 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:132016308C>T ENST00000374786.1 + 2 779 c.300C>T c.(298-300)atC>atT p.I100I NTM_ENST00000374791.3_Silent_p.I100I|NTM_ENST00000539799.1_Silent_p.I100I|NTM_ENST00000374784.1_Silent_p.I100I|NTM_ENST00000425719.2_Silent_p.I100I|NTM_ENST00000427481.2_Silent_p.I91I NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 100 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 AGTACAGCATCGAGATCCAGA 0.557000 13 30 0 0 0.00136819 0 0 REST 5978 broad.mit.edu 37 4 57797279 57797279 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:57797279C>T ENST00000309042.7 + 4 2569 c.2255C>T c.(2254-2256)cCc>cTc p.P752L NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 752 Pro-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) CTGTCTCCTCCCATGGAGGTG 0.557000 49 250 0 0 0.000781405 0 0 GATA4 2626 broad.mit.edu 37 8 11615832 11615832 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:11615832G>A ENST00000335135.4 + 7 1735 c.1177G>A c.(1177-1179)Ggg>Agg p.G393R GATA4_ENST00000532059.1_Missense_Mutation_p.G394R|GATA4_ENST00000528712.1_Missense_Mutation_p.G187R NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 393 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) GTCTGGCCATGGGCCCTCCAT 0.612000 24 138 0 0 0.000878237 0 0 FAM114A1 92689 broad.mit.edu 37 4 38942609 38942609 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:38942609C>T ENST00000358869.2 + 14 1733 c.1557C>T c.(1555-1557)gtC>gtT p.V519V FAM114A1_ENST00000515037.1_Silent_p.V312V NM_138389.2 NP_612398.2 Q8IWE2 NXP20_HUMAN family with sequence similarity 114, member A1 519 cytoplasm haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 AGGCCGAGGTCCTTAACCCCA 0.388000 13 55 0 0 0.000566183 0 0 CLCN1 1180 broad.mit.edu 37 7 143028350 143028350 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:143028350C>T ENST00000343257.2 + 9 1092 c.1005C>T c.(1003-1005)acC>acT p.T335T NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 335 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TGTTCAGAACCAATTTCCGAA 0.507000 16 91 0 0 0.00121646 0 0 OR2A25 392138 broad.mit.edu 37 7 143771857 143771857 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:143771857C>T ENST00000408898.2 + 1 583 c.545C>T c.(544-546)gCt>gTt p.A182V NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 182 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) GAAATTATGGCTGTTCTCAAA 0.448000 24 148 0 0 0.000586117 0 0 MUC17 140453 broad.mit.edu 37 7 100681473 100681473 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:100681473C>T ENST00000306151.4 + 3 6840 c.6776C>T c.(6775-6777)tCa>tTa p.S2259L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2259 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) GAAGCCACTTCATCTCCTACA 0.507000 32 171 0 0 0.00111076 0 0 ADAD2 161931 broad.mit.edu 37 16 84224894 84224894 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:84224894G>A ENST00000268624.3 + 1 151 c.58G>A c.(58-60)Gct>Act p.A20T ADAD2_ENST00000567413.1_3'UTR|ADAD2_ENST00000315906.5_Missense_Mutation_p.A20T NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 20 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 GCCCCGCCTGGCTGCATCGTT 0.711000 16 13 0 0 0.000958276 0 0 HSPB7 27129 broad.mit.edu 37 1 16342200 16342200 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:16342200C>T ENST00000311890.9 - 3 1214 c.388G>A c.(388-390)Gag>Aag p.E130K HSPB7_ENST00000375718.4_Missense_Mutation_p.E205K|HSPB7_ENST00000487046.1_Missense_Mutation_p.E135K|HSPB7_ENST00000406363.2_Missense_Mutation_p.E134K|HSPB7_ENST00000411503.1_Missense_Mutation_p.E125K NM_014424.4 NP_055239.1 Q9UBY9 HSPB7_HUMAN heat shock 27kDa protein family, member 7 (cardiovascular) 130 regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1) 10 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;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) TCCACGTCCTCCGGCAGCTGG 0.677000 24 106 0 0 0.00106085 0 0 OR10G8 219869 broad.mit.edu 37 11 123901097 123901097 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:123901097C>T ENST00000431524.1 + 1 801 c.768C>T c.(766-768)ttC>ttT p.F256F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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) CTGGTCTTTTCATTTACCTGA 0.557000 14 29 0 0 0.000308642 0 0 ITGAD 3681 broad.mit.edu 37 16 31421715 31421715 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:31421715G>A ENST00000389202.2 + 11 1132 c.e11-1 NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity 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 TTTCCTCCCAGGATGGCCTCT 0.577000 23 59 0 0 0.000586117 0 0 GAD2 2572 broad.mit.edu 37 10 26558051 26558051 + Silent SNP G G A rs149629039 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:26558051G>A ENST00000376261.3 + 9 1427 c.924G>A c.(922-924)ggG>ggA p.G308G GAD2_ENST00000259271.3_Silent_p.G308G NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 308 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) CTTCCAGAGGGAAAATGATTC 0.403000 9 71 0 0 0.000673444 0 0 FAM131B 9715 broad.mit.edu 37 7 143053666 143053666 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:143053666C>T ENST00000409408.1 - 6 2684 c.976G>A c.(976-978)Gag>Aag p.E326K FAM131B_ENST00000409578.1_Missense_Mutation_p.E342K|FAM131B_ENST00000409346.1_Missense_Mutation_p.E326K|FAM131B_ENST00000443739.2_Missense_Mutation_p.E354K|FAM131B_ENST00000409222.3_Missense_Mutation_p.E326K Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 326 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) TCGCCTTCCTCCTCATCAAAG 0.597000 18 98 0 0 0.00121646 0 0 EBF2 64641 broad.mit.edu 37 8 25715986 25715986 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:25715986C>T ENST00000520164.1 - 14 1914 c.1377G>A c.(1375-1377)cgG>cgA p.R459R EBF2_ENST00000535548.1_Silent_p.R190R|EBF2_ENST00000408929.3_Silent_p.R311R NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 459 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding 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) AAGAGTATCCCCGCGGAGAGA 0.522000 10 55 0 0 0.000978159 0 0 TNFSF4 7292 broad.mit.edu 37 1 173155778 173155778 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:173155778C>T ENST00000281834.3 - 3 565 c.429G>A c.(427-429)ctG>ctA p.L143L TNFSF4_ENST00000367718.1_Silent_p.L93L NM_003326.3 NP_003317.1 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, member 4 143 acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 12 CTTTGTAAGTCAGAGAGGCCA 0.463000 7 61 0 0 0.000274275 0 0 TPH1 7166 broad.mit.edu 37 11 18047216 18047216 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:18047216G>A ENST00000250018.2 - 7 1398 c.836C>T c.(835-837)cCg>cTg p.P279L TPH1_ENST00000341556.2_Missense_Mutation_p.P279L NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 279 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) AGCCAAAAGCGGGACATGACC 0.443000 21 41 0 0 0.00188189 0 0 TRPC3 7222 broad.mit.edu 37 4 122846228 122846228 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:122846228C>T ENST00000264811.5 - 2 1320 c.902G>A c.(901-903)aGg>aAg p.R301K TRPC3_ENST00000379645.3_Missense_Mutation_p.R374K|TRPC3_ENST00000513531.1_Missense_Mutation_p.R301K NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 289 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 AGCTTTGTGCCTGTGTACCTC 0.448000 40 143 0 0 0.000781405 0 0 HMBOX1 79618 broad.mit.edu 37 8 28866603 28866603 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:28866603C>T ENST00000397358.3 + 6 1305 c.601C>T c.(601-603)Cgg>Tgg p.R201W HMBOX1_ENST00000519047.1_Missense_Mutation_p.R201W|HMBOX1_ENST00000558662.1_Missense_Mutation_p.R201W|HMBOX1_ENST00000524238.1_Missense_Mutation_p.R201W|HMBOX1_ENST00000355231.5_Missense_Mutation_p.R201W|HMBOX1_ENST00000523613.1_Missense_Mutation_p.R201W|HMBOX1_ENST00000403668.2_Missense_Mutation_p.R201W|HMBOX1_ENST00000444075.1_Missense_Mutation_p.R201W|HMBOX1_ENST00000287701.10_Missense_Mutation_p.R201W NM_024567.3 NP_078843.2 Q6NT76 HMBX1_HUMAN homeobox containing 1 201 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 11 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) CAGTCAGAGCCGGATCTCTCA 0.423000 21 108 0 0 0.00229938 0 0 PLA2G6 8398 broad.mit.edu 37 22 38536077 38536077 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:38536077G>A ENST00000332509.3 - 5 892 c.709C>T c.(709-711)Cgc>Tgc p.R237C PLA2G6_ENST00000402064.1_Missense_Mutation_p.R237C|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R237C NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 237 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) AGCAGCACGCGGACCATCTCC 0.612000 11 41 0 0 0.000978159 0 0 PAQR7 164091 broad.mit.edu 37 1 26189516 26189516 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:26189516C>T ENST00000374296.3 - 2 1481 c.815G>A c.(814-816)gGg>gAg p.G272E RP1-125I3.2_ENST00000455431.1_RNA NM_178422.5 NP_848509.1 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 272 G -> R (in dbSNP:rs6689014). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) GTGGCCCTGCCCGAAGACATG 0.592000 24 60 0 0 0.000375601 0 0 HK3 3101 broad.mit.edu 37 5 176316426 176316426 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:176316426G>A ENST00000292432.5 - 8 961 c.870C>T c.(868-870)ttC>ttT p.F290F NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 290 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|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) GGGTATGGTCGAAGGTGGTCA 0.632000 14 55 0 0 0.00074312 0 0 HMGN1 3150 broad.mit.edu 37 21 40715008 40715008 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:40715008G>A ENST00000361263.4 - 3 905 c.224C>T c.(223-225)cCc>cTc p.P75L HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380748.1_3'UTR|HMGN1_ENST00000380749.5_3'UTR|HMGN1_ENST00000380747.1_3'UTR P05114 HMGN1_HUMAN high mobility group nucleosome binding domain 1 0 positive regulation of transcription elongation, DNA-dependent chromatin|cytoplasm|nucleus DNA binding breast(2)|lung(1) 3 Prostate(19;8.69e-07) AGGGAGACAGGGACCACTGAT 0.368000 10 29 0 0 0.000442599 0 0 SLAMF9 89886 broad.mit.edu 37 1 159922179 159922179 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:159922179G>A ENST00000368093.3 - 3 653 c.537C>T c.(535-537)ttC>ttT p.F179F SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 179 Ig-like C2-type. integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGCCTTCATGGAATGTATAAG 0.587000 11 75 0 0 0.00185496 0 0 TNRC6C 57690 broad.mit.edu 37 17 76046866 76046866 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:76046866C>T ENST00000335749.4 + 3 2292 c.1723C>T c.(1723-1725)Cca>Tca p.P575S TNRC6C_ENST00000588061.1_Missense_Mutation_p.P575S|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P575S|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P575S|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P575S|TNRC6C_ENST00000541771.1_Missense_Mutation_p.P575S NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 575 Sufficient for interaction with argonaute family proteins. 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) GGGTGAGCCTCCAAAGCCCAA 0.557000 13 27 0 0 0.00185496 0 0 ARPP21 10777 broad.mit.edu 37 3 35781015 35781015 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:35781015C>T ENST00000187397.4 + 17 2307 c.1851C>T c.(1849-1851)gtC>gtT p.V617V ARPP21_ENST00000337271.5_Silent_p.V598V|ARPP21_ENST00000417925.1_Silent_p.V618V|ARPP21_ENST00000458225.1_Silent_p.V618V|ARPP21_ENST00000444190.1_Silent_p.V598V NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 617 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 CCCAGCAGGTCCTCCAGCCCC 0.602000 10 41 0 0 0.000978159 0 0 OR14C36 127066 broad.mit.edu 37 1 248512475 248512475 + Silent SNP C C T rs150366522 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:248512475C>T ENST00000317861.1 + 1 399 c.399C>T c.(397-399)atC>atT p.I133I NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 ACCCTGTGATCGTGAACTCTC 0.507000 15 33 0 0 0.000308642 0 0 ALG6 29929 broad.mit.edu 37 1 63862189 63862189 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:63862189G>T ENST00000371108.4 + 3 393 c.88G>T c.(88-90)Ggt>Tgt p.G30C ALG6_ENST00000263440.4_Missense_Mutation_p.G30C NM_013339.3 NP_037471.2 Q9Y672 ALG6_HUMAN ALG6, alpha-1,3-glucosyltransferase 30 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CTTAGGTGCTGGTAAACCGCC 0.328000 9 143 2.17888e-05 9.70296e-05 0.000442599 1 0 ANKRD1 27063 broad.mit.edu 37 10 92677504 92677504 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:92677504G>A ENST00000371697.3 - 5 785 c.537C>T c.(535-537)atC>atT p.I179I NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) 179 cellular lipid metabolic process|defense response|signal transduction DNA binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) CACGGAATTCGATCTGGGCTC 0.418000 14 36 0 0 0.000308642 0 0 PPAP2B 8613 broad.mit.edu 37 1 56990026 56990026 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:56990026G>A ENST00000371250.3 - 3 1049 c.498C>T c.(496-498)ttC>ttT p.F166F NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 166 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 TGATCTGGCTGAAATCAGGGT 0.527000 41 91 0 0 0.000680045 0 0 STIL 6491 broad.mit.edu 37 1 47716973 47716973 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:47716973C>T ENST00000360380.3 - 18 4062 c.3699G>A c.(3697-3699)ggG>ggA p.G1233G STIL_ENST00000396221.2_Silent_p.G1216G|STIL_ENST00000243182.6_Silent_p.G1233G|STIL_ENST00000337817.5_Silent_p.G1233G|STIL_ENST00000371877.3_Silent_p.G1234G Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 1233 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) ACTCTGCTTTCCCGGTTCGAA 0.398000 80 154 0 0 0.000781405 0 0 F7 2155 broad.mit.edu 37 13 113772738 113772738 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:113772738C>T ENST00000375581.3 + 9 852 c.817C>T c.(817-819)Ctc>Ttc p.L273F F7_ENST00000541084.1_Missense_Mutation_p.L204F|F7_ENST00000346342.3_Missense_Mutation_p.L251F NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 273 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 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) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) CGAGCACGACCTCAGCGAGCA 0.662000 16 58 0 0 0.000958276 0 0 MINK1 50488 broad.mit.edu 37 17 4797353 4797353 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:4797353C>T ENST00000355280.6 + 22 2831 c.2635C>T c.(2635-2637)Ccc>Tcc p.P879S MINK1_ENST00000453408.3_Missense_Mutation_p.P859S|MINK1_ENST00000347992.7_Missense_Mutation_p.P850S NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 879 Mediates interaction with RAP2A. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CGGGACCCAGCCCCCATACGG 0.667000 9 10 0 0 0.000274275 0 0 PRUNE 58497 broad.mit.edu 37 1 151006643 151006643 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:151006643C>T ENST00000271620.3 + 8 1451 c.1295C>T c.(1294-1296)gCc>gTc p.A432V PRUNE_ENST00000368935.1_Missense_Mutation_p.A147V|PRUNE_ENST00000368936.1_Missense_Mutation_p.A250V|PRUNE_ENST00000368937.1_Missense_Mutation_p.A197V|PRUNE_ENST00000368934.1_Missense_Mutation_p.A197V|PRUNE_ENST00000271619.8_Missense_Mutation_p.A220V NM_021222.1 NP_067045.1 Q86TP1 PRUNE_HUMAN prune exopolyphosphatase 432 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCTGCTGAGGCCGTCTTCGAG 0.577000 28 140 0 0 0.000491102 0 0 SZT2 23334 broad.mit.edu 37 1 43882302 43882302 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:43882302C>T ENST00000562955.1 + 7 869 c.869C>T c.(868-870)tCc>tTc p.S290F NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 290 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GTGGCTTGTTCCTTTGTCCAG 0.488000 5 18 0 0 0.000602214 0 0 FTCD 10841 broad.mit.edu 37 21 47570436 47570436 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:47570436C>T ENST00000397748.1 - 6 683 c.640G>A c.(640-642)Gga>Aga p.G214R FTCD_ENST00000397746.3_Missense_Mutation_p.G214R|FTCD_ENST00000291670.5_Missense_Mutation_p.G214R|FTCD_ENST00000397743.1_Missense_Mutation_p.G214R|FTCD_ENST00000359679.2_Missense_Mutation_p.G214R|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Missense_Mutation_p.G214R O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 214 Formiminotransferase C-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TTCAGACGTCCTGGCTGCAAA 0.582000 22 87 0 0 0.00188189 0 0 CATSPERB 79820 broad.mit.edu 37 14 92157875 92157875 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:92157875A>T ENST00000256343.3 - 10 1012 c.856T>A c.(856-858)Ttt>Att p.F286I NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 286 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) ACCCTTTCAAAACCACAAAAG 0.328000 45 167 0 0 0.000781405 0 0 DICER1 23405 broad.mit.edu 37 14 95570042 95570042 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:95570042G>A ENST00000526495.1 - 23 3982 c.3691C>T c.(3691-3693)Ccc>Tcc p.P1231S DICER1_ENST00000556045.1_Missense_Mutation_p.P129S|DICER1_ENST00000393063.1_Missense_Mutation_p.P1231S|DICER1_ENST00000527414.1_Missense_Mutation_p.P1231S|DICER1_ENST00000343455.3_Missense_Mutation_p.P1231S|DICER1_ENST00000541352.1_Missense_Mutation_p.P1231S Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1231 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TCATCGCTGGGCTGGGGCTGG 0.433000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 10 45 0 0 0.00185496 0 0 PDE4A 5141 broad.mit.edu 37 19 10561537 10561537 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:10561537C>T ENST00000380702.2 + 7 637 c.637C>T c.(637-639)Ctg>Ttg p.L213L PDE4A_ENST00000352831.6_Silent_p.L235L|PDE4A_ENST00000293683.5_Silent_p.L209L|PDE4A_ENST00000440014.2_Silent_p.L174L|PDE4A_ENST00000592685.1_Silent_p.L213L P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 235 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) CCGGGAGACTCTGGAGGAGCT 0.602000 9 28 0 0 0.00136819 0 0 KIRREL2 84063 broad.mit.edu 37 19 36357106 36357106 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:36357106G>A ENST00000360202.5 + 15 2037 c.1839G>A c.(1837-1839)ctG>ctA p.L613L KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.L578L|KIRREL2_ENST00000586102.2_Silent_p.L593L|KIRREL2_ENST00000262625.7_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 613 cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GTGTGAGCCTGAGCCTTGGCG 0.607000 24 56 0 0 0.000586117 0 0 F8 2157 broad.mit.edu 37 X 154133271 154133271 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:154133271G>A ENST00000360256.4 - 16 5601 c.5401C>T c.(5401-5403)Ccc>Tcc p.P1801S NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1801 F5/8 type A 3.|Plastocyanin-like 5. P -> A (in HEMA; mild). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAGGAATAGGGACGAGAGGCC 0.363000 12 21 0 0 0.000978159 0 0 ZNF337 26152 broad.mit.edu 37 20 25656528 25656528 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:25656528C>T ENST00000376436.1 - 4 1935 c.1396G>A c.(1396-1398)Gga>Aga p.G466R RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.G466R|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.G434R zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AAGCCTCGTCCACAGTCCTTG 0.473000 21 92 0 0 0.00047179 0 0 NLRX1 79671 broad.mit.edu 37 11 119054017 119054017 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:119054017C>T ENST00000409109.1 + 10 3384 c.2797C>T c.(2797-2799)Ctt>Ttt p.L933F NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000409991.1_Missense_Mutation_p.L933F|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Missense_Mutation_p.L933F Q86UT6 NLRX1_HUMAN NLR family member X1 933 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TCAGCGACACCTTGAGCTCCT 0.617000 23 52 0 0 0.000720815 0 0 DNMT3B 1789 broad.mit.edu 37 20 31386272 31386272 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:31386272C>T ENST00000328111.2 + 15 1818 c.1497C>T c.(1495-1497)ttC>ttT p.F499F DNMT3B_ENST00000201963.3_Silent_p.F491F|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Silent_p.F479F|DNMT3B_ENST00000353855.2_Silent_p.F479F|DNMT3B_ENST00000456297.2_Silent_p.F403F|DNMT3B_ENST00000348286.2_Silent_p.F479F|DNMT3B_ENST00000443239.3_Silent_p.F437F NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 499 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCAGGTGTTTCTGTGTGGAGT 0.622000 11 49 0 0 0.00185496 0 0 KRT2 3849 broad.mit.edu 37 12 53044244 53044244 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:53044244G>A ENST00000309680.3 - 2 700 c.679C>T c.(679-681)Ccc>Tcc p.P227S NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 227 Linker 1.|Rod. 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) TGGAAGATGGGCTCCAGGTTG 0.502000 43 78 0 0 0.000781405 0 0 CD209 30835 broad.mit.edu 37 19 7810924 7810924 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:7810924C>T ENST00000315599.7 - 4 250 c.228G>A c.(226-228)gcG>gcA p.A76A CD209_ENST00000394173.4_Silent_p.A76A|CD209_ENST00000593660.1_Silent_p.A52A|CD209_ENST00000204801.8_Silent_p.A32A|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Silent_p.A32A|CD209_ENST00000354397.6_Silent_p.A76A|CD209_ENST00000601951.1_Silent_p.A52A|CD209_ENST00000602261.1_Silent_p.A76A|CD209_ENST00000315591.8_Silent_p.A52A|CD209_ENST00000601256.1_Silent_p.A52A|CD209_ENST00000301357.8_Silent_p.A32A NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 76 cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCTGGTAGATCGCGTCTTGCC 0.512000 46 141 0 0 0.000781405 0 0 ADCY10 55811 broad.mit.edu 37 1 167780031 167780031 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:167780031C>T ENST00000367848.1 - 32 4823 c.4326G>A c.(4324-4326)ctG>ctA p.L1442L ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Silent_p.L1381L|ADCY10_ENST00000367851.4_Silent_p.L1534L Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1534 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AGGCTGTGTTCAGGAAGAGGC 0.488000 21 41 0 0 0.000878237 0 0 DSC1 1823 broad.mit.edu 37 18 28711568 28711568 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:28711568G>A ENST00000257197.3 - 15 2737 c.2476C>T c.(2476-2478)Cgg>Tgg p.R826W RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.R826W|RP11-408H20.3_ENST00000582307.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 826 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TCGCCAAGCCGAGGTTGGGTG 0.458000 6 51 0 0 0.00116845 0 0 DUSP27 92235 broad.mit.edu 37 1 167097730 167097730 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:167097730G>A ENST00000361200.2 + 6 3528 c.3362G>A c.(3361-3363)cGg>cAg p.R1121Q DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121Q Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1121 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TCCCAGTATCGGAGAAGCACT 0.512000 13 21 0 0 0.00185496 0 0 UGT1A8 54576 broad.mit.edu 37 2 234526903 234526903 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:234526903C>T ENST00000373450.4 + 1 613 c.550C>T c.(550-552)Cct>Tct p.P184S NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 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;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TGCACAGTGCCCTGCTCCTCT 0.493000 47 101 0 0 0.000781405 0 0 TAB3 257397 broad.mit.edu 37 X 30871041 30871041 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:30871041G>A ENST00000378933.1 - 4 1741 c.1564C>T c.(1564-1566)Caa>Taa p.Q522* TAB3_ENST00000288422.2_Nonsense_Mutation_p.Q522*|TAB3_ENST00000378930.3_Nonsense_Mutation_p.Q522*|TAB3_ENST00000378932.2_Nonsense_Mutation_p.Q522* NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 522 activation of MAPK 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|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 CTTGCTCGTTGATGTAACAGC 0.403000 6 14 0 0 0.00198382 0 0 FRAS1 80144 broad.mit.edu 37 4 79458181 79458181 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:79458181C>T ENST00000264895.6 + 72 11565 c.11125C>T c.(11125-11127)Cca>Tca p.P3709S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3704 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACTTTGGAATCCAGAACAAAA 0.393000 17 91 0 0 0.00121646 0 0 PLCB1 23236 broad.mit.edu 37 20 8862337 8862337 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:8862337C>T ENST00000338037.6 + 32 3519 c.3492C>T c.(3490-3492)ttC>ttT p.F1164F PLCB1_ENST00000378641.3_3'UTR NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1164 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TTTTGGAATTCGTGCAGGAAG 0.493000 54 132 0 0 0.000781405 0 0 SH3RF2 153769 broad.mit.edu 37 5 145317495 145317495 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:145317495G>A ENST00000511217.1 + 1 56 c.4G>A c.(4-6)Gat>Aat p.D2N SH3RF2_ENST00000359120.4_Missense_Mutation_p.D2N Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 2 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAATAAAATGGATGATTTGAC 0.522000 18 82 0 0 0.00229938 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862824 10862824 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:10862824C>T ENST00000559480.1 + 0 120 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TGAAGGTCTCCTGCAAGGCTT 0.577000 12 101 0 0 0.00185496 0 0 LEPRE1 64175 broad.mit.edu 37 1 43212485 43212485 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:43212485G>A ENST00000296388.5 - 15 2145 c.2094C>T c.(2092-2094)ttC>ttT p.F698F LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_3'UTR|LEPRE1_ENST00000236040.4_3'UTR Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 698 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix 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-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CTTCTGGGCTGAAGAGCATCT 0.597000 5 15 0 0 0.000602214 0 0 IL22 50616 broad.mit.edu 37 12 68646579 68646579 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:68646579G>A ENST00000538666.1 - 3 287 c.217C>T c.(217-219)Cgt>Tgt p.R73C IL22_ENST00000328087.4_Missense_Mutation_p.R73C Q9GZX6 IL22_HUMAN interleukin 22 73 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding p.R73C(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 14 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) CCAATGAGACGAACGTCTGTG 0.463000 30 53 0 0 0.00058488 0 0 SEMA5B 54437 broad.mit.edu 37 3 122629685 122629685 + Splice_Site SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:122629685A>C ENST00000195173.4 - 22 3726 c.e22+1 SEMA5B_ENST00000357599.3_Splice_Site|SEMA5B_ENST00000451055.2_Splice_Site Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) gaaGGCTCCCACCTTGAATTC 0.527000 7 47 0 0 0.000958276 0 0 UBE2F 140739 broad.mit.edu 37 2 238940868 238940868 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:238940868C>T ENST00000272930.4 + 8 611 c.417C>T c.(415-417)gtC>gtT p.V139V UBE2F_ENST00000409633.1_Silent_p.V139V|UBE2F_ENST00000414443.1_Silent_p.V107V|UBE2F_ENST00000409332.1_Silent_p.V117V|UBE2F_ENST00000409953.1_Silent_p.V115V|UBE2F-SCLY_ENST00000449191.1_Intron NM_001278305.1|NM_080678.2 NP_001265234.1|NP_542409.1 Q969M7 UBE2F_HUMAN ubiquitin-conjugating enzyme E2F (putative) 139 protein neddylation ATP binding|NEDD8 ligase activity|protein binding endometrium(1)|large_intestine(1) 2 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301) TTCAGGATGTCGTTTGGGGAT 0.338000 12 53 0 0 0.000219431 0 0 LIPJ 142910 broad.mit.edu 37 10 90362355 90362355 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:90362355C>T ENST00000371939.3 + 9 1060 c.746C>T c.(745-747)tCa>tTa p.S249L NM_001010939.2 NP_001010939.2 Q5W064 LIPJ_HUMAN lipase, family member J 249 lipid catabolic process hydrolase activity large_intestine(4)|lung(4)|ovary(1) 9 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) GTGTATTTTTCACACAACCCA 0.313000 9 48 0 0 0.000673444 0 0 EPS8L2 64787 broad.mit.edu 37 11 710470 710470 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:710470C>T ENST00000533256.1 + 5 524 c.149C>T c.(148-150)tCg>tTg p.S50L EPS8L2_ENST00000526198.1_Missense_Mutation_p.S50L|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S50L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.S50L Q9H6S3 ES8L2_HUMAN EPS8-like 2 50 PID. cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CACGAGACCTCGCAGTACCAC 0.617000 20 92 0 0 0.000375601 0 0 KRIT1 889 broad.mit.edu 37 7 91863814 91863814 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:91863814G>A ENST00000394507.1 - 11 1721 c.938C>T c.(937-939)tCa>tTa p.S313L KRIT1_ENST00000394503.2_Intron|KRIT1_ENST00000394505.2_Missense_Mutation_p.S313L|KRIT1_ENST00000412043.2_Missense_Mutation_p.S313L|KRIT1_ENST00000340022.2_Missense_Mutation_p.S313L NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 313 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTGGTTGACTGAAAATCTTTC 0.383000 21 79 0 0 0.000375601 0 0 RP1 6101 broad.mit.edu 37 8 55533787 55533787 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:55533787G>A ENST00000220676.1 + 2 409 c.261G>A c.(259-261)cgG>cgA p.R87R NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 87 Doublecortin 1. 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) GCACCCCTCGGGGCAGGCACA 0.592000 13 40 0 0 0.00136819 0 0 HECW1 23072 broad.mit.edu 37 7 43506080 43506080 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:43506080C>A ENST00000395891.1 + 15 3431 c.2826C>A c.(2824-2826)aaC>aaA p.N942K HECW1_ENST00000453890.1_Missense_Mutation_p.N908K NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 942 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 CTCCAGTGAACTCACAAAAAA 0.453000 28 55 2.4375e-19 1.09509e-18 0.00127121 1 0 NEB 4703 broad.mit.edu 37 2 152573980 152573980 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:152573980C>T ENST00000397345.3 - 10 974 c.772G>A c.(772-774)Gat>Aat p.D258N NEB_ENST00000172853.10_Missense_Mutation_p.D258N|NEB_ENST00000409198.1_Missense_Mutation_p.D258N|NEB_ENST00000603639.1_Missense_Mutation_p.D258N|NEB_ENST00000427231.2_Missense_Mutation_p.D258N|NEB_ENST00000604864.1_Missense_Mutation_p.D258N NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 258 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) TCTGGAGGATCAGCCAGAGGC 0.403000 7 51 0 0 0.000673444 0 0 SMG5 23381 broad.mit.edu 37 1 156228802 156228802 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:156228802G>A ENST00000361813.5 - 16 2580 c.2436C>T c.(2434-2436)ttC>ttT p.F812F SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 812 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) TCACCATTCGGAACTGTGCCT 0.607000 11 30 0 0 0.000219431 0 0 DNAI1 27019 broad.mit.edu 37 9 34501173 34501173 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:34501173G>A ENST00000242317.4 + 12 1228 c.1057G>A c.(1057-1059)Ggc>Agc p.G353S NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 353 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) AGTGGGATATGGCTCTTGTAA 0.403000 Kartagener syndrome 34 48 0 0 0.00111076 0 0 CYP19A1 1588 broad.mit.edu 37 15 51535086 51535086 + Silent SNP C C T rs143386224 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:51535086C>T ENST00000396402.1 - 2 177 c.24G>A c.(22-24)ccG>ccA p.P8P CYP19A1_ENST00000260433.2_Silent_p.P8P|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Silent_p.P8P|CYP19A1_ENST00000405913.3_Silent_p.P8P|CYP19A1_ENST00000559878.1_Silent_p.P8P|CYP19A1_ENST00000557858.1_Silent_p.P8P NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 8 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) TATAATGTATCGGGTTCAGCA 0.478000 26 100 0 0 0.0024448 0 0 UHRF1 29128 broad.mit.edu 37 19 4944405 4944405 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:4944405C>T ENST00000592666.1 + 0 1824 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) TCCCGTCCAACCACTACGGAC 0.667000 29 58 0 0 0.00209593 0 0 DENND3 22898 broad.mit.edu 37 8 142202474 142202474 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:142202474C>T ENST00000519811.1 + 21 3494 c.3424C>T c.(3424-3426)Cat>Tat p.H1142Y DENND3_ENST00000424248.1_Missense_Mutation_p.H1010Y|DENND3_ENST00000262585.2_Missense_Mutation_p.H1062Y|DENND3_ENST00000523308.1_Missense_Mutation_p.H112Y A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 1062 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) TGGATCCCTCCATCAAGAATT 0.522000 19 66 0 0 0.00121646 0 0 PLXNA4 91584 broad.mit.edu 37 7 131912289 131912289 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:131912289C>T ENST00000359827.3 - 7 2765 c.1803G>A c.(1801-1803)atG>atA p.M601I PLXNA4_ENST00000321063.4_Missense_Mutation_p.M601I Q9HCM2 PLXA4_HUMAN plexin A4 601 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 CCAGCCCATCCATCTCTGACA 0.607000 14 39 0 0 0.000422831 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718375 142718375 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:142718375C>T ENST00000381779.4 - 2 775 c.550G>A c.(550-552)Gat>Aat p.D184N SLITRK4_ENST00000356928.1_Missense_Mutation_p.D184N|SLITRK4_ENST00000338017.4_Missense_Mutation_p.D184N 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 4 184 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) CCTCGTATATCCAGATGGGTC 0.418000 18 27 0 0 0.000958276 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141130 143141130 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:143141130C>T ENST00000332690.1 + 1 585 c.585C>T c.(583-585)ttC>ttT p.F195F EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 195 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TCTATCTCTTCCCTCTAAAAA 0.423000 22 96 0 0 0.00047179 0 0 EMR3 84658 broad.mit.edu 37 19 14752363 14752363 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:14752363G>A ENST00000253673.5 - 10 1216 c.1116C>T c.(1114-1116)ctC>ctT p.L372L EMR3_ENST00000599900.1_Silent_p.L157L|EMR3_ENST00000443157.2_Silent_p.L246L|EMR3_ENST00000344373.4_Silent_p.L320L NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 372 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 GGGCCGCCAGGAGGAGGCACA 0.577000 9 44 0 0 0.000673444 0 0 PPAP2B 8613 broad.mit.edu 37 1 56977725 56977725 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:56977725G>A ENST00000371250.3 - 5 1284 c.733C>T c.(733-735)Cgc>Tgc p.R245C PPAP2B_ENST00000459962.1_5'UTR NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 245 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 TCTGATACGCGAGACAGTCCC 0.572000 20 58 0 0 0.00121646 0 0 TM2D1 83941 broad.mit.edu 37 1 62190821 62190821 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:62190821C>T ENST00000371180.2 - 1 274 c.158G>A c.(157-159)gGa>gAa p.G53E TM2D1_ENST00000294613.5_5'UTR NM_032027.2 NP_114416.1 Q9BX74 TM2D1_HUMAN TM2 domain containing 1 0 apoptosis large_intestine(2)|lung(3)|ovary(1) 6 CTCGCCACTTCCGCTTCCGCC 0.647000 20 81 0 0 0.000720815 0 0 PTPRE 5791 broad.mit.edu 37 10 129871686 129871686 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:129871686G>A ENST00000254667.3 + 17 1829 c.1550G>A c.(1549-1551)tGg>tAg p.W517* PTPRE_ENST00000306042.5_Nonsense_Mutation_p.W459*|PTPRE_ENST00000419012.2_Nonsense_Mutation_p.W517* NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 517 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) ATCTGGGAATGGAAATCCCAC 0.602000 7 35 0 0 0.00198382 0 0 RSF1 51773 broad.mit.edu 37 11 77412531 77412531 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:77412531G>A ENST00000308488.6 - 6 2045 c.1743C>T c.(1741-1743)atC>atT p.I581I RSF1_ENST00000480887.1_Silent_p.I329I|RSF1_ENST00000360355.2_Silent_p.I550I Q96T23 RSF1_HUMAN remodeling and spacing factor 1 581 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) GACATTCTAGGATTGGTGGGC 0.403000 56 131 0 0 0.000781405 0 0 NOVA2 4858 broad.mit.edu 37 19 46443169 46443169 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:46443169G>A ENST00000263257.5 - 4 1625 c.1431C>T c.(1429-1431)gtC>gtT p.V477V NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 477 nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) GCTCGTAGGTGACCCGCTGAC 0.637000 22 26 0 0 0.000375601 0 0 HERC2 8924 broad.mit.edu 37 15 28424363 28424363 + Missense_Mutation SNP C C T rs137879939 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:28424363C>T ENST00000261609.7 - 58 9052 c.8944G>A c.(8944-8946)Gtt>Att p.V2982I NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2982 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AACGAAGGAACCTTTATCTAC 0.289000 24 114 0 0 0.00106085 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938827 2938827 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:2938827C>T ENST00000378404.2 + 1 782 c.577C>T c.(577-579)Ctc>Ttc p.L193F NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 193 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CACGGAGCTCCTCATGCAGCT 0.627000 22 56 0 0 0.00047179 0 0 C9orf78 51759 broad.mit.edu 37 9 132591577 132591577 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:132591577G>A ENST00000372447.3 - 8 738 c.685C>T c.(685-687)Cat>Tat p.H229Y C9orf78_ENST00000461762.1_5'UTR NM_016520.2 NP_057604.1 Q9NZ63 CI078_HUMAN chromosome 9 open reading frame 78 229 kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2) 13 Ovarian(14;0.00556) AGCTCCTCATGATAAACTGGA 0.567000 7 36 0 0 0.00198382 0 0 CYP4A22 284541 broad.mit.edu 37 1 47607897 47607897 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:47607897G>A ENST00000371891.3 + 4 531 c.500G>A c.(499-501)cGa>cAa p.R167Q CYP4A22_ENST00000294337.3_Missense_Mutation_p.R167Q|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R167Q|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 167 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 GACTCTGTACGAGTGATGCTG 0.567000 18 43 0 0 0.00074312 0 0 OR10J1 26476 broad.mit.edu 37 1 159410066 159410066 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:159410066C>T ENST00000423932.3 + 1 555 c.518C>T c.(517-519)tCt>tTt p.S173F RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 173 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) CAAGTGACATCTGTATTCAGG 0.493000 30 53 0 0 0.00127121 0 0 IQUB 154865 broad.mit.edu 37 7 123101558 123101558 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:123101558G>A ENST00000466202.1 - 11 2436 c.1860C>T c.(1858-1860)cgC>cgT p.R620R IQUB_ENST00000324698.6_Silent_p.R620R Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 620 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 GGTATATGCGGCGTGAGGTGG 0.378000 5 11 0 0 0.000602214 0 0 A4GALT 53947 broad.mit.edu 37 22 43089692 43089692 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:43089692T>C ENST00000401850.1 - 2 755 c.266A>G c.(265-267)aAc>aGc p.N89S A4GALT_ENST00000381278.3_Missense_Mutation_p.N89S|A4GALT_ENST00000249005.2_Missense_Mutation_p.N89S Q9NPC4 A4GAT_HUMAN alpha 1,4-galactosyltransferase 89 glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 GAAGTTGGGGTTGGTCCGGTC 0.637000 26 109 0 0 0.00106085 0 0 VDAC3 7419 broad.mit.edu 37 8 42259489 42259489 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:42259489C>T ENST00000392935.3 + 7 653 c.510C>T c.(508-510)ttC>ttT p.F170F VDAC3_ENST00000022615.4_Silent_p.F169F|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Silent_p.F170F NM_001135694.2|NM_005662.6 NP_001129166.1|NP_005653.3 Q9Y277 VDAC3_HUMAN voltage-dependent anion channel 3 169 adenine transport mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024) Dihydroxyaluminium(DB01375) AGAATAATTTCGCCCTGGGTT 0.463000 11 40 0 0 0.000219431 0 0 NUP98 4928 broad.mit.edu 37 11 3700811 3700811 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:3700811G>A ENST00000324932.7 - 31 5466 c.5046C>T c.(5044-5046)gtC>gtT p.V1682V NUP98_ENST00000355260.3_Silent_p.V1608V|NUP98_ENST00000359171.4_Silent_p.V1608V NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1699 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GCATTTCAATGACTCTAATAT 0.478000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 5 37 0 0 0.00116845 0 0 TUBB8 347688 broad.mit.edu 37 10 94621 94621 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:94621C>T ENST00000309812.4 - 3 273 c.211G>A c.(211-213)Ggc>Agc p.G71S TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_5'UTR|TUBB8_ENST00000332708.5_Silent_p.R34R NM_177987.2 NP_817124.1 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 71 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TCCATGGTGCCCGGCTCCAGA 0.701000 24 45 0 0 0.00128727 0 0 AP1M2 10053 broad.mit.edu 37 19 10692226 10692226 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:10692226G>A ENST00000590923.1 - 5 566 c.483C>T c.(481-483)tcC>tcT p.S161S AP1M2_ENST00000250244.6_Silent_p.S161S Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 161 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) TGATACCCTCGGAGCGCCAGG 0.592000 OREG0025241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 25 0 0 0.00185496 0 0 HGFAC 3083 broad.mit.edu 37 4 3445869 3445869 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:3445869C>T ENST00000382774.3 + 5 694 c.579C>T c.(577-579)acC>acT p.T193T HGFAC_ENST00000511533.1_Silent_p.T193T NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 193 EGF-like 1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGGCCTTCACCGGCAAGGACT 0.692000 4 6 0 0 0.00024832 0 0 KDM5D 8284 broad.mit.edu 37 Y 21877756 21877756 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrY:21877756G>A ENST00000541639.1 - 17 2546 c.2259C>T c.(2257-2259)tcC>tcT p.S753S KDM5D_ENST00000382806.2_Silent_p.S665S|KDM5D_ENST00000317961.4_Silent_p.S722S NM_001146705.1 NP_001140177.1 Q9BY66 KDM5D_HUMAN lysine (K)-specific demethylase 5D 722 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(1)|large_intestine(9)|lung(6)|skin(1) 17 Vitamin C(DB00126) CATTGATGTGGGAAAGGCATA 0.557000 13 16 0 0 0.000308642 0 0 KCNH1 3756 broad.mit.edu 37 1 211192179 211192179 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:211192179C>T ENST00000271751.4 - 6 1005 c.978G>A c.(976-978)ggG>ggA p.G326G KCNH1_ENST00000367007.4_Intron O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 326 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AACCAATCTTCCCTGGATCAC 0.458000 17 87 0 0 0.000958276 0 0 MS4A6A 64231 broad.mit.edu 37 11 59942994 59942994 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:59942994G>A ENST00000528851.1 - 5 570 c.430C>T c.(430-432)Cct>Tct p.P144S MS4A6A_ENST00000323961.3_Missense_Mutation_p.P144S|MS4A6A_ENST00000533023.1_Missense_Mutation_p.P80S|MS4A6A_ENST00000412309.2_Missense_Mutation_p.P172S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.P144S|MS4A6A_ENST00000530839.1_Missense_Mutation_p.P144S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.P172S|MS4A6A_ENST00000426738.2_Missense_Mutation_p.P99S Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 144 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 AGTGAGGCAGGATTTAAGGTG 0.428000 12 37 0 0 0.00136819 0 0 SH2D3C 10044 broad.mit.edu 37 9 130536314 130536314 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:130536314C>T ENST00000314830.8 - 2 583 c.470G>A c.(469-471)gGa>gAa p.G157E SH2D3C_ENST00000471939.1_5'UTR NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 157 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTCTACGTCTCCTGTGGGGAC 0.572000 14 29 0 0 0.000422831 0 0 STEAP3 55240 broad.mit.edu 37 2 120005343 120005343 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:120005343C>T ENST00000354888.5 + 4 1085 c.581C>T c.(580-582)tCc>tTc p.S194F STEAP3_ENST00000393106.2_Missense_Mutation_p.S194F|STEAP3_ENST00000409811.1_Missense_Mutation_p.S194F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.S194F|STEAP3_ENST00000425223.2_Missense_Mutation_p.S194F|STEAP3_ENST00000393107.2_Missense_Mutation_p.S194F|STEAP3_ENST00000393108.2_Missense_Mutation_p.S194F|STEAP3_ENST00000393110.2_Missense_Mutation_p.S204F NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 194 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 GACATGGGATCCCTGGCGTCA 0.667000 6 22 0 0 0.00116845 0 0 CYP4F12 66002 broad.mit.edu 37 19 15795991 15795991 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:15795991C>T ENST00000550308.1 + 9 1479 c.1099C>T c.(1099-1101)Cct>Tct p.P367S CYP4F12_ENST00000324632.9_Missense_Mutation_p.P367S NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GGACCGCGATCCTAAAGAGAT 0.562000 19 80 0 0 0.00229938 0 0 CYP2C9 1559 broad.mit.edu 37 10 96709029 96709029 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:96709029G>A ENST00000260682.6 + 5 819 c.807G>A c.(805-807)atG>atA p.M269I NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 269 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) GCTTCCTGATGAAAATGGAGA 0.323000 7 32 0 0 0.000274275 0 0 IGKV1-9 28941 broad.mit.edu 37 2 89309564 89309564 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:89309564G>A ENST00000493819.1 - 0 323 TTCTGTCCCAGATCCACTGCC 0.483000 40 63 0 0 0.000781405 0 0 SNHG14 104472715 broad.mit.edu 37 15 25304718 25304718 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:25304718C>T ENST00000549804.2 + 0 111 SNHG14_ENST00000384733.1_RNA AAAAACATTCCTTGGAAAAGC 0.502000 23 121 0 0 0.00127121 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444303 15444303 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:15444303C>T ENST00000295297.4 + 3 1030 c.771C>T c.(769-771)ttC>ttT p.F257F C1QTNF7_ENST00000444304.2_Silent_p.F250F|C1QTNF7_ENST00000429690.1_Silent_p.F250F NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 250 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 TGGAGATTTTCTTCACAGACC 0.483000 13 75 0 0 0.000219431 0 0 MAP10 54627 broad.mit.edu 37 1 232942939 232942939 + Missense_Mutation SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:232942939G>C ENST00000418460.1 + 1 2297 c.2170G>C c.(2170-2172)Gtt>Ctt p.V724L NM_019090.2 NP_061963.2 microtubule-associated protein 10 AATCAGTGGAGTTTTTGATGA 0.333000 5 39 0 0 0.000602214 0 0 TPH2 121278 broad.mit.edu 37 12 72338106 72338106 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:72338106C>T ENST00000333850.3 + 3 429 c.288C>T c.(286-288)tcC>tcT p.S96S TPH2_ENST00000546576.1_3'UTR NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 96 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) ATATTGAATCCAGGAAATCTC 0.403000 10 32 0 0 0.000673444 0 0 MRE11A 4361 broad.mit.edu 37 11 94197315 94197315 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:94197315G>A ENST00000323929.3 - 11 1411 c.1189C>T c.(1189-1191)Cat>Tat p.H397Y MRE11A_ENST00000407439.3_Missense_Mutation_p.H400Y|MRE11A_ENST00000393241.4_Missense_Mutation_p.H397Y|MRE11A_ENST00000323977.3_Missense_Mutation_p.H397Y NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 397 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) CTGAAAAAATGGATAATGTCT 0.343000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 31 70 0 0 0.00058488 0 0 BDKRB2 624 broad.mit.edu 37 14 96707018 96707018 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:96707018C>T ENST00000542454.2 + 3 3360 c.272C>T c.(271-273)tCc>tTc p.S91F BDKRB2_ENST00000539359.1_Missense_Mutation_p.S91F|BDKRB2_ENST00000306005.3_Missense_Mutation_p.S118F|BDKRB2_ENST00000554311.1_Missense_Mutation_p.S118F|RP11-404P21.8_ENST00000553811.1_Intron P30411 BKRB2_HUMAN bradykinin receptor B2 118 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) ATCACCATCTCCAACAACTTC 0.587000 34 131 0 0 0.00111076 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122348819 122348819 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:122348819C>T ENST00000398248.1 + 3 522 c.170C>T c.(169-171)cCt>cTt p.P57L PPAPDC1A_ENST00000398250.1_Silent_p.S207S|PPAPDC1A_ENST00000439221.1_Silent_p.S144S|PPAPDC1A_ENST00000369073.3_Silent_p.S197S Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 0 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) GCCTAGATTCCTTTGTGGGTG 0.443000 31 150 0 0 0.000692331 0 0 ARPP21 10777 broad.mit.edu 37 3 35780915 35780915 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:35780915C>T ENST00000187397.4 + 17 2207 c.1751C>T c.(1750-1752)cCa>cTa p.P584L ARPP21_ENST00000337271.5_Missense_Mutation_p.P565L|ARPP21_ENST00000417925.1_Missense_Mutation_p.P585L|ARPP21_ENST00000458225.1_Missense_Mutation_p.P585L|ARPP21_ENST00000444190.1_Missense_Mutation_p.P565L NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 584 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 TCCCTTATGCCACAGCCGGCC 0.612000 13 43 0 0 0.00136819 0 0 SLC5A11 115584 broad.mit.edu 37 16 24902310 24902310 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:24902310G>A ENST00000347898.3 + 9 1407 c.785G>A c.(784-786)cGa>cAa p.R262Q SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000539472.1_Missense_Mutation_p.R198Q|SLC5A11_ENST00000567758.1_Missense_Mutation_p.R227Q|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000568579.1_Missense_Mutation_p.R192Q|SLC5A11_ENST00000424767.2_Missense_Mutation_p.R227Q|SLC5A11_ENST00000565769.1_Missense_Mutation_p.R198Q|SLC5A11_ENST00000545376.1_Missense_Mutation_p.R192Q NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 262 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) CATATTTTCCGAGATCCGCTG 0.572000 39 62 0 0 0.00222228 0 0 NUP210 23225 broad.mit.edu 37 3 13420428 13420428 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:13420428G>A ENST00000254508.5 - 8 1111 c.1029C>T c.(1027-1029)gtC>gtT p.V343V NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 343 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)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) ATCCAGGTTCGACCACGTAGA 0.448000 55 143 0 0 0.000781405 0 0 HELLS 3070 broad.mit.edu 37 10 96352063 96352063 + Silent SNP T T G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:96352063T>G ENST00000348459.5 + 16 1950 c.1845T>G c.(1843-1845)ggT>ggG p.G615G HELLS_ENST00000394045.1_Silent_p.G517G|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Silent_p.G661G NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 615 Helicase C-terminal. cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) AAAAAAGAGGTCACAAGGTGG 0.323000 10 55 0 0 0.000978159 0 0 TPH1 7166 broad.mit.edu 37 11 18062263 18062263 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:18062263C>T ENST00000250018.2 - 1 609 c.47G>A c.(46-48)gGa>gAa p.G16E TPH1_ENST00000341556.2_Missense_Mutation_p.G16E NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 16 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) ACTTGCTCTTCCCCTTTCTAA 0.343000 10 47 0 0 0.000673444 0 0 TFCP2L1 29842 broad.mit.edu 37 2 122038784 122038784 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:122038784G>A ENST00000263707.5 - 2 223 c.126C>T c.(124-126)gcC>gcT p.A42A NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 42 Mediate transcriptional repression. female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) GTGGCAGGCGGGCCTCGTTCT 0.607000 43 170 0 0 0.000781405 0 0 PTPN4 5775 broad.mit.edu 37 2 120620206 120620206 + Missense_Mutation SNP C C T rs145726868 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:120620206C>T ENST00000263708.2 + 3 1004 c.233C>T c.(232-234)tCc>tTc p.S78F NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 78 FERM. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) GCTGATGATTCCACAGATAAC 0.373000 12 46 0 0 0.00136819 0 0 PCLO 27445 broad.mit.edu 37 7 82581953 82581953 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:82581953T>C ENST00000423517.2 - 5 8653 c.8316A>G c.(8314-8316)caA>caG p.Q2772Q PCLO_ENST00000333891.8_Silent_p.Q2772Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2703 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 TAATAGAGGGTTGGACAGCAC 0.388000 13 59 0 0 0.000219431 0 0 UTP6 55813 broad.mit.edu 37 17 30211497 30211497 + Missense_Mutation SNP G G A rs146623373 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:30211497G>A ENST00000261708.4 - 10 868 c.731C>T c.(730-732)tCg>tTg p.S244L CTC-542B22.2_ENST00000583236.1_lincRNA NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) 244 rRNA processing nucleolus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) CTGTGCAATCGAAAGCAGTGA 0.333000 10 29 0 0 0.00185496 0 0 ESYT1 23344 broad.mit.edu 37 12 56536073 56536073 + Missense_Mutation SNP G G T rs144008887 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:56536073G>T ENST00000394048.5 + 25 2861 c.2597G>T c.(2596-2598)cGg>cTg p.R866L ESYT1_ENST00000267113.4_Missense_Mutation_p.R876L|ESYT1_ENST00000541590.1_Missense_Mutation_p.R876L|ESYT1_ENST00000550878.1_Intron NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 866 C2 4. integral to membrane p.R866L(1) breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 CCACAGGTTCGGGGTGAGGGC 0.547000 9 148 0.000978159 0.00432453 0.000978159 1 0 IL1R1 3554 broad.mit.edu 37 2 102792865 102792865 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:102792865C>T ENST00000410023.1 + 12 1674 c.1356C>T c.(1354-1356)atC>atT p.I452I IL1R1_ENST00000233946.3_Silent_p.I452I|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Silent_p.I421I P14778 IL1R1_HUMAN interleukin 1 receptor, type I 452 TIR. 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) GACTGATTATCATTTTAGTCA 0.353000 10 70 0 0 0.000978159 0 0 HTR3A 3359 broad.mit.edu 37 11 113860388 113860388 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:113860388C>T ENST00000504030.2 + 9 1785 c.1340C>T c.(1339-1341)tCc>tTc p.S447F HTR3A_ENST00000375498.2_Missense_Mutation_p.S453F|HTR3A_ENST00000506841.2_Missense_Mutation_p.S479F|HTR3A_ENST00000299961.5_Missense_Mutation_p.S432F|HTR3A_ENST00000355556.2_Missense_Mutation_p.S485F|HTR3A_ENST00000535865.1_Missense_Mutation_p.S191F P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 447 HA-stretch. digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CGCGTGGGCTCCGTGCTGGAC 0.602000 25 54 0 0 0.000586117 0 0 PXDNL 137902 broad.mit.edu 37 8 52366189 52366189 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:52366189G>A ENST00000356297.4 - 10 1239 c.1139C>T c.(1138-1140)tCc>tTc p.S380F PXDNL_ENST00000543296.1_Missense_Mutation_p.S380F NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 380 Ig-like C2-type 2. 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) AAGTCCACTGGACGTTGCCAC 0.502000 10 48 0 0 0.000442599 0 0 OR2J3 442186 broad.mit.edu 37 6 29080091 29080091 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:29080091C>T ENST00000377169.1 + 1 424 c.424C>T c.(424-426)Cgt>Tgt p.R142C NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 CATGCACCCTCGTTTCTGCCA 0.527000 61 111 0 0 0.000781405 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141419 143141419 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:143141419C>T ENST00000332690.1 + 1 874 c.874C>T c.(874-876)Cac>Tac p.H292Y EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 292 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TGCAGCAGTTCACCCCATCAT 0.488000 35 108 0 0 0.000814825 0 0 COL14A1 7373 broad.mit.edu 37 8 121174798 121174798 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:121174798C>T ENST00000297848.3 + 4 609 c.339C>T c.(337-339)ggC>ggT p.G113G COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.G113G|COL14A1_ENST00000247781.3_Silent_p.G113G|COL14A1_ENST00000537875.1_Silent_p.G113G NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 113 Fibronectin type-III 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CAGCTCAAGGCCAATTCAGAA 0.383000 7 37 0 0 0.00198382 0 0 TRPM4 54795 broad.mit.edu 37 19 49686156 49686156 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:49686156C>T ENST00000252826.5 + 11 1711 c.1585C>T c.(1585-1587)Cca>Tca p.P529S TRPM4_ENST00000427978.2_Missense_Mutation_p.P529S|TRPM4_ENST00000355712.5_Missense_Mutation_p.P175S NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 529 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGACCCTCACCCAGGCCAGGG 0.721000 10 15 0 0 0.000673444 0 0 ZNF215 7762 broad.mit.edu 37 11 6953603 6953603 + Missense_Mutation SNP G G A rs35628439 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:6953603G>A ENST00000278319.5 + 3 688 c.100G>A c.(100-102)Gaa>Aaa p.E34K ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.E34K|ZNF215_ENST00000529903.1_Missense_Mutation_p.E34K NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 34 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TTGGCAGCAGGAAACCAACCC 0.493000 32 75 0 0 0.00148497 0 0 FES 2242 broad.mit.edu 37 15 91433182 91433182 + Missense_Mutation SNP C C G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:91433182C>G ENST00000328850.3 + 8 1181 c.1039C>G c.(1039-1041)Ccc>Gcc p.P347A FES_ENST00000394300.3_Missense_Mutation_p.P289A|FES_ENST00000448367.1_3'UTR|FES_ENST00000414248.2_Missense_Mutation_p.P289A|FES_ENST00000450438.2_Missense_Mutation_p.P289A|FES_ENST00000394302.1_Missense_Mutation_p.P289A|FES_ENST00000444422.2_Missense_Mutation_p.P347A NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 347 axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GAACACCCACCCCCGGGAGCG 0.657000 24 154 0 0 0.000375601 0 0 CYP4A22 284541 broad.mit.edu 37 1 47606553 47606553 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:47606553C>T ENST00000371891.3 + 2 328 c.297C>T c.(295-297)ctC>ctT p.L99L CYP4A22_ENST00000294337.3_Silent_p.L99L|CYP4A22_ENST00000371890.3_Silent_p.L99L|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 99 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 GTGTCCAGCTCTATGACCCTG 0.517000 8 105 0 0 0.000978159 0 0 LRRC55 219527 broad.mit.edu 37 11 56949817 56949817 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:56949817C>T ENST00000497933.1 + 1 597 c.450C>T c.(448-450)ggC>ggT p.G150G NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 120 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 TGCCCCGGGGCCTCTTCCTCC 0.577000 8 11 0 0 0.000157383 0 0 DLC1 10395 broad.mit.edu 37 8 13357009 13357009 + Missense_Mutation SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:13357009A>G ENST00000276297.4 - 2 981 c.572T>C c.(571-573)cTg>cCg p.L191P DLC1_ENST00000316609.5_Missense_Mutation_p.L191P|DLC1_ENST00000511869.1_Missense_Mutation_p.L191P NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 191 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCAAAGCTCCAGGCTTTTACT 0.378000 40 94 0 0 0.00222228 0 0 PPP1R36 145376 broad.mit.edu 37 14 65055931 65055931 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:65055931C>T ENST00000298705.1 + 12 1240 c.1144C>T c.(1144-1146)Cca>Tca p.P382S RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 382 CCCCCTTGATCCAGAAGAAAA 0.433000 7 46 0 0 0.000157383 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47246131 47246131 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:47246131G>A ENST00000300404.2 + 10 1423 c.1364G>A c.(1363-1365)gGa>gAa p.G455E B4GALNT2_ENST00000504681.1_Missense_Mutation_p.G369E|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.G395E NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 455 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) AAGAGGATGGGATTTTTCCAA 0.557000 10 17 0 0 0.000978159 0 0 KRTAP12-3 386683 broad.mit.edu 37 21 46078040 46078040 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:46078040C>T ENST00000397907.1 + 1 192 c.144C>T c.(142-144)ccC>ccT p.P48P TSPEAR_ENST00000323084.4_Intron NM_198697.2 NP_941970.2 P60328 KR123_HUMAN keratin associated protein 12-3 48 14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GCGTGGCTCCCTCCTGCCAGC 0.647000 15 93 0 0 0.000308642 0 0 EDDM3B 64184 broad.mit.edu 37 14 21238578 21238578 + Missense_Mutation SNP G G A rs28731276 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:21238578G>A ENST00000326783.3 + 2 367 c.269G>A c.(268-270)cGa>cAa p.R90Q NM_022360.4 NP_071755.1 P56851 EP3B_HUMAN epididymal protein 3B 90 spermatid development extracellular region central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 GATCGCTTCCGAAATGCATAT 0.408000 5 30 0 0 0.000602214 0 0 ITGA2B 3674 broad.mit.edu 37 17 42458006 42458006 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:42458006G>A ENST00000262407.5 - 14 1432 c.1401C>T c.(1399-1401)atC>atT p.I467I ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Silent_p.I467I NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 467 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity p.I467I(1) 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) AAGCTCCCACGATCAGGTCTA 0.602000 19 36 0 0 0.000878237 0 0 OR13C4 138804 broad.mit.edu 37 9 107289317 107289317 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:107289317G>A ENST00000277216.3 - 1 173 c.174C>T c.(172-174)ccC>ccT p.P58P NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 AGAAGTACATGGGCATGTGAA 0.413000 22 36 0 0 0.000375601 0 0 MAP2K6 5608 broad.mit.edu 37 17 67519782 67519782 + Splice_Site SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:67519782C>A ENST00000590474.1 + 8 950 c.663_splice c.e8+1 p.A221_splice MAP2K6_ENST00000589647.1_Splice_Site_p.A165_splice NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 221 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) CATACATGGCCGTAAGTACAT 0.453000 5 98 0.00116845 0.00515798 0.00116845 1 0 LRP2 4036 broad.mit.edu 37 2 170027124 170027124 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:170027124G>A ENST00000263816.3 - 59 11602 c.11317C>T c.(11317-11319)Ccc>Tcc p.P3773S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3773 LDL-receptor class A 32. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CATCGCGAGGGAATGCACTGC 0.502000 22 55 0 0 0.00152264 0 0 CCNK 8812 broad.mit.edu 37 14 99959118 99959118 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:99959118C>T ENST00000389879.5 + 2 227 c.104C>T c.(103-105)cCc>cTc p.P35L CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.P35L NM_001099402.1 NP_001092872.1 O75909 CCNK_HUMAN cyclin K 35 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding NS(1)|endometrium(2)|lung(3) 6 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) GCTCATACACCCTCACAACTT 0.507000 6 24 0 0 0.00198382 0 0 SLC35D2 11046 broad.mit.edu 37 9 99107656 99107656 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:99107656G>A ENST00000253270.7 - 7 578 c.516C>T c.(514-516)ggC>ggT p.G172G SLC35D2_ENST00000375259.4_Intron NM_007001.2 NP_008932.2 Q76EJ3 S35D2_HUMAN solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 172 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) CAAAAATATAGCCTTCTAAGT 0.428000 17 33 0 0 0.000958276 0 0 KIF1B 23095 broad.mit.edu 37 1 10316337 10316337 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:10316337C>T ENST00000377086.1 + 3 341 c.139C>T c.(139-141)Cca>Tca p.P47S KIF1B_ENST00000377093.4_Missense_Mutation_p.P47S|KIF1B_ENST00000263934.6_Missense_Mutation_p.P47S|KIF1B_ENST00000377083.1_Missense_Mutation_p.P47S|KIF1B_ENST00000377081.1_Missense_Mutation_p.P47S O60333 KIF1B_HUMAN kinesin family member 1B 47 Kinesin-motor. 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) AAAGGAAGCTCCAAAGTCCTT 0.398000 31 79 0 0 0.000692331 0 0 OR8D2 283160 broad.mit.edu 37 11 124189289 124189289 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:124189289C>T ENST00000357438.2 - 1 895 c.805G>A c.(805-807)Gaa>Aaa p.E269K NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TTCTCTTTTTCCATAGTAGTG 0.428000 28 64 0 0 0.00209593 0 0 CARS 833 broad.mit.edu 37 11 3028115 3028115 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:3028115G>A ENST00000397114.3 - 19 2240 c.1864C>T c.(1864-1866)Cac>Tac p.H622Y CARS_ENST00000470221.2_5'UTR|CARS_ENST00000397111.5_Missense_Mutation_p.H632Y|CARS_ENST00000278224.9_Missense_Mutation_p.H632Y|CARS_ENST00000380525.4_Missense_Mutation_p.H715Y|CARS_ENST00000401769.3_Missense_Mutation_p.H645Y P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 632 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 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;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CCACCTTCGTGGTCTTCAAAC 0.587000 T ALK ALCL 40 244 0 0 0.000781405 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20484046 20484046 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:20484046G>A ENST00000202677.6 - 35 5299 c.5157C>T c.(5155-5157)ttC>ttT p.F1719F NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1719 Rap-GAP. 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 TGGAAACATGGAAAATCACTT 0.542000 23 48 0 0 0.000586117 0 0 PRUNE2 158471 broad.mit.edu 37 9 79441559 79441559 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:79441559G>A ENST00000376718.3 - 5 721 c.598C>T c.(598-600)Cct>Tct p.P200S PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.P200S NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 200 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GGCAAGTTAGGAAATTTTTCT 0.473000 29 46 0 0 0.00106085 0 0 WFDC3 140686 broad.mit.edu 37 20 44416612 44416612 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:44416612C>T ENST00000243938.4 - 4 304 c.221G>A c.(220-222)aGa>aAa p.R74K WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000372630.2_Intron NM_080614.1 NP_542181.1 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 74 WAP 2. extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(3)|prostate(1) 5 Myeloproliferative disorder(115;0.0122) AGGGCAATCTCTTTTCCTCCC 0.488000 14 34 0 0 0.000308642 0 0 NRXN2 9379 broad.mit.edu 37 11 64397988 64397988 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:64397988C>T ENST00000265459.6 - 19 4104 c.3643G>A c.(3643-3645)Gag>Aag p.E1215K NRXN2_ENST00000377559.3_Missense_Mutation_p.E1175K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E1215K|NRXN2_ENST00000301894.2_Missense_Mutation_p.E169K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1208K NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1215 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 GCGTTGGGCTCGTCGATGGTA 0.627000 30 54 0 0 0.00209593 0 0 NDFIP1 80762 broad.mit.edu 37 5 141517330 141517330 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:141517330C>T ENST00000253814.4 + 5 872 c.402C>T c.(400-402)ttC>ttT p.F134F NM_030571.3 NP_085048.1 Q9BT67 NFIP1_HUMAN Nedd4 family interacting protein 1 134 cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm signal transducer activity large_intestine(3)|lung(1)|ovary(1) 5 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGGTTTTTCCTGTCTTTTT 0.453000 32 156 0 0 0.000491102 0 0 PIGR 5284 broad.mit.edu 37 1 207108853 207108853 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:207108853G>A ENST00000356495.4 - 5 1539 c.1356C>T c.(1354-1356)acC>acT p.T452T NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 452 Ig-like V-type 4. 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 TGATCTCCACGGTGGTCCTCC 0.562000 OREG0014186 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 78 0 0 0.000157383 0 0 TUBD1 51174 broad.mit.edu 37 17 57963527 57963527 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:57963527C>T ENST00000325752.3 - 3 514 c.237G>A c.(235-237)aaG>aaA p.K79K TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Silent_p.K79K|TUBD1_ENST00000340993.6_Silent_p.K79K|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Silent_p.K79K|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000394239.3_Silent_p.K79K NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 79 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) ACTGGGCAGCCTTTGACAGCA 0.423000 38 57 0 0 0.00128727 0 0 BMP3 651 broad.mit.edu 37 4 81966905 81966905 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:81966905A>T ENST00000282701.2 + 2 650 c.330A>T c.(328-330)agA>agT p.R110S NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 110 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 CTCTTGAAAGAAAAGGACTGT 0.358000 7 47 0 0 0.000442599 0 0 ATXN2L 11273 broad.mit.edu 37 16 28842006 28842006 + Missense_Mutation SNP T T G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:28842006T>G ENST00000336783.4 + 9 1272 c.1105T>G c.(1105-1107)Tct>Gct p.S369A ATXN2L_ENST00000564304.1_Missense_Mutation_p.S369A|ATXN2L_ENST00000395547.2_Missense_Mutation_p.S369A|ATXN2L_ENST00000382686.4_Missense_Mutation_p.S369A|ATXN2L_ENST00000340394.8_Missense_Mutation_p.S369A|ATXN2L_ENST00000325215.6_Missense_Mutation_p.S369A|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.S369A NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 369 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 ATGCAGCAGCTCTCGGGGCGG 0.607000 14 41 0 0 0.000219431 0 0 CDYL2 124359 broad.mit.edu 37 16 80667020 80667020 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:80667020C>T ENST00000299564.8 - 3 885 c.730G>A c.(730-732)Gaa>Aaa p.E244K CDYL2_ENST00000562812.1_Missense_Mutation_p.E245K|CDYL2_ENST00000563890.1_Missense_Mutation_p.E245K|CDYL2_ENST00000566173.1_Missense_Mutation_p.E245K NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 244 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CAGTTGCTTTCATTCTGGCGG 0.527000 13 77 0 0 0.000308642 0 0 KMT2C 58508 broad.mit.edu 37 7 151945093 151945093 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:151945093C>T ENST00000355193.2 - 14 2644 c.2426G>A c.(2425-2427)gGa>gAa p.G809E KMT2C_ENST00000262189.6_Missense_Mutation_p.G809E lysine (K)-specific methyltransferase 2C CATGATGTTTCCAGCAGAGGA 0.448000 19 465 0 0 0.00229938 0 0 IL18RAP 8807 broad.mit.edu 37 2 103067330 103067330 + Silent SNP C C T rs140183707 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:103067330C>T ENST00000264260.2 + 11 1822 c.1233C>T c.(1231-1233)ttC>ttT p.F411F IL18RAP_ENST00000409369.1_Silent_p.F269F NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 411 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity p.F411F(1) 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 TTGATGCTTTCGTATCCTATG 0.343000 43 115 0 0 0.000781405 0 0 GLYATL2 219970 broad.mit.edu 37 11 58604599 58604599 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:58604599G>A ENST00000287275.1 - 5 755 c.365C>T c.(364-366)tCa>tTa p.S122L GLYATL2_ENST00000532258.1_Missense_Mutation_p.S122L|GLYATL2_ENST00000533636.1_5'UTR NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 122 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) TACCTGCACTGATTTTGAAGT 0.403000 13 42 0 0 0.000219431 0 0 GEMIN5 25929 broad.mit.edu 37 5 154308218 154308218 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:154308218C>T ENST00000285873.7 - 6 858 c.781_splice c.e6-1 p.G261_splice NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 261 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) AAATCATCACCCCTGCAGATT 0.473000 8 34 0 0 0.000442599 0 0 SEMA6C 10500 broad.mit.edu 37 1 151110496 151110496 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:151110496G>A ENST00000341697.3 - 9 2324 c.633C>T c.(631-633)ctC>ctT p.L211L Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 211 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGGCGGAGCGGAGTGGGGGCT 0.627000 22 61 0 0 0.00106085 0 0 ACY3 91703 broad.mit.edu 37 11 67413180 67413180 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:67413180G>A ENST00000255082.3 - 4 585 c.415C>T c.(415-417)Ctg>Ttg p.L139L ACY3_ENST00000529256.1_Silent_p.L18L NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 139 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) TGGCGGCACAGGTGCATGGCA 0.627000 23 47 0 0 0.000878237 0 0 LAMB1 3912 broad.mit.edu 37 7 107600132 107600132 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:107600132C>T ENST00000393560.1 - 19 2624 c.2462G>A c.(2461-2463)aGg>aAg p.R821K LAMB1_ENST00000222399.6_Intron|LAMB1_ENST00000393561.1_Intron P07942 LAMB1_HUMAN laminin, beta 1 0 Laminin EGF-like 7. 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) TTTGAGGAACCTACGTTTGCA 0.517000 7 44 0 0 0.00198382 0 0 POR 5447 broad.mit.edu 37 7 75615739 75615739 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:75615739G>A ENST00000419840.1 + 15 1725 c.1085G>A c.(1084-1086)cGg>cAg p.R362Q POR_ENST00000439269.1_Silent_p.A399A|POR_ENST00000545601.1_Silent_p.A469A|POR_ENST00000461988.1_Silent_p.A661A|POR_ENST00000450476.1_Missense_Mutation_p.R567Q|POR_ENST00000394893.1_3'UTR P16435 NCPR_HUMAN P450 (cytochrome) oxidoreductase 0 FAD-binding FR-type. cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1) 9 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) ACGCGCAGGCGGTGGACTACA 0.637000 13 36 0 0 0.00185496 0 0 ADAM18 8749 broad.mit.edu 37 8 39587434 39587434 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:39587434C>T ENST00000265707.5 + 20 2240 c.2195C>T c.(2194-2196)tCa>tTa p.S732L ADAM18_ENST00000379866.1_Missense_Mutation_p.S708L|ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.S146L NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 732 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TCCGTTGTATCAGAAAGCGAT 0.318000 34 114 0 0 0.00170553 0 0 RP1L1 94137 broad.mit.edu 37 8 10469043 10469043 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:10469043G>A ENST00000382483.3 - 4 2788 c.2565C>T c.(2563-2565)acC>acT p.T855T NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 855 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) CCCTGGGCGGGGTGGGACAGT 0.731000 7 6 0 0 0.000157383 0 0 ATP2A3 489 broad.mit.edu 37 17 3833709 3833709 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:3833709G>A ENST00000309890.7 - 18 2780 c.2630C>T c.(2629-2631)tCc>tTc p.S877F ATP2A3_ENST00000397041.3_Missense_Mutation_p.S877F|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S877F|ATP2A3_ENST00000352011.3_Missense_Mutation_p.S877F|ATP2A3_ENST00000397039.1_Missense_Mutation_p.S61F|ATP2A3_ENST00000397035.3_Missense_Mutation_p.S877F|ATP2A3_ENST00000359983.3_Missense_Mutation_p.S877F NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 877 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GTTGTCTTCGGAGCACTTCAG 0.622000 13 35 0 0 0.000422831 0 0 ITFG2 55846 broad.mit.edu 37 12 2933279 2933279 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:2933279C>T ENST00000228799.2 + 12 1403 c.1264C>T c.(1264-1266)Cgt>Tgt p.R422C ITFG2_ENST00000419778.2_Missense_Mutation_p.R245C|ITFG2_ENST00000542548.1_Missense_Mutation_p.R310C NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 422 central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CCCTGTGACTCGTGCCCTGCT 0.602000 40 59 0 0 0.000781405 0 0 LRGUK 136332 broad.mit.edu 37 7 133842793 133842793 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:133842793G>A ENST00000285928.2 + 6 745 c.676G>A c.(676-678)Gag>Aag p.E226K NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 226 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 TATAGGCAATGAGATAGAAGA 0.348000 19 58 0 0 0.00188189 0 0 KRT5 3852 broad.mit.edu 37 12 52914052 52914052 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:52914052C>T ENST00000252242.4 - 1 419 c.29G>A c.(28-30)cGg>cAg p.R10Q NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 10 Head. FRS -> SGA (in Ref. 2). epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCCCCGCTCCGGAAGGACAC 0.637000 5 10 0 0 0.00198382 0 0 CLCN1 1180 broad.mit.edu 37 7 143013335 143013335 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:143013335G>A ENST00000343257.2 + 1 117 c.30G>A c.(28-30)ggG>ggA p.G10G NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 10 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) AGCAGCGTGGGGGTGAACAAA 0.622000 23 32 0 0 0.00229938 0 0 RORA 6095 broad.mit.edu 37 15 60970872 60970872 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:60970872C>T ENST00000335670.6 - 2 280 c.180G>A c.(178-180)acG>acA p.T60T RORA_ENST00000560004.1_5'UTR NM_134261.2 NP_599023.1 P35398 RORA_HUMAN RAR-related orphan receptor A 0 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 GTGTCTTCTTCGTTACTGAGA 0.413000 6 37 0 0 0.00116845 0 0 XIST 7503 broad.mit.edu 37 X 73063632 73063632 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:73063632G>A ENST00000429829.1 - 0 8956 NR_001564.2 GCACAGATCAGGAGCAAATGT 0.423000 6 20 0 0 0.00116845 0 0 TYRO3 7301 broad.mit.edu 37 15 41863851 41863851 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:41863851G>A ENST00000263798.3 + 14 1943 c.1719G>A c.(1717-1719)aaG>aaA p.K573K TYRO3_ENST00000559066.1_Silent_p.K528K NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 573 Protein kinase. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) CTTGCATGAAGGAGTTTGACC 0.463000 8 103 0 0 0.000442599 0 0 SLC4A3 6508 broad.mit.edu 37 2 220500143 220500143 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:220500143C>T ENST00000358055.3 + 13 2409 c.1897C>T c.(1897-1899)Ctt>Ttt p.L633F SLC4A3_ENST00000273063.6_Missense_Mutation_p.L660F|SLC4A3_ENST00000317151.3_Missense_Mutation_p.L633F|SLC4A3_ENST00000373760.2_Missense_Mutation_p.L633F|SLC4A3_ENST00000373762.3_Missense_Mutation_p.L660F P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 633 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) GCGAGAGCTGCTTAGGAAGCG 0.632000 12 36 0 0 0.000219431 0 0 CBX8 57332 broad.mit.edu 37 17 77768609 77768609 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:77768609G>A ENST00000269385.4 - 5 1112 c.995C>T c.(994-996)tCc>tTc p.S332F NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 332 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGCGATGAGGGAGGGCCTTCC 0.687000 13 25 0 0 0.00185496 0 0 FAM129A 116496 broad.mit.edu 37 1 184764157 184764157 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:184764157C>T ENST00000367511.3 - 14 2934 c.2741G>A c.(2740-2742)gGa>gAa p.G914E FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 914 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 ACCACCTTCTCCCTCCTTCAC 0.517000 37 90 0 0 0.00128727 0 0 NPW 283869 broad.mit.edu 37 16 2070544 2070544 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:2070544G>A ENST00000329610.4 + 2 804 c.422G>A c.(421-423)aGa>aAa p.R141K NPW_ENST00000566435.1_Missense_Mutation_p.R89K NM_001099456.2 NP_001092926.2 Q8N729 NPW_HUMAN neuropeptide W 141 feeding behavior|neuropeptide signaling pathway extracellular region kidney(1) 1 AGACTTCGGAGAGACGTCTCC 0.716000 9 33 0 0 0.00136819 0 0 ACTBL2 345651 broad.mit.edu 37 5 56777658 56777658 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:56777658C>T ENST00000423391.1 - 1 978 c.877G>A c.(877-879)Gat>Aat p.D293N CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA NM_001017992.3 NP_001017992.1 Q562R1 ACTBL_HUMAN actin, beta-like 2 293 cytoplasm|cytoskeleton ATP binding breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) GCATAGAGATCCTTGCGAATA 0.493000 6 48 0 0 0.00198382 0 0 ADCY5 111 broad.mit.edu 37 3 123014945 123014945 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:123014945G>A ENST00000462833.1 - 17 4261 c.3049C>T c.(3049-3051)Ctc>Ttc p.L1017F ADCY5_ENST00000491190.1_Missense_Mutation_p.L675F|ADCY5_ENST00000309879.5_Missense_Mutation_p.L667F NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 1017 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) AGTTTCCAGAGGAAGTCGAGG 0.642000 11 51 0 0 0.000673444 0 0 PRPF6 24148 broad.mit.edu 37 20 62642815 62642815 + Silent SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:62642815C>A ENST00000535781.1 + 11 1594 c.1483C>A c.(1483-1485)Cgg>Agg p.R495R ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 495 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) CACCTCGCTGCGGGCCAACGG 0.582000 5 16 1.23904e-05 5.5219e-05 0.000602214 1 0 UBQLN1 29979 broad.mit.edu 37 9 86300962 86300962 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:86300962G>A ENST00000376395.4 - 2 812 c.289C>T c.(289-291)Cat>Tat p.H97Y UBQLN1_ENST00000257468.7_Missense_Mutation_p.H97Y NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 97 Ubiquitin-like. apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 AGTCCATCATGAATTCCATGC 0.328000 19 32 0 0 0.000958276 0 0 TFPI 7035 broad.mit.edu 37 2 188361661 188361661 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:188361661C>T ENST00000233156.3 - 3 560 c.266G>A c.(265-267)gGa>gAa p.G89E AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.G89E|TFPI_ENST00000339091.4_Missense_Mutation_p.G89E|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.G89E NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 89 BPTI/Kunitz inhibitor 1. blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) ATTCTGATTTCCTTCACATCC 0.388000 17 46 0 0 0.00121646 0 0 FLG 2312 broad.mit.edu 37 1 152281024 152281024 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:152281024C>T ENST00000368799.1 - 3 6373 c.6338G>A c.(6337-6339)gGa>gAa p.G2113E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2113 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.G2113E(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) TCCTTGTCTTCCTCCAGTGCT 0.567000 Ichthyosis 28 129 0 0 0.00127121 0 0 CYFIP2 26999 broad.mit.edu 37 5 156816394 156816394 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:156816394C>T ENST00000347377.6 + 29 3836 c.3405C>T c.(3403-3405)ttC>ttT p.F1135F CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.F939F|CYFIP2_ENST00000377576.3_Silent_p.F1135F|CYFIP2_ENST00000318218.6_Silent_p.F1160F|CYFIP2_ENST00000521420.1_Silent_p.F1109F|CYFIP2_ENST00000435847.2_Silent_p.F834F|CYFIP2_ENST00000541131.1_Silent_p.F1060F NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1160 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding p.F1160F(2) 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) CCATGCAGTTCGTGTACTGCA 0.617000 31 144 0 0 0.000692331 0 0 TTN 7273 broad.mit.edu 37 2 179584982 179584982 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179584982C>T ENST00000589042.1 - 81 23611 c.23387G>A c.(23386-23388)cGa>cAa p.R7796Q TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6552Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7479Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7479 Ig-like 60. 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) TTTCACGAATCGTGGAGGTTC 0.453000 8 44 0 0 0.000442599 0 0 KIF1B 23095 broad.mit.edu 37 1 10316344 10316344 + Missense_Mutation SNP C C T rs143654307 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:10316344C>T ENST00000377086.1 + 3 348 c.146C>T c.(145-147)tCc>tTc p.S49F KIF1B_ENST00000377093.4_Missense_Mutation_p.S49F|KIF1B_ENST00000263934.6_Missense_Mutation_p.S49F|KIF1B_ENST00000377083.1_Missense_Mutation_p.S49F|KIF1B_ENST00000377081.1_Missense_Mutation_p.S49F O60333 KIF1B_HUMAN kinesin family member 1B 49 Kinesin-motor. 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) GCTCCAAAGTCCTTCAGCTTC 0.403000 41 68 0 0 0.000781405 0 0 USP43 124739 broad.mit.edu 37 17 9596507 9596507 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:9596507C>T ENST00000570827.2 + 9 1558 c.484C>T c.(484-486)Ccg>Tcg p.P162S USP43_ENST00000285199.6_Missense_Mutation_p.P473S|USP43_ENST00000570475.1_Missense_Mutation_p.P473S Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 473 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 CTATTTGTCTCCGAAGGACAG 0.517000 11 20 0 0 0.00136819 0 0 PCDH15 65217 broad.mit.edu 37 10 56138635 56138635 + Silent SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:56138635A>T ENST00000373965.2 - 4 619 c.225T>A c.(223-225)ctT>ctA p.L75L PCDH15_ENST00000395430.1_Silent_p.L75L|PCDH15_ENST00000395438.1_Silent_p.L75L|PCDH15_ENST00000414778.1_Silent_p.L80L|PCDH15_ENST00000437009.1_Silent_p.L75L|PCDH15_ENST00000361849.3_Silent_p.L75L|PCDH15_ENST00000395445.1_Silent_p.L75L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Silent_p.L75L|PCDH15_ENST00000373955.1_Silent_p.L75L|PCDH15_ENST00000395433.1_Silent_p.L53L|PCDH15_ENST00000373957.3_Silent_p.L53L|PCDH15_ENST00000395446.1_Silent_p.L75L|PCDH15_ENST00000395432.2_Silent_p.L75L|PCDH15_ENST00000395440.1_Silent_p.L75L|PCDH15_ENST00000395442.1_Silent_p.L75L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 75 Cadherin 1. 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) CCTTTAAAGAAAGTTCTATGG 0.428000 HNSCC(58;0.16) 15 87 0 0 0.000566183 0 0 AGAP10 728127 broad.mit.edu 37 10 47193377 47193377 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:47193377T>C ENST00000355232.3 - 9 3829 c.817A>G c.(817-819)Atg>Gtg p.M273V AGAP10_ENST00000452145.2_Missense_Mutation_p.M248V|AGAP10_ENST00000413193.2_Missense_Mutation_p.M293V ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 GACCAGCGCATGGACAGCTTG 0.582000 5 33 0 0 0.00116845 0 0 MAS1 4142 broad.mit.edu 37 6 160328623 160328623 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:160328623G>A ENST00000252660.4 + 1 650 c.636G>A c.(634-636)gtG>gtA p.V212V NM_002377.2 NP_002368.1 P04201 MAS_HUMAN MAS1 oncogene 212 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) TCTTGGTCGTGAAGATCCGGA 0.502000 20 25 0 0 0.00188189 0 0 TG 7038 broad.mit.edu 37 8 133881993 133881993 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:133881993G>A ENST00000220616.4 + 3 236 c.196G>A c.(196-198)Gac>Aac p.D66N TG_ENST00000377869.1_Missense_Mutation_p.D66N NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 66 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTGCCAGAACGACGGCCGCTC 0.637000 7 50 0 0 0.000274275 0 0 DNAH5 1767 broad.mit.edu 37 5 13850833 13850833 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:13850833C>T ENST00000265104.4 - 31 5146 c.5042G>A c.(5041-5043)gGa>gAa p.G1681E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1681 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) GGTCTCATCTCCAACACAGCA 0.478000 Kartagener syndrome 7 37 0 0 0.00198382 0 0 SPEF2 79925 broad.mit.edu 37 5 35712950 35712950 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:35712950G>A ENST00000440995.2 + 20 2861 c.2861G>A c.(2860-2862)gGa>gAa p.G954E CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.G959E Q9C093 SPEF2_HUMAN sperm flagellar 2 959 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTCAGGAAGGAAAAGGGAAG 0.348000 9 40 0 0 0.00136819 0 0 PRAM1 84106 broad.mit.edu 37 19 8564413 8564413 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:8564413C>T ENST00000423345.4 - 2 799 c.279G>A c.(277-279)aaG>aaA p.K93K PRAM1_ENST00000255612.3_Silent_p.K93K Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 141 8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GCGGGGGCTTCTTGGGGAGGT 0.657000 21 261 0 0 0.00178596 0 0 ZNF716 441234 broad.mit.edu 37 7 57528830 57528830 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:57528830C>T ENST00000420713.1 + 4 775 c.663C>T c.(661-663)tcC>tcT p.S221S NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 GTGGCAAATCCTTTAACTGCT 0.383000 4 5 0 0 0.00024832 0 0 LRRC7 57554 broad.mit.edu 37 1 70494040 70494040 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:70494040G>A ENST00000310961.5 + 19 2300 c.1882G>A c.(1882-1884)Gag>Aag p.E628K LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.E623K|RP11-181B18.1_ENST00000414132.1_RNA Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 623 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGCCCCAAAGGAGATTACAGT 0.393000 6 24 0 0 0.000157383 0 0 CCDC69 26112 broad.mit.edu 37 5 150578636 150578636 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:150578636C>T ENST00000355417.2 - 4 415 c.241G>A c.(241-243)Gaa>Aaa p.E81K CCDC69_ENST00000521308.1_5'UTR NM_015621.2 NP_056436.2 A6NI79 CCD69_HUMAN coiled-coil domain containing 69 81 haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1) 9 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCTCCCTTTCCTTCTCCACC 0.552000 11 67 0 0 0.00136819 0 0 KCNH5 27133 broad.mit.edu 37 14 63447677 63447677 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:63447677C>T ENST00000322893.7 - 6 1123 c.855G>A c.(853-855)agG>agA p.R285R KCNH5_ENST00000394968.1_Silent_p.R227R|KCNH5_ENST00000394964.2_Silent_p.R227R|KCNH5_ENST00000420622.2_Silent_p.R285R NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 285 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GATAGTTCATCCTTATGAGCT 0.413000 6 45 0 0 0.00116845 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560961 44560961 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:44560961C>T ENST00000332567.4 - 1 1027 c.675G>A c.(673-675)aaG>aaA p.K225K KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 225 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 ATTTGTGCCCCTTGCTGTGGC 0.617000 8 22 0 0 0.000274275 0 0 FGF13 2258 broad.mit.edu 37 X 137717808 137717808 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:137717808G>A ENST00000315930.6 - 4 1072 c.411C>T c.(409-411)ttC>ttT p.F137F FGF13_ENST00000441825.2_Silent_p.F118F|FGF13_ENST00000370603.3_Silent_p.F147F|FGF13_ENST00000541469.1_Silent_p.F91F|FGF13_ENST00000305414.4_Silent_p.F84F NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 137 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) ACTCAGGTGTGAAAAGTTCCT 0.358000 7 5 0 0 0.00198382 0 0 PRR12 57479 broad.mit.edu 37 19 50100028 50100028 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:50100028C>T ENST00000418929.2 + 4 2448 c.2436C>T c.(2434-2436)ccC>ccT p.P812P NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 503 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCCCCAGTCCCTCTCCCAGCG 0.726000 13 21 0 0 0.000566183 0 0 SNX14 57231 broad.mit.edu 37 6 86277278 86277278 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:86277278C>A ENST00000314673.3 - 5 611 c.435G>T c.(433-435)ttG>ttT p.L145F SNX14_ENST00000513865.1_Missense_Mutation_p.L145F|SNX14_ENST00000508980.1_5'UTR|RP11-321N4.5_ENST00000503906.1_3'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.L93F|SNX14_ENST00000369627.2_Missense_Mutation_p.L145F|SNX14_ENST00000346348.3_Intron NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 145 PXA. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) CAAAGTTTTCCAACACTAATT 0.269000 7 99 0.000673444 0.00297962 0.000673444 1 0 ZNF648 127665 broad.mit.edu 37 1 182026917 182026917 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:182026917C>T ENST00000339948.3 - 2 436 c.229G>A c.(229-231)Gag>Aag p.E77K NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 TTCTCTTCCTCTTTGCCCAGT 0.557000 15 36 0 0 0.000308642 0 0 ENTPD3 956 broad.mit.edu 37 3 40464885 40464885 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:40464885G>A ENST00000301825.3 + 9 1326 c.1208G>A c.(1207-1209)tGg>tAg p.W403* ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Nonsense_Mutation_p.W403*|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Nonsense_Mutation_p.W403* NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 403 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) TCACAGAATTGGAGTCAGGTC 0.388000 16 52 0 0 0.000566183 0 0 DNAH9 1770 broad.mit.edu 37 17 11584057 11584057 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:11584057G>A ENST00000262442.3 + 19 3662 c.3594G>A c.(3592-3594)tgG>tgA p.W1198* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.W1198* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1198 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) CTGAGAAATGGAACAACATAA 0.537000 11 23 0 0 0.00136819 0 0 AMER3 205147 broad.mit.edu 37 2 131520354 131520354 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:131520354G>A ENST00000423981.1 + 2 819 c.709G>A c.(709-711)Gac>Aac p.D237N AMER3_ENST00000321420.4_Missense_Mutation_p.D237N NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 CCTGTGTGAGGACGTGGCCTC 0.662000 22 123 0 0 0.000586117 0 0 CCDC105 126402 broad.mit.edu 37 19 15131429 15131429 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:15131429C>T ENST00000292574.3 + 3 914 c.832C>T c.(832-834)Cag>Tag p.Q278* NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 278 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 CACACAGGGTCAGAAAACGCC 0.602000 6 24 0 0 0.00198382 0 0 LPAL2 80350 broad.mit.edu 37 6 160905162 160905162 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:160905162C>T ENST00000335388.5 - 0 965 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) GCAGTCCCTTCTGTGTCTGAG 0.527000 15 33 0 0 0.000566183 0 0 FMO1 2326 broad.mit.edu 37 1 171251278 171251278 + Missense_Mutation SNP G G A rs149030329 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:171251278G>A ENST00000354841.4 + 6 1120 c.989G>A c.(988-990)gGa>gAa p.G330E FMO1_ENST00000367750.3_Missense_Mutation_p.G330E|FMO1_ENST00000402921.2_Missense_Mutation_p.G267E|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 330 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTGCCACTGGATACACATTT 0.413000 14 32 0 0 0.000958276 0 0 STXBP5L 9515 broad.mit.edu 37 3 121126217 121126217 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:121126217G>A ENST00000273666.6 + 24 3058 c.2787G>A c.(2785-2787)tgG>tgA p.W929* STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.W929*|STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.W903*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.W905*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.W905* NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 929 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane p.W929C(1) 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) AAAAATCTTGGAGAAGGAAAG 0.393000 5 21 0 0 0.000602214 0 0 EPHB2 2048 broad.mit.edu 37 1 23234541 23234541 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:23234541C>T ENST00000400191.3 + 12 2250 c.2232C>T c.(2230-2232)caC>caT p.H744H EPHB2_ENST00000374632.3_Silent_p.H745H|EPHB2_ENST00000374630.3_Silent_p.H744H|EPHB2_ENST00000374627.1_Silent_p.H739H NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 744 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) ACTATGTTCACCGTGACCTGG 0.557000 31 109 0 0 0.0024448 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31711946 31711946 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:31711946C>T ENST00000493662.2 + 7 624 c.568C>T c.(568-570)Cca>Tca p.P190S MSH5_ENST00000375740.3_Missense_Mutation_p.P190S|MSH5_ENST00000375703.3_Intron|MSH5_ENST00000375755.3_Intron|MSH5_ENST00000375742.3_Missense_Mutation_p.P190S|MSH5_ENST00000534153.4_Missense_Mutation_p.P190S|MSH5_ENST00000375750.3_Intron|MSH5_ENST00000482280.1_Intron TACCCCGATTCCACTGCTGAT 0.527000 82 167 0 0 0.000781405 0 0 UNC5D 137970 broad.mit.edu 37 8 35624420 35624420 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:35624420G>A ENST00000287272.2 + 14 2127 c.2106_splice c.e14-1 p.E703_splice UNC5D_ENST00000404895.2_Splice_Site_p.E772_splice|UNC5D_ENST00000449677.1_Splice_Site_p.E348_splice|UNC5D_ENST00000420357.1_Splice_Site_p.E705_splice|UNC5D_ENST00000416672.1_Splice_Site_p.E777_splice|UNC5D_ENST00000453357.2_Splice_Site_p.E767_splice Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 772 Interaction with DCC (By similarity). 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) TCCCCTGCAGGAAGTCCCGTT 0.562000 7 25 0 0 0.000157383 0 0 IDO2 169355 broad.mit.edu 37 8 39873107 39873107 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:39873107C>T ENST00000502986.2 + 11 1491 c.1249C>T c.(1249-1251)Cac>Tac p.H417Y IDO2_ENST00000389060.4_Missense_Mutation_p.H404Y|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 404 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 GTCAATCCTTCACCCACGTGG 0.577000 16 35 0 0 0.000308642 0 0 NOC2L 26155 broad.mit.edu 37 1 892520 892520 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:892520C>T ENST00000327044.6 - 3 362 c.313G>A c.(313-315)Gag>Aag p.E105K NOC2L_ENST00000487214.1_5'UTR NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 105 Poly-Glu. nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CCCTCTTCCTCCTCAGAGCTG 0.587000 50 178 0 0 0.000781405 0 0 DSG4 147409 broad.mit.edu 37 18 28991347 28991347 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:28991347G>A ENST00000359747.4 + 14 2377 c.2348G>A c.(2347-2349)gGa>gAa p.G783E RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G764E NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 764 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) TCTACCATGGGAACCCTGCGG 0.582000 5 40 0 0 0.000602214 0 0 NBEAL1 65065 broad.mit.edu 37 2 204078284 204078284 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:204078284C>T ENST00000449802.1 + 54 8224 c.7891C>T c.(7891-7893)Cat>Tat p.H2631Y NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2631 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ACTGCCTATCCATTGTGTTTG 0.383000 193 664 0 0 0.000781405 0 0 NRCAM 4897 broad.mit.edu 37 7 107820675 107820675 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:107820675G>A ENST00000379028.3 - 25 3313 c.2843C>T c.(2842-2844)cCa>cTa p.P948L NRCAM_ENST00000413765.2_Missense_Mutation_p.P929L|NRCAM_ENST00000379022.4_Missense_Mutation_p.P948L|NRCAM_ENST00000379024.4_Missense_Mutation_p.P929L|NRCAM_ENST00000351718.4_Missense_Mutation_p.P932L|NRCAM_ENST00000425651.2_Missense_Mutation_p.P948L Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 948 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 ACCTCCTTCTGGAGTATTAAA 0.507000 10 48 0 0 0.00136819 0 0 ATP13A4 84239 broad.mit.edu 37 3 193185121 193185121 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:193185121G>A ENST00000342695.4 - 10 1420 c.1098C>T c.(1096-1098)gcC>gcT p.A366A ATP13A4_ENST00000295548.3_Silent_p.A366A|ATP13A4_ENST00000392443.3_Silent_p.A366A NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 366 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GCAGTACCACGGCTCTCACGG 0.463000 14 30 0 0 0.000219431 0 0 DNAH5 1767 broad.mit.edu 37 5 13701430 13701430 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:13701430A>T ENST00000265104.4 - 77 13558 c.13454T>A c.(13453-13455)tTt>tAt p.F4485Y NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4485 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) GGGGTTAAAAAAACCCGTCAT 0.428000 Kartagener syndrome 12 48 0 0 0.000219431 0 0 OR8K1 390157 broad.mit.edu 37 11 56114225 56114225 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:56114225G>A ENST00000279783.2 + 1 805 c.711G>A c.(709-711)agG>agA p.R237R NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) TGAACTCAAGGAAAGGGAGGT 0.403000 HNSCC(65;0.19) 11 17 0 0 0.000978159 0 0 DUS4L 11062 broad.mit.edu 37 7 107211656 107211656 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:107211656C>T ENST00000265720.3 + 4 545 c.183C>T c.(181-183)gcC>gcT p.A61A DUS4L_ENST00000402620.1_5'UTR NM_001270419.1|NM_181581.2 NP_001257348.1|NP_853559.1 O95620 DUS4L_HUMAN dihydrouridine synthase 4-like (S. cerevisiae) 61 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 TGATTGTTGCCGCTGATTTTG 0.338000 25 53 0 0 0.000720815 0 0 SPTB 6710 broad.mit.edu 37 14 65240078 65240078 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:65240078C>T ENST00000389722.3 - 24 5091 c.5038G>A c.(5038-5040)Gaa>Aaa p.E1680K SPTB_ENST00000389720.3_Missense_Mutation_p.E1680K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1680K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1680K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1680K NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1680 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TTGCGCTCTTCCGCCACGTCC 0.557000 23 106 0 0 0.000878237 0 0 IGSF3 3321 broad.mit.edu 37 1 117122381 117122381 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:117122381G>A ENST00000369486.3 - 10 3732 c.2967C>T c.(2965-2967)gcC>gcT p.A989A IGSF3_ENST00000369483.1_Silent_p.A1009A|IGSF3_ENST00000318837.6_Silent_p.A1009A NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 989 Ig-like C2-type 8. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GGGAATACCAGGCCACAGCGA 0.607000 9 44 0 0 0.000978159 0 0 TTN 7273 broad.mit.edu 37 2 179585332 179585332 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179585332C>T ENST00000589042.1 - 80 23381 c.23157G>A c.(23155-23157)gtG>gtA p.V7719V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V6475V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.V7402V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7402 Ig-like 59. 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) ATTGGAGAATCACATCAGAAC 0.398000 5 28 0 0 0.000602214 0 0 ACAD11 84129 broad.mit.edu 37 3 132338315 132338315 + Silent SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:132338315G>T ENST00000264990.6 - 10 2243 c.1272C>A c.(1270-1272)ctC>ctA p.L424L ACAD11_ENST00000481970.2_Silent_p.L424L|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Silent_p.L424L NM_032169.4 NP_115545.3 acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 TTCTTACCTTGAGTTTATCAA 0.294000 6 115 0.00198382 0.0087276 0.00198382 1 0 PCDHB10 56126 broad.mit.edu 37 5 140574325 140574325 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140574325T>A ENST00000239446.4 + 1 2384 c.2200T>A c.(2200-2202)Ttt>Att p.F734I NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 734 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGGGTCCTTTTCCAGGGCA 0.657000 25 98 0 0 0.000491102 0 0 MUC16 94025 broad.mit.edu 37 19 9091108 9091108 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9091108G>A ENST00000397910.4 - 1 910 c.707C>T c.(706-708)tCc>tTc p.S236F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 236 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 GTCAAGGAAGGAAGAATAAAG 0.463000 18 62 0 0 0.00121646 0 0 CNKSR1 10256 broad.mit.edu 37 1 26511561 26511561 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:26511561G>A ENST00000531191.1 + 13 1425 c.418G>A c.(418-420)Gac>Aac p.D140N CNKSR1_ENST00000361530.6_Missense_Mutation_p.D398N|CNKSR1_ENST00000374253.5_Missense_Mutation_p.D405N Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 405 CRIC. 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) GGGCCGGCCGGACTGTGACGG 0.701000 22 29 0 0 0.00229938 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142513590 142513590 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:142513590A>T ENST00000378004.3 + 19 2112 c.1757A>T c.(1756-1758)aAg>aTg p.K586M ARHGAP26_ENST00000274498.4_Missense_Mutation_p.K586M NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 586 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGTCTCGGAAGAAGAGCAGT 0.532000 20 77 0 0 0.00121646 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101447342 101447342 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:101447342G>A ENST00000554693.2 + 0 635 SNORD114-20_ENST00000365178.1_RNA CCTGTCCTGTGGATCGATGAT 0.388000 10 54 0 0 0.000978159 0 0 ERC2 26059 broad.mit.edu 37 3 55922428 55922428 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:55922428G>A ENST00000288221.6 - 14 2808 c.2553C>T c.(2551-2553)atC>atT p.I851I NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 851 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) TCATCTCCAGGATCTCCTCCA 0.537000 30 90 0 0 0.000491102 0 0 COLGALT1 79709 broad.mit.edu 37 19 17690299 17690299 + Silent SNP C C T rs150637824 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:17690299C>T ENST00000252599.4 + 10 1395 c.1275C>T c.(1273-1275)gaC>gaT p.D425D NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 AGGTGGTGGACCGGGGGCTGC 0.562000 42 101 0 0 0.000589545 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146734 156146734 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:156146734C>T ENST00000368285.3 + 15 2499 c.2232C>T c.(2230-2232)acC>acT p.T744T SEMA4A_ENST00000355014.2_Silent_p.T744T|SEMA4A_ENST00000368282.1_Silent_p.T744T|SEMA4A_ENST00000368286.2_Silent_p.T612T|SEMA4A_ENST00000368284.1_Silent_p.T612T 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 744 axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) AATGCAGGACCTCTGCCAGTG 0.622000 9 34 0 0 0.000978159 0 0 PAK7 57144 broad.mit.edu 37 20 9561263 9561263 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:9561263C>T ENST00000378429.3 - 5 1065 c.519G>A c.(517-519)atG>atA p.M173I PAK7_ENST00000378423.1_Missense_Mutation_p.M173I|PAK7_ENST00000353224.5_Missense_Mutation_p.M173I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 173 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) GCTTCATTTTCATTACGTGCC 0.463000 31 123 0 0 0.000692331 0 0 MAP2K6 5608 broad.mit.edu 37 17 67411137 67411137 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:67411137G>A ENST00000590474.1 + 1 299 c.12G>A c.(10-12)tcG>tcA p.S4S NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 4 activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) TGTCTCAGTCGAAAGGTAAGA 0.433000 43 80 0 0 0.000781405 0 0 MCM3AP 8888 broad.mit.edu 37 21 47678887 47678887 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:47678887G>A ENST00000397708.1 - 17 3954 c.3700C>T c.(3700-3702)Cag>Tag p.Q1234* MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.Q1234*|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1234 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) TGAAGCTCCTGGAGGGTCTCC 0.507000 15 93 0 0 0.00074312 0 0 PRPF8 10594 broad.mit.edu 37 17 1585460 1585460 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:1585460G>A ENST00000572621.1 - 3 662 c.397C>T c.(397-399)Ccc>Tcc p.P133S PRPF8_ENST00000304992.6_Missense_Mutation_p.P133S Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 133 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ATGACCCAGGGAATCTCATTG 0.537000 22 23 0 0 0.00188189 0 0 REG3A 5068 broad.mit.edu 37 2 79385792 79385792 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:79385792G>A ENST00000393878.1 - 2 434 c.180C>T c.(178-180)tcC>tcT p.S60S REG3A_ENST00000305165.2_Silent_p.S60S|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Silent_p.S60S NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 60 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 CATCTGTCCAGGATTTTGGTG 0.547000 20 30 0 0 0.000878237 0 0 BDP1 55814 broad.mit.edu 37 5 70845413 70845413 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:70845413C>T ENST00000358731.4 + 34 7238 c.6975C>T c.(6973-6975)acC>acT p.T2325T BDP1_ENST00000380675.2_Intron NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2325 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CAGTGAATACCGAAGAAAGGG 0.408000 11 78 0 0 0.00136819 0 0 DCBLD2 131566 broad.mit.edu 37 3 98538094 98538094 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:98538094C>T ENST00000326840.6 - 8 1401 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K DCBLD2_ENST00000326857.9_Missense_Mutation_p.E347K NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 347 F5/8 type C. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 CACTGGTATTCATCAGTGGCA 0.388000 4 9 0 0 0.00024832 0 0 DYTN 391475 broad.mit.edu 37 2 207575313 207575313 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:207575313T>A ENST00000452335.2 - 2 145 c.29A>T c.(28-30)aAt>aTt p.N10I NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 10 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) CTCAATACTATTAAGAGCATC 0.318000 10 29 0 0 0.000442599 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90572291 90572291 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:90572291C>T ENST00000551025.1 + 0 2300 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CAAGGACATCCTGAGAAATAT 0.388000 74 122 0 0 0.000781405 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516557 140516557 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140516557C>T ENST00000231134.5 + 1 1758 c.1541C>T c.(1540-1542)gCc>gTc p.A514V NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 514 Cadherin 5. 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) CACCTGTTTGCCCTCAGGTCG 0.697000 23 89 0 0 0.000878237 0 0 EVPL 2125 broad.mit.edu 37 17 74004096 74004096 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:74004096C>T ENST00000301607.3 - 22 5443 c.5190G>A c.(5188-5190)ggG>ggA p.G1730G EVPL_ENST00000586740.1_Silent_p.G1752G NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1730 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 CCCCACAGGGCCCCGAGGTGG 0.642000 11 31 0 0 0.000978159 0 0 OR1B1 347169 broad.mit.edu 37 9 125391017 125391017 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:125391017G>A ENST00000304833.3 - 1 835 c.798C>T c.(796-798)ttC>ttT p.F266F RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA NM_001004450.1 NP_001004450.1 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, member 1 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 AGGGAGGCTGGAAGTAGACAC 0.522000 14 38 0 0 0.000308642 0 0 CCDC146 57639 broad.mit.edu 37 7 76903933 76903933 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:76903933A>T ENST00000285871.4 + 11 1531 c.1404A>T c.(1402-1404)gaA>gaT p.E468D CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E182D NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 468 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AAATTGATGAAAAGGAACAAA 0.358000 11 26 0 0 0.000308642 0 0 C1QTNF4 114900 broad.mit.edu 37 11 47611798 47611798 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:47611798C>T ENST00000302514.3 - 2 1081 c.565G>A c.(565-567)Ggc>Agc p.G189S NM_031909.2 NP_114115.2 Q9BXJ3 C1QT4_HUMAN C1q and tumor necrosis factor related protein 4 189 C1q 2. extracellular region breast(2)|endometrium(1)|kidney(1)|lung(2) 6 GCGTCCGAGCCCACCAAGCTG 0.766000 5 8 0 0 0.000602214 0 0 ADCY10 55811 broad.mit.edu 37 1 167815065 167815065 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:167815065C>T ENST00000367848.1 - 21 2964 c.2467G>A c.(2467-2469)Gaa>Aaa p.E823K ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.E762K|ADCY10_ENST00000367851.4_Missense_Mutation_p.E915K Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 915 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TTCTCCAGTTCACGAAGCTGT 0.498000 14 27 0 0 0.000422831 0 0 GPR68 8111 broad.mit.edu 37 14 91700924 91700924 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:91700924C>T ENST00000531499.2 - 2 810 c.471G>A c.(469-471)ctG>ctA p.L157L GPR68_ENST00000238699.3_Silent_p.L167L|GPR68_ENST00000535815.1_Silent_p.L157L Q15743 OGR1_HUMAN G protein-coupled receptor 68 157 inflammatory response integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 8 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) CCTCGTGCATCAGGAAGTAGA 0.622000 11 29 0 0 0.000978159 0 0 RIMS2 9699 broad.mit.edu 37 8 105263289 105263289 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:105263289C>T ENST00000507740.1 + 21 3407 c.3171C>T c.(3169-3171)gtC>gtT p.V1057V RIMS2_ENST00000339750.2_Silent_p.V179V|RIMS2_ENST00000436393.2_Silent_p.V1261V|RIMS2_ENST00000406091.3_Silent_p.V1243V|RIMS2_ENST00000262231.10_Silent_p.V1082V NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1305 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) ATAACGGAGTCTGCATAGCCA 0.408000 HNSCC(12;0.0054) 6 32 0 0 0.00116845 0 0 OXSM 54995 broad.mit.edu 37 3 25832607 25832607 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:25832607C>T ENST00000280701.3 + 2 195 c.96C>T c.(94-96)ttC>ttT p.F32F OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Silent_p.F32F NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 32 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 GGAAGTTTTTCGGAACTGTGC 0.418000 46 104 0 0 0.000781405 0 0 POLR3A 11128 broad.mit.edu 37 10 79785499 79785499 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:79785499G>A ENST00000372371.3 - 3 336 c.199C>T c.(199-201)Cgt>Tgt p.R67C NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 67 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) TCACATGGACGATCCTTCTCA 0.502000 13 63 0 0 0.000219431 0 0 IP6K1 9807 broad.mit.edu 37 3 49765668 49765668 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:49765668G>A ENST00000321599.4 - 5 961 c.660C>T c.(658-660)ccC>ccT p.P220P IP6K1_ENST00000468463.1_Silent_p.P220P|IP6K1_ENST00000460540.1_Silent_p.P55P|IP6K1_ENST00000395238.1_Silent_p.P55P NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 220 Substrate binding (By similarity). phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 CCAACACGCAGGGGTACTTGA 0.592000 17 64 0 0 0.00074312 0 0 RASL11A 387496 broad.mit.edu 37 13 27847274 27847274 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:27847274C>T ENST00000241463.4 + 4 990 c.372C>T c.(370-372)atC>atT p.I124I RASL11A_ENST00000480803.1_3'UTR NM_206827.1 NP_996563.1 Q6T310 RSLBA_HUMAN RAS-like, family 11, member A 124 Small GTPase-like. positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent membrane|nucleolus GTP binding|GTPase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 10 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164) ACTTGTCCATCCGACCCCTTT 0.572000 8 46 0 0 0.000157383 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209948796 209948796 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:209948796G>A ENST00000367024.1 + 10 1393 c.877G>A c.(877-879)Gag>Aag p.E293K TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.E29K|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E273K|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.E29K|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E273K|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E273K|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E293K Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 293 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) AGTGCTGGAGGAGAAAATGAA 0.512000 12 39 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179611120 179611120 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179611120A>T ENST00000360870.5 - 46 16229 c.16007T>A c.(16006-16008)tTt>tAt p.F5336Y TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8847 Ig-like 34. 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) GTCAGGAGTAAATTCGGGAAC 0.358000 7 15 0 0 0.00198382 0 0 TRBV5-7 28608 broad.mit.edu 37 7 142111847 142111847 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:142111847G>A ENST00000390378.1 - 0 12 CAGCAGAGGAGCCCGGGGCCC 0.602000 4 19 0 0 0.00116845 0 0 AADAC 13 broad.mit.edu 37 3 151545949 151545949 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:151545949G>A ENST00000232892.6 + 5 1315 c.1189G>A c.(1189-1191)Gaa>Aaa p.E397K RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 397 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GTGGCTAAAGGAAAATCTATA 0.303000 13 19 0 0 0.00136819 0 0 MMRN1 22915 broad.mit.edu 37 4 90844324 90844324 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:90844324G>A ENST00000394980.1 + 5 1175 c.856G>A c.(856-858)Gaa>Aaa p.E286K MMRN1_ENST00000394981.1_Missense_Mutation_p.E252K|MMRN1_ENST00000264790.2_Missense_Mutation_p.E286K|MMRN1_ENST00000508372.1_Missense_Mutation_p.E28K Q13201 MMRN1_HUMAN multimerin 1 286 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TCTAGCCCAGGAACAGCAAAG 0.483000 17 74 0 0 0.000566183 0 0 PHF10 55274 broad.mit.edu 37 6 170112562 170112562 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:170112562G>A ENST00000339209.4 - 8 1000 c.877C>T c.(877-879)Cct>Tct p.P293S PHF10_ENST00000366780.4_Missense_Mutation_p.P291S NM_018288.3|NM_133325.2 NP_060758.2|NP_579866.2 Q8WUB8 PHF10_HUMAN PHD finger protein 10 293 Essential to induce neural progenitor proliferation (By similarity).|SAY. nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1) 14 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) TCTAGAGCAGGGAGCTCAGGA 0.473000 33 82 0 0 0.00128727 0 0 MRPL19 9801 broad.mit.edu 37 2 75882273 75882273 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:75882273T>C ENST00000393909.2 + 6 766 c.741T>C c.(739-741)ctT>ctC p.L247L MRPL19_ENST00000409374.1_Silent_p.L247L|MRPL19_ENST00000358788.6_Intron NM_014763.3 NP_055578.2 P49406 RM19_HUMAN mitochondrial ribosomal protein L19 247 translation mitochondrion|nuclear membrane|ribosome structural constituent of ribosome kidney(1)|large_intestine(1)|lung(6) 8 GATTTGATCTTTGTTTAACTG 0.348000 13 29 0 0 0.000422831 0 0 C1orf173 127254 broad.mit.edu 37 1 75037778 75037778 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:75037778C>T ENST00000326665.5 - 14 3834 c.3616G>A c.(3616-3618)Gaa>Aaa p.E1206K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1206 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CGGTGCCCTTCCTTCAGGGCC 0.592000 29 103 0 0 0.000491102 0 0 TENM2 57451 broad.mit.edu 37 5 167420062 167420062 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:167420062G>A ENST00000519204.1 + 4 816 c.698G>A c.(697-699)aGg>aAg p.R233K TENM2_ENST00000518659.1_Missense_Mutation_p.R354K|TENM2_ENST00000545108.1_Missense_Mutation_p.R354K|TENM2_ENST00000403607.2_Missense_Mutation_p.R187K|TENM2_ENST00000520394.1_Missense_Mutation_p.R163K teneurin transmembrane protein 2 CTGCTGCCCAGGAATACTTTC 0.597000 11 38 0 0 0.00136819 0 0 UROC1 131669 broad.mit.edu 37 3 126229626 126229626 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:126229626C>A ENST00000290868.2 - 2 191 c.138G>T c.(136-138)agG>agT p.R46S UROC1_ENST00000383579.3_Missense_Mutation_p.R46S NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 46 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) GCAGGGCGTTCCTCAGCGCCA 0.642000 10 36 0.000978159 0.00432453 0.000978159 1 0 OR2C3 81472 broad.mit.edu 37 1 247695301 247695301 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:247695301C>T ENST00000366487.3 - 2 874 c.513G>A c.(511-513)ggG>ggA p.G171G GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-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) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGCAATTGTTCCCACACAGCG 0.562000 16 19 0 0 0.000422831 0 0 C6 729 broad.mit.edu 37 5 41160246 41160246 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:41160246G>A ENST00000263413.3 - 11 1946 c.1682C>T c.(1681-1683)tCc>tTc p.S561F C6_ENST00000337836.5_Missense_Mutation_p.S561F NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 561 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) ATACTTACTGGATTTATAATC 0.403000 15 27 0 0 0.000422831 0 0 GRIN3B 116444 broad.mit.edu 37 19 1003133 1003133 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:1003133C>T ENST00000234389.3 + 2 450 c.431C>T c.(430-432)cCa>cTa p.P144L NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 144 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TCCCAGAACCCATTCCACCTG 0.667000 6 4 0 0 0.00198382 0 0 MYH4 4622 broad.mit.edu 37 17 10357202 10357202 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:10357202C>T ENST00000255381.2 - 23 2802 c.2691_splice c.e23-1 p.E898_splice CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 898 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 GCATCTGCTTCCTAAAGGGAG 0.368000 59 85 0 0 0.000781405 0 0 CPAMD8 27151 broad.mit.edu 37 19 17039941 17039941 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:17039941C>T ENST00000443236.1 - 24 3127 c.3096G>A c.(3094-3096)gtG>gtA p.V1032V NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 985 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 AAGACAAGGCCACACGGGCAT 0.587000 16 43 0 0 0.000566183 0 0 MYO18B 84700 broad.mit.edu 37 22 26164179 26164179 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:26164179C>T ENST00000335473.7 + 4 546 c.296C>T c.(295-297)cCt>cTt p.P99L MYO18B_ENST00000536101.1_Missense_Mutation_p.P99L|MYO18B_ENST00000407587.2_Missense_Mutation_p.P99L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 99 Ser-rich. 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 TCAAGCTCTCCTGGGAGCTCA 0.587000 50 95 0 0 0.000781405 0 0 IREB2 3658 broad.mit.edu 37 15 78789604 78789604 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:78789604C>T ENST00000258886.8 + 21 2881 c.2732C>T c.(2731-2733)tCt>tTt p.S911F NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 911 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) GAAACATTTTCTTTAACATTT 0.348000 8 39 0 0 0.000157383 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367487 234367487 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:234367487G>A ENST00000366618.3 + 3 753 c.608_splice c.e3+1 p.R203_splice SLC35F3_ENST00000366617.3_Splice_Site_p.R134_splice NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 134 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CAGCGATACAGGTAGGCGCGT 0.602000 24 72 0 0 0.00127121 0 0 GPR128 84873 broad.mit.edu 37 3 100413737 100413737 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:100413737C>T ENST00000273352.3 + 16 2554 c.2286C>T c.(2284-2286)ttC>ttT p.F762F GPR128_ENST00000475887.1_Silent_p.F467F|GPR128_ENST00000481506.1_3'UTR NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 762 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 TGTATAATTTCCTCAGGTCAT 0.458000 15 68 0 0 0.000422831 0 0 SLC30A9 10463 broad.mit.edu 37 4 42080259 42080259 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:42080259C>T ENST00000264451.6 + 17 1759 c.1579C>T c.(1579-1581)Cta>Tta p.L527L NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 527 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCTGAAGAACTAGAGACCTT 0.294000 23 101 0 0 0.00047179 0 0 GIGYF2 26058 broad.mit.edu 37 2 233674505 233674505 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:233674505C>A ENST00000373566.3 + 17 2145 c.1948C>A c.(1948-1950)Cag>Aag p.Q650K GIGYF2_ENST00000452341.2_Missense_Mutation_p.Q459K|GIGYF2_ENST00000409451.3_Missense_Mutation_p.Q649K|GIGYF2_ENST00000409547.1_Missense_Mutation_p.Q628K|GIGYF2_ENST00000409196.3_Missense_Mutation_p.Q622K|GIGYF2_ENST00000373563.4_Missense_Mutation_p.Q628K|GIGYF2_ENST00000409480.1_Missense_Mutation_p.Q650K Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 628 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) CCTGCAGTACCAGCAGTTTTT 0.443000 7 143 0.000274275 0.00121629 0.000274275 1 0 EIF4G1 1981 broad.mit.edu 37 3 184043652 184043652 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:184043652C>T ENST00000342981.4 + 20 3552 c.3138C>T c.(3136-3138)ccC>ccT p.P1046P EIF4G1_ENST00000411531.1_Silent_p.P1006P|EIF4G1_ENST00000350481.5_Silent_p.P881P|EIF4G1_ENST00000427845.1_Silent_p.P959P|EIF4G1_ENST00000434061.2_Silent_p.P850P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Silent_p.P1045P|EIF4G1_ENST00000435046.2_Silent_p.P849P|EIF4G1_ENST00000382330.3_Silent_p.P1052P|EIF4G1_ENST00000424196.1_Silent_p.P1052P|EIF4G1_ENST00000392537.2_Silent_p.P958P|EIF4G1_ENST00000441154.1_Silent_p.P882P|EIF4G1_ENST00000414031.1_Silent_p.P1005P|EIF4G1_ENST00000319274.6_Silent_p.P1045P|EIF4G1_ENST00000352767.3_Silent_p.P1052P NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1045 eIF3/EIF4A-binding. 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) GTGGACTTCCCCTTGTGGATG 0.557000 68 208 0 0 0.000781405 0 0 NOBOX 135935 broad.mit.edu 37 7 144097286 144097286 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:144097286C>T ENST00000467773.1 - 5 963 c.964G>A c.(964-966)Ggc>Agc p.G322S NOBOX_ENST00000223140.5_Intron|NOBOX_ENST00000483238.1_Intron NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 322 cell differentiation|oogenesis nucleus sequence-specific DNA binding 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) ACCAGTGAGCCGGCCCCCTTT 0.582000 18 74 0 0 0.00188189 0 0 RHPN2 85415 broad.mit.edu 37 19 33482830 33482830 + Missense_Mutation SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:33482830G>C ENST00000254260.3 - 13 1578 c.1543C>G c.(1543-1545)Cga>Gga p.R515G RHPN2_ENST00000400226.4_Missense_Mutation_p.R364G NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 515 PDZ. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) CGGATGCTTCGAGGAGGCGTC 0.547000 12 37 0 0 0.000422831 0 0 DPH5 51611 broad.mit.edu 37 1 101479281 101479281 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:101479281G>A ENST00000370109.3 - 4 466 c.354C>T c.(352-354)ggC>ggT p.G118G DPH5_ENST00000488176.1_Silent_p.G118G|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.G118G NM_001077394.1|NM_001077395.1|NM_015958.2 NP_001070862.1|NP_001070863.1|NP_057042.2 Q9H2P9 DPH5_HUMAN diphthamide biosynthesis 5 118 peptidyl-diphthamide biosynthetic process from peptidyl-histidine diphthine synthase activity endometrium(2)|large_intestine(1)|lung(4) 7 all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198) AACCACAGCAGCCTACAGCAT 0.343000 71 79 0 0 0.000781405 0 0 LRRC49 54839 broad.mit.edu 37 15 71302271 71302271 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:71302271G>A ENST00000260382.5 + 13 1793 c.1533G>A c.(1531-1533)tgG>tgA p.W511* LRRC49_ENST00000560691.1_Nonsense_Mutation_p.W217*|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Nonsense_Mutation_p.W467*|LRRC49_ENST00000560369.1_Nonsense_Mutation_p.W516*|LRRC49_ENST00000544974.2_Nonsense_Mutation_p.W501*|LRRC49_ENST00000560158.2_Nonsense_Mutation_p.W199* NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 511 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 TTACACTCTGGAAATACTATG 0.358000 10 47 0 0 0.000673444 0 0 NRP1 8829 broad.mit.edu 37 10 33474637 33474637 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:33474637C>T ENST00000265371.4 - 16 2875 c.2350G>A c.(2350-2352)Gaa>Aaa p.E784K NRP1_ENST00000395995.1_Missense_Mutation_p.E784K|NRP1_ENST00000374867.2_Missense_Mutation_p.E784K O14786 NRP1_HUMAN neuropilin 1 784 MAM. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) TTTCCGATTTCGCCCTCGAAA 0.393000 16 35 0 0 0.00074312 0 0 LRP1B 53353 broad.mit.edu 37 2 141283561 141283561 + Splice_Site SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:141283561A>G ENST00000389484.3 - 49 8849 c.7876_splice c.e49-1 p.N2626_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2626 LDL-receptor class A 13. 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) AGTCTGTGTTATCTAGAAGAA 0.363000 TSP Lung(27;0.18) 5 12 0 0 0.00198382 0 0 SAMD9L 219285 broad.mit.edu 37 7 92760610 92760610 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:92760610C>T ENST00000318238.4 - 5 5891 c.4675G>A c.(4675-4677)Ggt>Agt p.G1559S SAMD9L_ENST00000411955.1_Missense_Mutation_p.G1559S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.G1559S NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1559 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) ATGTTCCTACCACTTCTGAGT 0.373000 7 22 0 0 0.00198382 0 0 GON4L 54856 broad.mit.edu 37 1 155792092 155792092 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:155792092G>A ENST00000437809.1 - 4 995 c.873C>T c.(871-873)gtC>gtT p.V291V GON4L_ENST00000271883.5_Silent_p.V291V|GON4L_ENST00000361040.5_Silent_p.V291V|GON4L_ENST00000368331.1_Silent_p.V291V|GON4L_ENST00000471341.1_5'UTR Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 291 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GGATGTTTCGGACATTGACTG 0.433000 26 128 0 0 0.001512 0 0 SVEP1 79987 broad.mit.edu 37 9 113275290 113275290 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:113275290G>A ENST00000401783.2 - 5 1555 c.1219C>T c.(1219-1221)Cac>Tac p.H407Y SVEP1_ENST00000374461.1_Missense_Mutation_p.H384Y|SVEP1_ENST00000302728.8_Missense_Mutation_p.H407Y|SVEP1_ENST00000374469.1_Missense_Mutation_p.H384Y|SVEP1_ENST00000467821.1_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 407 Sushi 1. 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 AATCCAGGGTGACATCGGACC 0.493000 22 53 0 0 0.00229938 0 0 C2orf78 388960 broad.mit.edu 37 2 74042871 74042871 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:74042871C>T ENST00000409561.1 + 3 1642 c.1521C>T c.(1519-1521)tcC>tcT p.S507S NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 507 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 ATAAAGCTTCCGAGCCTATCC 0.473000 9 15 0 0 0.000274275 0 0 ZNF407 55628 broad.mit.edu 37 18 72775756 72775756 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:72775756G>A ENST00000299687.5 + 8 6079 c.6079G>A c.(6079-6081)Gag>Aag p.E2027K NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 2027 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GCCCGGGCAGGAGGTCTCCCA 0.692000 11 36 0 0 0.000219431 0 0 RRBP1 6238 broad.mit.edu 37 20 17596138 17596138 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:17596138C>T ENST00000377813.1 - 23 4291 c.3988G>A c.(3988-3990)Gag>Aag p.E1330K RRBP1_ENST00000246043.4_Missense_Mutation_p.E1330K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E897K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E671K|RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000360807.4_Missense_Mutation_p.E897K Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1330 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 CGGAGCTTCTCCAATTCTTCT 0.602000 10 32 0 0 0.00185496 0 0 CYFIP2 26999 broad.mit.edu 37 5 156752617 156752617 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:156752617C>T ENST00000347377.6 + 17 2384 c.1953C>T c.(1951-1953)atC>atT p.I651I CYFIP2_ENST00000521420.1_Silent_p.I625I|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.I455I|CYFIP2_ENST00000377576.3_Silent_p.I651I|CYFIP2_ENST00000435847.2_Silent_p.I350I|CYFIP2_ENST00000541131.1_Silent_p.I576I|CYFIP2_ENST00000318218.6_Silent_p.I676I|CYFIP2_ENST00000442283.2_5'UTR NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 676 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) CGGACCATATCCTGGAAACCA 0.542000 43 175 0 0 0.000509022 0 0 PTPRN2 5799 broad.mit.edu 37 7 157931004 157931004 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:157931004G>A ENST00000389413.3 - 7 1217 c.1114C>T c.(1114-1116)Cgt>Tgt p.R372C PTPRN2_ENST00000404321.2_Missense_Mutation_p.R395C|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R355C|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R372C|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R334C NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 372 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R372C(1) 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) CTGTCTCCACGGAGGGTGGCC 0.677000 8 40 0 0 0.000274275 0 0 GJD2 57369 broad.mit.edu 37 15 35045253 35045253 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:35045253C>T ENST00000290374.4 - 2 868 c.392G>A c.(391-393)gGg>gAg p.G131E NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 131 Poly-Gly. synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GCCCCCACCCCCAGTTCCTCC 0.562000 24 82 0 0 0.000375601 0 0 MOB3B 79817 broad.mit.edu 37 9 27455544 27455544 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:27455544G>A ENST00000262244.5 - 2 429 c.5C>T c.(4-6)tCc>tTc p.S2F NM_024761.4 NP_079037.3 Q86TA1 MOL2B_HUMAN MOB kinase activator 3B 2 metal ion binding|protein binding CAGGGCTATGGACATGGTCTT 0.498000 22 89 0 0 0.000586117 0 0 TTN 7273 broad.mit.edu 37 2 179581857 179581857 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179581857C>T ENST00000589042.1 - 88 25828 c.25604G>A c.(25603-25605)gGa>gAa p.G8535E TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7291E|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8218E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8218 Ig-like 68. 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) AGAGTCTTTTCCAGCGATGTT 0.433000 12 36 0 0 0.000219431 0 0 MRPL55 128308 broad.mit.edu 37 1 228295420 228295420 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:228295420C>T ENST00000366731.5 - 5 1078 c.285G>A c.(283-285)caG>caA p.Q95Q MRPL55_ENST00000366747.3_Silent_p.Q59Q|MRPL55_ENST00000411464.2_Silent_p.Q59Q|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000391867.3_Silent_p.Q59Q|MRPL55_ENST00000366733.1_Silent_p.Q59Q|MRPL55_ENST00000366732.1_Silent_p.Q56Q|MRPL55_ENST00000366734.1_Silent_p.Q59Q|MRPL55_ENST00000366738.1_Silent_p.Q95Q|MRPL55_ENST00000366739.1_Silent_p.Q59Q|MRPL55_ENST00000430433.1_Silent_p.Q95Q|MRPL55_ENST00000348259.5_Silent_p.Q59Q|MRPL55_ENST00000366740.1_Silent_p.Q59Q|MRPL55_ENST00000336300.5_Silent_p.Q59Q|MRPL55_ENST00000366735.1_Silent_p.Q59Q|MRPL55_ENST00000366744.1_Silent_p.Q59Q|MRPL55_ENST00000366736.1_Silent_p.Q59Q|MRPL55_ENST00000366746.3_Silent_p.Q59Q|MRPL55_ENST00000336520.3_Silent_p.Q59Q|MRPL55_ENST00000295008.4_Silent_p.Q59Q|MRPL55_ENST00000366741.1_Silent_p.Q59Q|MRPL55_ENST00000366742.1_Silent_p.Q59Q Q7Z7F7 RM55_HUMAN mitochondrial ribosomal protein L55 59 translation mitochondrial large ribosomal subunit structural constituent of ribosome central_nervous_system(1)|lung(4) 5 Prostate(94;0.0405) TGGAGCCATCCTGCTTCACCA 0.647000 19 35 0 0 0.00152264 0 0 MYOM2 9172 broad.mit.edu 37 8 2044150 2044150 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:2044150G>A ENST00000262113.4 + 18 2330 c.2189G>A c.(2188-2190)gGc>gAc p.G730D MYOM2_ENST00000523438.1_Missense_Mutation_p.G155D NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 730 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ATGACCCTCGGCTGGAAGGTC 0.567000 31 81 0 0 0.00111076 0 0 C10orf71 118461 broad.mit.edu 37 10 50531439 50531439 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:50531439C>T ENST00000374144.3 + 3 1137 c.849C>T c.(847-849)caC>caT p.H283H C10orf71_ENST00000323868.4_Silent_p.H283H Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 283 endometrium(1) 1 GGAATGCCCACCAACCAAAGC 0.537000 6 22 0 0 0.00116845 0 0 OR4D5 219875 broad.mit.edu 37 11 123810527 123810527 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:123810527C>T ENST00000307033.2 + 1 278 c.204C>T c.(202-204)ttC>ttT p.F68F NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F68F(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 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;0.0399) ATCTTTCTTTCCTGGACTTTT 0.463000 37 59 0 0 0.000953801 0 0 AOC1 26 broad.mit.edu 37 7 150555106 150555106 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:150555106C>T ENST00000493429.1 + 4 2132 c.1548C>T c.(1546-1548)taC>taT p.Y516Y AOC1_ENST00000467291.1_Silent_p.Y516Y|AOC1_ENST00000360937.4_Silent_p.Y516Y|AOC1_ENST00000416793.2_Silent_p.Y516Y|AOC1_ENST00000480582.1_3'UTR amine oxidase, copper containing 1 TGGTGCACTACCGCGTAGACC 0.572000 33 66 0 0 0.00148497 0 0 ATP6V0B 533 broad.mit.edu 37 1 44442945 44442945 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:44442945C>T ENST00000532642.1 + 7 745 c.648C>T c.(646-648)ctC>ctT p.L216L ATP6V0B_ENST00000498664.1_Intron|ATP6V0B_ENST00000471859.2_Intron|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000472174.2_Intron Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b 113 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity breast(2)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GCCTTACCCTCCTTCTGGAGA 0.507000 8 51 0 0 0.000157383 0 0 ARRDC5 645432 broad.mit.edu 37 19 4891160 4891160 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:4891160C>T ENST00000381781.2 - 3 926 c.927G>A c.(925-927)aaG>aaA p.K309K NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 309 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) GAACTTTGGCCTTGAGGCTGG 0.592000 63 184 0 0 0.000781405 0 0 HAVCR1 26762 broad.mit.edu 37 5 156479658 156479658 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:156479658G>A ENST00000339252.3 - 3 919 c.387C>T c.(385-387)gtC>gtT p.V129V HAVCR1_ENST00000544197.1_Silent_p.V129V|HAVCR1_ENST00000523175.1_Silent_p.V129V|HAVCR1_ENST00000522693.1_Silent_p.V129V|HAVCR1_ENST00000425854.1_Silent_p.V129V NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 129 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAGTAGTCGTGACCTTGGCTG 0.483000 90 402 0 0 0.000781405 0 0 TRIO 7204 broad.mit.edu 37 5 14369570 14369570 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:14369570G>A ENST00000344204.4 + 18 3178 c.3154G>A c.(3154-3156)Gag>Aag p.E1052K TRIO_ENST00000537187.1_Missense_Mutation_p.E1052K|TRIO_ENST00000509967.2_Missense_Mutation_p.E1003K NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1052 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CCCAAACTCTGAGACGGACCA 0.602000 9 57 0 0 0.000442599 0 0 GRB10 2887 broad.mit.edu 37 7 50672025 50672025 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:50672025G>A ENST00000403097.1 - 15 2201 c.1421C>T c.(1420-1422)cCt>cTt p.P474L GRB10_ENST00000402497.1_Missense_Mutation_p.P422L|GRB10_ENST00000402578.1_Missense_Mutation_p.P422L|GRB10_ENST00000335866.3_Missense_Mutation_p.P422L|GRB10_ENST00000401949.1_Missense_Mutation_p.P480L|GRB10_ENST00000406641.1_Missense_Mutation_p.P422L|GRB10_ENST00000398810.2_Missense_Mutation_p.P422L|GRB10_ENST00000357271.5_Missense_Mutation_p.P434L|GRB10_ENST00000439599.1_Missense_Mutation_p.P474L|GRB10_ENST00000398812.2_Missense_Mutation_p.P480L|GRB10_ENST00000407526.1_Missense_Mutation_p.P422L Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 480 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) TAGGGTAGAAGGGTGGAGGGG 0.493000 Russell-Silver syndrome 33 87 0 0 0.00128727 0 0 OBSCN 84033 broad.mit.edu 37 1 228509535 228509535 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:228509535C>T ENST00000570156.2 + 66 17938 c.17864C>T c.(17863-17865)tCc>tTc p.S5955F OBSCN_ENST00000422127.1_Missense_Mutation_p.S4998F|OBSCN_ENST00000366707.4_Missense_Mutation_p.S2632F|OBSCN_ENST00000366709.4_Missense_Mutation_p.S2117F|OBSCN_ENST00000284548.11_Missense_Mutation_p.S4998F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4998 PH. 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) GCCGAGAGCTCCTCTGGGGGT 0.617000 13 125 0 0 0.000566183 0 0 CEP152 22995 broad.mit.edu 37 15 49073521 49073521 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:49073521G>A ENST00000380950.2 - 12 1636 c.1449C>T c.(1447-1449)ctC>ctT p.L483L CEP152_ENST00000325747.5_Silent_p.L390L|CEP152_ENST00000399334.3_Silent_p.L483L NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 483 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CAGATTCATAGAGAGAAATTT 0.299000 12 108 0 0 0.000219431 0 0 INPP5D 3635 broad.mit.edu 37 2 234106806 234106806 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:234106806C>T ENST00000359570.5 + 27 2723 c.2723C>T c.(2722-2724)cCc>cTc p.P908L INPP5D_ENST00000450745.1_Missense_Mutation_p.P672L|INPP5D_ENST00000455936.2_Missense_Mutation_p.P672L Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 920 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GGAGTGGGGCCCTTTGGGCCA 0.632000 6 28 0 0 0.00198382 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67214391 67214391 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:67214391C>T ENST00000290881.7 - 3 1049 c.123G>A c.(121-123)tgG>tgA p.W41* KIAA0895L_ENST00000563902.1_Nonsense_Mutation_p.W41*|KIAA0895L_ENST00000561621.1_Nonsense_Mutation_p.W41*|KIAA0895L_ENST00000563831.2_Intron Q68EN5 K895L_HUMAN KIAA0895-like 41 Pro-rich. breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 GGGACTGAGACCAGGGGTACA 0.677000 20 36 0 0 0.00121646 0 0 PLEKHN1 84069 broad.mit.edu 37 1 906161 906161 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:906161C>T ENST00000379409.2 + 5 537 c.507C>T c.(505-507)gcC>gcT p.A169A PLEKHN1_ENST00000379407.2_Intron|PLEKHN1_ENST00000379410.3_Intron Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 169 PH 1. central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 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;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CTTCCCGGGCCCCCAGAGGCA 0.672000 13 36 0 0 0.000219431 0 0 SMYD1 150572 broad.mit.edu 37 2 88405880 88405880 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:88405880G>A ENST00000419482.2 + 8 1103 c.1018G>A c.(1018-1020)Gag>Aag p.E340K SMYD1_ENST00000444564.2_Missense_Mutation_p.E327K|SMYD1_ENST00000438570.1_Intron NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 GGAGAAGCAGGAGCCAGTGTT 0.522000 14 63 0 0 0.000422831 0 0 GALNT13 114805 broad.mit.edu 37 2 154996859 154996859 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:154996859C>T ENST00000392825.3 + 4 719 c.152C>T c.(151-153)tCa>tTa p.S51L GALNT13_ENST00000409237.1_Missense_Mutation_p.S51L NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 51 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GCTGTTATTTCAAGAAACCAA 0.353000 8 18 0 0 0.000274275 0 0 F13B 2165 broad.mit.edu 37 1 197026215 197026215 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:197026215C>T ENST00000367412.1 - 7 1142 c.1099G>A c.(1099-1101)Ggc>Agc p.G367S NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 367 Sushi 6. 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 AGAAGGTAGCCGCTTTTACAT 0.408000 18 39 0 0 0.000375601 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122964821 122964821 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:122964821T>A ENST00000543897.1 - 9 2697 c.342A>T c.(340-342)caA>caT p.Q114H ZCCHC8_ENST00000336229.4_Missense_Mutation_p.Q352H|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q114H Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 352 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TTTTATTCTGTTGTATTTCTC 0.353000 4 10 0 0 0.000602214 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709328 128709328 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:128709328C>T ENST00000392665.2 - 2 955 c.811G>A c.(811-813)Gac>Aac p.D271N KCNJ1_ENST00000324036.3_Missense_Mutation_p.D271N|KCNJ1_ENST00000392666.1_Missense_Mutation_p.D271N|KCNJ1_ENST00000392664.2_Missense_Mutation_p.D290N|KCNJ1_ENST00000440599.2_Missense_Mutation_p.D271N NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 290 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) AATTCAAAGTCCTGCTGGAGA 0.478000 8 49 0 0 0.000274275 0 0 ZNF189 7743 broad.mit.edu 37 9 104171635 104171635 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:104171635C>T ENST00000374861.3 + 3 1827 c.1543C>T c.(1543-1545)Cga>Tga p.R515* ZNF189_ENST00000339664.2_Nonsense_Mutation_p.R529*|ZNF189_ENST00000259395.4_Nonsense_Mutation_p.R487* NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 529 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R529*(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) TAATCTTATTCGACATCAGGG 0.423000 20 25 0 0 0.000375601 0 0 LRP1B 53353 broad.mit.edu 37 2 141115608 141115608 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:141115608G>A ENST00000389484.3 - 74 12306 c.11335C>T c.(11335-11337)Ctc>Ttc p.L3779F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3779 LDL-receptor class A 32. 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) TCACACTGGAGATCCATAGGG 0.403000 TSP Lung(27;0.18) 20 29 0 0 0.00188189 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128578 68128578 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:68128578C>T ENST00000585558.1 + 4 843 c.455C>T c.(454-456)tCt>tTt p.S152F KCNJ16_ENST00000392670.1_Missense_Mutation_p.S117F|KCNJ16_ENST00000589377.1_Missense_Mutation_p.S117F|KCNJ16_ENST00000586462.1_Missense_Mutation_p.S156F|KCNJ16_ENST00000392671.1_Missense_Mutation_p.S117F|KCNJ16_ENST00000283936.1_Missense_Mutation_p.S117F Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 117 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) AACGTCCATTCTTTCACAGGG 0.453000 6 30 0 0 0.00116845 0 0 P2RY8 286530 broad.mit.edu 37 X 1584969 1584969 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:1584969G>A ENST00000381297.4 - 2 693 c.483C>T c.(481-483)acC>acT p.T161T NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 161 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(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) AGGTGAGATCGGTGCGCGCCA 0.692000 T CRLF2 """B-ALL, Downs associated ALL""" 5 29 0 0 0.00198382 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132905757 132905757 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:132905757C>T ENST00000409867.1 - 6 973 c.724G>A c.(724-726)Gaa>Aaa p.E242K ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like endometrium(1)|kidney(3) 4 GGTGTTCTTTCCGCCAAGGGT 0.433000 13 29 0 0 0.000422831 0 0 COL3A1 1281 broad.mit.edu 37 2 189870087 189870087 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:189870087G>A ENST00000304636.3 + 41 3113 c.2943G>A c.(2941-2943)ggG>ggA p.G981G COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 981 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.G981G(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) GTGAAAGTGGGAAACCAGGAG 0.428000 44 103 0 0 0.000781405 0 0 TNR 7143 broad.mit.edu 37 1 175365882 175365882 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:175365882C>T ENST00000367674.1 - 5 1746 c.1038G>A c.(1036-1038)tgG>tgA p.W346* TNR_ENST00000263525.2_Nonsense_Mutation_p.W346* NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 346 Fibronectin type-III 1. 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) TCGGCCCGTCCCATTCCAGCT 0.607000 28 73 0 0 0.0024448 0 0 GYPB 2994 broad.mit.edu 37 4 144918707 144918707 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:144918707G>A ENST00000283126.7 - 4 311 c.256C>T c.(256-258)Cgc>Tgc p.R86C GYPB_ENST00000513128.1_Missense_Mutation_p.R53C|GYPB_ENST00000502664.1_Missense_Mutation_p.R86C|GYPB_ENST00000510196.2_5'UTR|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000429670.2_Silent_p.F60F glycophorin B (MNS blood group) breast(1)|large_intestine(2)|skin(1) 4 all_hematologic(180;0.158) ATCAGTCGGCGAATACTGTAA 0.368000 10 46 0 0 0.000978159 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780771 106780771 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:106780771C>T ENST00000390612.2 - 0 164 CCGAAGGCTTCACCAGTCCTG 0.627000 9 41 0 0 0.000673444 0 0 KIAA1551 55196 broad.mit.edu 37 12 32137515 32137515 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:32137515C>T ENST00000312561.4 + 4 4040 c.3626C>T c.(3625-3627)cCt>cTt p.P1209L KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 CAGTGTTCTCCTTTGGATACC 0.418000 20 22 0 0 0.00047179 0 0 ZNF341 84905 broad.mit.edu 37 20 32328773 32328773 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:32328773C>T ENST00000375200.1 + 2 462 c.97C>T c.(97-99)Ccg>Tcg p.P33S ZNF341_ENST00000342427.2_Missense_Mutation_p.P33S Q9BYN7 ZN341_HUMAN zinc finger protein 341 33 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 AGTCCCTGATCCGACAGGCCA 0.547000 21 79 0 0 0.00047179 0 0 ROBO2 6092 broad.mit.edu 37 3 77671460 77671460 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:77671460G>A ENST00000461745.1 + 23 4537 c.3637G>A c.(3637-3639)Gaa>Aaa p.E1213K ROBO2_ENST00000487694.3_Missense_Mutation_p.E1229K|ROBO2_ENST00000332191.8_Missense_Mutation_p.E1213K NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1213 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TTCTGATTTGGAAACGGATGT 0.478000 16 49 0 0 0.000566183 0 0 GSTM5 2949 broad.mit.edu 37 1 110256073 110256073 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:110256073C>T ENST00000369813.1 + 2 927 c.22C>T c.(22-24)Caa>Taa p.Q8* GSTM5_ENST00000369812.5_Nonsense_Mutation_p.Q68*|GSTM5_ENST00000256593.3_Intron 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 34 39 0 0 0.000491102 0 0 CDH9 1007 broad.mit.edu 37 5 26885949 26885949 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:26885949C>T ENST00000231021.4 - 11 1828 c.1656G>A c.(1654-1656)cgG>cgA p.R552R NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 552 Cadherin 5. 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 AGCCATCTTTCCGAGTCATGA 0.343000 9 50 0 0 0.000673444 0 0 SLC26A10 65012 broad.mit.edu 37 12 58016861 58016861 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:58016861C>T ENST00000379218.2 + 7 1305 c.994C>T c.(994-996)Ccc>Tcc p.P332S SLC26A10_ENST00000320442.4_Missense_Mutation_p.P332S Q8NG04 S2610_HUMAN solute carrier family 26, member 10 332 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CTCTTGCTTTCCCAACTCGGC 0.547000 116 179 0 0 0.000781405 0 0 COL4A3 1285 broad.mit.edu 37 2 228118846 228118846 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:228118846G>A ENST00000396578.3 + 14 946 c.784G>A c.(784-786)Gga>Aga p.G262R AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 262 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) GGGGGAAAAGGGAGACAAGGG 0.428000 31 92 0 0 0.00128727 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573174 140573174 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140573174C>T ENST00000239446.4 + 1 1233 c.1049C>T c.(1048-1050)tCa>tTa p.S350L NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 350 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGATCGTATCATCATTTTCC 0.433000 28 120 0 0 0.00209593 0 0 HCAR1 27198 broad.mit.edu 37 12 123214229 123214229 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:123214229G>A ENST00000432564.1 - 1 900 c.658C>T c.(658-660)Cgg>Tgg p.R220W HCAR1_ENST00000436083.2_Missense_Mutation_p.R220W|HCAR1_ENST00000356987.2_Missense_Mutation_p.R220W NM_032554.3 NP_115943.1 Q9BXC0 HCAR1_HUMAN hydroxycarboxylic acid receptor 1 220 response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 10 ATGATGAACCGGGTCGCCTTC 0.557000 17 60 0 0 0.000720815 0 0 FAM188B 84182 broad.mit.edu 37 7 30825511 30825511 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:30825511C>T ENST00000265299.6 + 4 643 c.566C>T c.(565-567)cCt>cTt p.P189L INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 189 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CACTCGGAGCCTTCCTTGGAT 0.552000 25 58 0 0 0.001512 0 0 ITGB6 3694 broad.mit.edu 37 2 160958284 160958284 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:160958284C>T ENST00000283249.2 - 15 2567 c.2330G>A c.(2329-2331)aGg>aAg p.R777K ITGB6_ENST00000409967.2_Missense_Mutation_p.R670K|ITGB6_ENST00000428609.2_Missense_Mutation_p.R735K|ITGB6_ENST00000409872.1_Missense_Mutation_p.R777K P18564 ITB6_HUMAN integrin, beta 6 777 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TTGTTTTTCCCTGTGTTTATA 0.308000 12 49 0 0 0.00185496 0 0 DMBT1 1755 broad.mit.edu 37 10 124392396 124392396 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:124392396C>T ENST00000338354.3 + 48 6106 c.6000C>T c.(5998-6000)acC>acT p.T2000T DMBT1_ENST00000330163.4_Silent_p.T1372T|DMBT1_ENST00000368955.3_Silent_p.T1990T|DMBT1_ENST00000368909.3_Silent_p.T2000T|DMBT1_ENST00000344338.3_Silent_p.T1990T|DMBT1_ENST00000359586.6_Silent_p.T720T|DMBT1_ENST00000368956.2_Silent_p.T1372T Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2000 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) TCAACATCACCCGTCCAAACA 0.507000 4 16 0 0 0.000602214 0 0 SLC4A4 8671 broad.mit.edu 37 4 72317009 72317009 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:72317009G>A ENST00000340595.3 + 8 1377 c.1181G>A c.(1180-1182)cGa>cAa p.R394Q SLC4A4_ENST00000512686.1_Missense_Mutation_p.R394Q|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R438Q|SLC4A4_ENST00000351898.6_Missense_Mutation_p.R438Q|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Missense_Mutation_p.R438Q NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 438 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GAATTGCAGCGAACTGGACGG 0.428000 12 28 0 0 0.00185496 0 0 DACH1 1602 broad.mit.edu 37 13 72053377 72053377 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:72053377C>T ENST00000305425.4 - 8 2222 c.1800G>A c.(1798-1800)ctG>ctA p.L600L DACH1_ENST00000359684.2_Silent_p.L652L|DACH1_ENST00000354591.4_Silent_p.L398L|DACH1_ENST00000313174.7_Silent_p.L452L NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 650 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AATCCATCTTCAGCTCAGTTT 0.388000 22 56 0 0 0.00152264 0 0 SNAPC4 6621 broad.mit.edu 37 9 139276502 139276502 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:139276502G>A ENST00000298532.2 - 17 2459 c.2091C>T c.(2089-2091)ccC>ccT p.P697P NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 697 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) AGGTGGGCAGGGGTGGCTGCC 0.682000 7 8 0 0 0.000274275 0 0 RYR1 6261 broad.mit.edu 37 19 38995653 38995653 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:38995653C>T ENST00000355481.4 + 52 8373 c.8242C>T c.(8242-8244)Ccg>Tcg p.P2748S RYR1_ENST00000360985.3_Missense_Mutation_p.P2748S|RYR1_ENST00000359596.3_Missense_Mutation_p.P2748S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2748 6 X approximate repeats. 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) TGTGATCATCCCGGAGAAGCT 0.567000 21 39 0 0 0.000375601 0 0 ROBO4 54538 broad.mit.edu 37 11 124767049 124767049 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:124767049G>A ENST00000306534.3 - 2 664 c.179C>T c.(178-180)cCt>cTt p.P60L ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Intron NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 60 Ig-like C2-type 1. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GATGGTGGGAGGTGGCTGGCC 0.672000 6 8 0 0 0.00198382 0 0 YTHDC1 91746 broad.mit.edu 37 4 69202762 69202762 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:69202762G>A ENST00000344157.4 - 4 1201 c.866C>T c.(865-867)tCa>tTa p.S289L YTHDC1_ENST00000579690.1_Missense_Mutation_p.S289L|YTHDC1_ENST00000355665.3_Missense_Mutation_p.S289L NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 289 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 ATCTGTGCCTGAACCAGATCT 0.373000 10 63 0 0 0.00185496 0 0 GEM 2669 broad.mit.edu 37 8 95262708 95262708 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:95262708G>A ENST00000297596.2 - 5 985 c.721C>T c.(721-723)Ctt>Ttt p.L241F GEM_ENST00000396194.2_Missense_Mutation_p.L241F NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 241 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) TCCCGCCGAAGGCGCACCTGT 0.577000 4 38 0 0 0.000602214 0 0 NAT2 10 broad.mit.edu 37 8 18257782 18257782 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:18257782G>A ENST00000286479.3 + 2 376 c.269G>A c.(268-270)gGa>gAa p.G90E NAT2_ENST00000520116.1_Intron NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 90 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) ACAATGTTAGGAGGGTATTTT 0.473000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 14 36 0 0 0.000422831 0 0 NDN 4692 broad.mit.edu 37 15 23932257 23932257 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:23932257C>T ENST00000331837.4 - 1 193 c.108G>A c.(106-108)gcG>gcA p.A36A NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 36 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CTGCCAGGGTCGCGGACGGAG 0.701000 Prader-Willi syndrome 4 11 0 0 0.00024832 0 0 MYH7 4625 broad.mit.edu 37 14 23898167 23898167 + Silent SNP G G A rs140218676 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:23898167G>A ENST00000355349.3 - 14 1566 c.1404C>T c.(1402-1404)ttC>ttT p.F468F NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 468 Myosin head-like. 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) AACTCACATCGAAGATCTCGA 0.542000 5 29 0 0 0.00198382 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102474655 102474655 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:102474655C>T ENST00000360184.4 + 29 6122 c.5958C>T c.(5956-5958)tcC>tcT p.S1986S NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1986 AAA 1 (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 GTGAACATTCCAACCCCAACT 0.488000 9 33 0 0 0.000673444 0 0 P2RY8 286530 broad.mit.edu 37 X 1585120 1585120 + Missense_Mutation SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:1585120A>G ENST00000381297.4 - 2 542 c.332T>C c.(331-333)aTc>aCc p.I111T NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 111 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(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) CATGGTGAGGATGCTGGAATA 0.592000 T CRLF2 """B-ALL, Downs associated ALL""" 7 25 0 0 0.000157383 0 0 EXPH5 23086 broad.mit.edu 37 11 108385124 108385124 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:108385124G>A ENST00000265843.4 - 6 1220 c.1110C>T c.(1108-1110)tcC>tcT p.S370S EXPH5_ENST00000525344.1_Silent_p.S363S|EXPH5_ENST00000443411.1_Silent_p.S182S|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.S294S NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 370 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TCCATATGATGGATGATAAAG 0.468000 44 103 0 0 0.000589545 0 0 CAMKV 79012 broad.mit.edu 37 3 49898881 49898881 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:49898881C>T ENST00000466940.1 - 5 468 c.302_splice c.e5-1 p.L101_splice CAMKV_ENST00000463537.1_Silent_p.R144R|CAMKV_ENST00000296471.7_Silent_p.R144R|CAMKV_ENST00000477224.1_Silent_p.R144R|CAMKV_ENST00000488336.1_Silent_p.R144R|CAMKV_ENST00000467248.1_Silent_p.R69R Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 101 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CCTTGAGATTCCTGTGCACGA 0.607000 23 47 0 0 0.000878237 0 0 STX17 55014 broad.mit.edu 37 9 102722257 102722257 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:102722257C>T ENST00000259400.6 + 5 610 c.474C>T c.(472-474)gcC>gcT p.A158A STX17_ENST00000525640.1_Silent_p.A158A|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000534052.1_Silent_p.A158A NM_017919.2 NP_060389.2 P56962 STX17_HUMAN syntaxin 17 158 intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) AGATATATGCCTTACCTGAAA 0.368000 24 52 0 0 0.001512 0 0 NEB 4703 broad.mit.edu 37 2 152410526 152410526 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:152410526G>A ENST00000397345.3 - 126 19644 c.19442C>T c.(19441-19443)tCa>tTa p.S6481L NEB_ENST00000172853.10_Missense_Mutation_p.S4780L|NEB_ENST00000409198.1_Missense_Mutation_p.S4780L|NEB_ENST00000603639.1_Missense_Mutation_p.S6481L|NEB_ENST00000427231.2_Missense_Mutation_p.S6481L|NEB_ENST00000604864.1_Missense_Mutation_p.S6481L NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6475 Interaction with SVIL. 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) TTCATAAACTGATCTGTACAG 0.423000 27 117 0 0 0.00106085 0 0 ZNF208 7757 broad.mit.edu 37 19 22155201 22155201 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:22155201G>A ENST00000397126.4 - 4 2783 c.2635C>T c.(2635-2637)Cat>Tat p.H879Y ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron 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) ATTTTCTTATGATAACTAAGG 0.363000 9 27 0 0 0.000442599 0 0 TMEM132B 114795 broad.mit.edu 37 12 126068489 126068489 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:126068489C>T ENST00000299308.3 + 5 1379 c.1371C>T c.(1369-1371)gtC>gtT p.V457V NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 457 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) GTTCTGTGGTCGATGTGTCTG 0.483000 41 84 0 0 0.000509022 0 0 RAB3IL1 5866 broad.mit.edu 37 11 61665766 61665766 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:61665766A>T ENST00000394836.2 - 10 1290 c.1133T>A c.(1132-1134)tTc>tAc p.F378Y RAB3IL1_ENST00000301773.5_Missense_Mutation_p.F352Y NM_013401.2 NP_037533.2 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 378 protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1) 14 CTCCTGGGGGAAGAAGCCGAG 0.632000 OREG0021017 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 145 0 0 0.000781405 0 0 SPINK5 11005 broad.mit.edu 37 5 147481466 147481466 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:147481466C>T ENST00000359874.3 + 15 1498 c.1425C>T c.(1423-1425)gcC>gcT p.A475A SPINK5_ENST00000256084.7_Silent_p.A475A|SPINK5_ENST00000398454.1_Silent_p.A475A NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 475 Kazal-like 7. 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) TGTGTGAGGCCTTCTTGTGAG 0.473000 5 23 0 0 0.000602214 0 0 MCCC2 64087 broad.mit.edu 37 5 70922545 70922545 + Nonsense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:70922545A>T ENST00000340941.6 + 7 832 c.703A>T c.(703-705)Aag>Tag p.K235* MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Intron|MCCC2_ENST00000509358.2_Nonsense_Mutation_p.K235* NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) 235 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) CATTGTACGCAAGCAGGGTAC 0.473000 8 34 0 0 0.000157383 0 0 TDRD5 163589 broad.mit.edu 37 1 179620193 179620193 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:179620193C>T ENST00000444136.1 + 12 2242 c.1992C>T c.(1990-1992)atC>atT p.I664I TDRD5_ENST00000367614.1_Silent_p.I664I|TDRD5_ENST00000294848.8_Silent_p.I664I NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 664 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GAGAAAATATCTCTTCTAAGG 0.333000 7 90 0 0 0.000274275 0 0 TSTD2 158427 broad.mit.edu 37 9 100380096 100380096 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:100380096G>A ENST00000341170.4 - 4 928 c.546C>T c.(544-546)ccC>ccT p.P182P TSTD2_ENST00000375163.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000484708.1_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000375172.2_5'UTR NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 182 p.P182P(1) large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 AGATCCATTGGGGATCCTCCA 0.498000 20 30 0 0 0.00152264 0 0 MGEA5 10724 broad.mit.edu 37 10 103557835 103557835 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:103557835G>A ENST00000361464.3 - 10 2281 c.1886C>T c.(1885-1887)tCc>tTc p.S629F MGEA5_ENST00000357797.5_Missense_Mutation_p.S576F|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.S629F|MGEA5_ENST00000439817.1_Missense_Mutation_p.S576F NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 629 Histone acetyltransferase activity (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) GGCACAATTGGAGAGCCGAGT 0.403000 12 74 0 0 0.00136819 0 0 ZNF248 57209 broad.mit.edu 37 10 38121341 38121341 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:38121341G>A ENST00000395867.3 - 6 1492 c.942C>T c.(940-942)atC>atT p.I314I ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.I314I NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 CTCCCTGATGGATAATGAAAG 0.363000 19 45 0 0 0.00152264 0 0 GRM2 2912 broad.mit.edu 37 3 51749225 51749225 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:51749225C>T ENST00000395052.3 + 4 1670 c.1436C>T c.(1435-1437)aCt>aTt p.T479I GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 479 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GAAGGCTTGACTCTGGACACC 0.607000 7 35 0 0 0.00198382 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713226 70713226 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:70713226C>T ENST00000530196.1 - 0 1292 NR_003951.1 AGGTGGTCTTCATAAAATCAG 0.413000 10 65 0 0 0.000442599 0 0 NPAP1 23742 broad.mit.edu 37 15 24922957 24922957 + Missense_Mutation SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:24922957A>G ENST00000329468.2 + 1 2417 c.1943A>G c.(1942-1944)aAa>aGa p.K648R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTCAGCCCAAATTTGAGGCT 0.493000 16 89 0 0 0.00074312 0 0 TTC16 158248 broad.mit.edu 37 9 130489664 130489664 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:130489664C>T ENST00000373289.3 + 12 1764 c.1684C>T c.(1684-1686)Ccg>Tcg p.P562S TTC16_ENST00000489226.1_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 562 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 CCCTGAGATTCCGCAGGTAAA 0.587000 12 15 0 0 0.000308642 0 0 NUP210 23225 broad.mit.edu 37 3 13376957 13376957 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:13376957G>A ENST00000254508.5 - 28 3922 c.3840C>T c.(3838-3840)gtC>gtT p.V1280V NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1280 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)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CTCCTACCTGGACTTGGATCT 0.622000 26 80 0 0 0.000491102 0 0 ZMAT4 79698 broad.mit.edu 37 8 40532416 40532416 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:40532416C>T ENST00000297737.6 - 5 530 c.384G>A c.(382-384)atG>atA p.M128I ZMAT4_ENST00000315769.7_Intron NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 128 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) GAGCAGTGTCCATCCGTGGGG 0.532000 26 73 0 0 0.00127121 0 0 HLCS 3141 broad.mit.edu 37 21 38132112 38132112 + Missense_Mutation SNP C C T rs119103228 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:38132112C>T ENST00000399120.1 - 10 2941 c.1711G>A c.(1711-1713)Gat>Aat p.D571N HLCS_ENST00000336648.3_Missense_Mutation_p.D571N NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 571 D -> N (in HLCS deficiency; almost no activity). cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) TAATAAATATCGTTGGGCCAC 0.418000 23 111 0 0 0.000720815 0 0 CSF3R 1441 broad.mit.edu 37 1 36932837 36932837 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:36932837C>T ENST00000338937.5 - 13 1939 c.1940G>A c.(1939-1941)tGg>tAg p.W647* CSF3R_ENST00000373103.1_Missense_Mutation_p.M678I|CSF3R_ENST00000331941.5_Missense_Mutation_p.M678I|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.M678I|CSF3R_ENST00000418048.2_Missense_Mutation_p.M678I|CSF3R_ENST00000373104.1_Missense_Mutation_p.M678I|CSF3R_ENST00000440588.2_Missense_Mutation_p.M678I|CSF3R_ENST00000373106.1_Missense_Mutation_p.M678I Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 0 cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TCACCTCCTCCATGATTGTGG 0.602000 68 96 0 0 0.000781405 0 0 C3 718 broad.mit.edu 37 19 6713445 6713445 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:6713445G>A ENST00000245907.6 - 8 941 c.849C>T c.(847-849)tcC>tcT p.S283S NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 283 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ATTCAGGCAGGGAAATCCTCT 0.597000 18 52 0 0 0.00074312 0 0 TNXB 7148 broad.mit.edu 37 6 32041686 32041686 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:32041686C>T ENST00000375244.3 - 12 4620 c.4419G>A c.(4417-4419)ctG>ctA p.L1473L TNXB_ENST00000375247.2_Silent_p.L1473L P22105 TENX_HUMAN tenascin XB 1560 Fibronectin type-III 7. 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 GGCGTGGCTCCAGCGGGGACT 0.562000 138 227 0 0 0.000781405 0 0 CALCR 799 broad.mit.edu 37 7 93065362 93065362 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:93065362G>A ENST00000359558.2 - 14 1452 c.1153C>T c.(1153-1155)Ctg>Ttg p.L385L CALCR_ENST00000360249.4_Silent_p.L367L|CALCR_ENST00000421592.1_Silent_p.L367L|CALCR_ENST00000426151.1_Silent_p.L351L|CALCR_ENST00000394441.1_Silent_p.L351L NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 367 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) ATTCCCAGCAGGGGCACAAGG 0.498000 11 44 0 0 0.000673444 0 0 BAI2 576 broad.mit.edu 37 1 32207011 32207011 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:32207011C>T ENST00000373658.3 - 11 2098 c.1757G>A c.(1756-1758)cGc>cAc p.R586H BAI2_ENST00000440175.2_Missense_Mutation_p.R228H|BAI2_ENST00000398542.1_Missense_Mutation_p.R519H|BAI2_ENST00000398547.1_Missense_Mutation_p.R519H|BAI2_ENST00000257070.4_Missense_Mutation_p.R586H|BAI2_ENST00000398556.3_Missense_Mutation_p.R534H|BAI2_ENST00000373655.2_Missense_Mutation_p.R586H|BAI2_ENST00000527361.1_Missense_Mutation_p.R586H|BAI2_ENST00000398538.1_Missense_Mutation_p.R574H NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 586 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GGAGATGCAGCGAGCAAAGCT 0.622000 10 19 0 0 0.000673444 0 0 ATP1A4 480 broad.mit.edu 37 1 160143373 160143373 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:160143373G>A ENST00000368081.4 + 13 2328 c.1857G>A c.(1855-1857)gtG>gtA p.V619V ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 619 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAACCCAGGTGATCATGGTAA 0.517000 30 74 0 0 0.000491102 0 0 SETD2 29072 broad.mit.edu 37 3 47125334 47125334 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:47125334G>A ENST00000409792.3 - 12 5978 c.5936C>T c.(5935-5937)cCa>cTa p.P1979L SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1979 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ATCTTGGGATGGTGTTTCTTC 0.448000 """N, F, S, Mis""" clear cell renal carcinoma 31 102 0 0 0.001512 0 0 NCKAP1 10787 broad.mit.edu 37 2 183795517 183795517 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:183795517C>T ENST00000360982.2 - 28 3636 c.e28-1 NCKAP1_ENST00000361354.3_Splice_Site|NCKAP1_ENST00000478449.1_Splice_Site NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TCATTGCAACCTGATAAAAAC 0.363000 7 34 0 0 0.000157383 0 0 SSTR4 6754 broad.mit.edu 37 20 23017048 23017048 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:23017048C>T ENST00000255008.3 + 1 992 c.928C>T c.(928-930)Ctc>Ttc p.L310F RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 310 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CAACCCCATTCTCTATGGCTT 0.597000 51 154 0 0 0.000781405 0 0 CADPS 8618 broad.mit.edu 37 3 62423848 62423848 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:62423848G>A ENST00000383710.4 - 28 4057 c.3708C>T c.(3706-3708)ttC>ttT p.F1236F CADPS_ENST00000357948.3_Silent_p.F1157F|CADPS_ENST00000283269.9_Silent_p.F1197F NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1236 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) AATGGCGGACGAAAGTCACGT 0.448000 17 62 0 0 0.000375601 0 0 DYNC1LI2 1783 broad.mit.edu 37 16 66764025 66764025 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:66764025G>A ENST00000258198.2 - 8 1237 c.1031C>T c.(1030-1032)cCc>cTc p.P344L DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.P267L|DYNC1LI2_ENST00000570201.1_5'UTR|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA NM_006141.2 NP_006132.1 O43237 DC1L2_HUMAN dynein, cytoplasmic 1, light intermediate chain 2 344 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) CTTTCTCACGGGAGGTTTCAC 0.473000 17 26 0 0 0.000958276 0 0 IKBIP 121457 broad.mit.edu 37 12 99020400 99020400 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:99020400G>A ENST00000299157.4 - 3 815 c.442C>T c.(442-444)Ctt>Ttt p.L148F IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 150 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 TTCTCATTAAGGCTTTGCATC 0.358000 38 103 0 0 0.00148497 0 0 AFF4 27125 broad.mit.edu 37 5 132232718 132232718 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:132232718G>A ENST00000265343.5 - 11 1983 c.1604C>T c.(1603-1605)aCc>aTc p.T535I AFF4_ENST00000378595.3_Missense_Mutation_p.T535I NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 535 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTTTTGGATGGTTTTGGAGTC 0.493000 36 83 0 0 0.00128727 0 0 SPINK5 11005 broad.mit.edu 37 5 147499601 147499601 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:147499601G>A ENST00000359874.3 + 25 2416 c.2343G>A c.(2341-2343)atG>atA p.M781I SPINK5_ENST00000256084.7_Missense_Mutation_p.M781I|SPINK5_ENST00000398454.1_Missense_Mutation_p.M781I NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 781 Kazal-like 12. 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) GAAGCCAAATGAAAAATGGAA 0.383000 9 23 0 0 0.000442599 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156955917 156955917 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:156955917G>A ENST00000368194.3 - 2 1120 c.81C>T c.(79-81)tcC>tcT p.S27S ARHGEF11_ENST00000361409.2_Silent_p.S27S NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 27 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) GGTGGGAAGGGGACTTGCGCT 0.537000 28 101 0 0 0.00209593 0 0 ATP1A1 476 broad.mit.edu 37 1 116935540 116935540 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:116935540C>T ENST00000537345.1 + 11 1760 c.1397C>T c.(1396-1398)tCc>tTc p.S466F ATP1A1_ENST00000369496.4_Missense_Mutation_p.S435F|ATP1A1_ENST00000295598.5_Missense_Mutation_p.S466F NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 466 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) TGCTGTGGTTCCGTGAAGGAG 0.493000 30 71 0 0 0.00058488 0 0 GPATCH8 23131 broad.mit.edu 37 17 42475253 42475253 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:42475253G>A ENST00000434000.1 - 9 4240 c.3958C>T c.(3958-3960)Cat>Tat p.H1320Y GPATCH8_ENST00000591680.1_Missense_Mutation_p.H1398Y Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1398 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) GGTTGGGGATGGGGGTGAGGG 0.582000 13 23 0 0 0.00185496 0 0 STXBP5L 9515 broad.mit.edu 37 3 120976111 120976111 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:120976111G>A ENST00000273666.6 + 17 2034 c.1763G>A c.(1762-1764)aGg>aAg p.R588K STXBP5L_ENST00000492541.1_Missense_Mutation_p.R588K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R588K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R588K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R588K NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 588 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) CCTTCTTCAAGGAGTCTTTCT 0.413000 19 102 0 0 0.00074312 0 0 INF2 64423 broad.mit.edu 37 14 105174857 105174857 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:105174857C>T ENST00000392634.4 + 9 1932 c.1820C>T c.(1819-1821)tCc>tTc p.S607F INF2_ENST00000330634.7_Missense_Mutation_p.S607F NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 607 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CGACTATTCTCCTTCCCTGCA 0.682000 OREG0022959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 29 0 0 0.00136819 0 0 SLC17A4 10050 broad.mit.edu 37 6 25776915 25776915 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:25776915C>T ENST00000377905.4 + 9 1199 c.1080C>T c.(1078-1080)atC>atT p.I360I SLC17A4_ENST00000439485.2_Silent_p.I130I|SLC17A4_ENST00000397076.2_Silent_p.I130I NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 360 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCAGAAAAATCCTCAGACTCA 0.498000 12 28 0 0 0.00136819 0 0 DNAH7 56171 broad.mit.edu 37 2 196729347 196729347 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:196729347C>T ENST00000312428.6 - 41 7132 c.7032G>A c.(7030-7032)ggG>ggA p.G2344G NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2344 AAA 4 (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 GCCTTCCACTCCCTCCAACCC 0.478000 10 29 0 0 0.000442599 0 0 KIAA1109 84162 broad.mit.edu 37 4 123141522 123141522 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:123141522C>T ENST00000264501.4 + 22 2883 c.2510C>T c.(2509-2511)gCt>gTt p.A837V KIAA1109_ENST00000455637.1_Missense_Mutation_p.A837V|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A837V Q2LD37 K1109_HUMAN KIAA1109 837 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 TGCCCTACAGCTTTCTTGGAA 0.383000 8 47 0 0 0.000442599 0 0 PTH2R 5746 broad.mit.edu 37 2 209302306 209302306 + Nonsense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:209302306A>T ENST00000272847.2 + 3 436 c.223A>T c.(223-225)Aga>Tga p.R75* PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 75 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TTGTTGGCCCAGAGGAACAGT 0.328000 13 52 0 0 0.000308642 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651372 1651372 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:1651372C>T ENST00000399676.2 + 1 340 c.302C>T c.(301-303)tCc>tTc p.S101F NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 101 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGCTGTGTCTCCTGTGGGGTG 0.677000 29 127 0 0 0.00178596 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52004729 52004729 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:52004729C>T ENST00000291707.3 - 1 314 c.259G>A c.(259-261)Gag>Aag p.E87K NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 87 Ig-like V-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CGAGTCTCCTCCTGCACTGCT 0.572000 30 70 0 0 0.00058488 0 0 ASTN1 460 broad.mit.edu 37 1 177133714 177133714 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:177133714C>T ENST00000367654.2 - 1 112 c.99G>A c.(97-99)ctG>ctA p.L33L ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.L33L|ASTN1_ENST00000361833.2_Silent_p.L33L|ASTN1_ENST00000367657.3_Silent_p.L33L O14525 ASTN1_HUMAN astrotactin 1 33 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 GCTTGCACTCCAGCTCCTTGG 0.682000 16 30 0 0 0.000958276 0 0 NUDCD1 84955 broad.mit.edu 37 8 110305711 110305711 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:110305711G>A ENST00000239690.4 - 4 876 c.502C>T c.(502-504)Cac>Tac p.H168Y NUDCD1_ENST00000427660.2_Missense_Mutation_p.H139Y NM_032869.3 NP_116258.2 Q96RS6 NUDC1_HUMAN NudC domain containing 1 168 breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1) 25 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) GAGATACTGTGAATTATAATA 0.323000 7 65 0 0 0.000157383 0 0 ZNF208 7757 broad.mit.edu 37 19 22154722 22154722 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:22154722G>A ENST00000397126.4 - 4 3262 c.3114C>T c.(3112-3114)ttC>ttT p.F1038F ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron 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) AGGGCCAGCTGAAGGCTTTGT 0.443000 24 54 0 0 0.000878237 0 0 LYPD2 137797 broad.mit.edu 37 8 143832508 143832508 + Missense_Mutation SNP C C T rs145933616 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:143832508C>T ENST00000359228.3 - 2 221 c.139G>A c.(139-141)Gaa>Aaa p.E47K NM_205545.1 NP_991108.1 Q6UXB3 LYPD2_HUMAN LY6/PLAUR domain containing 2 47 UPAR/Ly6. anchored to membrane|plasma membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2) 7 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CACATGGTTTCGTTGGTGGTG 0.652000 29 108 0 0 0.000953801 0 0 UGGT1 56886 broad.mit.edu 37 2 128947294 128947294 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:128947294C>T ENST00000375990.3 + 41 4977 c.4574C>T c.(4573-4575)cCt>cTt p.P1525L UGGT1_ENST00000465836.1_3'UTR|UGGT1_ENST00000259253.6_Missense_Mutation_p.P1549L Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 1549 Glucosyltransferase (By similarity). '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 TCCTTAGGTCCTCAGAAACGT 0.358000 9 27 0 0 0.000978159 0 0 KRT39 390792 broad.mit.edu 37 17 39114917 39114917 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:39114917C>T ENST00000355612.2 - 7 1447 c.1412G>A c.(1411-1413)gGg>gAg p.G471E AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 471 Tail. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) AATGACCTTCCCATCCTTAAT 0.478000 27 52 0 0 0.000720815 0 0 PSD4 23550 broad.mit.edu 37 2 113943511 113943511 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:113943511C>T ENST00000245796.6 + 5 1502 c.1307C>T c.(1306-1308)cCc>cTc p.P436L PSD4_ENST00000441564.2_Intron NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 436 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 GCCCCCTGCCCCTGGAGGAGC 0.647000 4 15 0 0 0.000602214 0 0 TRBV27 28560 broad.mit.edu 37 7 142423396 142423396 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:142423396C>T ENST00000506718.1 + 0 404 TRBV27_ENST00000390399.3_RNA CTTTACAGGCCCCCTGGAAGC 0.483000 5 38 0 0 0.000157383 0 0 MIR379 494328 broad.mit.edu 37 14 101488435 101488435 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:101488435G>A ENST00000362218.3 + 0 70 NR_029871.1 TAGGCGTTATGATTTCTGACC 0.522000 23 46 0 0 0.00047179 0 0 CNDP2 55748 broad.mit.edu 37 18 72183516 72183516 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:72183516C>T ENST00000324262.4 + 9 1273 c.957C>T c.(955-957)atC>atT p.I319I CNDP2_ENST00000579847.1_Silent_p.I319I|CNDP2_ENST00000324301.8_Silent_p.I235I NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) 319 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) TCCATGGCATCGAAGGCGCCT 0.572000 34 104 0 0 0.00170553 0 0 SCN5A 6331 broad.mit.edu 37 3 38655273 38655273 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:38655273G>A ENST00000443581.1 - 6 857 c.664C>T c.(664-666)Cga>Tga p.R222* SCN5A_ENST00000423572.2_Nonsense_Mutation_p.R222*|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.R222*|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.R222*|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000414099.2_Intron NM_000335.4|NM_198056.2 NP_000326.2|NP_932173.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 222 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) CGGAGGACTCGGAAGGTGCGT 0.483000 4 19 0 0 0.00116845 0 0 SI 6476 broad.mit.edu 37 3 164725726 164725726 + Missense_Mutation SNP C C T rs145734588 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:164725726C>T ENST00000264382.3 - 36 4302 c.4240G>A c.(4240-4242)Gaa>Aaa p.E1414K NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1414 Sucrase. 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 p.E1414K(1) 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) TAATTTAGTTCGTCATTTCTG 0.264000 HNSCC(35;0.089) 24 154 0 0 0.00178596 0 0 USP11 8237 broad.mit.edu 37 X 47106753 47106753 + Missense_Mutation SNP C C T rs140077263 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:47106753C>T ENST00000377107.2 + 19 2825 c.2471C>T c.(2470-2472)cCg>cTg p.P824L USP11_ENST00000218348.3_Missense_Mutation_p.P867L P51784 UBP11_HUMAN ubiquitin specific peptidase 11 867 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.P867L(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 GAGTCGAATCCGGAGCTGTAC 0.567000 17 23 0 0 0.000958276 0 0 B4GALT2 8704 broad.mit.edu 37 1 44451195 44451195 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:44451195C>T ENST00000356836.6 + 6 1660 c.870C>T c.(868-870)tcC>tcT p.S290S B4GALT2_ENST00000434555.2_Silent_p.S224S|B4GALT2_ENST00000309519.7_Silent_p.S319S|B4GALT2_ENST00000372324.1_Silent_p.S290S|B4GALT2_ENST00000481924.1_3'UTR NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 290 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) TCAGGATCTCCCTGACTGGGA 0.607000 29 88 0 0 0.00058488 0 0 SLC35F4 341880 broad.mit.edu 37 14 58030893 58030893 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:58030893C>T ENST00000556826.1 - 8 1654 c.1418G>A c.(1417-1419)aGa>aAa p.R473K SLC35F4_ENST00000339762.6_Missense_Mutation_p.R509K|SLC35F4_ENST00000554729.1_Missense_Mutation_p.R350K NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GGCTCTGCCTCTGCCCCGCAG 0.453000 4 18 0 0 0.000602214 0 0 PTPN14 5784 broad.mit.edu 37 1 214537942 214537942 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:214537942G>A ENST00000366956.5 - 18 3542 c.3348C>T c.(3346-3348)ccC>ccT p.P1116P PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 1116 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGACCACGATGGGCGGGTGCC 0.542000 16 36 0 0 0.000958276 0 0 AGTR2 186 broad.mit.edu 37 X 115303666 115303666 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:115303666G>A ENST00000371906.4 + 3 323 c.133G>A c.(133-135)Gat>Aat p.D45N NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 45 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TAAGCATTTAGATGCAATTCC 0.373000 8 13 0 0 0.000673444 0 0 XIST 7503 broad.mit.edu 37 X 73063611 73063611 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:73063611C>T ENST00000429829.1 - 0 8977 NR_001564.2 TAGGTAGGATCCTTATCTAGT 0.403000 5 22 0 0 0.000602214 0 0 NETO1 81832 broad.mit.edu 37 18 70526092 70526092 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:70526092C>T ENST00000327305.6 - 4 1095 c.438G>A c.(436-438)atG>atA p.M146I NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.M145I|NETO1_ENST00000299430.2_Missense_Mutation_p.M145I|NETO1_ENST00000583169.1_Missense_Mutation_p.M146I NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 146 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) CTGAAAATCCCATAGATTCCA 0.323000 13 41 0 0 0.000219431 0 0 APOL5 80831 broad.mit.edu 37 22 36122288 36122288 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:36122288A>T ENST00000249044.2 + 3 173 c.173A>T c.(172-174)aAa>aTa p.K58I NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 58 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 CAGAGTTGGAAAATTAACAAT 0.458000 30 85 0 0 0.0024448 0 0 DCTN1 1639 broad.mit.edu 37 2 74598249 74598249 + Silent SNP G G A rs13017086 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:74598249G>A ENST00000361874.3 - 9 1017 c.700C>T c.(700-702)Ctg>Ttg p.L234L DCTN1_ENST00000409438.1_Silent_p.L100L|DCTN1_ENST00000394003.3_Silent_p.L227L|DCTN1_ENST00000409868.1_Silent_p.L217L|DCTN1_ENST00000409240.1_Silent_p.L197L|DCTN1_ENST00000409567.3_Silent_p.L214L|DCTN1_ENST00000407639.2_Silent_p.L100L NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 234 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding p.L234M(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 TTCAGTCTCAGGGTCTCTAGT 0.547000 74 322 0 0 0.000781405 0 0 PPM1L 151742 broad.mit.edu 37 3 160783332 160783332 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:160783332G>A ENST00000498165.1 + 3 817 c.716G>A c.(715-717)aGa>aAa p.R239K PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.R60K|PPM1L_ENST00000295839.9_Missense_Mutation_p.R112K NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 239 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity p.R239T(1)|p.R60T(1) breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TTGAAGGAAAGAAAGAGGATA 0.507000 5 28 0 0 0.000602214 0 0 ACSL1 2180 broad.mit.edu 37 4 185724548 185724548 + Missense_Mutation SNP T T G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:185724548T>G ENST00000515030.1 - 2 446 c.121A>C c.(121-123)Acc>Ccc p.T41P ACSL1_ENST00000454703.2_Intron|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000504342.1_Missense_Mutation_p.T41P|ACSL1_ENST00000504900.1_Missense_Mutation_p.T41P|ACSL1_ENST00000281455.2_Missense_Mutation_p.T41P|ACSL1_ENST00000507295.1_Missense_Mutation_p.T41P|ACSL1_ENST00000513317.1_Missense_Mutation_p.T41P P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 41 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TACCAGAAGGTGGTGAGTGCT 0.592000 5 19 0 0 0.00116845 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495667 6495667 + Nonsense_Mutation SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:6495667G>C ENST00000264071.2 - 4 1214 c.843C>G c.(841-843)taC>taG p.Y281* TUBB4A_ENST00000540257.1_Nonsense_Mutation_p.Y281* P04350 TBB4_HUMAN tubulin, beta 4A class IVa 281 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity TCAGGGCCCGGTACTGCTGGC 0.677000 21 84 0 0 0.00188189 0 0 NLRP14 338323 broad.mit.edu 37 11 7070992 7070992 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:7070992G>A ENST00000299481.4 + 6 2560 c.2214G>A c.(2212-2214)ggG>ggA p.G738G NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 738 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) ACCTAAAAGGGAGTGATATAG 0.383000 46 92 0 0 0.000680045 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21798546 21798546 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:21798546G>A ENST00000206660.6 + 19 3238 c.3238_splice c.e19+1 p.D1080_splice RPGRIP1_ENST00000556336.1_Splice_Site_p.D737_splice|RPGRIP1_ENST00000382933.4_Splice_Site_p.D406_splice|RPGRIP1_ENST00000557771.1_Splice_Site_p.D1042_splice|RPGRIP1_ENST00000400017.2_Splice_Site_p.D1080_splice|RPGRIP1_ENST00000307974.4_Splice_Site_p.D439_splice Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 1080 Interaction with RPGR. 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) TCCTGTAAATGGTATTGTCTT 0.433000 7 26 0 0 0.00198382 0 0 PPIH 10465 broad.mit.edu 37 1 43124996 43124996 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:43124996G>A ENST00000372549.1 + 2 287 c.151G>A c.(151-153)Gaa>Aaa p.E51K PPIH_ENST00000455203.2_5'UTR|PPIH_ENST00000372550.1_5'UTR|PPIH_ENST00000304979.3_Intron O43447 PPIH_HUMAN peptidylprolyl isomerase H (cyclophilin H) 0 PPIase cyclophilin-type. protein complex assembly|protein folding cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding endometrium(1)|large_intestine(1)|lung(2) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) L-Proline(DB00172) GGGTATCGGTGAACCACCTGC 0.507000 25 53 0 0 0.00047179 0 0 CFTR 1080 broad.mit.edu 37 7 117307070 117307070 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:117307070C>T ENST00000003084.6 + 27 4483 c.4351C>T c.(4351-4353)Ccc>Tcc p.P1451S CFTR_ENST00000454343.1_Missense_Mutation_p.P1390S NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1451 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) GAAGCTCTTTCCCCACCGGAA 0.532000 Cystic Fibrosis 6 14 0 0 0.00198382 0 0 CDH23 64072 broad.mit.edu 37 10 73553238 73553238 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:73553238G>A ENST00000224721.6 + 47 6573 c.6568G>A c.(6568-6570)Gag>Aag p.E2190K NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2185 Cadherin 21. EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902). 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 GAGCGTGCTGGAGTCGGCTGA 0.557000 12 52 0 0 0.000219431 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175252 207175252 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:207175252G>A ENST00000374423.3 + 5 6386 c.6000G>A c.(5998-6000)ttG>ttA p.L2000L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2000 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CTAAAGTTTTGAAGCCTATGC 0.373000 12 27 0 0 0.00136819 0 0 SMCHD1 23347 broad.mit.edu 37 18 2763772 2763772 + Silent SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:2763772T>A ENST00000320876.6 + 37 5042 c.4704T>A c.(4702-4704)ggT>ggA p.G1568G SMCHD1_ENST00000261598.8_Silent_p.G1568G|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1568 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TCGTGAATGGTTCGGCTGAAA 0.333000 35 70 0 0 0.00222228 0 0 KCNT2 343450 broad.mit.edu 37 1 196309636 196309636 + Missense_Mutation SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:196309636G>C ENST00000367433.5 - 16 1719 c.1618C>G c.(1618-1620)Cct>Gct p.P540A KCNT2_ENST00000367431.4_Missense_Mutation_p.P490A|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.P151A|KCNT2_ENST00000294725.8_Missense_Mutation_p.P540A Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 540 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 ATGTATCGAGGACCTGGATTC 0.318000 4 55 0 0 0.00116845 0 0 DNAH7 56171 broad.mit.edu 37 2 196729348 196729348 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:196729348C>T ENST00000312428.6 - 41 7131 c.7031G>A c.(7030-7032)gGg>gAg p.G2344E NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2344 AAA 4 (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 CCTTCCACTCCCTCCAACCCC 0.473000 10 30 0 0 0.000442599 0 0 DOCK9 23348 broad.mit.edu 37 13 99537329 99537329 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:99537329G>A ENST00000376460.1 - 21 2358 c.2278C>T c.(2278-2280)Ccc>Tcc p.P760S DOCK9_ENST00000448493.2_Missense_Mutation_p.P772S|DOCK9_ENST00000442173.1_Missense_Mutation_p.P760S|DOCK9_ENST00000339416.2_Missense_Mutation_p.P761S NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 761 DHR-1. 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) TTCAGGAGGGGAAGCCAGGAG 0.502000 4 13 0 0 0.00116845 0 0 CAPN6 827 broad.mit.edu 37 X 110489950 110489950 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:110489950C>T ENST00000324068.1 - 13 1948 c.1781G>A c.(1780-1782)gGg>gAg p.G594E CAPN6_ENST00000541758.1_Missense_Mutation_p.G339E NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 594 C2. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 AGTAACCTGCCCCAAGAACTG 0.527000 10 12 0 0 0.000673444 0 0 CCDC124 115098 broad.mit.edu 37 19 18054467 18054467 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:18054467C>T ENST00000597436.1 + 5 722 c.615C>T c.(613-615)ctC>ctT p.L205L CCDC124_ENST00000445755.2_Silent_p.L205L NM_138442.3 NP_612451.1 Q96CT7 CC124_HUMAN coiled-coil domain containing 124 205 DNA binding central_nervous_system(1)|kidney(2) 3 AGGAGTGGCTCCGCTCTCCTG 0.612000 18 40 0 0 0.00074312 0 0 KCNQ3 3786 broad.mit.edu 37 8 133153538 133153538 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:133153538G>A ENST00000388996.4 - 10 1723 c.1303C>T c.(1303-1305)Cct>Tct p.P435S KCNQ3_ENST00000521134.1_Missense_Mutation_p.P315S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P435S NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 435 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CTACCACGAGGATTAGAAAGG 0.413000 9 43 0 0 0.00136819 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105360854 105360854 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:105360854G>A ENST00000297581.2 + 2 123 c.74G>A c.(73-75)gGa>gAa p.G25E DCSTAMP_ENST00000517991.1_Missense_Mutation_p.G25E|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 25 osteoclast differentiation cell surface|integral to membrane|plasma membrane AGAAGCCCCGGATGGATGGAC 0.498000 9 43 0 0 0.000274275 0 0 MGAM 8972 broad.mit.edu 37 7 141802445 141802445 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:141802445G>A ENST00000475668.2 + 69 8033 c.7979G>A c.(7978-7980)gGa>gAa p.G2660E MGAM_ENST00000549489.2_Missense_Mutation_p.G1764E O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1764 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) TATGGGAAAGGACTCTATTAC 0.413000 5 21 0 0 0.00198382 0 0 PLP2 5355 broad.mit.edu 37 X 49029740 49029740 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:49029740C>T ENST00000376327.5 + 3 330 c.255C>T c.(253-255)ttC>ttT p.F85F PLP2_ENST00000376322.3_Silent_p.F85F NM_002668.2 NP_002659.1 Q04941 PLP2_HUMAN proteolipid protein 2 (colonic epithelium-enriched) 85 MARVEL. chemotaxis|cytokine-mediated signaling pathway endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane chemokine binding|ion transmembrane transporter activity endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3) 13 CACAGGATTTCTTCCGAACCC 0.532000 9 18 0 0 0.00185496 0 0 SLIT3 6586 broad.mit.edu 37 5 168201350 168201350 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:168201350C>T ENST00000519560.1 - 13 1604 c.1185G>A c.(1183-1185)cgG>cgA p.R395R SLIT3_ENST00000332966.8_Silent_p.R395R|SLIT3_ENST00000404867.3_Silent_p.R395R NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 395 R -> Q (in dbSNP:rs2288792). apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.R395R(1)|p.R395L(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACGTGTTCACCCGCAGGCAGT 0.537000 43 193 0 0 0.000781405 0 0 GORASP2 26003 broad.mit.edu 37 2 171822318 171822318 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:171822318C>T ENST00000234160.4 + 10 1852 c.1037C>T c.(1036-1038)tCc>tTc p.S346F GORASP2_ENST00000452526.2_Missense_Mutation_p.S358F|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 346 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 CCTCTTCCTTCCATGCCTCCC 0.522000 13 52 0 0 0.00229938 0 0 TRHDE 29953 broad.mit.edu 37 12 73046870 73046870 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:73046870G>A ENST00000261180.4 + 17 2879 c.2783G>A c.(2782-2784)cGa>cAa p.R928Q NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 928 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 CATGTAGCTCGAAATCCACAT 0.353000 17 25 0 0 0.000566183 0 0 NEK10 152110 broad.mit.edu 37 3 27332781 27332781 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:27332781C>T ENST00000429845.2 - 19 1939 c.1577G>A c.(1576-1578)gGa>gAa p.G526E NEK10_ENST00000341435.5_Missense_Mutation_p.G526E|NEK10_ENST00000357467.2_5'UTR Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 526 Protein kinase. 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 AGCTCCACTTCCAAGATGATC 0.403000 22 64 0 0 0.00047179 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74531559 74531559 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:74531559G>A ENST00000553458.1 - 11 1567 c.1469C>T c.(1468-1470)tCc>tTc p.S490F AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000394009.3_3'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.S477F|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.S207F|CCDC176_ENST00000553773.1_Intron NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 490 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) TCCCCTGAAGGAGGATCGAGA 0.403000 5 30 0 0 0.000602214 0 0 CP 1356 broad.mit.edu 37 3 148916180 148916180 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:148916180C>T ENST00000264613.6 - 9 1949 c.1687G>A c.(1687-1689)Gga>Aga p.G563R CP_ENST00000462336.1_5'UTR NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 563 F5/8 type A 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity p.G563*(1) 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) TGTAAACTTCCTTTCTTGCAT 0.358000 23 40 0 0 0.000586117 0 0 SLC13A5 284111 broad.mit.edu 37 17 6609960 6609960 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:6609960C>T ENST00000433363.2 - 3 602 c.e3+1 SLC13A5_ENST00000381074.4_Splice_Site|SLC13A5_ENST00000293800.6_Splice_Site|SLC13A5_ENST00000573648.1_Splice_Site NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 GGCGTAATTACCGTGCAGGCT 0.657000 4 13 0 0 0.00024832 0 0 KCNV1 27012 broad.mit.edu 37 8 110980428 110980428 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:110980428G>A ENST00000524391.1 - 4 2424 c.1392C>T c.(1390-1392)atC>atT p.I464I KCNV1_ENST00000297404.1_Silent_p.I464I Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 464 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) AGTTAACACTGATATATGAGT 0.463000 11 38 0 0 0.000978159 0 0 CLIP2 7461 broad.mit.edu 37 7 73803525 73803525 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:73803525C>T ENST00000223398.6 + 13 2983 c.2656C>T c.(2656-2658)Cgg>Tgg p.R886W CLIP2_ENST00000395060.1_Missense_Mutation_p.R886W|CLIP2_ENST00000361545.5_Missense_Mutation_p.R851W NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 886 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 GACCGTGTCCCGGAAGACCCA 0.672000 8 28 0 0 0.000157383 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891059 2891059 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:2891059G>A ENST00000254528.3 + 4 1093 c.934G>A c.(934-936)Gaa>Aaa p.E312K NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 312 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding p.E312K(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) GACAACCAACGAACTCTACCA 0.547000 18 125 0 0 0.00188189 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761569 92761569 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:92761569G>A ENST00000318238.4 - 5 4932 c.3716C>T c.(3715-3717)cCt>cTt p.P1239L SAMD9L_ENST00000411955.1_Missense_Mutation_p.P1239L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P1239L NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1239 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) GGGATCAGGAGGAATGGTCCA 0.348000 8 37 0 0 0.000442599 0 0 DNAH7 56171 broad.mit.edu 37 2 196651884 196651884 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:196651884C>T ENST00000312428.6 - 58 10828 c.10728G>A c.(10726-10728)aaG>aaA p.K3576K DNAH7_ENST00000409063.1_Silent_p.K59K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3576 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.K3576N(1) 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 AAAGCAATTTCTTGAATTCCT 0.338000 18 79 0 0 0.00229938 0 0 VPS13C 54832 broad.mit.edu 37 15 62233965 62233965 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:62233965G>A ENST00000261517.5 - 46 5523 c.5450C>T c.(5449-5451)tCa>tTa p.S1817L VPS13C_ENST00000249837.3_Missense_Mutation_p.S1774L|VPS13C_ENST00000395898.3_Missense_Mutation_p.S1774L|VPS13C_ENST00000395896.4_Missense_Mutation_p.S1817L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1817 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 TTTATACCTTGACAGCTTCAA 0.313000 8 54 0 0 0.000274275 0 0 CDH17 1015 broad.mit.edu 37 8 95158316 95158316 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:95158316C>T ENST00000027335.3 - 15 2131 c.2007G>A c.(2005-2007)aaG>aaA p.K669K CDH17_ENST00000441892.2_Silent_p.K455K|CDH17_ENST00000450165.2_Silent_p.K669K NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 669 Cadherin 7. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CCGTGTAGTCCTTGGCTAGCC 0.498000 5 13 0 0 0.00198382 0 0 BCAN 63827 broad.mit.edu 37 1 156622570 156622570 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:156622570C>T ENST00000329117.4 + 8 2164 c.1828C>T c.(1828-1830)Ccc>Tcc p.P610S RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.P610S NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 610 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCTGGAGGCCCCCTCTGAAGA 0.662000 9 27 0 0 0.000274275 0 0 MCTP1 79772 broad.mit.edu 37 5 94275843 94275843 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:94275843C>T ENST00000515393.1 - 5 1117 c.1118G>A c.(1117-1119)gGa>gAa p.G373E MCTP1_ENST00000312216.8_Missense_Mutation_p.G152E|MCTP1_ENST00000429576.2_Missense_Mutation_p.G152E|MCTP1_ENST00000505208.1_Missense_Mutation_p.G152E NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 373 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) CAAAATGATTCCAAGATCATG 0.413000 6 38 0 0 0.000157383 0 0 SCN5A 6331 broad.mit.edu 37 3 38627476 38627476 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:38627476G>A ENST00000413689.1 - 16 2686 c.2493C>T c.(2491-2493)atC>atT p.I831I SCN5A_ENST00000423572.2_Silent_p.I831I|SCN5A_ENST00000451551.2_Silent_p.I831I|SCN5A_ENST00000449557.2_Silent_p.I831I|SCN5A_ENST00000450102.2_Silent_p.I831I|SCN5A_ENST00000443581.1_Silent_p.I831I|SCN5A_ENST00000333535.4_Silent_p.I831I|SCN5A_ENST00000425664.1_Silent_p.I831I|SCN5A_ENST00000455624.2_Silent_p.I831I|SCN5A_ENST00000414099.2_Silent_p.I831I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 831 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) AGTTCCCGATGATCTTGATGA 0.567000 11 35 0 0 0.000219431 0 0 NFATC4 4776 broad.mit.edu 37 14 24839582 24839582 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:24839582C>T ENST00000413692.2 + 3 1311 c.1167C>T c.(1165-1167)atC>atT p.I389I NFATC4_ENST00000553469.1_Silent_p.I358I|NFATC4_ENST00000553879.1_Silent_p.I256I|NFATC4_ENST00000553708.1_Silent_p.I326I|NFATC4_ENST00000555453.1_Silent_p.I314I|NFATC4_ENST00000556169.1_Silent_p.I314I|NFATC4_ENST00000554591.1_Silent_p.I389I|NFATC4_ENST00000556279.1_Silent_p.I358I|NFATC4_ENST00000554966.1_Silent_p.I339I|NFATC4_ENST00000555590.1_Silent_p.I339I|NFATC4_ENST00000424781.2_Silent_p.I339I|NFATC4_ENST00000554050.1_Silent_p.I326I|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554661.1_Silent_p.I256I|NFATC4_ENST00000554344.1_Silent_p.I256I|NFATC4_ENST00000539237.2_Silent_p.I358I|NFATC4_ENST00000557451.1_Silent_p.I256I|NFATC4_ENST00000250373.4_Silent_p.I326I|NFATC4_ENST00000422617.3_Silent_p.I314I NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 326 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) CTGAGAGCATCCCTCAGAAGA 0.662000 7 49 0 0 0.000157383 0 0 TMEM130 222865 broad.mit.edu 37 7 98445712 98445712 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:98445712G>A ENST00000450876.1 - 8 2302 c.987C>T c.(985-987)ccC>ccT p.P329P TMEM130_ENST00000416379.2_Silent_p.P425P|TMEM130_ENST00000339375.4_Silent_p.P413P|TMEM130_ENST00000546258.1_Silent_p.P394P|TMEM130_ENST00000345589.4_Silent_p.P311P Q8N3G9 TM130_HUMAN transmembrane protein 130 425 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ACTTATAGAGGGGCGGGAGCA 0.557000 8 58 0 0 0.000673444 0 0 SMPDL3B 27293 broad.mit.edu 37 1 28271942 28271942 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:28271942C>T ENST00000373894.3 + 2 452 c.261C>T c.(259-261)ttC>ttT p.F87F RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000466793.1_3'UTR|SMPDL3B_ENST00000549094.1_Silent_p.F87F|SMPDL3B_ENST00000373888.4_Silent_p.F87F NM_014474.2 NP_055289.2 Q92485 ASM3B_HUMAN sphingomyelin phosphodiesterase, acid-like 3B 87 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) AGCCAGACTTCATTCTCTGGA 0.552000 10 33 0 0 0.000978159 0 0 PARD3 56288 broad.mit.edu 37 10 34620168 34620168 + Missense_Mutation SNP G G A rs139203609 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:34620168G>A ENST00000374789.3 - 19 3044 c.2719C>T c.(2719-2721)Cct>Tct p.P907S PARD3_ENST00000374776.1_Missense_Mutation_p.P861S|PARD3_ENST00000346874.4_Missense_Mutation_p.P907S|PARD3_ENST00000340077.5_Missense_Mutation_p.P904S|PARD3_ENST00000374773.1_Missense_Mutation_p.P874S|PARD3_ENST00000374788.3_Missense_Mutation_p.P904S|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374794.3_Missense_Mutation_p.P832S|PARD3_ENST00000544292.1_Missense_Mutation_p.P620S|PARD3_ENST00000545693.1_Missense_Mutation_p.P891S|PARD3_ENST00000350537.4_Missense_Mutation_p.P861S|PARD3_ENST00000374790.3_Missense_Mutation_p.P847S|PARD3_ENST00000545260.1_Missense_Mutation_p.P817S NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 907 Interacts with PRKCZ (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding p.P907F(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CGATGGAAAGGAATATCCCCA 0.532000 6 43 0 0 0.00116845 0 0 CBL 867 broad.mit.edu 37 11 119148881 119148881 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:119148881A>T ENST00000264033.4 + 8 1477 c.1101A>T c.(1099-1101)caA>caT p.Q367H NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 367 Asp/Glu-rich (acidic).|Linker. Q -> P (in NSLL; causes impaired CBL- mediated degradation of cell-surface receptors in a dominant-negative fashion). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_Q409del(13)|p.?(3)|p.Q367_Y368insQ(1)|p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CAAAGGAACAATATGAATTAT 0.299000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 18 24 0 0 0.000958276 0 0 WRN 7486 broad.mit.edu 37 8 30999245 30999245 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:30999245C>T ENST00000298139.5 + 26 3436 c.3187C>T c.(3187-3189)Ctt>Ttt p.L1063F NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1063 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GAGCCTCATCCTTCAAGCTAA 0.333000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 24 54 0 0 0.001512 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985306 140985306 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:140985306G>A ENST00000544766.1 + 5 1395 c.868G>A c.(868-870)Gat>Aat p.D290N MAGEC3_ENST00000536088.1_Missense_Mutation_p.D290N|MAGEC3_ENST00000443323.2_Missense_Mutation_p.D210N|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.D290N NM_177456.2 NP_803251.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 0 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) TATATATGGGGATCCCAGAAA 0.512000 9 27 0 0 0.000442599 0 0 MYH7 4625 broad.mit.edu 37 14 23898500 23898500 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:23898500G>A ENST00000355349.3 - 13 1357 c.1195C>T c.(1195-1197)Ctg>Ttg p.L399L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 399 Myosin head-like. 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) GGGTGGCACAGCCCCTTGAGC 0.547000 13 60 0 0 0.000308642 0 0 PFKFB2 5208 broad.mit.edu 37 1 207242814 207242814 + Missense_Mutation SNP C C G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:207242814C>G ENST00000367080.3 + 11 1157 c.1033C>G c.(1033-1035)Cca>Gca p.P345A PFKFB2_ENST00000367079.2_Missense_Mutation_p.P345A|PFKFB2_ENST00000411990.2_Missense_Mutation_p.P247A|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000545806.1_Missense_Mutation_p.P312A|PFKFB2_ENST00000541914.1_Missense_Mutation_p.P159A NM_006212.2 NP_006203.2 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 345 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) GAAACGGTACCCAGAAGAGTT 0.488000 7 74 0 0 0.00136819 0 0 MUC16 94025 broad.mit.edu 37 19 9049941 9049941 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9049941C>T ENST00000397910.4 - 5 31893 c.31690G>A c.(31690-31692)Gaa>Aaa p.E10564K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10566 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 GTCTCTGATTCTCTATTGAAA 0.493000 26 60 0 0 0.000586117 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102474652 102474652 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:102474652T>A ENST00000360184.4 + 29 6119 c.5955T>A c.(5953-5955)caT>caA p.H1985Q NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1985 AAA 1 (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 TGCGTGAACATTCCAACCCCA 0.498000 9 35 0 0 0.000978159 0 0 MID2 11043 broad.mit.edu 37 X 107084487 107084487 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:107084487C>T ENST00000262843.6 + 2 1140 c.592C>T c.(592-594)Cat>Tat p.H198Y MID2_ENST00000443968.2_Missense_Mutation_p.H198Y NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 198 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 CTGCCTGGACCATGAGAATGA 0.537000 13 18 0 0 0.000219431 0 0 SLC13A5 284111 broad.mit.edu 37 17 6597468 6597468 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:6597468G>A ENST00000433363.2 - 8 1337 c.1104C>T c.(1102-1104)ttC>ttT p.F368F SLC13A5_ENST00000381074.4_Silent_p.F325F|SLC13A5_ENST00000293800.6_Silent_p.F351F|SLC13A5_ENST00000573648.1_Silent_p.F368F NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 368 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 AAGGCACAATGAATAGCAGGG 0.527000 16 33 0 0 0.00121646 0 0 STAB1 23166 broad.mit.edu 37 3 52538484 52538484 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:52538484C>T ENST00000321725.6 + 11 1234 c.1158C>T c.(1156-1158)ggC>ggT p.G386G NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 386 FAS1 1. 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) CAGACCAGGGCTGCCGGGAAA 0.617000 23 70 0 0 0.001512 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373394 86373394 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:86373394C>T ENST00000604798.1 - 8 2314 c.1110G>A c.(1108-1110)ggG>ggA p.G370G MGAT4C_ENST00000552808.2_Silent_p.G370G|MGAT4C_ENST00000393205.2_Silent_p.G399G|MGAT4C_ENST00000549405.2_Silent_p.G370G|MGAT4C_ENST00000548651.1_Silent_p.G370G|MGAT4C_ENST00000332156.1_Silent_p.G370G Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 370 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 AAGGTGGTTTCCCCCAAAAGT 0.353000 9 7 0 0 0.000274275 0 0 OGDHL 55753 broad.mit.edu 37 10 50959894 50959894 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:50959894G>A ENST00000374103.4 - 6 813 c.728C>T c.(727-729)gCc>gTc p.A243V OGDHL_ENST00000419399.1_Missense_Mutation_p.A186V|OGDHL_ENST00000432695.1_Missense_Mutation_p.A34V NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 243 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 CACTAGCCGGGCCAGCAGGGT 0.607000 21 62 0 0 0.000586117 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427441 25427441 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:25427441C>T ENST00000424208.1 + 0 238 NR_003305.1 AGATCGGGCCCTTCCTGGTGC 0.627000 4 24 0 0 0.00024832 0 0 PTPRE 5791 broad.mit.edu 37 10 129854412 129854412 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:129854412G>A ENST00000254667.3 + 7 725 c.446G>A c.(445-447)gGa>gAa p.G149E PTPRE_ENST00000306042.5_Missense_Mutation_p.G91E|PTPRE_ENST00000471218.1_Silent_p.R147R|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000419012.2_Missense_Mutation_p.G149E NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 149 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CACATACAAGGAACTTTTGAA 0.368000 34 181 0 0 0.000509022 0 0 ASPM 259266 broad.mit.edu 37 1 197097757 197097757 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:197097757G>A ENST00000367409.4 - 10 3055 c.2799C>T c.(2797-2799)ttC>ttT p.F933F ASPM_ENST00000367408.1_Silent_p.F183F|ASPM_ENST00000294732.7_Silent_p.F933F NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 933 CH 1. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CACCACTTAGGAAATCTCGTG 0.333000 5 41 0 0 0.000602214 0 0 CACNA1A 773 broad.mit.edu 37 19 13414658 13414658 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:13414658C>T ENST00000360228.5 - 16 2026 c.2027G>A c.(2026-2028)gGg>gAg p.G676E CACNA1A_ENST00000573710.2_Missense_Mutation_p.G677E 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 677 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) AGACTTGATCCCGTCGTACAT 0.557000 69 193 0 0 0.000781405 0 0 CACNA2D1 781 broad.mit.edu 37 7 81714125 81714125 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:81714125C>T ENST00000356860.3 - 7 956 c.618G>A c.(616-618)caG>caA p.Q206Q CACNA2D1_ENST00000423588.1_Silent_p.Q206Q|CACNA2D1_ENST00000356253.5_Silent_p.Q206Q NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 206 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGCCAAAAACCTGCCACAATA 0.408000 15 59 0 0 0.000422831 0 0 APC 324 broad.mit.edu 37 5 112176564 112176564 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:112176564C>T ENST00000457016.1 + 16 5653 c.5273C>T c.(5272-5274)tCt>tTt p.S1758F CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.S1758F|APC_ENST00000257430.4_Missense_Mutation_p.S1758F P25054 APC_HUMAN adenomatous polyposis coli 1758 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GCGTCTTCTTCTGCACCCAAC 0.398000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 6 44 0 0 0.000157383 0 0 PKIA 5569 broad.mit.edu 37 8 79510748 79510748 + Silent SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:79510748A>C ENST00000396418.2 + 3 615 c.129A>C c.(127-129)gcA>gcC p.A43A PKIA_ENST00000518467.1_Silent_p.A43A|PKIA_ENST00000352966.5_Silent_p.A43A NM_006823.3|NM_181839.2 NP_006814.1|NP_862822.1 P61925 IPKA_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor alpha 43 cAMP-dependent protein kinase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 6 TGAAATTAGCAGGTCTTGATA 0.393000 16 61 0 0 0.00121646 0 0 NLRP8 126205 broad.mit.edu 37 19 56465910 56465910 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:56465910C>T ENST00000291971.3 + 3 557 c.486C>T c.(484-486)ttC>ttT p.F162F NLRP8_ENST00000590542.1_Silent_p.F162F NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 162 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AAAAGTTTTTCCCCATATGGG 0.443000 23 34 0 0 0.00047179 0 0 COL22A1 169044 broad.mit.edu 37 8 139790639 139790639 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:139790639C>T ENST00000303045.6 - 15 2161 c.1715G>A c.(1714-1716)gGa>gAa p.G572E COL22A1_ENST00000435777.1_Missense_Mutation_p.G572E NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 572 Collagen-like 3.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.G572A(1)|p.G572S(1) 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) TCCAGGTGGTCCTTGGGGCCC 0.552000 HNSCC(7;0.00092) 4 35 0 0 0.00024832 0 0 COL3A1 1281 broad.mit.edu 37 2 189859813 189859813 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:189859813C>T ENST00000304636.3 + 21 1667 c.1497C>T c.(1495-1497)atC>atT p.I499I COL3A1_ENST00000317840.5_Silent_p.I499I NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 499 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) CAAATGGCATCCCAGGAGAAA 0.383000 23 73 0 0 0.000586117 0 0 ACTC1 70 broad.mit.edu 37 15 35083353 35083353 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:35083353C>T ENST00000290378.4 - 6 1607 c.952G>A c.(952-954)Gaa>Aaa p.E318K RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 318 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GCAGTGATTTCCTTCTGCATA 0.453000 44 188 0 0 0.000680045 0 0 ABCD2 225 broad.mit.edu 37 12 40012889 40012889 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:40012889T>C ENST00000308666.3 - 1 664 c.529A>G c.(529-531)Act>Gct p.T177A NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 177 ABC transmembrane type-1.|Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 ACTAGGCGAGTTCTGAAGGCC 0.423000 26 66 0 0 0.00209593 0 0 IFITM2 10581 broad.mit.edu 37 11 309089 309089 + Missense_Mutation SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:309089G>T ENST00000399817.4 + 2 353 c.323G>T c.(322-324)tGg>tTg p.W108L IFITM2_ENST00000602569.1_Missense_Mutation_p.W88L|IFITM2_ENST00000533141.1_Missense_Mutation_p.W88L NM_006435.2 NP_006426.2 Q01629 IFM2_HUMAN interferon induced transmembrane protein 2 108 response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) CTGAACATCTGGGCCCTGATT 0.587000 6 54 0.00198382 0.0087276 0.00198382 1 0 FAM129A 116496 broad.mit.edu 37 1 184764460 184764460 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:184764460C>T ENST00000367511.3 - 14 2631 c.2438G>A c.(2437-2439)gGg>gAg p.G813E FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 813 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TGGGAGCTCCCCCTCCATGGG 0.657000 12 27 0 0 0.00136819 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42863329 42863329 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:42863329G>A ENST00000455697.1 - 4 592 c.307C>T c.(307-309)Cag>Tag p.Q103* PRICKLE1_ENST00000445766.2_Nonsense_Mutation_p.Q103*|PRICKLE1_ENST00000552240.1_Nonsense_Mutation_p.Q103*|PRICKLE1_ENST00000548696.1_Nonsense_Mutation_p.Q103*|PRICKLE1_ENST00000345127.3_Nonsense_Mutation_p.Q103* NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 103 PET. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) TTCTTCCGCTGAGCACTGAAC 0.488000 19 32 0 0 0.000958276 0 0 NCLN 56926 broad.mit.edu 37 19 3192621 3192621 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:3192621C>T ENST00000246117.4 + 2 769 c.338C>T c.(337-339)cCc>cTc p.P113L NCLN_ENST00000590671.1_Missense_Mutation_p.P39L NM_020170.3 NP_064555.2 Q969V3 NCLN_HUMAN nicalin 113 proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding kidney(1)|lung(3)|skin(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) ATCATCCTGCCCAGGGCCATG 0.706000 14 42 0 0 0.000422831 0 0 TREML3P 340206 broad.mit.edu 37 6 41185596 41185596 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:41185596C>T ENST00000564680.1 - 0 89 GTAAGGTACACCGACTTGGCG 0.498000 9 15 0 0 0.000442599 0 0 FLG2 388698 broad.mit.edu 37 1 152324960 152324960 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:152324960C>T ENST00000388718.5 - 3 5374 c.5302G>A c.(5302-5304)Gga>Aga p.G1768R FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1768 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) TGTATAGTTCCATGTCTCTCA 0.502000 46 73 0 0 0.000680045 0 0 CASZ1 54897 broad.mit.edu 37 1 10719910 10719910 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:10719910G>A ENST00000377022.3 - 6 1506 c.1189C>T c.(1189-1191)Ccc>Tcc p.P397S CASZ1_ENST00000344008.5_Missense_Mutation_p.P397S NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 397 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) AGGGGTGCGGGAGCCAGGCTG 0.706000 12 39 0 0 0.00136819 0 0 ITIH2 3698 broad.mit.edu 37 10 7774362 7774362 + Missense_Mutation SNP C C T rs150529114 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:7774362C>T ENST00000358415.4 + 14 1875 c.1709C>T c.(1708-1710)tCg>tTg p.S570L ITIH2_ENST00000379587.4_Missense_Mutation_p.S559L NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 570 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.S570L(1) NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GATTTTCTATCGAAAGACAAG 0.488000 19 46 0 0 0.00152264 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26666622 26666622 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:26666622G>A ENST00000226225.2 + 2 342 c.75G>A c.(73-75)ttG>ttA p.L25L TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron NM_021137.4 NP_066960.1 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 (endothelial) 25 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GAGGAGGGTTGGGCAACAAGT 0.622000 20 48 0 0 0.00152264 0 0 CGN 57530 broad.mit.edu 37 1 151491794 151491794 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:151491794C>T ENST00000271636.7 + 2 932 c.799C>T c.(799-801)Cgt>Tgt p.R267C NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 261 Head.|Interacts with ZO-2. 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) TAGCCGTTCTCGTCAGACTCA 0.582000 6 48 0 0 0.00116845 0 0 A1CF 29974 broad.mit.edu 37 10 52603746 52603746 + Splice_Site SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:52603746A>C ENST00000395489.2 - 6 610 c.e6+1 A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000282641.2_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000373993.1_Splice_Site|A1CF_ENST00000374001.1_Splice_Site|A1CF_ENST00000373995.3_Splice_Site NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 ATTTGGACTCACTTTTTCACA 0.393000 21 121 0 0 0.000375601 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964370 88964370 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:88964370G>A ENST00000333190.4 + 4 2683 c.2074G>A c.(2074-2076)Gga>Aga p.G692R NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 692 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) TTCCGGATGTGGAAACCAAAG 0.448000 HNSCC(36;0.09) 10 14 0 0 0.000442599 0 0 KCNQ2 3785 broad.mit.edu 37 20 62046333 62046333 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:62046333C>T ENST00000354587.3 - 11 1540 c.1364G>A c.(1363-1365)aGc>aAc p.S455N KCNQ2_ENST00000370226.1_Missense_Mutation_p.S453N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.S455N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.S483N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.S465N|KCNQ2_ENST00000370222.3_Missense_Mutation_p.S455N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.S455N|KCNQ2_ENST00000430658.1_Missense_Mutation_p.S453N|KCNQ2_ENST00000344462.3_Missense_Mutation_p.S443N|KCNQ2_ENST00000359125.2_Missense_Mutation_p.S483N O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 483 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) GAAGCTCCAGCTCTTGGGCAC 0.692000 10 90 0 0 0.00136819 0 0 KIRREL 55243 broad.mit.edu 37 1 158064487 158064487 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:158064487C>T ENST00000368172.1 + 11 1305 c.1293C>T c.(1291-1293)tcC>tcT p.S431S KIRREL_ENST00000359209.6_Silent_p.S617S|KIRREL_ENST00000368173.3_Silent_p.S633S|KIRREL_ENST00000416935.2_Silent_p.S517S|KIRREL_ENST00000360089.4_Silent_p.S453S|KIRREL_ENST00000392272.2_Silent_p.S514S Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 617 Ig-like C2-type 5. 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) GCCCGTCTTCCAGGGCAGTGC 0.637000 16 37 0 0 0.000308642 0 0 TNXB 7148 broad.mit.edu 37 6 32065731 32065731 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:32065731G>A ENST00000375244.3 - 2 446 c.245C>T c.(244-246)tCc>tTc p.S82F TNXB_ENST00000375247.2_Missense_Mutation_p.S82F|TNXB_ENST00000479795.1_Missense_Mutation_p.S82F P22105 TENX_HUMAN tenascin XB 82 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 ACAGCCAGTGGAAGGGGGCAG 0.612000 79 139 0 0 0.000781405 0 0 NPHP1 4867 broad.mit.edu 37 2 110919263 110919263 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:110919263G>A ENST00000316534.4 - 10 1112 c.1039C>T c.(1039-1041)Cga>Tga p.R347* NPHP1_ENST00000355301.4_Nonsense_Mutation_p.R228*|NPHP1_ENST00000393272.3_Nonsense_Mutation_p.R346*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.R290*|NPHP1_ENST00000445609.2_Nonsense_Mutation_p.R291* O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 346 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 TAATTTGCTCGAAATTGATTC 0.353000 9 32 0 0 0.000442599 0 0 BLVRA 644 broad.mit.edu 37 7 43846743 43846743 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:43846743C>T ENST00000402924.1 + 9 963 c.800C>T c.(799-801)tCt>tTt p.S267F BLVRA_ENST00000265523.4_Missense_Mutation_p.S267F NM_001253823.1 NP_001240752.1 P53004 BIEA_HUMAN biliverdin reductase A 267 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) GGCCAGTTCTCTGAGAAGGAA 0.433000 19 39 0 0 0.00074312 0 0 CAPN5 726 broad.mit.edu 37 11 76823641 76823641 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:76823641C>T ENST00000278559.3 + 4 493 c.304C>T c.(304-306)Cca>Tca p.P102S CAPN5_ENST00000456580.2_Missense_Mutation_p.P142S|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.P102S NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 102 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 CCAGGTCATCCCAGACTGGAA 0.617000 14 46 0 0 0.000958276 0 0 DSC2 1824 broad.mit.edu 37 18 28671000 28671000 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:28671000G>A ENST00000280904.6 - 4 908 c.465C>T c.(463-465)ttC>ttT p.F155F DSC2_ENST00000251081.6_Silent_p.F155F NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 155 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CCTGTTGAAGGAAAAGTGGAA 0.398000 6 27 0 0 0.00198382 0 0 EMILIN3 90187 broad.mit.edu 37 20 39991348 39991348 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:39991348C>T ENST00000332312.3 - 4 1053 c.861G>A c.(859-861)cgG>cgA p.R287R NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 287 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) GTGGGGCTTCCCGCAGCCGCT 0.642000 8 33 0 0 0.000157383 0 0 HYDIN 54768 broad.mit.edu 37 16 70913365 70913365 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:70913365G>A ENST00000393567.2 - 62 10542 c.10392C>T c.(10390-10392)ctC>ctT p.L3464L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3464 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) TGTCAAACACGAGGCCTCGGC 0.567000 10 22 0 0 0.00185496 0 0 LIMCH1 22998 broad.mit.edu 37 4 41607998 41607998 + Missense_Mutation SNP G G A rs146838350 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:41607998G>A ENST00000313860.7 + 6 517 c.463G>A c.(463-465)Gga>Aga p.G155R LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000511496.1_5'UTR|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G155R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G155R|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G155R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G155R NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 155 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 GGAGTTTGAAGGATTGTTGGC 0.418000 14 35 0 0 0.000566183 0 0 SLC7A7 9056 broad.mit.edu 37 14 23243150 23243150 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:23243150C>T ENST00000397532.3 - 9 1946 c.1421G>A c.(1420-1422)aGg>aAg p.R474K SLC7A7_ENST00000285850.7_Missense_Mutation_p.R474K|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Missense_Mutation_p.R474K|SLC7A7_ENST00000554517.1_Missense_Mutation_p.R208K|SLC7A7_ENST00000555702.1_Missense_Mutation_p.R474K|SLC7A7_ENST00000397529.2_Missense_Mutation_p.R474K Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 474 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) ACCCACGATCCTTCGGAGGTA 0.498000 15 45 0 0 0.000566183 0 0 REG1P 5969 broad.mit.edu 37 2 79363185 79363185 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:79363185C>T ENST00000444841.1 - 0 1153 ACCCACTACTCCACTGATAAT 0.517000 5 10 0 0 0.00198382 0 0 UNC13C 440279 broad.mit.edu 37 15 54786930 54786930 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:54786930C>T ENST00000545554.1 + 19 5058 c.5058C>T c.(5056-5058)tcC>tcT p.S1686S UNC13C_ENST00000260323.11_Silent_p.S1686S|UNC13C_ENST00000537900.1_Silent_p.S1684S Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1686 MHD1. 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) CTGAATACTCCTTGTAAGTAG 0.348000 25 109 0 0 0.001512 0 0 MYH4 4622 broad.mit.edu 37 17 10362706 10362706 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:10362706G>A ENST00000255381.2 - 15 1559 c.1449C>T c.(1447-1449)ttC>ttT p.F483F CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 483 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 TCTCGTTGGTGAAGTTGATGC 0.418000 29 58 0 0 0.000491102 0 0 METTL4 64863 broad.mit.edu 37 18 2539090 2539090 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:2539090C>T ENST00000574538.1 - 9 2103 c.1328G>A c.(1327-1329)cGa>cAa p.R443Q METTL4_ENST00000319888.6_Silent_p.S412S NM_022840.3 NP_073751.3 Q8N3J2 METL4_HUMAN methyltransferase like 4 443 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 CTGTAAATTTCGAGCAAACAA 0.363000 31 76 0 0 0.000692331 0 0 ZNF208 7757 broad.mit.edu 37 19 22154164 22154164 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:22154164G>A ENST00000397126.4 - 4 3820 c.3672C>T c.(3670-3672)ccC>ccT p.P1224P ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.P1096P(2)|p.P1224P(1) 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) CACATTTGTAGGGTTTCTCTC 0.383000 4 31 0 0 0.00024832 0 0 SYN2 6854 broad.mit.edu 37 3 12203206 12203206 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:12203206G>A ENST00000432424.2 + 0 1009 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 TGTCACTGATGAATTCTTTCC 0.493000 19 62 0 0 0.00074312 0 0 TRIML2 205860 broad.mit.edu 37 4 189012810 189012810 + Missense_Mutation SNP G G A rs141991055 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:189012810G>A ENST00000512729.1 - 7 1255 c.881C>T c.(880-882)tCg>tTg p.S294L TRIML2_ENST00000326754.3_Missense_Mutation_p.S319L NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 294 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CCCCATCACCGACCCCGTGAG 0.572000 36 127 0 0 0.00128727 0 0 ICAM4 3386 broad.mit.edu 37 19 10398348 10398348 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:10398348C>T ENST00000340992.4 + 2 493 c.454C>T c.(454-456)Cga>Tga p.R152* CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Silent_p.S177S|ICAM4_ENST00000393717.2_Silent_p.S177S NM_001039132.2 NP_001034221.1 Q14773 ICAM4_HUMAN intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 0 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding breast(1)|large_intestine(3)|lung(2)|pancreas(1) 7 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TCATCTATTCCGAAAGCCTGG 0.602000 22 49 0 0 0.00152264 0 0 ZNF195 7748 broad.mit.edu 37 11 3380851 3380851 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:3380851C>T ENST00000354599.6 - 4 1275 c.1171G>A c.(1171-1173)Gag>Aag p.E391K ZNF195_ENST00000526601.1_Missense_Mutation_p.E444K|ZNF195_ENST00000343338.7_Missense_Mutation_p.E395K|ZNF195_ENST00000429541.2_Missense_Mutation_p.E395K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Missense_Mutation_p.E440K|ZNF195_ENST00000399602.4_Missense_Mutation_p.E463K NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 463 Missing (in Ref. 2; BAD18466). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) TAGGGTTTCTCTCCGGTGTGA 0.448000 13 67 0 0 0.000308642 0 0 LINC00969 440993 broad.mit.edu 37 3 195390979 195390979 + RNA SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:195390979T>C ENST00000445430.1 + 0 505 GGCATGCCGTTTAGCAGAACT 0.438000 4 120 0 0 0.000422831 0 0 FBXO18 84893 broad.mit.edu 37 10 5948548 5948548 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:5948548C>T ENST00000379999.5 + 4 963 c.859C>T c.(859-861)Ctg>Ttg p.L287L FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Silent_p.L236L|FBXO18_ENST00000397269.3_5'UTR NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 236 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 CTATTGGAACCTGAGCTTGGT 0.557000 23 78 0 0 0.000720815 0 0 DOCK7 85440 broad.mit.edu 37 1 63044524 63044524 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:63044524G>A ENST00000251157.5 - 17 2018 c.1985C>T c.(1984-1986)cCt>cTt p.P662L DOCK7_ENST00000340370.5_Missense_Mutation_p.P662L NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 662 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 TGTTTCAAGAGGAGTATTTTG 0.303000 34 166 0 0 0.00148497 0 0 LRRC61 65999 broad.mit.edu 37 7 150034029 150034029 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:150034029G>A ENST00000359623.4 + 3 667 c.79G>A c.(79-81)Gag>Aag p.E27K LRRC61_ENST00000493307.1_Missense_Mutation_p.E27K|LRRC61_ENST00000323078.7_Missense_Mutation_p.E27K NM_001142928.1 NP_001136400.1 Q9BV99 LRC61_HUMAN leucine rich repeat containing 61 27 endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) ACGCACAGGCGAGTTCTCCCT 0.637000 32 66 0 0 0.00178596 0 0 PLCD1 5333 broad.mit.edu 37 3 38061693 38061693 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:38061693G>A ENST00000463876.1 - 2 601 c.248C>T c.(247-249)cCg>cTg p.P83L PLCD1_ENST00000334661.4_Missense_Mutation_p.P62L NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 62 PH. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CTGGGACTCCGGGGTCCGCAT 0.567000 33 66 0 0 0.00170553 0 0 EDEM1 9695 broad.mit.edu 37 3 5244719 5244719 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:5244719C>T ENST00000256497.4 + 5 1060 c.927C>T c.(925-927)ctC>ctT p.L309L EDEM1_ENST00000445686.1_Silent_p.L114L NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 309 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) CCGGTTCCCTCCTGGTGGAAT 0.537000 31 75 0 0 0.000491102 0 0 MURC 347273 broad.mit.edu 37 9 103348428 103348428 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:103348428C>T ENST00000307584.5 + 2 855 c.790C>T c.(790-792)Ccc>Tcc p.P264S NM_001018116.1 NP_001018126.1 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 264 cell differentiation|muscle organ development|transcription, DNA-dependent endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) TAATGCAGCTCCCTCAAAGGA 0.517000 39 53 0 0 0.00148497 0 0 FRMD4B 23150 broad.mit.edu 37 3 69239092 69239092 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:69239092G>A ENST00000542259.1 - 19 2015 c.1564C>T c.(1564-1566)Ccc>Tcc p.P522S FRMD4B_ENST00000478263.1_Missense_Mutation_p.P228S|FRMD4B_ENST00000398540.3_Missense_Mutation_p.P576S Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 576 cytoplasm|cytoskeleton binding NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) CTCTCTGAGGGGATTATGTCT 0.328000 17 64 0 0 0.00074312 0 0 LRP1B 53353 broad.mit.edu 37 2 141202219 141202219 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:141202219G>A ENST00000389484.3 - 64 11058 c.10087C>T c.(10087-10089)Cag>Tag p.Q3363* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3363 LDL-receptor class A 22. 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) GTCCCACACTGAAATCGGCCT 0.418000 TSP Lung(27;0.18) 20 40 0 0 0.00229938 0 0 TNXB 7148 broad.mit.edu 37 6 32029366 32029366 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:32029366G>A ENST00000375244.3 - 21 7501 c.7300C>T c.(7300-7302)Ccc>Tcc p.P2434S TNXB_ENST00000375247.2_Missense_Mutation_p.P2434S P22105 TENX_HUMAN tenascin XB 2494 Fibronectin type-III 16. 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 CGGCCCTGGGGGACGGTCCAG 0.692000 96 136 0 0 0.000781405 0 0 CDH4 1002 broad.mit.edu 37 20 60503423 60503423 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:60503423C>T ENST00000360469.5 + 12 2035 c.1947C>T c.(1945-1947)ttC>ttT p.F649F CDH4_ENST00000543233.1_Silent_p.F575F NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 649 Cadherin 5. adherens junction organization|cell junction assembly calcium ion binding p.F649F(1) 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) CCTACGTCTTCGAGCTGCCCT 0.657000 9 99 0 0 0.000442599 0 0 PYGM 5837 broad.mit.edu 37 11 64521746 64521746 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:64521746C>T ENST00000164139.3 - 9 1469 c.1071G>A c.(1069-1071)ctG>ctA p.L357L PYGM_ENST00000377432.3_Silent_p.L269L NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 357 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CCATCCGTTCCAGGTCCACCA 0.647000 23 63 0 0 0.000586117 0 0 DYTN 391475 broad.mit.edu 37 2 207530676 207530676 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:207530676C>T ENST00000452335.2 - 10 1174 c.1058G>A c.(1057-1059)cGa>cAa p.R353Q NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 353 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TGTTTCAAATCGACAAATTCT 0.393000 23 65 0 0 0.000878237 0 0 GAK 2580 broad.mit.edu 37 4 887176 887176 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:887176G>A ENST00000314167.4 - 9 1089 c.979C>T c.(979-981)Ccc>Tcc p.P327S GAK_ENST00000511163.1_Missense_Mutation_p.P248S NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 327 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) TCTGTGATGGGAGACTTGGGG 0.672000 8 30 0 0 0.000274275 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175689 143175689 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:143175689C>T ENST00000408916.1 + 1 724 c.724C>T c.(724-726)Ctt>Ttt p.L242F EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 242 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CTTCCTCATTCTTTATGCTCT 0.512000 10 75 0 0 0.000978159 0 0 LY75 4065 broad.mit.edu 37 2 160734882 160734882 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:160734882C>T ENST00000263636.4 - 11 1754 c.1727G>A c.(1726-1728)gGa>gAa p.G576E LY75_ENST00000553424.1_Missense_Mutation_p.G576E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.G576E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.G576E|LY75_ENST00000554112.1_Missense_Mutation_p.G576E 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) CCGCCTTCTTCCACCAACAGT 0.408000 12 58 0 0 0.00185496 0 0 UNC13A 23025 broad.mit.edu 37 19 17759345 17759345 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:17759345C>T ENST00000428389.2 - 17 1974 c.1975G>A c.(1975-1977)Gag>Aag p.E659K UNC13A_ENST00000552293.1_Missense_Mutation_p.E571K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E571K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E569K|UNC13A_ENST00000519716.2_Missense_Mutation_p.E571K|UNC13A_ENST00000252773.7_Missense_Mutation_p.E571K Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 571 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 AGCAGCCCCTCGCACTCGTAG 0.627000 16 48 0 0 0.00074312 0 0 SLC34A2 10568 broad.mit.edu 37 4 25671398 25671398 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:25671398G>A ENST00000382051.3 + 7 815 c.765G>A c.(763-765)aaG>aaA p.K255K SLC34A2_ENST00000504570.1_Silent_p.K254K|SLC34A2_ENST00000503434.1_Silent_p.K254K NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 255 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TCCACTTCAAGAATGGAGAAG 0.493000 T ROS1 NSCLC 30 142 0 0 0.00178596 0 0 PWWP2B 170394 broad.mit.edu 37 10 134219149 134219149 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:134219149C>T ENST00000305233.5 + 2 1204 c.1145C>T c.(1144-1146)tCt>tTt p.S382F PWWP2B_ENST00000368609.4_Missense_Mutation_p.S382F NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 382 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GACTTGTCTTCTGGAAGTTCG 0.677000 13 79 0 0 0.000566183 0 0 GON4L 54856 broad.mit.edu 37 1 155723073 155723073 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:155723073G>A ENST00000437809.1 - 29 5886 c.5764C>T c.(5764-5766)Cca>Tca p.P1922S GON4L_ENST00000271883.5_Missense_Mutation_p.P1922S|GON4L_ENST00000368331.1_Missense_Mutation_p.P1922S Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1922 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CGCTCCTCTGGGGCTTCCTCT 0.602000 23 58 0 0 0.00188189 0 0 CNTN4 152330 broad.mit.edu 37 3 2787248 2787248 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:2787248C>T ENST00000397461.1 + 5 609 c.225C>T c.(223-225)ttC>ttT p.F75F CNTN4_ENST00000427331.1_Silent_p.F75F|CNTN4_ENST00000418658.1_Silent_p.F75F NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 75 Ig-like C2-type 1. 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 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) GTATGGATTTCCGCTACAGTG 0.383000 27 116 0 0 0.00209593 0 0 TM4SF5 9032 broad.mit.edu 37 17 4675331 4675331 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:4675331C>T ENST00000270560.3 + 1 145 c.114C>T c.(112-114)acC>acT p.T38T NM_003963.2 NP_003954.2 O14894 T4S5_HUMAN transmembrane 4 L six family member 5 38 integral to plasma membrane large_intestine(2)|lung(3)|ovary(1) 6 CCTCCTGGACCAACACCAACC 0.622000 39 63 0 0 0.00148497 0 0 CRISP1 167 broad.mit.edu 37 6 49803125 49803125 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:49803125G>A ENST00000335847.4 - 8 755 c.654C>T c.(652-654)ttC>ttT p.F218F CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000355791.2_Silent_p.F218F|CRISP1_ENST00000507853.1_3'UTR|CRISP1_ENST00000505118.1_Silent_p.F218F NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 218 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) TGTCACAGTCGAAGTATTCAT 0.383000 21 64 0 0 0.00188189 0 0 SPACA7 122258 broad.mit.edu 37 13 113086823 113086823 + Missense_Mutation SNP G G A rs150077672 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:113086823G>A ENST00000375699.3 + 5 590 c.418G>A c.(418-420)Gga>Aga p.G140R SPACA7_ENST00000283550.3_Missense_Mutation_p.G171R Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 171 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 TCAAAATATTGGAAGATCTTC 0.393000 15 47 0 0 0.000422831 0 0 ALPK2 115701 broad.mit.edu 37 18 56246303 56246303 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:56246303C>T ENST00000361673.3 - 4 1918 c.1705G>A c.(1705-1707)Gaa>Aaa p.E569K ALPK2_ENST00000587399.1_5'UTR NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 569 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 TCAGCAGATTCTTTGGCAGAG 0.522000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 35 0 0 0.00047179 0 0 SNHG14 104472715 broad.mit.edu 37 15 25436562 25436562 + RNA SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:25436562T>C ENST00000424208.1 + 0 1092 SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA NR_003305.1 TGCCCTGGGTTGGGTCGATGA 0.537000 40 199 0 0 0.000781405 0 0 DYSF 8291 broad.mit.edu 37 2 71883420 71883420 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:71883420G>A ENST00000258104.3 + 42 4915 c.4638_splice c.e42+1 p.K1546_splice DYSF_ENST00000409762.1_Splice_Site_p.K1563_splice|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Splice_Site_p.K1564_splice|DYSF_ENST00000409366.1_Splice_Site_p.K1568_splice|DYSF_ENST00000413539.2_Splice_Site_p.K1577_splice|DYSF_ENST00000409582.3_Splice_Site_p.K1584_splice|DYSF_ENST00000409744.1_Splice_Site_p.K1554_splice|DYSF_ENST00000429174.2_Splice_Site_p.K1567_splice|DYSF_ENST00000394120.2_Splice_Site_p.K1547_splice|DYSF_ENST00000409651.1_Splice_Site_p.K1578_splice|DYSF_ENST00000410020.3_Splice_Site_p.K1585_splice NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1546 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 GTGAATTTAAGGTAAATCCTC 0.522000 37 175 0 0 0.00128727 0 0 GLRA4 441509 broad.mit.edu 37 X 102974059 102974059 + Missense_Mutation SNP G G A rs111758425 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:102974059G>A ENST00000372617.4 - 7 1279 c.859C>T c.(859-861)Cgt>Tgt p.R287C NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 287 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.R287S(2) cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 AGGCCCACACGGGCAGGGGCA 0.577000 20 27 0 0 0.000958276 0 0 TENM1 10178 broad.mit.edu 37 X 123654524 123654524 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:123654524C>T ENST00000422452.2 - 18 3207 c.3144G>A c.(3142-3144)acG>acA p.T1048T TENM1_ENST00000371130.3_Silent_p.T1048T NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTACAGGAATCGTTGAATGTG 0.493000 9 32 0 0 0.000274275 0 0 PTGFR 5737 broad.mit.edu 37 1 78959146 78959146 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:78959146G>A ENST00000370756.3 + 2 955 c.718G>A c.(718-720)Ggc>Agc p.G240S PTGFR_ENST00000370757.3_Missense_Mutation_p.G240S|PTGFR_ENST00000370758.1_Missense_Mutation_p.G240S NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 240 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity 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) GCACAGACAAGGCAGATCTCA 0.413000 44 90 0 0 0.000781405 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032653 46032653 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:46032653C>T ENST00000334662.2 + 1 658 c.636C>T c.(634-636)ctC>ctT p.L212L TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 212 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 TGTCCCTCCTctgccgccctg 0.682000 19 90 0 0 0.00121646 0 0 CHD2 1106 broad.mit.edu 37 15 93515498 93515498 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:93515498C>A ENST00000394196.4 + 19 3424 c.2356C>A c.(2356-2358)Ctc>Atc p.L786I CHD2_ENST00000557381.1_Missense_Mutation_p.L786I NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 786 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) TCTTCAGTCCCTCATAAGGAG 0.338000 6 56 0.000157383 0.000698722 0.000157383 1 0 PLCZ1 89869 broad.mit.edu 37 12 18876287 18876287 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:18876287T>A ENST00000447925.2 - 4 588 c.319A>T c.(319-321)Att>Ttt p.I107F PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000266505.7_Missense_Mutation_p.I109F|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 109 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TCAAAAGCAATAGCTTTACTC 0.318000 8 16 0 0 0.000274275 0 0 SCAMP2 10066 broad.mit.edu 37 15 75143752 75143752 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:75143752G>A ENST00000268099.9 - 5 523 c.414C>T c.(412-414)tcC>tcT p.S138S NM_005697.3 NP_005688.2 O15127 SCAM2_HUMAN secretory carrier membrane protein 2 138 post-Golgi vesicle-mediated transport|protein transport integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 9 GGATCTCTGTGGAGAAATCCT 0.552000 11 60 0 0 0.00136819 0 0 OXCT1 5019 broad.mit.edu 37 5 41749663 41749663 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:41749663C>T ENST00000196371.5 - 15 1545 c.1385G>A c.(1384-1386)gGa>gAa p.G462E OXCT1_ENST00000510634.1_Missense_Mutation_p.G65E|OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.G276E|OXCT1_ENST00000512084.1_Missense_Mutation_p.G65E NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 462 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) ACATTGCTTTCCAGTCAATGG 0.299000 4 14 0 0 0.00116845 0 0 TEX11 56159 broad.mit.edu 37 X 69964064 69964064 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:69964064C>T ENST00000395889.2 - 11 898 c.743G>A c.(742-744)aGc>aAc p.S248N TEX11_ENST00000374333.2_Missense_Mutation_p.S233N|TEX11_ENST00000344304.3_Missense_Mutation_p.S248N NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 248 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) AATATCATAGCTTTGGCTATC 0.249000 4 14 0 0 0.00024832 0 0 OR4K14 122740 broad.mit.edu 37 14 20483307 20483307 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:20483307C>T ENST00000305045.2 - 1 45 c.46G>A c.(46-48)Gga>Aga p.G16R NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G16R(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GTGCAGAGTCCATGCAACACA 0.373000 15 21 0 0 0.00074312 0 0 CROCC 9696 broad.mit.edu 37 1 17263258 17263258 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:17263258C>T ENST00000375541.5 + 9 1152 c.1083C>T c.(1081-1083)gcC>gcT p.A361A CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 361 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGAAACAGGCCCTGCTGCAGG 0.687000 7 19 0 0 0.00198382 0 0 FRMD3 257019 broad.mit.edu 37 9 86004545 86004545 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:86004545G>A ENST00000304195.3 - 2 432 c.226C>T c.(226-228)Cgc>Tgc p.R76C FRMD3_ENST00000376438.1_Missense_Mutation_p.R76C NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 76 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 TCCACATAGCGAATGCCAAAG 0.498000 22 32 0 0 0.000720815 0 0 SI 6476 broad.mit.edu 37 3 164700134 164700134 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:164700134G>A ENST00000264382.3 - 47 5374 c.5312C>T c.(5311-5313)tCc>tTc p.S1771F NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1771 Sucrase. 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) TACATGAAGGGATCCAAGCCT 0.348000 HNSCC(35;0.089) 7 19 0 0 0.00198382 0 0 PCDH7 5099 broad.mit.edu 37 4 31144234 31144234 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:31144234C>T ENST00000543491.1 + 3 3531 c.3531C>T c.(3529-3531)ttC>ttT p.F1177F O60245 PCDH7_HUMAN protocadherin 7 0 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 TGTCCACTTTCATGCCTGTTG 0.547000 15 65 0 0 0.00074312 0 0 ZNF236 7776 broad.mit.edu 37 18 74587487 74587487 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:74587487T>C ENST00000253159.8 + 6 899 c.701T>C c.(700-702)tTt>tCt p.F234S ZNF236_ENST00000320610.9_Missense_Mutation_p.F236S NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 234 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GGAAAGGCTTTTAACCAGAAG 0.458000 OREG0025069 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 68 0 0 0.000566183 0 0 ZNF696 79943 broad.mit.edu 37 8 144378433 144378433 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:144378433C>T ENST00000330143.3 + 3 997 c.588C>T c.(586-588)ctC>ctT p.L196L NM_030895.2 NP_112157.2 Q9H7X3 ZN696_HUMAN zinc finger protein 696 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GCTTCAACCTCCTCCGGCACC 0.726000 4 10 0 0 0.00024832 0 0 PDE6A 5145 broad.mit.edu 37 5 149240504 149240504 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:149240504G>A ENST00000255266.5 - 22 2656 c.2537C>T c.(2536-2538)cCc>cTc p.P846L NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 846 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCCTGGGCTGGGGTTTCCCCC 0.567000 4 19 0 0 0.000602214 0 0 SP100 6672 broad.mit.edu 37 2 231406721 231406721 + Missense_Mutation SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:231406721A>G ENST00000340126.4 + 28 2549 c.2518A>G c.(2518-2520)Atc>Gtc p.I840V AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA NM_001080391.1 NP_001073860.1 P23497 SP100_HUMAN SP100 nuclear antigen 0 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) CATGCGTCTCATCTTTCATAA 0.438000 10 45 0 0 0.00136819 0 0 ATP2B4 493 broad.mit.edu 37 1 203682370 203682370 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:203682370C>T ENST00000357681.5 + 14 3412 c.2289C>T c.(2287-2289)acC>acT p.T763T ATP2B4_ENST00000367218.3_Silent_p.T763T|ATP2B4_ENST00000367219.3_Silent_p.T751T|ATP2B4_ENST00000391954.2_Silent_p.T763T|ATP2B4_ENST00000341360.2_Silent_p.T763T NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 763 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) ACAAGCACACCCTGGTGAAAG 0.562000 11 68 0 0 0.000219431 0 0 MMP3 4314 broad.mit.edu 37 11 102709863 102709863 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:102709863C>T ENST00000299855.5 - 7 1303 c.1047G>A c.(1045-1047)aaG>aaA p.K349K NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 349 Hemopexin-like 2. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) AAACGAGGTCCTTGCTAGTAA 0.373000 21 39 0 0 0.00188189 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24873608 24873608 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:24873608G>A ENST00000396432.2 - 26 6096 c.5610C>T c.(5608-5610)atC>atT p.I1870I NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1869 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 GGGGATCTCCGATTTCTCCTC 0.532000 14 64 0 0 0.000219431 0 0 SLC6A1 6529 broad.mit.edu 37 3 11060385 11060385 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:11060385G>A ENST00000287766.4 + 5 892 c.e5+1 SLC6A1_ENST00000536032.1_Splice_Site|SLC6A1-AS1_ENST00000414969.2_RNA NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CTTCACCACGGTGAGTGGTCC 0.577000 15 35 0 0 0.000422831 0 0 MUC16 94025 broad.mit.edu 37 19 9074867 9074867 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9074867G>A ENST00000397910.4 - 3 12782 c.12579C>T c.(12577-12579)ttC>ttT p.F4193F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4195 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 TCTCAGACAAGAAAACTGAGG 0.507000 12 40 0 0 0.000422831 0 0 PLVAP 83483 broad.mit.edu 37 19 17488043 17488043 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:17488043G>A ENST00000252590.4 - 1 116 c.55C>T c.(55-57)Cgg>Tgg p.R19W NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 19 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CAGCAGCCCCGAGAGCTGCCC 0.622000 28 92 0 0 0.00058488 0 0 OR2A14 135941 broad.mit.edu 37 7 143826417 143826417 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:143826417C>T ENST00000408899.2 + 1 267 c.212C>T c.(211-213)tCc>tTc p.S71F NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) GTTGACATATCCTATGCTTCC 0.453000 33 152 0 0 0.000692331 0 0 TTN 7273 broad.mit.edu 37 2 179598488 179598488 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179598488C>T ENST00000589042.1 - 53 15852 c.15628G>A c.(15628-15630)Gaa>Aaa p.E5210K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E3966K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E4893K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4893 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) TTTCCGTCTTCTCTGATGACC 0.453000 28 101 0 0 0.00058488 0 0 RANBP17 64901 broad.mit.edu 37 5 170667947 170667947 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:170667947C>T ENST00000523189.1 + 23 2602 c.2438C>T c.(2437-2439)tCc>tTc p.S813F RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 813 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) CAGATCCTGTCCCTTGGGAGC 0.383000 T TRD@ ALL 16 71 0 0 0.000958276 0 0 PNPLA6 10908 broad.mit.edu 37 19 7615202 7615202 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:7615202C>T ENST00000221249.6 + 18 2147 c.1716C>T c.(1714-1716)ccC>ccT p.P572P PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000414982.3_Silent_p.P620P|PNPLA6_ENST00000545201.2_Silent_p.P546P|PNPLA6_ENST00000450331.3_Silent_p.P572P|PNPLA6_ENST00000600737.1_Silent_p.P611P NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 611 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 GCGCACAGCCCAGTGTGGTGC 0.642000 47 140 0 0 0.000781405 0 0 TG 7038 broad.mit.edu 37 8 134042252 134042252 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:134042252G>A ENST00000220616.4 + 41 7263 c.7223G>A c.(7222-7224)cGg>cAg p.R2408Q TG_ENST00000519543.1_Missense_Mutation_p.R541Q|TG_ENST00000377869.1_Missense_Mutation_p.R2351Q|TG_ENST00000542445.1_Missense_Mutation_p.R778Q NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2408 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAACTTTTCCGGAGAGCTGTG 0.607000 18 77 0 0 0.00229938 0 0 GADL1 339896 broad.mit.edu 37 3 30819706 30819706 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:30819706C>T ENST00000282538.5 - 14 1507 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K GADL1_ENST00000498387.1_5'UTR NM_207359.2 NP_997242.2 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 453 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) GGTCCTTCTTCCATCTCTCTG 0.328000 39 111 0 0 0.000589545 0 0 KLF7 8609 broad.mit.edu 37 2 207988766 207988766 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:207988766G>A ENST00000309446.6 - 2 841 c.465C>T c.(463-465)ctC>ctT p.L155L KLF7_ENST00000458272.1_Intron|KLF7_ENST00000412414.2_Silent_p.L127L|KLF7_ENST00000423015.1_Silent_p.L155L|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000421199.1_Silent_p.L122L NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 155 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) CCACGGCAGAGAGAGTTTGTG 0.597000 14 61 0 0 0.00074312 0 0 F5 2153 broad.mit.edu 37 1 169484697 169484697 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:169484697G>A ENST00000367796.3 - 24 6729 c.6528C>T c.(6526-6528)tcC>tcT p.S2176S F5_ENST00000495481.1_5'UTR|F5_ENST00000367797.3_Silent_p.S2171S P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 2171 F5/8 type C 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CCACCATGGAGGATTTCAGCC 0.438000 27 125 0 0 0.000692331 0 0 PTPRJ 5795 broad.mit.edu 37 11 48185143 48185143 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:48185143C>T ENST00000418331.2 + 23 4044 c.3692C>T c.(3691-3693)cCc>cTc p.P1231L NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1231 Tyrosine-protein phosphatase. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CAGAGTCCTCCCGAATCGCCG 0.488000 5 33 0 0 0.000602214 0 0 SLC12A1 6557 broad.mit.edu 37 15 48500145 48500145 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:48500145G>A ENST00000396577.3 + 2 444 c.229G>A c.(229-231)Gga>Aga p.G77R SLC12A1_ENST00000558405.1_Missense_Mutation_p.G77R|SLC12A1_ENST00000561031.1_Missense_Mutation_p.G77R|SLC12A1_ENST00000380993.3_Missense_Mutation_p.G77R|SLC12A1_ENST00000330289.6_Missense_Mutation_p.G77R NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 77 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) CCTCCAAAGTGGAGAAACTGC 0.423000 15 41 0 0 0.000308642 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147239 26147239 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 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 35 44 0 0 0.00058488 0 0 OR2A12 346525 broad.mit.edu 37 7 143793110 143793110 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:143793110C>T ENST00000408949.2 + 1 970 c.910C>T c.(910-912)Ctt>Ttt p.L304F NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) AAAGAGAGTCCTTTGGAAACA 0.433000 64 115 0 0 0.000781405 0 0 PML 5371 broad.mit.edu 37 15 74336704 74336704 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:74336704C>T ENST00000565898.1 + 8 1944 c.1860C>T c.(1858-1860)tcC>tcT p.S620S PML_ENST00000268058.3_Silent_p.S668S P29590 PML_HUMAN promyelocytic leukemia 668 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 TTCTGAGCTCCATGCGCCGCC 0.602000 T """RARA, PAX5""" """APL, ALL""" 17 61 0 0 0.000958276 0 0 COL6A6 131873 broad.mit.edu 37 3 130292986 130292986 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:130292986G>A ENST00000358511.6 + 7 3195 c.3164G>A c.(3163-3165)gGa>gAa p.G1055E COL6A6_ENST00000453409.2_Missense_Mutation_p.G1055E NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1055 Nonhelical region.|VWFA 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 TTTCCACTGGGAACTTTCATA 0.453000 7 29 0 0 0.00198382 0 0 SDK1 221935 broad.mit.edu 37 7 4188923 4188923 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:4188923G>A ENST00000404826.2 + 30 4592 c.4453G>A c.(4453-4455)Gtg>Atg p.V1485M SDK1_ENST00000389531.3_Missense_Mutation_p.V1485M NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1485 Fibronectin type-III 9. 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) AGAGCTCCTGGTGCCCCAGGC 0.667000 7 27 0 0 0.000274275 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102471549 102471549 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:102471549C>T ENST00000360184.4 + 26 5573 c.5409C>T c.(5407-5409)ctC>ctT p.L1803L NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1803 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 AGCCCCCACTCCGAAGGCGGA 0.532000 10 48 0 0 0.00136819 0 0 LRG1 116844 broad.mit.edu 37 19 4538062 4538062 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:4538062G>A ENST00000306390.6 - 2 1394 c.934C>T c.(934-936)Cgt>Tgt p.R312C CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 312 LRRCT. extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 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) TGAAGCCAACGATAGAGGTCG 0.592000 23 70 0 0 0.00106085 0 0 HORMAD1 84072 broad.mit.edu 37 1 150689631 150689631 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:150689631C>T ENST00000368995.4 - 3 266 c.12G>A c.(10-12)tgG>tgA p.W4* HORMAD1_ENST00000368993.2_Missense_Mutation_p.G54E|HORMAD1_ENST00000361824.2_Missense_Mutation_p.G54E|HORMAD1_ENST00000322343.7_Missense_Mutation_p.G54E|HORMAD1_ENST00000476530.1_5'UTR Q86X24 HORM1_HUMAN HORMA domain containing 1 0 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) ATATCTTGTTCCATAAGCGCA 0.328000 19 160 0 0 0.000375601 0 0 GLRA3 8001 broad.mit.edu 37 4 175580240 175580240 + Missense_Mutation SNP C C G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:175580240C>G ENST00000274093.3 - 8 1538 c.1036G>C c.(1036-1038)Gaa>Caa p.E346Q GLRA3_ENST00000340217.5_Missense_Mutation_p.E346Q NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 346 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) CTCAGAAGTTCTTTGTGTTGT 0.363000 6 66 0 0 0.00116845 0 0 PRR23B 389151 broad.mit.edu 37 3 138739176 138739176 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:138739176C>T ENST00000329447.5 - 1 592 c.328G>A c.(328-330)Gaa>Aaa p.E110K MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 110 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCTGAGCGTTCGTCGACGGAG 0.642000 13 74 0 0 0.000422831 0 0 DNAH5 1767 broad.mit.edu 37 5 13769652 13769652 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:13769652C>T ENST00000265104.4 - 57 9782 c.9678G>A c.(9676-9678)gcG>gcA p.A3226A DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3226 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) CCTTTTCTTTCGCTTCCAGTT 0.433000 Kartagener syndrome 19 119 0 0 0.00188189 0 0 FXYD5 53827 broad.mit.edu 37 19 35657203 35657203 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:35657203C>T ENST00000342879.3 + 7 1240 c.462C>T c.(460-462)ttC>ttT p.F154F FXYD5_ENST00000590686.1_Silent_p.F154F|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000543307.1_Silent_p.F154F|FXYD5_ENST00000541435.2_Silent_p.F154F|FXYD5_ENST00000392217.3_Silent_p.F83F|FXYD5_ENST00000588699.1_Silent_p.F154F|FXYD5_ENST00000392219.2_Silent_p.F154F|FXYD5_ENST00000423817.3_Silent_p.F154F Q96DB9 FXYD5_HUMAN FXYD domain containing ion transport regulator 5 154 microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion integral to membrane actin binding|cadherin binding|ion channel activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) CTGTGCTGTTCATCACAGGCA 0.552000 43 62 0 0 0.000781405 0 0 DVL1 1855 broad.mit.edu 37 1 1273960 1273960 + Silent SNP C C A rs148871455 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:1273960C>A ENST00000378888.5 - 12 1565 c.1281G>T c.(1279-1281)tcG>tcT p.S427S DVL1_ENST00000378891.5_Silent_p.S402S O14640 DVL1_HUMAN dishevelled segment polarity protein 1 427 DEP. canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) 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) TCTCCAGTCCCGAGTCTGGCA 0.652000 5 80 0.00116845 0.00515798 0.00116845 1 0 PTPRU 10076 broad.mit.edu 37 1 29630521 29630521 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:29630521G>A ENST00000373779.3 + 16 2760 c.2631G>A c.(2629-2631)aaG>aaA p.K877K PTPRU_ENST00000428026.2_Silent_p.K877K|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Silent_p.K877K|PTPRU_ENST00000323874.8_Silent_p.K877K|PTPRU_ENST00000356870.3_Silent_p.K877K|PTPRU_ENST00000345512.3_Silent_p.K887K NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 887 Mediates interaction with CTNNB1 (By similarity). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ACCAGATGAAGACGGCCGAGG 0.652000 38 68 0 0 0.000509022 0 0 ACO2 50 broad.mit.edu 37 22 41924005 41924005 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:41924005G>A ENST00000396512.3 + 17 2279 c.2262G>A c.(2260-2262)ctG>ctA p.L754L ACO2_ENST00000216254.4_Silent_p.L729L|POLR3H_ENST00000396504.2_3'UTR|POLR3H_ENST00000355209.4_3'UTR Q99798 ACON_HUMAN aconitase 2, mitochondrial 729 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 TTCAGGGCCTGAAGGACTTCA 0.617000 45 168 0 0 0.000781405 0 0 CLUH 23277 broad.mit.edu 37 17 2601573 2601573 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:2601573G>A ENST00000570628.1 - 10 1569 c.1464C>T c.(1462-1464)atC>atT p.I488I CLUH_ENST00000435359.1_Silent_p.I488I|CLUH_ENST00000538975.1_Silent_p.I488I|CLUH_ENST00000575014.1_Silent_p.I420I clustered mitochondria (cluA/CLU1) homolog GGATGCCGGGGATGATGGACT 0.667000 8 14 0 0 0.000673444 0 0 KCTD7 154881 broad.mit.edu 37 7 66103239 66103239 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:66103239G>A ENST00000275532.3 + 3 498 c.e3-1 KCTD7_ENST00000443322.1_Splice_Site NM_001167961.2|NM_153033.4 NP_001161433.1|NP_694578.1 Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 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 TTCCTGCTTAGAGATGTGCTG 0.557000 30 84 0 0 0.000692331 0 0 OR2T27 403239 broad.mit.edu 37 1 248814116 248814116 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:248814116G>A ENST00000344889.3 - 1 69 c.70C>T c.(70-72)Ccc>Tcc p.P24S NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P24S(1) breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGAAGCCAGGGGAAACGGGCG 0.493000 5 41 0 0 0.00198382 0 0 GSDMA 284110 broad.mit.edu 37 17 38127782 38127782 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:38127782C>T ENST00000301659.4 + 5 682 c.564C>T c.(562-564)tcC>tcT p.S188S NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 188 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 TCTAGGGATCCATAAATCACA 0.502000 19 15 0 0 0.00229938 0 0 ASUN 55726 broad.mit.edu 37 12 27070630 27070630 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:27070630G>A ENST00000261191.7 - 9 1462 c.926C>T c.(925-927)tCg>tTg p.S309L ASUN_ENST00000539625.1_Missense_Mutation_p.S208L NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 309 cell division|mitosis|regulation of mitotic cell cycle protein binding TTCTTTAAACGAGCCTTCTCG 0.353000 25 38 0 0 0.000878237 0 0 ABCC3 8714 broad.mit.edu 37 17 48750896 48750896 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:48750896G>A ENST00000285238.8 + 19 2556 c.2476G>A c.(2476-2478)Gat>Aat p.D826N NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 826 ABC transporter 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TGTGCTAGCTGATGGACAGGT 0.597000 22 34 0 0 0.000586117 0 0 NPAP1 23742 broad.mit.edu 37 15 24921093 24921093 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:24921093C>T ENST00000329468.2 + 1 553 c.79C>T c.(79-81)Ccc>Tcc p.P27S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CGCCCCCGCTCCCCTGTCCCG 0.701000 5 23 0 0 0.00116845 0 0 TRAIP 10293 broad.mit.edu 37 3 49878431 49878431 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:49878431G>A ENST00000331456.2 - 8 805 c.692C>T c.(691-693)tCc>tTc p.S231F TRAIP_ENST00000469027.1_Intron NM_005879.2 NP_005870.2 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 231 Interaction with CYLD. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCTTCTGGAGGAAAACAAATC 0.507000 OREG0015575 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 192 0 0 0.000781405 0 0 PLD2 5338 broad.mit.edu 37 17 4722387 4722387 + Missense_Mutation SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:4722387G>C ENST00000263088.6 + 22 2313 c.2182G>C c.(2182-2184)Gca>Cca p.A728P PLD2_ENST00000572940.1_Missense_Mutation_p.A728P NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 728 Catalytic. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) AGTGGGGACAGCATGGCGGGA 0.592000 21 33 0 0 0.00229938 0 0 NEB 4703 broad.mit.edu 37 2 152482047 152482047 + Splice_Site SNP C C T rs111863059 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:152482047C>T ENST00000397345.3 - 71 10655 c.e71+1 NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000604864.1_Splice_Site NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 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) AATGATCTTACCTCACTATAA 0.363000 5 21 0 0 0.000602214 0 0 SPATA4 132851 broad.mit.edu 37 4 177109326 177109326 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:177109326G>A ENST00000515234.1 - 4 1825 c.230C>T c.(229-231)gCc>gTc p.A77V SPATA4_ENST00000280191.2_Missense_Mutation_p.A250V Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 250 apoptosis|spermatogenesis NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10) 22 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) GCGCCCAGAGGCTTGGGCAGG 0.338000 7 76 0 0 0.000442599 0 0 MACC1 346389 broad.mit.edu 37 7 20198516 20198516 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:20198516C>T ENST00000400331.5 - 5 1776 c.1468G>A c.(1468-1470)Gag>Aag p.E490K MACC1_ENST00000589011.1_Missense_Mutation_p.E490K|MACC1_ENST00000332878.4_Missense_Mutation_p.E490K NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 490 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TTGGGAGGCTCCACTTGAACA 0.413000 33 38 0 0 0.000491102 0 0 PRSS48 345062 broad.mit.edu 37 4 152200991 152200991 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:152200991G>A ENST00000455694.2 + 2 98 c.96G>A c.(94-96)caG>caA p.Q32Q PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 32 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 TAGGTGGCCAGGATGCTGCTG 0.532000 7 45 0 0 0.00198382 0 0 CUZD1 50624 broad.mit.edu 37 10 124596429 124596429 + Silent SNP G G A rs138928505 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:124596429G>A ENST00000368904.1 - 7 1684 c.735C>T c.(733-735)gtC>gtT p.V245V CUZD1_ENST00000545804.1_Silent_p.V245V|CUZD1_ENST00000392790.1_Silent_p.V245V Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 245 CUB 2. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TAGACAACACGACAGTCAGAG 0.448000 10 59 0 0 0.000978159 0 0 ITIH5 80760 broad.mit.edu 37 10 7608174 7608174 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:7608174C>T ENST00000256861.6 - 13 2424 c.2346G>A c.(2344-2346)ggG>ggA p.G782G ITIH5_ENST00000298441.6_Silent_p.G568G|ITIH5_ENST00000446830.2_Silent_p.G564G|ITIH5_ENST00000397146.2_Intron NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 782 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.G782G(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GCCCCCAGCTCCCCACCACCA 0.567000 7 15 0 0 0.00198382 0 0 SLC6A9 6536 broad.mit.edu 37 1 44463298 44463298 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:44463298G>A ENST00000372310.3 - 14 1986 c.1821C>T c.(1819-1821)gtC>gtT p.V607V SLC6A9_ENST00000475075.2_Silent_p.V496V|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000357730.2_Silent_p.V626V|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000360584.2_Silent_p.V680V NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 680 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GCAGTGGCTGGACCTCGAAGC 0.662000 70 207 0 0 0.000781405 0 0 MAGEB6 158809 broad.mit.edu 37 X 26213017 26213017 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:26213017C>T ENST00000379034.1 + 2 1203 c.1054C>T c.(1054-1056)Cct>Tct p.P352S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 352 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CAACAGTGATCCTCCATGCTA 0.512000 12 14 0 0 0.00136819 0 0 METTL21B 25895 broad.mit.edu 37 12 58168519 58168519 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:58168519C>T ENST00000333012.5 + 3 444 c.397C>T c.(397-399)Ccc>Tcc p.P133S RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000300209.8_Intron|METTL21B_ENST00000551420.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000548256.1_Missense_Mutation_p.P91S|METTL21B_ENST00000552307.1_3'UTR NM_206914.1 NP_996797.1 Q96AZ1 MT21B_HUMAN methyltransferase like 21B 0 integral to membrane|intracellular methyltransferase activity endometrium(1)|lung(1) 2 TACCATGACTCCCTGGGAATC 0.557000 12 12 0 0 0.000422831 0 0 PSMA4 5685 broad.mit.edu 37 15 78834884 78834884 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:78834884G>A ENST00000044462.7 + 4 256 c.106G>A c.(106-108)Gga>Aga p.G36R PSMA4_ENST00000559082.1_Missense_Mutation_p.G36R|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000558281.1_Missense_Mutation_p.G36R|PSMA4_ENST00000560217.1_Intron|PSMA4_ENST00000558341.1_Missense_Mutation_p.G36R|PSMA4_ENST00000557929.1_3'UTR NM_002789.4 NP_002780.1 P25789 PSA4_HUMAN proteasome (prosome, macropain) subunit, alpha type, 4 36 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, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 CACCTGTTTGGGAATTTTAGC 0.398000 53 217 0 0 0.000781405 0 0 ACOT11 26027 broad.mit.edu 37 1 55060346 55060346 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:55060346A>T ENST00000371316.3 + 6 671 c.589A>T c.(589-591)Aac>Tac p.N197Y ACOT11_ENST00000343744.2_Missense_Mutation_p.N197Y|ACOT11_ENST00000481208.1_3'UTR NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 197 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 CCTCCTGGCCAACTGCGCCAT 0.667000 15 69 0 0 0.00074312 0 0 C8orf34 116328 broad.mit.edu 37 8 69621251 69621251 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:69621251G>A ENST00000337103.4 + 8 2523 c.931G>A c.(931-933)Gaa>Aaa p.E311K C8orf34_ENST00000325233.3_Missense_Mutation_p.E80K|C8orf34_ENST00000539993.1_Missense_Mutation_p.E336K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E422K Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 336 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CAACCTGGAAGAAAGGACAGA 0.348000 6 13 0 0 0.00198382 0 0 ZNF99 7652 broad.mit.edu 37 19 22940058 22940058 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:22940058G>A ENST00000397104.3 - 6 2272 c.2273C>T c.(2272-2274)tCc>tTc p.S758F 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) AAGGGTTGAGGAATTGTTAAA 0.348000 18 48 0 0 0.00152264 0 0 OR1L8 138881 broad.mit.edu 37 9 125330442 125330442 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:125330442G>A ENST00000304865.2 - 1 396 c.315C>T c.(313-315)ctC>ctT p.L105L NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 105 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 CCAAGGCATAGAGAAAATACA 0.498000 13 43 0 0 0.000308642 0 0 ABCG2 9429 broad.mit.edu 37 4 89039317 89039317 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:89039317C>T ENST00000237612.3 - 7 1330 c.785G>A c.(784-786)gGa>gAa p.G262E ABCG2_ENST00000515655.1_Missense_Mutation_p.G262E NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 262 ABC transporter. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) CATAAGTCTTCCTGAGGCCAA 0.428000 6 25 0 0 0.00198382 0 0 MUC16 94025 broad.mit.edu 37 19 9072625 9072625 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9072625G>A ENST00000397910.4 - 3 15024 c.14821C>T c.(14821-14823)Cct>Tct p.P4941S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4943 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 TCAGGGCCAGGGAAGGATGTA 0.498000 22 55 0 0 0.00229938 0 0 TP63 8626 broad.mit.edu 37 3 189587161 189587161 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:189587161G>A ENST00000264731.3 + 9 1267 c.1178G>A c.(1177-1179)cGa>cAa p.R393Q TP63_ENST00000392460.3_Missense_Mutation_p.R393Q|TP63_ENST00000392463.2_Missense_Mutation_p.R299Q|TP63_ENST00000382063.4_Missense_Mutation_p.R308Q|TP63_ENST00000440651.2_Missense_Mutation_p.R389Q|TP63_ENST00000354600.5_Missense_Mutation_p.R299Q|TP63_ENST00000320472.5_Missense_Mutation_p.R393Q|TP63_ENST00000392461.3_Missense_Mutation_p.R299Q|TP63_ENST00000456148.1_Missense_Mutation_p.R295Q|TP63_ENST00000418709.2_Missense_Mutation_p.R393Q|TP63_ENST00000449992.1_Missense_Mutation_p.R214Q|TP63_ENST00000437221.1_Missense_Mutation_p.R299Q NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 393 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ATCAAGAAACGAAGATCCCCA 0.413000 HNSCC(45;0.13) 13 26 0 0 0.000422831 0 0 INTS2 57508 broad.mit.edu 37 17 59949765 59949765 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:59949765G>A ENST00000444766.3 - 20 2738 c.2663C>T c.(2662-2664)tCt>tTt p.S888F INTS2_ENST00000251334.6_Missense_Mutation_p.S880F NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 888 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 GTAGGCTTTAGATGCAAGAAG 0.388000 7 24 0 0 0.000274275 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43552724 43552724 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:43552724G>A ENST00000430334.3 - 4 798 c.665C>T c.(664-666)tCc>tTc p.S222F PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S133F NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 222 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) ATGGGAAATGGAATCCAGAGA 0.557000 16 29 0 0 0.000566183 0 0 CCNK 8812 broad.mit.edu 37 14 99959117 99959117 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:99959117C>T ENST00000389879.5 + 2 226 c.103C>T c.(103-105)Ccc>Tcc p.P35S CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.P35S NM_001099402.1 NP_001092872.1 O75909 CCNK_HUMAN cyclin K 35 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding NS(1)|endometrium(2)|lung(3) 6 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) GGCTCATACACCCTCACAACT 0.512000 6 24 0 0 0.00198382 0 0 SERPINB12 89777 broad.mit.edu 37 18 61226926 61226926 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:61226926G>A ENST00000382768.1 + 3 419 c.419G>A c.(418-420)gGa>gAa p.G140E SERPINB12_ENST00000269491.1_Missense_Mutation_p.G120E Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 120 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 AGGCTTTATGGAGAGCAGGAA 0.448000 10 35 0 0 0.00136819 0 0 PAK7 57144 broad.mit.edu 37 20 9538306 9538306 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:9538306C>T ENST00000378429.3 - 8 2238 c.1692G>A c.(1690-1692)gtG>gtA p.V564V PAK7_ENST00000378423.1_Silent_p.V564V|PAK7_ENST00000353224.5_Silent_p.V564V NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 564 Protein kinase. 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) CCCTGTGAATCACTCCTTGGT 0.443000 6 39 0 0 0.00198382 0 0 COL23A1 91522 broad.mit.edu 37 5 177690259 177690259 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:177690259G>A ENST00000390654.3 - 9 946 c.589C>T c.(589-591)Cct>Tct p.P197S COL23A1_ENST00000407622.1_Missense_Mutation_p.P161S NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 197 Collagen-like 1.|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) TCGCCAGGAGGGCCCCGGGCC 0.652000 10 30 0 0 0.000442599 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857330 9857330 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:9857330G>A ENST00000396573.2 - 14 4380 c.4071C>T c.(4069-4071)ctC>ctT p.L1357L GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.L1357L|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Silent_p.L1357L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1357 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.L1357L(1) 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) GGTCTGGCAAGAGAGACTTGC 0.537000 14 31 0 0 0.000308642 0 0 SPICE1 152185 broad.mit.edu 37 3 113172677 113172677 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:113172677G>A ENST00000295872.4 - 14 2037 c.1778C>T c.(1777-1779)tCa>tTa p.S593L NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 593 cell division|mitosis centriole|spindle protein binding p.S593*(1) NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 CTCTTCACTTGAATTCTGAAT 0.428000 40 74 0 0 0.000781405 0 0 SMO 6608 broad.mit.edu 37 7 128845101 128845101 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:128845101C>T ENST00000249373.3 + 3 875 c.595C>T c.(595-597)Cgg>Tgg p.R199W NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 199 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.R199W(2) biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GCCCTTGGTTCGGACAGACAA 0.582000 Mis skin basal cell 16 34 0 0 0.000958276 0 0 OR13C2 392376 broad.mit.edu 37 9 107367354 107367354 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:107367354C>T ENST00000542196.1 - 1 597 c.555G>A c.(553-555)atG>atA p.M185I NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 AGGCCAGTTTCATGACAGCCA 0.398000 12 75 0 0 0.00185496 0 0 LIPT1 51601 broad.mit.edu 37 2 99778604 99778604 + Missense_Mutation SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:99778604A>G ENST00000393477.3 + 4 536 c.184A>G c.(184-186)Att>Gtt p.I62V MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Missense_Mutation_p.I62V|LIPT1_ENST00000393471.2_Missense_Mutation_p.I62V|LIPT1_ENST00000393473.2_Missense_Mutation_p.I62V|LIPT1_ENST00000393474.3_Missense_Mutation_p.I62V NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 62 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) AGGCAAACCAATTCTATTCTT 0.373000 36 116 0 0 0.00195071 0 0 ZFP14 57677 broad.mit.edu 37 19 36831980 36831980 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:36831980G>A ENST00000270001.7 - 5 863 c.748C>T c.(748-750)Cat>Tat p.H250Y NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 250 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) TCACCCGTATGAAGTCTCTGA 0.448000 13 36 0 0 0.000219431 0 0 KMT2D 8085 broad.mit.edu 37 12 49436573 49436573 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:49436573G>A ENST00000301067.7 - 26 5732 c.5733C>T c.(5731-5733)acC>acT p.T1911T NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CTAGGCCAGGGGTTCCACAAC 0.542000 41 58 0 0 0.00195071 0 0 FAM104B 90736 broad.mit.edu 37 X 55172525 55172525 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:55172525G>A ENST00000425133.2 - 3 381 c.343C>T c.(343-345)Cca>Tca p.P115S FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.P113S|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Missense_Mutation_p.P111S NM_001166700.1|NM_001166701.1|NM_001166704.1 NP_001160172.1|NP_001160173.1|NP_001160176.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 0 endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 CATCATGTTGGAGCTTGCCCT 0.423000 4 12 0 0 0.00024832 0 0 PAM 5066 broad.mit.edu 37 5 102342696 102342696 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:102342696C>T ENST00000438793.3 + 18 2465 c.1995C>T c.(1993-1995)ttC>ttT p.F665F PAM_ENST00000346918.2_Silent_p.F665F|PAM_ENST00000304400.7_Silent_p.F665F|PAM_ENST00000274392.9_Silent_p.F568F|PAM_ENST00000455264.2_Silent_p.F665F|PAM_ENST00000379787.4_Silent_p.F45F|PAM_ENST00000348126.2_Silent_p.F558F 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 665 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (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) GTGGAAAGTTCATCACACAGT 0.443000 6 21 0 0 0.00116845 0 0 F8 2157 broad.mit.edu 37 X 154159549 154159549 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:154159549G>A ENST00000360256.4 - 14 2716 c.2516C>T c.(2515-2517)cCa>cTa p.P839L NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 839 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCCAGGTGATGGATCATCAGA 0.453000 5 14 0 0 0.00116845 0 0 CRB2 286204 broad.mit.edu 37 9 126132639 126132639 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:126132639G>A ENST00000373631.3 + 7 1308 c.1307G>A c.(1306-1308)gGc>gAc p.G436D CRB2_ENST00000359999.3_Missense_Mutation_p.G436D|CRB2_ENST00000373629.2_Missense_Mutation_p.G104D NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 436 EGF-like 9.|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 CCGTTCTGTGGCCAGAATACC 0.617000 26 38 0 0 0.000692331 0 0 KCNB1 3745 broad.mit.edu 37 20 47990206 47990206 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:47990206C>T ENST00000371741.4 - 2 2057 c.1891G>A c.(1891-1893)Ggt>Agt p.G631S NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 631 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCACTGGCACCCAGAGCTCCC 0.592000 14 28 0 0 0.00185496 0 0 PTPN12 5782 broad.mit.edu 37 7 77268027 77268027 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:77268027C>T ENST00000248594.6 + 17 2532 c.2260C>T c.(2260-2262)Cca>Tca p.P754S PTPN12_ENST00000415482.2_Missense_Mutation_p.P635S|PTPN12_ENST00000435495.2_Missense_Mutation_p.P624S NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 754 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 ATCAGAAAATCCAACAGAAGC 0.353000 44 122 0 0 0.000781405 0 0 SV2C 22987 broad.mit.edu 37 5 75596726 75596726 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:75596726G>A ENST00000502798.2 + 11 2251 c.1809G>A c.(1807-1809)ctG>ctA p.L603L RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Silent_p.L603L NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 603 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) CTGCTCTGCTGATGGACAGAA 0.453000 18 65 0 0 0.00229938 0 0 LCE2C 353140 broad.mit.edu 37 1 152648591 152648591 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:152648591C>T ENST00000368783.1 + 2 155 c.100C>T c.(100-102)Cca>Tca p.P34S LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 34 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) caaATGCCCACCACAGTGCCC 0.602000 17 87 0 0 0.00074312 0 0 PENK 5179 broad.mit.edu 37 8 57354400 57354400 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:57354400C>T ENST00000314922.3 - 2 311 c.235G>A c.(235-237)Gat>Aat p.D79N PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.D79N NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 79 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) CTGGTGCCATCTTGAGGAAGC 0.483000 31 104 0 0 0.000692331 0 0 TPO 7173 broad.mit.edu 37 2 1507821 1507821 + Missense_Mutation SNP G G A rs145974595 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:1507821G>A ENST00000345913.4 + 14 2579 c.2488G>A c.(2488-2490)Gag>Aag p.E830K TPO_ENST00000329066.4_Missense_Mutation_p.E830K|TPO_ENST00000349624.3_Missense_Mutation_p.E657K|TPO_ENST00000337415.3_Missense_Mutation_p.E830K|TPO_ENST00000382198.1_Missense_Mutation_p.E657K|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.E773K|TPO_ENST00000346956.3_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 830 EGF-like; calcium-binding (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGACCCCTACGAGTTAGGAGA 0.562000 11 62 0 0 0.000673444 0 0 MYBPC1 4604 broad.mit.edu 37 12 102071169 102071169 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:102071169G>A ENST00000549145.1 + 27 3224 c.3124G>A c.(3124-3126)Gat>Aat p.D1042N MYBPC1_ENST00000547509.1_Missense_Mutation_p.D997N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.D992N|MYBPC1_ENST00000550270.1_Missense_Mutation_p.D1029N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D998N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.D999N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.D1036N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D1029N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Missense_Mutation_p.D1029N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D912N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D1011N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D985N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D1011N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.D1029N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D1036N Q00872 MYPC1_HUMAN myosin binding protein C, slow type 1029 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 GATCGCCAGGGATGGTGAGTT 0.448000 14 19 0 0 0.000308642 0 0 VTN 7448 broad.mit.edu 37 17 26696014 26696014 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:26696014C>T ENST00000226218.4 - 5 1323 c.705G>A c.(703-705)ctG>ctA p.L235L SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA NM_000638.3 NP_000629.3 P04004 VTNC_HUMAN vitronectin 235 Hemopexin-like 2. cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) AATCAGGGTCCAGGACACCAT 0.597000 32 58 0 0 0.00111076 0 0 SLC26A7 115111 broad.mit.edu 37 8 92378808 92378808 + Splice_Site SNP G G A rs149167044 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:92378808G>A ENST00000276609.3 + 14 1728 c.1488_splice c.e14-1 p.E497_splice SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Splice_Site_p.E497_splice|SLC26A7_ENST00000309536.2_Splice_Site_p.E497_splice NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 497 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity p.E497K(1) breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) CCTCCAAAAGGAAACCCTGCA 0.313000 8 41 0 0 0.000157383 0 0 C3orf33 285315 broad.mit.edu 37 3 155485418 155485418 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:155485418T>C ENST00000534941.1 - 5 503 c.234A>G c.(232-234)gtA>gtG p.V78V C3orf33_ENST00000340171.2_Silent_p.V121V NM_173657.1 NP_775928.1 Q96NB5 Q96NB5_HUMAN chromosome 3 open reading frame 33 78 hydrolase activity, acting on ester bonds|nucleic acid binding breast(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CAGCGAGTTCTACTCCAGCCA 0.408000 4 23 0 0 0.000602214 0 0 CCDC30 728621 broad.mit.edu 37 1 43076720 43076720 + Silent SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:43076720A>G ENST00000428554.2 + 17 2598 c.1455A>G c.(1453-1455)gaA>gaG p.E485E CCDC30_ENST00000390640.4_Silent_p.E274E|CCDC30_ENST00000342022.4_Silent_p.E485E|CCDC30_ENST00000340612.4_Silent_p.E485E|CCDC30_ENST00000507855.1_Silent_p.E274E Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 485 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 CTCTACGTGAAGAATATTTGC 0.358000 23 62 0 0 0.000720815 0 0 SCN2A 6326 broad.mit.edu 37 2 166179830 166179830 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:166179830C>T ENST00000375437.2 + 12 2126 c.1836C>T c.(1834-1836)ttC>ttT p.F612F SCN2A_ENST00000375427.2_Silent_p.F612F|SCN2A_ENST00000357398.3_Silent_p.F612F|SCN2A_ENST00000283256.6_Silent_p.F612F NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 612 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) ACTCTCTGTTCGTGCCGCACA 0.557000 21 41 0 0 0.000375601 0 0 HSPG2 3339 broad.mit.edu 37 1 22155968 22155968 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:22155968A>T ENST00000374695.3 - 87 11979 c.11900T>A c.(11899-11901)cTg>cAg p.L3967Q HSPG2_ENST00000486901.1_5'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3967 Laminin G-like 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCCGCTGAACAGCAGGACCCC 0.657000 14 41 0 0 0.000422831 0 0 KCNG4 93107 broad.mit.edu 37 16 84270480 84270480 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:84270480C>T ENST00000568181.1 - 2 732 c.612G>A c.(610-612)atG>atA p.M204I KCNG4_ENST00000308251.4_Missense_Mutation_p.M204I Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 204 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 GCAGCCGGTTCATGCACAGGC 0.682000 16 24 0 0 0.00074312 0 0 SPG7 6687 broad.mit.edu 37 16 89598979 89598979 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:89598979C>T ENST00000268704.2 + 9 1274 c.1259C>T c.(1258-1260)aCc>aTc p.T420I SPG7_ENST00000341316.2_Missense_Mutation_p.T420I NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 420 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) CGCTCCACCACCATGTCCGGC 0.632000 27 59 0 0 0.00178596 0 0 BEND3 57673 broad.mit.edu 37 6 107392151 107392151 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:107392151G>A ENST00000429433.2 - 5 893 c.244C>T c.(244-246)Ctc>Ttc p.L82F BEND3_ENST00000369042.1_Missense_Mutation_p.L82F NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 82 central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 CCTGCTAGGAGAGCCTGCAAA 0.567000 11 24 0 0 0.000219431 0 0 DAPK3 1613 broad.mit.edu 37 19 3964824 3964824 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:3964824G>A ENST00000545797.2 - 3 471 c.228C>T c.(226-228)atC>atT p.I76I DAPK3_ENST00000301264.3_Silent_p.I76I O43293 DAPK3_HUMAN death-associated protein kinase 3 76 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 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) GCAGGGTGATGATGTTGGGGT 0.617000 20 51 0 0 0.00188189 0 0 KCNA6 3742 broad.mit.edu 37 12 4919931 4919931 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:4919931G>A ENST00000433855.1 + 1 1590 c.724G>A c.(724-726)Gaa>Aaa p.E242K KCNA6_ENST00000280684.3_Missense_Mutation_p.E242K NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 242 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 CACCCCTGGGGAAATGGGGAC 0.557000 HNSCC(72;0.22) 31 69 0 0 0.000953801 0 0 PLCE1 51196 broad.mit.edu 37 10 96006226 96006226 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:96006226G>A ENST00000260766.3 + 8 3578 c.2944G>A c.(2944-2946)Gac>Aac p.D982N PLCE1_ENST00000371385.3_Missense_Mutation_p.D674N|PLCE1_ENST00000371380.2_Missense_Mutation_p.D982N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D674N NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 982 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 liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TCAGACCACAGACAACAGATT 0.453000 15 71 0 0 0.000566183 0 0 CYP4A11 1579 broad.mit.edu 37 1 47398684 47398684 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:47398684G>A ENST00000310638.4 - 10 1289 c.1258C>T c.(1258-1260)Cac>Tac p.H420Y CYP4A11_ENST00000371904.4_Missense_Mutation_p.H421Y|CYP4A11_ENST00000371905.1_Missense_Mutation_p.H420Y|CYP4A11_ENST00000475477.1_Intron NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 420 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TTTGGGTTGTGGTGAAGGCCA 0.517000 105 209 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9060131 9060131 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9060131C>T ENST00000397910.4 - 3 27518 c.27315G>A c.(27313-27315)ggG>ggA p.G9105G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9107 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 TTGAGTGGGTCCCTGACATAA 0.483000 9 26 0 0 0.000442599 0 0 PON3 5446 broad.mit.edu 37 7 94993217 94993217 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:94993217C>T ENST00000265627.5 - 6 663 c.653G>A c.(652-654)gGa>gAa p.G218E PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.G218E NM_000940.2 NP_000931.1 paraoxonase 3 p.G218E(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) ACTACAAAATCCTTTGGCCAC 0.428000 23 128 0 0 0.00178596 0 0 BDNF 627 broad.mit.edu 37 11 27680049 27680049 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:27680049C>T ENST00000525528.1 - 1 1156 c.63G>A c.(61-63)atG>atA p.M21I BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.M21I|BDNF_ENST00000395980.2_Missense_Mutation_p.M21I|BDNF_ENST00000530861.1_Missense_Mutation_p.M21I|BDNF_ENST00000395981.3_Missense_Mutation_p.M21I|BDNF_ENST00000314915.6_Missense_Mutation_p.M29I|BDNF_ENST00000356660.4_Missense_Mutation_p.M21I|BDNF_ENST00000395986.2_Missense_Mutation_p.M36I|BDNF_ENST00000533131.1_Missense_Mutation_p.M21I|BDNF_ENST00000395983.3_Missense_Mutation_p.M21I|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.M21I|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395978.3_Missense_Mutation_p.M21I|BDNF_ENST00000533246.1_Missense_Mutation_p.M21I|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.M103I|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.M21I|BDNF_ENST00000532997.1_Missense_Mutation_p.M21I|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.M21I|BDNF-AS_ENST00000530686.1_RNA NM_170735.5 NP_733931.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 21 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 TTGCTTCTTTCATGGGGGCAG 0.522000 26 137 0 0 0.00127121 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171766376 171766376 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:171766376G>A ENST00000311601.5 - 13 1903 c.1733C>T c.(1732-1734)cCa>cTa p.P578L SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 578 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTTGGGCTCTGGCCTCCTGCT 0.597000 26 134 0 0 0.000491102 0 0 ADCY8 114 broad.mit.edu 37 8 131922042 131922042 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:131922042C>T ENST00000286355.5 - 6 3644 c.1552G>A c.(1552-1554)Ggt>Agt p.G518S ADCY8_ENST00000377928.3_Missense_Mutation_p.G518S NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 518 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) CCCAAAACACCGCACAGCACC 0.473000 HNSCC(32;0.087) 13 76 0 0 0.00185496 0 0 CHGB 1114 broad.mit.edu 37 20 5904063 5904063 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:5904063G>A ENST00000378961.4 + 4 1477 c.1273G>A c.(1273-1275)Gag>Aag p.E425K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 425 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 CAGGGGAGGGGAGCCACGTGC 0.527000 23 57 0 0 0.000586117 0 0 BDH1 622 broad.mit.edu 37 3 197238901 197238901 + Silent SNP G G A rs116643903 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:197238901G>A ENST00000392379.1 - 8 1298 c.897C>T c.(895-897)atC>atT p.I299I BDH1_ENST00000358186.2_Silent_p.I299I|BDH1_ENST00000392378.2_Silent_p.I299I|BDH1_ENST00000441275.1_Silent_p.I212I NM_203314.2 NP_976059.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 299 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) TGACAGCATCGATGACAGGGG 0.572000 67 126 0 0 0.000781405 0 0 PHKA1 5255 broad.mit.edu 37 X 71846820 71846820 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:71846820C>T ENST00000373545.3 - 17 2232 c.e17+1 PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000373542.4_Splice_Site|PHKA1_ENST00000541944.1_Splice_Site 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) AGGTCACTTACCTTGCCCCAC 0.403000 18 30 0 0 0.00074312 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412315 105412315 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:105412315G>A ENST00000333244.5 - 7 9592 c.9473C>T c.(9472-9474)cCa>cTa p.P3158L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3158 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGACTTGCCTGGGGCAGACAC 0.587000 71 125 0 0 0.000781405 0 0 DSCAM 1826 broad.mit.edu 37 21 41711258 41711258 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:41711258C>T ENST00000400454.1 - 7 1772 c.1295G>A c.(1294-1296)gGa>gAa p.G432E NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 432 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) CAAAGGTGTTCCCTTCACGTT 0.522000 4 17 0 0 0.00024832 0 0 DCLK1 9201 broad.mit.edu 37 13 36700082 36700082 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:36700082C>T ENST00000255448.4 - 2 404 c.193G>A c.(193-195)Gga>Aga p.G65R DCLK1_ENST00000360631.3_Missense_Mutation_p.G65R|DCLK1_ENST00000379892.4_Missense_Mutation_p.G65R NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 65 Doublecortin 1. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity p.G65R(2) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TATCGATCTCCGTTTCGATAG 0.557000 11 54 0 0 0.000978159 0 0 NGFR 4804 broad.mit.edu 37 17 47583972 47583972 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:47583972G>A ENST00000172229.3 + 3 645 c.520G>A c.(520-522)Gag>Aag p.E174K RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.E80K NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 174 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 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) CGAGGACACCGAGCGCCAGCT 0.726000 14 12 0 0 0.00185496 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563620 228563620 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:228563620C>T ENST00000258403.3 - 3 882 c.811G>A c.(811-813)Gag>Aag p.E271K SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.E267K NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 271 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) GAGTAGCACTCCTTCAAATCT 0.468000 16 64 0 0 0.00121646 0 0 NRXN1 9378 broad.mit.edu 37 2 50733674 50733674 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:50733674T>A ENST00000404971.1 - 14 3915 c.2576A>T c.(2575-2577)aAa>aTa p.K859I NRXN1_ENST00000402717.3_Missense_Mutation_p.K811I|NRXN1_ENST00000401669.2_Missense_Mutation_p.K819I|NRXN1_ENST00000405472.3_Missense_Mutation_p.K811I|NRXN1_ENST00000406316.2_Missense_Mutation_p.K819I|NRXN1_ENST00000406859.3_Missense_Mutation_p.K819I|NRXN1_ENST00000331040.5_5'UTR NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 819 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTTTAAACTTTTTCCACGCCG 0.443000 7 20 0 0 0.00198382 0 0 ASAP3 55616 broad.mit.edu 37 1 23760133 23760133 + Missense_Mutation SNP C C T rs138556791 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:23760133C>T ENST00000336689.3 - 20 2049 c.2005G>A c.(2005-2007)Gag>Aag p.E669K ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.E660K|ASAP3_ENST00000495646.1_Missense_Mutation_p.E173K NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 669 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 TCCTCACACTCCTTGTGGTGC 0.547000 23 73 0 0 0.000586117 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181661 140181661 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140181661C>T ENST00000522353.2 + 1 879 c.879C>T c.(877-879)ttC>ttT p.F293F PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.F293F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_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) TGTCAAAATTCCATTTAGATC 0.393000 35 119 0 0 0.00222228 0 0 KCND2 3751 broad.mit.edu 37 7 119915781 119915781 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:119915781C>T ENST00000331113.4 + 1 2060 c.1095C>T c.(1093-1095)atC>atT p.I365I NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 365 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGTATACCATCGTCACCATGA 0.507000 16 59 0 0 0.000958276 0 0 PHKA1 5255 broad.mit.edu 37 X 71925095 71925095 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:71925095C>T ENST00000373545.3 - 3 676 c.e3-1 PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000373542.4_Splice_Site|PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000541944.1_Splice_Site 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) TCACTACACTCTGCAGAAATA 0.383000 18 37 0 0 0.00229938 0 0 TTLL4 9654 broad.mit.edu 37 2 219617531 219617531 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:219617531C>T ENST00000392102.1 + 17 3362 c.3022C>T c.(3022-3024)Cgg>Tgg p.R1008W TTLL4_ENST00000258398.4_Missense_Mutation_p.R1008W|TTLL4_ENST00000457313.1_Missense_Mutation_p.R843W|TTLL4_ENST00000442769.1_Missense_Mutation_p.R944W NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1008 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) AGATGATGTTCGGATTCTGGT 0.478000 27 100 0 0 0.00209593 0 0 EDA2R 60401 broad.mit.edu 37 X 65819657 65819657 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:65819657G>A ENST00000374719.3 - 6 619 c.563C>T c.(562-564)tCt>tTt p.S188F EDA2R_ENST00000451436.2_Missense_Mutation_p.S64F|EDA2R_ENST00000450752.1_Missense_Mutation_p.S209F|EDA2R_ENST00000396050.1_Missense_Mutation_p.S188F|EDA2R_ENST00000456230.2_Missense_Mutation_p.S188F|EDA2R_ENST00000253392.5_Missense_Mutation_p.S209F NM_021783.3 NP_068555.1 Q9HAV5 TNR27_HUMAN ectodysplasin A2 receptor 188 cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 GGGGAAGAGAGATTCCTCCTT 0.532000 5 6 0 0 0.00116845 0 0 NOC3L 64318 broad.mit.edu 37 10 96097619 96097619 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:96097619G>A ENST00000371361.3 - 19 2204 c.2104C>T c.(2104-2106)Ccc>Tcc p.P702S NOC3L_ENST00000543788.1_Missense_Mutation_p.P440S|NOC3L_ENST00000371350.1_Missense_Mutation_p.P702S NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 702 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) TGCACTATGGGATGATAATGC 0.433000 15 67 0 0 0.000958276 0 0 OR10G8 219869 broad.mit.edu 37 11 123901117 123901117 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:123901117C>T ENST00000431524.1 + 1 821 c.788C>T c.(787-789)tCc>tTc p.S263F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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) AGGCCAGGCTCCAGGAAAGCT 0.532000 23 38 0 0 0.000375601 0 0 DYNLRB2 83657 broad.mit.edu 37 16 80583473 80583473 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:80583473C>T ENST00000305904.6 + 3 292 c.172C>T c.(172-174)Cgt>Tgt p.R58C DYNLRB2_ENST00000568035.1_Intron|DYNLRB2_ENST00000562982.1_Missense_Mutation_p.R87C|RP11-109P11.1_ENST00000568275.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000570222.1_3'UTR NM_130897.1 NP_570967.1 Q8TF09 DLRB2_HUMAN dynein, light chain, roadblock-type 2 58 microtubule-based movement|transport cytoplasmic dynein complex|microtubule microtubule motor activity large_intestine(1)|lung(4)|prostate(1) 6 AAGCACAGTTCGTGATATTGA 0.403000 19 31 0 0 0.000958276 0 0 RPLP0P6 220717 broad.mit.edu 37 2 38709181 38709181 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:38709181G>A ENST00000417039.1 - 0 696 TGATGCGCAAGGCCATCCGAG 0.572000 6 47 0 0 0.00198382 0 0 ADCK3 56997 broad.mit.edu 37 1 227152760 227152760 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:227152760C>T ENST00000366779.1 + 8 3008 c.237C>T c.(235-237)ttC>ttT p.F79F ADCK3_ENST00000366777.3_Silent_p.F79F|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366775.1_Intron|ADCK3_ENST00000366778.1_Silent_p.F27F|ADCK3_ENST00000366776.1_Intron|ADCK3_ENST00000458507.2_Intron Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 79 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 AAGGGGAGTTCCACTTCTCAG 0.592000 33 77 0 0 0.000953801 0 0 C22orf31 25770 broad.mit.edu 37 22 29455002 29455002 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:29455002C>T ENST00000216071.4 - 3 652 c.601G>A c.(601-603)Gac>Aac p.D201N NM_015370.1 NP_056185.1 O95567 CV031_HUMAN chromosome 22 open reading frame 31 201 cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 27 GTTAGCGTGTCCTCCGACAAC 0.592000 37 109 0 0 0.00128727 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524006 24524006 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:24524006C>T ENST00000376862.3 + 2 906 c.273C>T c.(271-273)atC>atT p.I91I NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 91 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 GGCCCAACATCATCCTCTATT 0.657000 18 59 0 0 0.00074312 0 0 PTPRT 11122 broad.mit.edu 37 20 40748582 40748582 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:40748582C>T ENST00000373198.3 - 21 3178 c.2943G>A c.(2941-2943)gcG>gcA p.A981A PTPRT_ENST00000373190.1_Silent_p.A958A|PTPRT_ENST00000373184.1_Silent_p.A949A|PTPRT_ENST00000373187.1_Silent_p.A959A|PTPRT_ENST00000373201.1_Silent_p.A949A|PTPRT_ENST00000373193.3_Silent_p.A962A|PTPRT_ENST00000356100.2_Silent_p.A968A NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 959 Tyrosine-protein phosphatase 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) TACCTTGAGTCGCAATGTAGT 0.507000 28 93 0 0 0.0024448 0 0 HCN1 348980 broad.mit.edu 37 5 45262164 45262164 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:45262164C>T ENST00000303230.4 - 8 2589 c.2532G>A c.(2530-2532)caG>caA p.Q844Q NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 844 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 CCGACGACATCTGTCGGAAGA 0.652000 14 56 0 0 0.000308642 0 0 OR2M4 26245 broad.mit.edu 37 1 248402872 248402872 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:248402872C>T ENST00000306687.1 + 1 642 c.642C>T c.(640-642)atC>atT p.I214I NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I214I(1) 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) TTTCAGTTATCATACTTTCCT 0.473000 18 28 0 0 0.00121646 0 0 AASS 10157 broad.mit.edu 37 7 121753694 121753694 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:121753694G>A ENST00000393376.1 - 9 1219 c.1124C>T c.(1123-1125)cCc>cTc p.P375L AASS_ENST00000417368.2_Missense_Mutation_p.P375L|AASS_ENST00000473553.1_Intron Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 375 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) CATGCAAAAGGGATGCTCTAT 0.368000 26 40 0 0 0.000720815 0 0 BEST3 144453 broad.mit.edu 37 12 70066703 70066703 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:70066703C>T ENST00000330891.5 - 8 1136 c.910G>A c.(910-912)Gat>Aat p.D304N BEST3_ENST00000476098.1_Missense_Mutation_p.D91N|BEST3_ENST00000488961.1_Missense_Mutation_p.D91N|BEST3_ENST00000331471.4_Missense_Mutation_p.D304N|BEST3_ENST00000553096.1_Missense_Mutation_p.D198N NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 304 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) GTTTCAAAATCATCATCATCT 0.323000 10 26 0 0 0.00185496 0 0 MACF1 23499 broad.mit.edu 37 1 39908123 39908123 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:39908123C>T ENST00000564288.1 + 77 19765 c.18988C>T c.(18988-18990)Cag>Tag p.Q6330* MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q4271*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q4773*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q4271*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q6229*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q4141*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q4271*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q6367* Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6338 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) TGGTCAGTTCCAGCATGCCTT 0.438000 25 92 0 0 0.000720815 0 0 TG 7038 broad.mit.edu 37 8 134146969 134146969 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:134146969G>A ENST00000220616.4 + 48 8278 c.8238G>A c.(8236-8238)acG>acA p.T2746T TG_ENST00000519543.1_Silent_p.T879T|TG_ENST00000377869.1_Silent_p.T2689T|TG_ENST00000542445.1_Silent_p.T1116T NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2746 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGAGTTGACGGCTGGATCTG 0.552000 5 28 0 0 0.000602214 0 0 IL18RAP 8807 broad.mit.edu 37 2 103061706 103061706 + Silent SNP C C T rs141693630 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:103061706C>T ENST00000264260.2 + 9 1567 c.978C>T c.(976-978)gtC>gtT p.V326V IL18RAP_ENST00000409369.1_Silent_p.V184V NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 326 Ig-like C2-type 2. 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 TGGAAAAAGTCACTCAGCGTG 0.393000 30 66 0 0 0.00209593 0 0 LYZL4 131375 broad.mit.edu 37 3 42448635 42448635 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:42448635C>T ENST00000287748.3 - 2 384 c.109G>A c.(109-111)Gat>Aat p.D37N LYZL4_ENST00000441172.1_Missense_Mutation_p.D37N|LYZL4_ENST00000470991.1_5'UTR NM_144634.2 NP_653235.1 Q96KX0 LYZL4_HUMAN lysozyme-like 4 37 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|endometrium(1)|lung(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) TCAAAATAATCCAGGCCTCCA 0.552000 13 63 0 0 0.00185496 0 0 CMYA5 202333 broad.mit.edu 37 5 79030637 79030637 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:79030637G>A ENST00000446378.2 + 2 6080 c.6049G>A c.(6049-6051)Gaa>Aaa p.E2017K NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2017 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) GATGGAGAGTGAAAGTTTGCT 0.408000 5 17 0 0 0.00116845 0 0 TRHR 7201 broad.mit.edu 37 8 110100421 110100421 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:110100421C>T ENST00000518632.1 + 2 1031 c.680C>T c.(679-681)cCt>cTt p.P227L TRHR_ENST00000311762.2_Missense_Mutation_p.P227L P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 227 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) CCTTCAGATCCTAAAGAAAAC 0.368000 6 42 0 0 0.00116845 0 0 SCN5A 6331 broad.mit.edu 37 3 38622542 38622542 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:38622542C>T ENST00000413689.1 - 17 3301 c.3108G>A c.(3106-3108)caG>caA p.Q1036Q SCN5A_ENST00000423572.2_Silent_p.Q1036Q|SCN5A_ENST00000451551.2_Silent_p.Q1036Q|SCN5A_ENST00000449557.2_Silent_p.Q1036Q|SCN5A_ENST00000450102.2_Silent_p.Q1036Q|SCN5A_ENST00000443581.1_Silent_p.Q1036Q|SCN5A_ENST00000333535.4_Silent_p.Q1036Q|SCN5A_ENST00000425664.1_Silent_p.Q1036Q|SCN5A_ENST00000455624.2_Silent_p.Q1036Q|SCN5A_ENST00000414099.2_Silent_p.Q1036Q NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1036 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) CGGGGGTGCCCTGGCCTGGTT 0.642000 18 43 0 0 0.000958276 0 0 ISM1 140862 broad.mit.edu 37 20 13251208 13251208 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:13251208G>A ENST00000262487.3 + 2 202 c.196G>A c.(196-198)Gaa>Aaa p.E66K TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 66 extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 TCTCTCCAAAGAAGCACCAAG 0.493000 8 27 0 0 0.000673444 0 0 CCDC129 223075 broad.mit.edu 37 7 31690788 31690788 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:31690788G>A ENST00000319386.3 + 12 3165 c.2172G>A c.(2170-2172)acG>acA p.T724T CCDC129_ENST00000451887.2_Silent_p.T898T|CCDC129_ENST00000409210.1_Silent_p.T780T|CCDC129_ENST00000407970.3_Silent_p.T872T Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 872 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 CCATGAAGACGATATGCCAAA 0.468000 8 70 0 0 0.000442599 0 0 DUSP27 92235 broad.mit.edu 37 1 167095812 167095812 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:167095812G>A ENST00000361200.2 + 6 1610 c.1444G>A c.(1444-1446)Gag>Aag p.E482K DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.E482K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E482K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 482 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CGCATGGAACGAGAGGCTGCT 0.647000 14 27 0 0 0.000219431 0 0 ACTG2 72 broad.mit.edu 37 2 74136191 74136191 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:74136191G>A ENST00000409624.1 + 6 1019 c.376G>A c.(376-378)Gaa>Aaa p.E126K ACTG2_ENST00000345517.3_Missense_Mutation_p.E126K|ACTG2_ENST00000409731.3_Missense_Mutation_p.E83K P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 126 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 GATCATGTTTGAAACCTTCAA 0.438000 36 81 0 0 0.00222228 0 0 TSHR 7253 broad.mit.edu 37 14 81606187 81606187 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:81606187T>A ENST00000541158.2 + 10 1179 c.857T>A c.(856-858)tTt>tAt p.F286Y RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.F286Y P16473 TSHR_HUMAN thyroid stimulating hormone receptor 286 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TGCTGTGCTTTTAAGAATCAG 0.453000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 8 35 0 0 0.000442599 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29451033 29451033 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:29451033C>T ENST00000283351.4 - 15 2448 c.2113G>A c.(2113-2115)Gaa>Aaa p.E705K TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E651K NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 705 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGAGAGGATTCAGAATCATAT 0.358000 8 23 0 0 0.000673444 0 0 PRR14L 253143 broad.mit.edu 37 22 32108135 32108135 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:32108135G>A ENST00000327423.6 - 4 5879 c.5690C>T c.(5689-5691)tCc>tTc p.S1897F PRR14L_ENST00000397493.2_Missense_Mutation_p.S1897F|PRR14L_ENST00000434485.1_Missense_Mutation_p.S1897F NM_173566.2 NP_775837.2 Q5THK1 PR14L_HUMAN proline rich 14-like 1897 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 GATTTCGAAGGAGCAGACAGA 0.527000 24 87 0 0 0.00047179 0 0 CUBN 8029 broad.mit.edu 37 10 17113553 17113553 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:17113553G>A ENST00000377833.4 - 19 2562 c.2497C>T c.(2497-2499)Cct>Tct p.P833S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 833 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.P833S(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TACACGTTAGGAAAAAAAGGC 0.418000 5 48 0 0 0.000157383 0 0 LONRF3 79836 broad.mit.edu 37 X 118151570 118151570 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:118151570C>T ENST00000365713.2 + 10 2237 c.2074C>T c.(2074-2076)Ccc>Tcc p.P692S LONRF3_ENST00000371628.3_Missense_Mutation_p.P733S|LONRF3_ENST00000422289.2_Missense_Mutation_p.P477S|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.P692S Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 733 Lon. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 AGCTCAGCTCCCCTTCCTAGC 0.507000 11 23 0 0 0.000673444 0 0 ZNF264 9422 broad.mit.edu 37 19 57723875 57723875 + Silent SNP C C T rs139384482 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:57723875C>T ENST00000263095.6 + 4 1824 c.1410C>T c.(1408-1410)ctC>ctT p.L470L ZNF264_ENST00000536056.1_Silent_p.L470L NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 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;0.0135) GGAAGGACCTCATTCGCCACT 0.537000 9 20 0 0 0.000442599 0 0 STYK1 55359 broad.mit.edu 37 12 10775235 10775235 + Splice_Site SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:10775235A>C ENST00000075503.3 - 9 1488 c.e9+1 NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 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 GCTCATCCTTACCTAGAGTCA 0.388000 HNSCC(73;0.22) 21 37 0 0 0.00047179 0 0 CTNNA3 29119 broad.mit.edu 37 10 68526055 68526055 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:68526055C>T ENST00000433211.1 - 9 1422 c.1248G>A c.(1246-1248)gcG>gcA p.A416A CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Silent_p.A416A NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 416 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CATGAAATATCGCAGCATATT 0.433000 16 78 0 0 0.000566183 0 0 TEKT2 27285 broad.mit.edu 37 1 36552870 36552870 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:36552870G>A ENST00000207457.3 + 7 940 c.813G>A c.(811-813)gaG>gaA p.E271E NM_014466.2 NP_055281.2 Q9UIF3 TEKT2_HUMAN tektin 2 (testicular) 271 cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCTGCGGGAGATGGAGAAAG 0.557000 13 63 0 0 0.000219431 0 0 SYNE2 23224 broad.mit.edu 37 14 64537419 64537419 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:64537419C>T ENST00000358025.3 + 52 10718 c.10488C>T c.(10486-10488)tcC>tcT p.S3496S SYNE2_ENST00000344113.4_Silent_p.S3496S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.S3529S|SYNE2_ENST00000555002.1_Silent_p.S130S NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3496 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) CTGAAATTTCCAAAACAAAAG 0.368000 5 35 0 0 0.00116845 0 0 MIER2 54531 broad.mit.edu 37 19 307313 307313 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:307313G>A ENST00000264819.4 - 13 1432 c.1422C>T c.(1420-1422)ttC>ttT p.F474F NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) 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) TGGGCAGGGCGAAGTCCACGG 0.687000 10 17 0 0 0.00136819 0 0 KIAA1324 57535 broad.mit.edu 37 1 109745579 109745579 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:109745579G>A ENST00000369939.3 + 22 3170 c.2987G>A c.(2986-2988)gGa>gAa p.G996E KIAA1324_ENST00000529753.1_Missense_Mutation_p.G909E|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 996 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) ACTCCTGATGGATTTGACTCA 0.542000 122 195 0 0 0.000781405 0 0 HGFAC 3083 broad.mit.edu 37 4 3445868 3445868 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:3445868C>T ENST00000382774.3 + 5 693 c.578C>T c.(577-579)aCc>aTc p.T193I HGFAC_ENST00000511533.1_Missense_Mutation_p.T193I NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 193 EGF-like 1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CGGGCCTTCACCGGCAAGGAC 0.692000 4 6 0 0 0.00024832 0 0 KXD1 79036 broad.mit.edu 37 19 18675783 18675783 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:18675783C>T ENST00000602094.1 + 3 1666 c.206C>T c.(205-207)aCc>aTc p.T69I KXD1_ENST00000595073.1_Missense_Mutation_p.T69I|KXD1_ENST00000222307.4_Missense_Mutation_p.T69I|KXD1_ENST00000598830.1_Missense_Mutation_p.T69I|KXD1_ENST00000601630.1_Missense_Mutation_p.T69I|KXD1_ENST00000599000.1_Missense_Mutation_p.T69I|KXD1_ENST00000539106.1_Missense_Mutation_p.T69I|KXD1_ENST00000599319.1_Missense_Mutation_p.T69I|KXD1_ENST00000540691.1_Missense_Mutation_p.T69I Q9BQD3 CS050_HUMAN KxDL motif containing 1 69 protein binding CACACGAGGACCCTAGTAGAG 0.592000 40 165 0 0 0.000509022 0 0 GALNT16 57452 broad.mit.edu 37 14 69787435 69787435 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:69787435G>A ENST00000337827.4 + 2 512 c.185G>A c.(184-186)gGa>gAa p.G62E GALNT16_ENST00000448469.3_Missense_Mutation_p.G62E|GALNT16_ENST00000553669.1_Missense_Mutation_p.G62E NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 CAGGTGACAGGAACTCCCTCG 0.607000 13 96 0 0 0.00074312 0 0 HSPA2 3306 broad.mit.edu 37 14 65008167 65008167 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:65008167C>T ENST00000247207.6 + 1 982 c.600C>T c.(598-600)atC>atT p.I200I HSPA2_ENST00000394709.1_Silent_p.I200I|HSPA2_ENST00000554883.1_3'UTR NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 200 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) ACGTGCTCATCTTTGACCTGG 0.647000 37 139 0 0 0.00195071 0 0 MACF1 23499 broad.mit.edu 37 1 39905145 39905145 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:39905145C>T ENST00000564288.1 + 72 19197 c.18420C>T c.(18418-18420)atC>atT p.I6140I MACF1_ENST00000545844.1_Silent_p.I4081I|MACF1_ENST00000289893.4_Silent_p.I4583I|MACF1_ENST00000361689.2_Silent_p.I4081I|MACF1_ENST00000372915.3_Silent_p.I6039I|MACF1_ENST00000539005.1_Silent_p.I3951I|MACF1_ENST00000317713.7_Silent_p.I4081I|MACF1_ENST00000567887.1_Silent_p.I6177I Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6148 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) ATCCTTCCATCATCAAACAAC 0.438000 32 117 0 0 0.00058488 0 0 OR4C12 283093 broad.mit.edu 37 11 50004008 50004008 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:50004008G>A ENST00000335238.4 - 1 63 c.30C>T c.(28-30)ttC>ttT p.F10F NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 CTATTAAAATGAATTCAGTCA 0.343000 10 35 0 0 0.00136819 0 0 MAPK13 5603 broad.mit.edu 37 6 36106805 36106805 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:36106805G>A ENST00000211287.4 + 11 1253 c.991G>A c.(991-993)Gag>Aag p.E331K MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.E321K|MAPK13_ENST00000373766.5_3'UTR NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 331 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 CTTAGAACACGAGAAACTCAC 0.597000 20 29 0 0 0.00188189 0 0 PRAM1 84106 broad.mit.edu 37 19 8564018 8564018 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:8564018G>A ENST00000423345.4 - 2 1194 c.674C>T c.(673-675)cCc>cTc p.P225L PRAM1_ENST00000255612.3_Missense_Mutation_p.P225L Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 273 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 AGGCTTTTTGGGGTACACGTT 0.637000 18 65 0 0 0.000375601 0 0 OR5P3 120066 broad.mit.edu 37 11 7847163 7847163 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:7847163G>A ENST00000328375.1 - 1 356 c.357C>T c.(355-357)gcC>gcT p.A119A RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGCGATCATAGGCCATGGCAG 0.552000 22 64 0 0 0.00188189 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92844816 92844816 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:92844816G>A ENST00000394468.2 - 3 690 c.613C>T c.(613-615)Cat>Tat p.H205Y HEPACAM2_ENST00000440868.1_Missense_Mutation_p.H193Y|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.H228Y|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.H193Y NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 205 Ig-like C2-type 1. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 GGAGCAATATGAAGGGTATTG 0.468000 21 26 0 0 0.000586117 0 0 TRABD 80305 broad.mit.edu 37 22 50632027 50632027 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:50632027C>T ENST00000303434.4 + 3 175 c.56C>T c.(55-57)cCg>cTg p.P19L TRABD_ENST00000395827.1_Missense_Mutation_p.P19L|TRABD_ENST00000395829.1_Missense_Mutation_p.P19L|TRABD_ENST00000380909.4_Missense_Mutation_p.P19L NM_025204.2 NP_079480.2 Q9H4I3 TRABD_HUMAN TraB domain containing 19 breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) LUAD - Lung adenocarcinoma(64;0.105) CCTGTTGTGCCGTCAGAGGCT 0.622000 27 74 0 0 0.000491102 0 0 MMP7 4316 broad.mit.edu 37 11 102395720 102395720 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:102395720C>T ENST00000260227.4 - 4 612 c.560G>A c.(559-561)gGa>gAa p.G187E NM_002423.3 NP_002414.1 P09237 MMP7_HUMAN matrix metallopeptidase 7 (matrilysin, uterine) 187 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) AGCATCTCCTCCGAGACCTGT 0.502000 23 46 0 0 0.000375601 0 0 FAT4 79633 broad.mit.edu 37 4 126336274 126336274 + Silent SNP T T G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:126336274T>G ENST00000394329.3 + 5 6169 c.6156T>G c.(6154-6156)ctT>ctG p.L2052L FAT4_ENST00000335110.5_Silent_p.L350L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2052 Cadherin 20. 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 CGACATTTCTTTCCCCTAAAT 0.413000 10 83 0 0 0.000673444 0 0 FBXO15 201456 broad.mit.edu 37 18 71797839 71797839 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:71797839C>T ENST00000269500.5 - 4 494 c.159G>A c.(157-159)tgG>tgA p.W53* FBXO15_ENST00000419743.2_Nonsense_Mutation_p.W129* NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 53 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) AATTAAATTTCCAATTTGATC 0.348000 5 45 0 0 0.000602214 0 0 SLC13A3 64849 broad.mit.edu 37 20 45239155 45239155 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:45239155G>A ENST00000279027.4 - 3 489 c.471C>T c.(469-471)gcC>gcT p.A157A SLC13A3_ENST00000396360.1_Silent_p.A110A|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Silent_p.A110A|SLC13A3_ENST00000495082.1_Silent_p.A110A|SLC13A3_ENST00000290317.5_Silent_p.A110A|SLC13A3_ENST00000372121.1_Silent_p.A157A|SLC13A3_ENST00000413164.2_Silent_p.A157A|SLC13A3_ENST00000339636.3_Silent_p.A157A|SLC13A3_ENST00000417157.2_Silent_p.A110A NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 157 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) TTTTCAGGATGGCATTGGCAA 0.552000 50 142 0 0 0.000781405 0 0 PRSS38 339501 broad.mit.edu 37 1 228003501 228003501 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:228003501C>T ENST00000366757.3 + 1 108 c.84C>T c.(82-84)ccC>ccT p.P28P NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 28 proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TGGCCCCTCCCCGGGTCGCAG 0.697000 5 27 0 0 0.00116845 0 0 MTNR1A 4543 broad.mit.edu 37 4 187454939 187454939 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:187454939G>A ENST00000307161.5 - 2 1158 c.957C>T c.(955-957)ttC>ttT p.F319F RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 319 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TGTCCACAAAGAACACCCTGG 0.438000 18 93 0 0 0.000958276 0 0 ANKRD28 23243 broad.mit.edu 37 3 15717478 15717478 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:15717478G>A ENST00000399451.2 - 27 3169 c.2802C>T c.(2800-2802)gcC>gcT p.A934A ANKRD28_ENST00000383777.1_Silent_p.A967A|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 934 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GCCCATTTCGGGCAGCAACAT 0.433000 21 51 0 0 0.00047179 0 0 EIF2D 1939 broad.mit.edu 37 1 206767083 206767083 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:206767083G>A ENST00000271764.2 - 14 1777 c.1569C>T c.(1567-1569)atC>atT p.I523I EIF2D_ENST00000472709.2_Intron|EIF2D_ENST00000367114.3_Silent_p.I399I NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D 523 SUI1. intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GCTGCTGAAGGATGGCAGCCA 0.627000 11 29 0 0 0.000673444 0 0 DSG4 147409 broad.mit.edu 37 18 28992824 28992824 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:28992824C>T ENST00000359747.4 + 15 2475 c.2446C>T c.(2446-2448)Cga>Tga p.R816* RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Nonsense_Mutation_p.R797* NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 797 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) AGATGAAGGTCGACCAGCCAA 0.398000 19 60 0 0 0.00229938 0 0 EMB 133418 broad.mit.edu 37 5 49699234 49699234 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:49699234C>T ENST00000303221.5 - 6 870 c.655G>A c.(655-657)Gaa>Aaa p.E219K EMB_ENST00000508934.1_Missense_Mutation_p.E165K|EMB_ENST00000514111.1_Missense_Mutation_p.E169K|EMB_ENST00000506190.1_5'UTR NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 219 Ig-like V-type 2. integral to membrane p.E219K(1) breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) AGCTTTGTTTCGTTAGCATAT 0.378000 5 18 0 0 0.000602214 0 0 FAT4 79633 broad.mit.edu 37 4 126411402 126411402 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:126411402G>A ENST00000394329.3 + 17 13438 c.13425G>A c.(13423-13425)caG>caA p.Q4475Q FAT4_ENST00000335110.5_Silent_p.Q2716Q NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4475 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.K4420fs*15(1)|p.K4477fs*15(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 TCTGTCCTCAGGGGAAGGTGT 0.612000 17 67 0 0 0.00121646 0 0 CYTH2 9266 broad.mit.edu 37 19 48981785 48981785 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:48981785C>T ENST00000427476.1 + 11 1351 c.1051C>T c.(1051-1053)Cac>Tac p.H351Y CYTH2_ENST00000452733.2_Missense_Mutation_p.H350Y NM_004228.6|NM_017457.5 NP_004219.3|NP_059431.1 Q99418 CYH2_HUMAN cytohesin 2 351 PH. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GGAGGGAAACCACATGGTGTA 0.592000 18 41 0 0 0.00121646 0 0 MBD5 55777 broad.mit.edu 37 2 149247097 149247097 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:149247097C>T ENST00000407073.1 + 12 4194 c.3197C>T c.(3196-3198)tCt>tTt p.S1066F MBD5_ENST00000404807.1_Missense_Mutation_p.S1299F NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1066 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) ATTGACCCATCTCTTGGTCAA 0.512000 16 55 0 0 0.00152264 0 0 AKR1C3 8644 broad.mit.edu 37 10 5139645 5139645 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:5139645G>A ENST00000380554.3 + 3 924 c.272G>A c.(271-273)cGa>cAa p.R91Q AKR1C3_ENST00000605149.1_Missense_Mutation_p.R68Q|AKR1C3_ENST00000439082.2_5'UTR|AKR1C3_ENST00000470862.2_3'UTR NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 91 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) ACTTTTCATCGACCAGAGTTG 0.393000 28 72 0 0 0.000692331 0 0 PSD4 23550 broad.mit.edu 37 2 113956440 113956440 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:113956440G>A ENST00000245796.6 + 15 2943 c.2748G>A c.(2746-2748)gtG>gtA p.V916V PSD4_ENST00000441564.2_Silent_p.V887V NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 916 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 TCCTGCCCGTGGGCCCCGCCC 0.721000 4 11 0 0 0.00024832 0 0 FAM83B 222584 broad.mit.edu 37 6 54805208 54805208 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:54805208G>A ENST00000306858.7 + 5 1555 c.1439G>A c.(1438-1440)cGa>cAa p.R480Q NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 480 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) TTGCAACAACGAATGCCAACC 0.413000 23 32 0 0 0.000720815 0 0 POP1 10940 broad.mit.edu 37 8 99146758 99146758 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:99146758T>C ENST00000401707.2 + 7 963 c.882T>C c.(880-882)ctT>ctC p.L294L POP1_ENST00000349693.3_Silent_p.L294L NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 294 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GCCTTGTGCTTTATCGGGTGA 0.502000 16 58 0 0 0.00121646 0 0 MYBPC1 4604 broad.mit.edu 37 12 102025377 102025377 + Silent SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:102025377C>A ENST00000549145.1 + 6 382 c.282C>A c.(280-282)gtC>gtA p.V94V MYBPC1_ENST00000547509.1_Silent_p.V67V|MYBPC1_ENST00000536007.1_Silent_p.V81V|MYBPC1_ENST00000550270.1_Silent_p.V81V|MYBPC1_ENST00000392934.3_Silent_p.V68V|MYBPC1_ENST00000541119.1_Silent_p.V69V|MYBPC1_ENST00000361685.2_Silent_p.V106V|MYBPC1_ENST00000452455.2_Silent_p.V81V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Silent_p.V81V|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000553190.1_Silent_p.V81V|MYBPC1_ENST00000547405.1_Silent_p.V55V|MYBPC1_ENST00000545503.2_Silent_p.V81V|MYBPC1_ENST00000360610.2_Silent_p.V81V|MYBPC1_ENST00000361466.2_Silent_p.V106V Q00872 MYPC1_HUMAN myosin binding protein C, slow type 81 Ig-like C2-type 1. KWFKG -> NGSR (in Ref. 1; CAA46987). 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 TAGCCAAAGTCAAGGCTGAAG 0.438000 53 69 2.69953e-25 1.21328e-24 0.000781405 1 0 OR7E24 26648 broad.mit.edu 37 19 9362159 9362159 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9362159C>T ENST00000456448.1 + 1 554 c.440C>T c.(439-441)cCc>cTc p.P147L NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 147 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 ATCTGTCACCCCCTGCACTAC 0.453000 16 73 0 0 0.000422831 0 0 ABCD4 5826 broad.mit.edu 37 14 74759884 74759884 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:74759884G>A ENST00000356924.4 - 8 930 c.787C>T c.(787-789)Ctg>Ttg p.L263L ABCD4_ENST00000298816.7_Silent_p.L159L|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000557588.1_Intron NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 263 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) TTGGACATCAGCTCCCTCTGG 0.602000 9 83 0 0 0.000978159 0 0 AMER3 205147 broad.mit.edu 37 2 131520353 131520353 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:131520353G>A ENST00000423981.1 + 2 818 c.708G>A c.(706-708)gaG>gaA p.E236E AMER3_ENST00000321420.4_Silent_p.E236E NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 CCCTGTGTGAGGACGTGGCCT 0.667000 23 121 0 0 0.000878237 0 0 CAPN13 92291 broad.mit.edu 37 2 30966436 30966436 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:30966436C>T ENST00000295055.8 - 13 1434 c.1258G>A c.(1258-1260)Gag>Aag p.E420K CAPN13_ENST00000534090.2_Missense_Mutation_p.E420K NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 420 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) GGAAATTTCTCCCGGAACCGC 0.478000 10 29 0 0 0.000978159 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33409391 33409391 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:33409391C>T ENST00000418600.2 + 13 2250 c.2149C>T c.(2149-2151)Ctc>Ttc p.L717F SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L658F|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L717F NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 717 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 ACTGCCCCGGCTCCTCAACGA 0.652000 9 25 0 0 0.000673444 0 0 CSPG4 1464 broad.mit.edu 37 15 75977176 75977176 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:75977176G>A ENST00000308508.5 - 5 4442 c.4350C>T c.(4348-4350)gcC>gcT p.A1450A NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1450 Gly/Ser-rich (glycosaminoglycan attachment domain). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CCATCTCGGAGGCATTAGCCA 0.592000 13 61 0 0 0.000219431 0 0 AOC1 26 broad.mit.edu 37 7 150558157 150558157 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:150558157C>T ENST00000493429.1 + 7 2700 c.2116C>T c.(2116-2118)Ccc>Tcc p.P706S AOC1_ENST00000467291.1_Missense_Mutation_p.P706S|AOC1_ENST00000360937.4_Missense_Mutation_p.P706S|AOC1_ENST00000416793.2_Missense_Mutation_p.P725S|AOC1_ENST00000480582.1_3'UTR amine oxidase, copper containing 1 CCCAGAGGACCCCTCCCTGGC 0.617000 7 37 0 0 0.000442599 0 0 SIRPG 55423 broad.mit.edu 37 20 1629872 1629872 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:1629872G>A ENST00000381580.1 - 2 336 c.157C>T c.(157-159)Ccc>Tcc p.P53S SIRPG_ENST00000344103.4_Missense_Mutation_p.P86S|SIRPG_ENST00000216927.4_Missense_Mutation_p.P86S|SIRPG_ENST00000381583.2_Missense_Mutation_p.P86S|SIRPG_ENST00000303415.3_Missense_Mutation_p.P86S Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 86 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GTTACCCTGGGGAAGTGGCCT 0.517000 30 71 0 0 0.00209593 0 0 CCDC105 126402 broad.mit.edu 37 19 15132481 15132481 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:15132481G>A ENST00000292574.3 + 5 1177 c.1095G>A c.(1093-1095)acG>acA p.T365T NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 365 microtubule cytoskeleton organization microtubule p.T365T(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 TCCGGTGTACGAAATATAACC 0.592000 32 61 0 0 0.00128727 0 0 ROBO2 6092 broad.mit.edu 37 3 77607227 77607227 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:77607227G>A ENST00000461745.1 + 9 2264 c.1364G>A c.(1363-1365)gGa>gAa p.G455E ROBO2_ENST00000487694.3_Missense_Mutation_p.G471E|ROBO2_ENST00000332191.8_Missense_Mutation_p.G455E NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 455 Ig-like C2-type 5. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TTAAAGGAGGGATTTACTTTT 0.443000 7 26 0 0 0.000274275 0 0 TMEM176B 28959 broad.mit.edu 37 7 150489175 150489175 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:150489175C>T ENST00000447204.2 - 6 1061 c.689G>A c.(688-690)cGa>cAa p.R230Q TMEM176B_ENST00000429904.2_Missense_Mutation_p.R230Q|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R230Q|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R230Q|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R230Q|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R193Q NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 230 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane p.R230Q(1) cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACACAAGTTTCGAAGACCTAC 0.567000 6 37 0 0 0.00198382 0 0 PPEF2 5470 broad.mit.edu 37 4 76804159 76804159 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:76804159C>T ENST00000286719.7 - 10 1209 c.853G>A c.(853-855)Gat>Aat p.D285N NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 285 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ACTTTCTCATCTATCAGAGTG 0.388000 15 59 0 0 0.000219431 0 0 AP3B2 8120 broad.mit.edu 37 15 83346056 83346056 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:83346056T>C ENST00000261722.3 - 13 1665 c.1458A>G c.(1456-1458)aaA>aaG p.K486K RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.K486K|AP3B2_ENST00000535348.1_Silent_p.K454K NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 486 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TTGCCAAGTGTTTGATGATCT 0.438000 8 31 0 0 0.000673444 0 0 EXD1 161829 broad.mit.edu 37 15 41509322 41509322 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:41509322G>A ENST00000314992.5 - 2 249 c.59C>T c.(58-60)tCa>tTa p.S20L EXD1_ENST00000559743.1_5'UTR|EXD1_ENST00000458580.2_Missense_Mutation_p.S78L NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 20 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 TGCTCTCACTGAGCCTTGTTC 0.358000 16 39 0 0 0.000958276 0 0 SNCAIP 9627 broad.mit.edu 37 5 121758579 121758579 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:121758579G>A ENST00000261367.7 + 6 1716 c.288G>A c.(286-288)tgG>tgA p.W96* SNCAIP_ENST00000261368.8_Nonsense_Mutation_p.W49*|SNCAIP_ENST00000379536.2_Nonsense_Mutation_p.W49*|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Nonsense_Mutation_p.W96*|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Nonsense_Mutation_p.W96* Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 49 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 p.W96*(2)|p.W49*(1) 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) GCTCTAGCTGGAATTGTGGCA 0.413000 7 39 0 0 0.000274275 0 0 AFF3 3899 broad.mit.edu 37 2 100185362 100185362 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:100185362A>T ENST00000317233.4 - 18 3169 c.2934T>A c.(2932-2934)gaT>gaA p.D978E AFF3_ENST00000356421.2_Missense_Mutation_p.D1003E|AFF3_ENST00000409579.1_Missense_Mutation_p.D1003E|AFF3_ENST00000409236.1_Missense_Mutation_p.D978E NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 978 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GCATAAAATAATCGGCACTGC 0.373000 34 118 0 0 0.000491102 0 0 CACNA1S 779 broad.mit.edu 37 1 201012548 201012548 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:201012548C>T ENST00000362061.3 - 40 5135 c.4909G>A c.(4909-4911)Gag>Aag p.E1637K CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1618K NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1637 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) GACTCCATCTCTTCCATCTCT 0.557000 OREG0014067 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 47 0 0 0.000566183 0 0 NETO1 81832 broad.mit.edu 37 18 70461626 70461626 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:70461626C>T ENST00000327305.6 - 5 1140 c.483G>A c.(481-483)aaG>aaA p.K161K NETO1_ENST00000299430.2_Silent_p.K160K|NETO1_ENST00000583169.1_Silent_p.K161K NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 161 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) CTCCAAGGTCCTTAAAGTCAG 0.294000 11 145 0 0 0.000978159 0 0 MTF1 4520 broad.mit.edu 37 1 38288307 38288307 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:38288307G>A ENST00000373036.4 - 9 1393 c.1253C>T c.(1252-1254)tCt>tTt p.S418F NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 418 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AAGTGGAAGAGATAAAGATGC 0.517000 21 116 0 0 0.000586117 0 0 CAPN6 827 broad.mit.edu 37 X 110489951 110489951 + Missense_Mutation SNP C C T rs138687868 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:110489951C>T ENST00000324068.1 - 13 1947 c.1780G>A c.(1780-1782)Ggg>Agg p.G594R CAPN6_ENST00000541758.1_Missense_Mutation_p.G339R NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 594 C2. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 GTAACCTGCCCCAAGAACTGA 0.527000 10 12 0 0 0.000673444 0 0 VAMP7 6845 broad.mit.edu 37 X 155169448 155169448 + Missense_Mutation SNP C C T rs138653672 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:155169448C>T ENST00000262640.6 + 6 600 c.517C>T c.(517-519)Cgt>Tgt p.R173C VAMP7_ENST00000286448.6_Silent_p.I195I|VAMP7_ENST00000460621.1_Silent_p.I154I|VAMP7_ENST00000479687.1_3'UTR NM_001185183.1 NP_001172112.1 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 0 v-SNARE coiled-coil homology. calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding large_intestine(1)|lung(8) 9 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCATCATCATCGTATCAATTG 0.348000 19 138 0 0 0.00229938 0 0 MGME1 92667 broad.mit.edu 37 20 17950806 17950806 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:17950806C>T ENST00000377710.5 + 2 592 c.304C>T c.(304-306)Cct>Tct p.P102S MGME1_ENST00000377709.1_Intron|MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377704.4_Missense_Mutation_p.P102S NM_052865.2 NP_443097.1 mitochondrial genome maintenance exonuclease 1 AAACTGGTTTCCTATCTTCAA 0.488000 30 96 0 0 0.00127121 0 0 SCN11A 11280 broad.mit.edu 37 3 38888697 38888697 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:38888697C>T ENST00000302328.3 - 26 5062 c.4864G>A c.(4864-4866)Gac>Aac p.D1622N SCN11A_ENST00000456224.3_Missense_Mutation_p.D1584N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D1622N NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1622 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) ATGTCAAAGTCATCTTCACCC 0.388000 27 92 0 0 0.0024448 0 0 CYP2C19 1557 broad.mit.edu 37 10 96612670 96612670 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:96612670G>A ENST00000371321.3 + 9 1554 c.1472G>A c.(1471-1473)tGa>tAa p.*491* CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 0 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) ATTCCTGTCTGAAGAAGCACA 0.493000 17 58 0 0 0.000958276 0 0 USP6 9098 broad.mit.edu 37 17 5071275 5071275 + Missense_Mutation SNP G G A rs149187210 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:5071275G>A ENST00000574788.1 + 34 5315 c.3085G>A c.(3085-3087)Gag>Aag p.E1029K USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.E1029K|USP6_ENST00000304328.5_Missense_Mutation_p.E712K P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 1029 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 AGCGCAAGCCGAGCCCATCAA 0.522000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 26 31 0 0 0.000878237 0 0 TMEM214 54867 broad.mit.edu 37 2 27257005 27257005 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:27257005G>A ENST00000238788.9 + 2 284 c.222G>A c.(220-222)gaG>gaA p.E74E TMEM214_ENST00000404032.3_Silent_p.E74E NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 74 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 AGAATAAGGAGCAGGTCCCAC 0.537000 19 71 0 0 0.00121646 0 0 C10orf120 399814 broad.mit.edu 37 10 124457679 124457679 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:124457679G>A ENST00000329446.4 - 3 609 c.578C>T c.(577-579)tCa>tTa p.S193L NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 193 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) AGACAGAAATGAGGAGCGTGT 0.483000 18 67 0 0 0.000566183 0 0 TBXAS1 6916 broad.mit.edu 37 7 139717613 139717613 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:139717613C>T ENST00000263552.6 + 16 2048 c.1510C>T c.(1510-1512)Caa>Taa p.Q504* TBXAS1_ENST00000425687.1_Nonsense_Mutation_p.Q436*|TBXAS1_ENST00000458722.1_Nonsense_Mutation_p.Q549*|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000448866.1_Nonsense_Mutation_p.Q503*|TBXAS1_ENST00000436047.2_Nonsense_Mutation_p.Q504*|TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000336425.5_Nonsense_Mutation_p.Q503*|TBXAS1_ENST00000416849.2_Nonsense_Mutation_p.Q550* NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 503 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GTTCCGGTTCCAAGCCTGCCC 0.687000 29 73 0 0 0.00058488 0 0 TRBV11-1 28582 broad.mit.edu 37 7 142223941 142223941 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:142223941C>T ENST00000390367.3 - 0 242 AACTGTGAATCATCTACTACA 0.512000 7 40 0 0 0.000157383 0 0 ACIN1 22985 broad.mit.edu 37 14 23549555 23549555 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:23549555G>A ENST00000262710.1 - 6 1490 c.1163C>T c.(1162-1164)tCc>tTc p.S388F ACIN1_ENST00000605057.1_Missense_Mutation_p.S330F|ACIN1_ENST00000457657.1_Missense_Mutation_p.S348F|ACIN1_ENST00000555053.1_Missense_Mutation_p.S388F NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 388 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCGAGGAGGGGAAGGAGACTT 0.473000 10 41 0 0 0.000978159 0 0 APOB 338 broad.mit.edu 37 2 21228894 21228894 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:21228894G>A ENST00000233242.1 - 26 10973 c.10846C>T c.(10846-10848)Ctt>Ttt p.L3616F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3616 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) TCCTGGCCAAGGTCAGGGAAA 0.493000 37 178 0 0 0.00111076 0 0 HOOK3 84376 broad.mit.edu 37 8 42829284 42829284 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:42829284C>T ENST00000307602.4 + 13 1468 c.1268C>T c.(1267-1269)aCc>aTc p.T423I NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 423 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) CTGAAGGAAACCATTGAAGAG 0.408000 T RET papillary thyroid 65 186 0 0 0.000781405 0 0 SCP2 6342 broad.mit.edu 37 1 53480614 53480614 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:53480614G>A ENST00000371514.3 + 12 1302 c.1134G>A c.(1132-1134)aaG>aaA p.K378K SCP2_ENST00000371509.4_Silent_p.K334K|SCP2_ENST00000430330.2_5'UTR|SCP2_ENST00000407246.2_Silent_p.K354K|SCP2_ENST00000408941.3_5'UTR|SCP2_ENST00000528311.1_Silent_p.K297K NM_002979.4 NP_002970.2 P22307 NLTP_HUMAN sterol carrier protein 2 378 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 AAGCCGGAAAGAGGCAAGTTC 0.522000 18 62 0 0 0.00074312 0 0 COL6A6 131873 broad.mit.edu 37 3 130312062 130312062 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:130312062G>A ENST00000358511.6 + 16 4467 c.4436G>A c.(4435-4437)gGa>gAa p.G1479E COL6A6_ENST00000453409.2_Missense_Mutation_p.G1479E NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1479 Triple-helical region. 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 GGTCTTCCTGGAAGAAAAGGA 0.378000 21 43 0 0 0.00229938 0 0 MYO1A 4640 broad.mit.edu 37 12 57435264 57435264 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:57435264C>T ENST00000442789.2 - 14 1403 c.1116G>A c.(1114-1116)aaG>aaA p.K372K MYO1A_ENST00000544473.1_Silent_p.K210K|MYO1A_ENST00000300119.3_Silent_p.K372K NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 372 Myosin head-like. 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 TTACCTTCTTCTTTTCCCCGA 0.537000 26 50 0 0 0.00127121 0 0 ITIH1 3697 broad.mit.edu 37 3 52823770 52823770 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:52823770G>A ENST00000273283.2 + 19 2245 c.2221G>A c.(2221-2223)Gac>Aac p.D741N ITIH1_ENST00000405128.3_Missense_Mutation_p.D107N|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Missense_Mutation_p.D453N|ITIH1_ENST00000540715.1_Missense_Mutation_p.D599N NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 741 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) CCCTGCCACGGACTTTCAGTT 0.592000 35 113 0 0 0.000692331 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47076520 47076520 + Silent SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:47076520C>A ENST00000290341.3 + 2 559 c.225C>A c.(223-225)ccC>ccA p.P75P IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Silent_p.P75P NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 75 RRM 1. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ATTCGGTGCCCAAAAAACAAA 0.488000 7 48 1.12685e-05 5.02384e-05 0.000274275 1 0 PSD3 23362 broad.mit.edu 37 8 18729663 18729663 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:18729663C>T ENST00000440756.2 - 3 813 c.711G>A c.(709-711)agG>agA p.R237R PSD3_ENST00000327040.8_Silent_p.R237R|PSD3_ENST00000523619.1_Silent_p.R172R Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 237 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) CAGCCCCTTTCCTCCCATTAT 0.507000 8 43 0 0 0.000274275 0 0 CROCC 9696 broad.mit.edu 37 1 17263259 17263259 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:17263259C>T ENST00000375541.5 + 9 1153 c.1084C>T c.(1084-1086)Ctg>Ttg p.L362L CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 362 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GAAACAGGCCCTGCTGCAGGC 0.687000 7 20 0 0 0.00198382 0 0 NLRC4 58484 broad.mit.edu 37 2 32476013 32476013 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:32476013G>A ENST00000404025.2 - 5 1408 c.920C>T c.(919-921)gCt>gTt p.A307V NLRC4_ENST00000360906.5_Missense_Mutation_p.A307V|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.A307V Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 307 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCGGATGAGAGCCTGGGCGCT 0.527000 16 47 0 0 0.00074312 0 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044362 90044362 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:90044362G>A ENST00000462693.1 + 0 313 GGCAGGGACAGATTTCACACT 0.517000 29 66 0 0 0.000953801 0 0 DEFA6 1671 broad.mit.edu 37 8 6782416 6782416 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:6782416C>T ENST00000297436.2 - 2 267 c.227G>A c.(226-228)aGg>aAg p.R76K NM_001926.3 NP_001917.1 Q01524 DEF6_HUMAN defensin, alpha 6, Paneth cell-specific 76 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) ATAACAGGACCTTCTGCAATG 0.478000 20 53 0 0 0.00152264 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596520 24596520 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:24596520C>T ENST00000535378.1 - 4 997 c.355G>A c.(355-357)Ggg>Agg p.G119R KIAA0319_ENST00000543707.1_Missense_Mutation_p.G128R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G83R|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G128R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.G128R NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 128 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 CCCCAGATCCCCGAGGGGGAG 0.552000 13 28 0 0 0.00185496 0 0 CUX2 23316 broad.mit.edu 37 12 111652091 111652091 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:111652091G>A ENST00000261726.6 + 2 305 c.151G>A c.(151-153)Gaa>Aaa p.E51K NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 51 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 ACTCCGCCGGGAATTTAAGAA 0.383000 28 53 0 0 0.00106085 0 0 METTL1 4234 broad.mit.edu 37 12 58162854 58162854 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:58162854G>A ENST00000324871.7 - 6 1465 c.756C>T c.(754-756)ttC>ttT p.F252F METTL1_ENST00000257848.7_3'UTR NM_005371.5 NP_005362.3 Q9UBP6 TRMB_HUMAN methyltransferase like 1 252 cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) AGATGGCTGGGAAATTCTTCC 0.537000 18 43 0 0 0.000566183 0 0 KIRREL2 84063 broad.mit.edu 37 19 36349727 36349727 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:36349727C>T ENST00000360202.5 + 4 681 c.483C>T c.(481-483)ttC>ttT p.F161F KIRREL2_ENST00000347900.6_Silent_p.F111F|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.F161F|KIRREL2_ENST00000586102.2_Silent_p.F161F|KIRREL2_ENST00000262625.7_Silent_p.F161F NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 161 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCTGTGGTTCCGAGATGGGG 0.582000 23 74 0 0 0.000720815 0 0 SLC3A1 6519 broad.mit.edu 37 2 44527121 44527121 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:44527121G>A ENST00000260649.6 + 5 979 c.903G>A c.(901-903)cgG>cgA p.R301R SLC3A1_ENST00000409741.1_Silent_p.R301R|SLC3A1_ENST00000409380.1_Silent_p.R23R|SLC3A1_ENST00000409387.1_Silent_p.R301R|SLC3A1_ENST00000409229.3_Silent_p.R301R|SLC3A1_ENST00000410056.3_Silent_p.R301R NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 301 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) AAATTTTACGGTTCTGGCTCA 0.368000 21 147 0 0 0.00047179 0 0 APBB1 322 broad.mit.edu 37 11 6424607 6424607 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:6424607C>T ENST00000389906.2 - 5 1081 c.982G>A c.(982-984)Gag>Aag p.E328K APBB1_ENST00000299402.6_Missense_Mutation_p.E328K|APBB1_ENST00000311051.3_Missense_Mutation_p.E328K|APBB1_ENST00000533407.1_Missense_Mutation_p.E69K|APBB1_ENST00000530885.1_Missense_Mutation_p.E108K NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 328 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) AGTCCCAGCTCCATTGGGGCC 0.567000 7 24 0 0 0.00198382 0 0 NDRG2 57447 broad.mit.edu 37 14 21487861 21487861 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:21487861C>T ENST00000556147.1 - 10 1593 c.653G>A c.(652-654)aGa>aAa p.R218K NDRG2_ENST00000553503.1_Missense_Mutation_p.R204K|NDRG2_ENST00000554143.1_Missense_Mutation_p.R204K|NDRG2_ENST00000397853.3_Missense_Mutation_p.R218K|NDRG2_ENST00000397856.3_Missense_Mutation_p.R204K|NDRG2_ENST00000554104.1_Missense_Mutation_p.R131K|NDRG2_ENST00000397858.1_Missense_Mutation_p.R218K|NDRG2_ENST00000397844.2_Missense_Mutation_p.R204K|NDRG2_ENST00000555158.1_Missense_Mutation_p.R204K|NDRG2_ENST00000397855.3_Missense_Mutation_p.R175K|NDRG2_ENST00000403829.3_Missense_Mutation_p.R214K|NDRG2_ENST00000298684.5_Missense_Mutation_p.R175K|NDRG2_ENST00000397847.2_Missense_Mutation_p.R218K|NDRG2_ENST00000350792.3_Missense_Mutation_p.R204K|NDRG2_ENST00000397851.2_Missense_Mutation_p.R218K|NDRG2_ENST00000298687.5_Missense_Mutation_p.R218K|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000360463.3_Missense_Mutation_p.R204K Q9UN36 NDRG2_HUMAN NDRG family member 2 218 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) AATGATATTTCTGTACTTTTG 0.403000 6 31 0 0 0.00198382 0 0 INO80 54617 broad.mit.edu 37 15 41373247 41373247 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:41373247G>A ENST00000361937.3 - 8 1322 c.898C>T c.(898-900)Cgt>Tgt p.R300C INO80_ENST00000401393.3_Missense_Mutation_p.R300C Q9ULG1 INO80_HUMAN INO80 complex subunit 300 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 AACAGGTTACGAGCTGAAGCT 0.308000 37 181 0 0 0.00195071 0 0 ZNF649 65251 broad.mit.edu 37 19 52400175 52400175 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:52400175G>A ENST00000354957.3 - 3 356 c.72C>T c.(70-72)ttC>ttT p.F24F CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Silent_p.F24F NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CAGGGCTCAGGAACTGCCACT 0.512000 45 94 0 0 0.000781405 0 0 ZNF536 9745 broad.mit.edu 37 19 30936617 30936617 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:30936617C>T ENST00000355537.3 + 2 2295 c.2148C>T c.(2146-2148)caC>caT p.H716H NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 716 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) ACAGCCCGCACCCCTCCTCGC 0.677000 14 19 0 0 0.00074312 0 0 SLC26A9 115019 broad.mit.edu 37 1 205884532 205884532 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:205884532C>T ENST00000367135.3 - 21 2442 c.2328_splice c.e21-1 p.E777_splice SLC26A9_ENST00000367134.2_Splice_Site_p.E777_splice|SLC26A9_ENST00000340781.4_Splice_Site_p.E777_splice NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 777 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) CCGAACATCTCCTGCAGGAAC 0.597000 12 61 0 0 0.00185496 0 0 CACNA1G 8913 broad.mit.edu 37 17 48669145 48669145 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:48669145G>A ENST00000352832.5 + 12 3057 c.2685G>A c.(2683-2685)cgG>cgA p.R895R CACNA1G_ENST00000514717.1_Silent_p.R895R|CACNA1G_ENST00000360761.4_Silent_p.R895R|CACNA1G_ENST00000512389.1_Silent_p.R895R|CACNA1G_ENST00000354983.4_Silent_p.R895R|CACNA1G_ENST00000515765.1_Silent_p.R895R|CACNA1G_ENST00000514181.1_Silent_p.R895R|CACNA1G_ENST00000513964.1_Silent_p.R895R|CACNA1G_ENST00000510366.1_Silent_p.R895R|CACNA1G_ENST00000507609.1_Silent_p.R895R|CACNA1G_ENST00000503485.1_Silent_p.R895R|CACNA1G_ENST00000514079.1_Silent_p.R895R|CACNA1G_ENST00000416767.4_Silent_p.R895R|CACNA1G_ENST00000507336.1_Silent_p.R895R|CACNA1G_ENST00000505165.1_Silent_p.R895R|CACNA1G_ENST00000358244.5_Silent_p.R895R|CACNA1G_ENST00000510115.1_Silent_p.R895R|CACNA1G_ENST00000429973.2_Silent_p.R895R|CACNA1G_ENST00000507510.2_Silent_p.R895R|CACNA1G_ENST00000502264.1_Silent_p.R895R|CACNA1G_ENST00000515411.1_Silent_p.R895R|CACNA1G_ENST00000442258.2_Silent_p.R895R|CACNA1G_ENST00000515165.1_Silent_p.R895R|CACNA1G_ENST00000359106.5_Silent_p.R895R|CACNA1G_ENST00000513689.2_Silent_p.R895R|CACNA1G_ENST00000507896.1_Silent_p.R895R NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 895 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCTCTGAGCGGGATGGGGACA 0.607000 15 42 0 0 0.000958276 0 0 OR56A3 390083 broad.mit.edu 37 11 5968725 5968725 + Missense_Mutation SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:5968725T>A ENST00000329564.6 + 1 156 c.149T>A c.(148-150)cTg>cAg p.L50Q NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCACCCTCCTGATGACCATC 0.607000 14 62 0 0 0.000219431 0 0 SRD5A1 6715 broad.mit.edu 37 5 6652106 6652106 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:6652106C>T ENST00000274192.5 + 2 679 c.445C>T c.(445-447)Ccc>Tcc p.P149S SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000538824.1_Intron|SRD5A1_ENST00000537411.1_3'UTR NM_001047.2 NP_001038.1 P18405 S5A1_HUMAN steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) 149 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Dutasteride(DB01126)|Finasteride(DB01216) GGTAACAGATCCCCGTTTTCT 0.443000 15 86 0 0 0.000566183 0 0 FNDC1 84624 broad.mit.edu 37 6 159653882 159653882 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:159653882G>A ENST00000297267.9 + 11 2538 c.2338G>A c.(2338-2340)Gga>Aga p.G780R FNDC1_ENST00000340366.6_Missense_Mutation_p.G717R NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 780 extracellular region 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) GGTCTCTGAGGGAGCGGAGGC 0.662000 10 19 0 0 0.000673444 0 0 MUC17 140453 broad.mit.edu 37 7 100683264 100683264 + Missense_Mutation SNP G G A rs149735729 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:100683264G>A ENST00000306151.4 + 3 8631 c.8567G>A c.(8566-8568)gGt>gAt p.G2856D NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2856 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) ACTGCTGAAGGTATCGTCGTG 0.507000 76 164 0 0 0.000781405 0 0 RGS7BP 401190 broad.mit.edu 37 5 63802514 63802514 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:63802514C>T ENST00000334025.2 + 1 389 c.63C>T c.(61-63)ttC>ttT p.F21F 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 21 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) CCTCGATCTTCCAGATCAGCA 0.637000 9 36 0 0 0.000673444 0 0 MUC16 94025 broad.mit.edu 37 19 9066073 9066073 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9066073G>A ENST00000397910.4 - 3 21576 c.21373C>T c.(21373-21375)Cct>Tct p.P7125S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7127 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 GAAGTCACAGGAAGAGGAGAG 0.517000 22 68 0 0 0.000878237 0 0 CHD2 1106 broad.mit.edu 37 15 93515552 93515552 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:93515552C>T ENST00000394196.4 + 19 3478 c.2410C>T c.(2410-2412)Cga>Tga p.R804* CHD2_ENST00000557381.1_Nonsense_Mutation_p.R804* NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 804 Helicase C-terminal. 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) GACAAGACTTCGAGAAAGGGG 0.378000 15 53 0 0 0.000219431 0 0 RFX6 222546 broad.mit.edu 37 6 117232120 117232120 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:117232120C>T ENST00000332958.2 + 7 711 c.695C>T c.(694-696)tCg>tTg p.S232L RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 232 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CGTAAATATTCGCTTAGCTCA 0.343000 21 59 0 0 0.00047179 0 0 COL16A1 1307 broad.mit.edu 37 1 32120952 32120952 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:32120952G>A ENST00000373672.3 - 67 4769 c.4253C>T c.(4252-4254)tCg>tTg p.S1418L RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.S1418L|RP11-73M7.6_ENST00000589462.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1418 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) AGGGCTCCCCGAAGGCCCCGG 0.682000 10 39 0 0 0.000673444 0 0 MGAT4C 25834 broad.mit.edu 37 12 86383208 86383208 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:86383208C>T ENST00000604798.1 - 6 1321 c.117G>A c.(115-117)atG>atA p.M39I MGAT4C_ENST00000552808.2_Missense_Mutation_p.M39I|MGAT4C_ENST00000552435.2_Missense_Mutation_p.M39I|MGAT4C_ENST00000393205.2_Missense_Mutation_p.M68I|MGAT4C_ENST00000549405.2_Missense_Mutation_p.M39I|MGAT4C_ENST00000548651.1_Missense_Mutation_p.M39I|MGAT4C_ENST00000332156.1_Missense_Mutation_p.M39I Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 39 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TGTACAAGTTCATAAAAAGGA 0.323000 9 23 0 0 0.000274275 0 0 OR5A1 219982 broad.mit.edu 37 11 59211305 59211305 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:59211305G>A ENST00000302030.2 + 1 689 c.664G>A c.(664-666)Ggt>Agt p.G222S NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 222 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 TATCTCCTATGGTTACATAGT 0.532000 42 68 0 0 0.000509022 0 0 EMR2 30817 broad.mit.edu 37 19 14875257 14875257 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:14875257G>A ENST00000315576.3 - 11 1523 c.1072C>T c.(1072-1074)Cct>Tct p.P358S EMR2_ENST00000601345.1_Missense_Mutation_p.P358S|EMR2_ENST00000392964.3_Missense_Mutation_p.P97S|EMR2_ENST00000596991.2_Missense_Mutation_p.P358S|EMR2_ENST00000594294.1_Missense_Mutation_p.P309S|EMR2_ENST00000594076.1_Missense_Mutation_p.P265S|EMR2_ENST00000353005.1_Missense_Mutation_p.P216S|EMR2_ENST00000595839.1_Missense_Mutation_p.P216S|EMR2_ENST00000392965.3_Missense_Mutation_p.P358S|EMR2_ENST00000392967.2_Missense_Mutation_p.P358S|EMR2_ENST00000353876.1_Missense_Mutation_p.P265S|EMR2_ENST00000346057.1_Missense_Mutation_p.P309S NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 358 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GTGCCTGCAGGATAACTGAAG 0.562000 11 50 0 0 0.000308642 0 0 SERPINB4 6318 broad.mit.edu 37 18 61309039 61309039 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:61309039C>T ENST00000341074.5 - 4 421 c.306G>A c.(304-306)aaG>aaA p.K102K SERPINB4_ENST00000356424.6_Silent_p.K102K 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 TGTTGGCGATCTTCAGCTCAT 0.403000 8 29 0 0 0.000442599 0 0 RXFP1 59350 broad.mit.edu 37 4 159520547 159520547 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:159520547G>A ENST00000307765.5 + 4 607 c.356G>A c.(355-357)cGa>cAa p.R119Q RXFP1_ENST00000448688.2_Missense_Mutation_p.R38Q|RXFP1_ENST00000423548.1_Missense_Mutation_p.R119Q|RXFP1_ENST00000470033.1_Missense_Mutation_p.R86Q|RXFP1_ENST00000343542.5_Missense_Mutation_p.R119Q|RXFP1_ENST00000460056.2_Missense_Mutation_p.R38Q 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 1 119 LRRNT. 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) ACCAATTTACGAGCTGTTCCA 0.423000 7 34 0 0 0.000442599 0 0 OR5H14 403273 broad.mit.edu 37 3 97868484 97868484 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:97868484C>T ENST00000437310.1 + 1 315 c.255C>T c.(253-255)ttC>ttT p.F85F NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGATCAACTTCTTAGCTAAGA 0.393000 52 91 0 0 0.000781405 0 0 ACE2 59272 broad.mit.edu 37 X 15596283 15596283 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:15596283G>A ENST00000427411.1 - 10 1442 c.1226C>T c.(1225-1227)tCa>tTa p.S409L ACE2_ENST00000252519.3_Missense_Mutation_p.S409L NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 409 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) TGCAGAAAGTGACATGATTTC 0.413000 8 17 0 0 0.000673444 0 0 KIRREL2 84063 broad.mit.edu 37 19 36349728 36349728 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:36349728C>T ENST00000360202.5 + 4 682 c.484C>T c.(484-486)Cga>Tga p.R162* KIRREL2_ENST00000347900.6_Nonsense_Mutation_p.R112*|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Nonsense_Mutation_p.R162*|KIRREL2_ENST00000586102.2_Nonsense_Mutation_p.R162*|KIRREL2_ENST00000262625.7_Nonsense_Mutation_p.R162* NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 162 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCTGTGGTTCCGAGATGGGGT 0.587000 23 76 0 0 0.000720815 0 0 CCNA1 8900 broad.mit.edu 37 13 37014135 37014135 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:37014135C>T ENST00000418263.1 + 6 1260 c.910C>T c.(910-912)Cct>Tct p.P304S CCNA1_ENST00000440264.1_Missense_Mutation_p.P261S|CCNA1_ENST00000449823.1_Missense_Mutation_p.P261S|CCNA1_ENST00000255465.4_Missense_Mutation_p.P305S NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 305 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) AGAGATATATCCTCCTGAAGT 0.403000 5 23 0 0 0.00116845 0 0 SPECC1L 23384 broad.mit.edu 37 22 24717903 24717903 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:24717903C>T ENST00000314328.9 + 5 1240 c.955C>T c.(955-957)Cct>Tct p.P319S KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.P319S|SPECC1L_ENST00000437398.1_Missense_Mutation_p.P319S|SPECC1L_ENST00000541492.1_Missense_Mutation_p.P319S|SPECC1L_ENST00000416735.1_Intron NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145.3 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 319 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 AGGCTCTGCCCCTGGCTCAGT 0.488000 23 74 0 0 0.000720815 0 0 DCC 1630 broad.mit.edu 37 18 51025778 51025778 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:51025778C>T ENST00000442544.2 + 27 4625 c.4009C>T c.(4009-4011)Cga>Tga p.R1337* DCC_ENST00000581580.1_Nonsense_Mutation_p.R970*|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1337 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) AGCTTGTGTTCGACCAACTCA 0.532000 12 67 0 0 0.00185496 0 0 CACNG2 10369 broad.mit.edu 37 22 36962500 36962500 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:36962500C>T ENST00000300105.6 - 3 1317 c.336G>A c.(334-336)gtG>gtA p.V112V NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 112 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 AAAGCAGAATCACACTCAGGA 0.552000 23 57 0 0 0.00229938 0 0 FOXA2 3170 broad.mit.edu 37 20 22563421 22563421 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:22563421G>A ENST00000419308.2 - 2 643 c.441C>T c.(439-441)gaC>gaT p.D147D FOXA2_ENST00000377115.4_Silent_p.D147D|FOXA2_ENST00000319993.4_Silent_p.D153D NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 147 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) AGGTCTTGGGGTCGCGGGCGC 0.677000 29 100 0 0 0.000953801 0 0 HCAR1 27198 broad.mit.edu 37 12 123214230 123214230 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:123214230G>A ENST00000432564.1 - 1 899 c.657C>T c.(655-657)acC>acT p.T219T HCAR1_ENST00000436083.2_Silent_p.T219T|HCAR1_ENST00000356987.2_Silent_p.T219T NM_032554.3 NP_115943.1 Q9BXC0 HCAR1_HUMAN hydroxycarboxylic acid receptor 1 219 response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 10 TGATGAACCGGGTCGCCTTCT 0.557000 17 60 0 0 0.000720815 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354776 45354776 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:45354776C>T ENST00000359271.2 + 2 1351 c.1101C>T c.(1099-1101)atC>atT p.I367I NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 367 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GGGAGCCAATCTTGTCCACTG 0.627000 19 52 0 0 0.00121646 0 0 POLR3E 55718 broad.mit.edu 37 16 22320279 22320279 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:22320279C>T ENST00000299853.5 + 5 366 c.199C>T c.(199-201)Ccc>Tcc p.P67S POLR3E_ENST00000564209.1_Missense_Mutation_p.P67S|POLR3E_ENST00000359210.4_Missense_Mutation_p.P67S|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000418581.2_Missense_Mutation_p.P31S NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 67 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) CACCCTGAACCCCAACTATTG 0.617000 24 53 0 0 0.00127121 0 0 MCEE 84693 broad.mit.edu 37 2 71357326 71357326 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:71357326T>C ENST00000244217.5 - 1 41 c.24A>G c.(22-24)gcA>gcG p.A8A NM_032601.3 NP_115990.3 Q96PE7 MCEE_HUMAN methylmalonyl CoA epimerase 8 fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process mitochondrial matrix methylmalonyl-CoA epimerase activity kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 CATTCGCGGCTGCAGCCTTCA 0.697000 6 17 0 0 0.00198382 0 0 DNAH7 56171 broad.mit.edu 37 2 196749422 196749422 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:196749422G>A ENST00000312428.6 - 35 5750 c.5650C>T c.(5650-5652)Cga>Tga p.R1884* NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1884 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 TTTCGAGTTCGATCTGAAATT 0.358000 28 60 0 0 0.000878237 0 0 NRAP 4892 broad.mit.edu 37 10 115372085 115372085 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:115372085G>A ENST00000369358.4 - 30 3674 c.3430C>T c.(3430-3432)Cag>Tag p.Q1144* NRAP_ENST00000360478.3_Nonsense_Mutation_p.Q1101*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.Q1109*|NRAP_ENST00000359988.3_Nonsense_Mutation_p.Q1136* Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1136 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TTGTAGTCCTGATTGCTGGCC 0.532000 11 51 0 0 0.000673444 0 0 CATSPERG 57828 broad.mit.edu 37 19 38848958 38848958 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:38848958C>T ENST00000409235.3 + 12 1471 c.1356C>T c.(1354-1356)ttC>ttT p.F452F CATSPERG_ENST00000215069.4_Silent_p.F445F|CATSPERG_ENST00000410018.1_Silent_p.F412F NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 452 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 TCCCAGAATTCATCCCTGAAG 0.562000 23 44 0 0 0.000375601 0 0 CSF3R 1441 broad.mit.edu 37 1 36937222 36937222 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:36937222C>T ENST00000373103.1 - 10 1644 c.1097G>A c.(1096-1098)gGa>gAa p.G366E CSF3R_ENST00000338937.5_Missense_Mutation_p.G366E|CSF3R_ENST00000331941.5_Missense_Mutation_p.G366E|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.G366E|CSF3R_ENST00000418048.2_Missense_Mutation_p.G366E|CSF3R_ENST00000373104.1_Missense_Mutation_p.G366E|CSF3R_ENST00000440588.2_Missense_Mutation_p.G366E|CSF3R_ENST00000373106.1_Missense_Mutation_p.G366E NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 366 Fibronectin type-III 3. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTGGATCCGTCCGCTGTCTTC 0.597000 40 123 0 0 0.00222228 0 0 ESYT3 83850 broad.mit.edu 37 3 138183346 138183346 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:138183346G>A ENST00000389567.4 + 9 1261 c.1075G>A c.(1075-1077)Gaa>Aaa p.E359K NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 359 C2 1. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CACCTGGAACGAAGTGTTTGA 0.582000 36 190 0 0 0.00111076 0 0 CEP164 22897 broad.mit.edu 37 11 117280572 117280572 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:117280572C>T ENST00000278935.3 + 30 4134 c.3987C>T c.(3985-3987)ccC>ccT p.P1329P CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1329 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus 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) CTGCTACACCCACGTCCACCC 0.637000 34 82 0 0 0.000953801 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412316 105412316 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:105412316G>A ENST00000333244.5 - 7 9591 c.9472C>T c.(9472-9474)Cca>Tca p.P3158S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3158 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GACTTGCCTGGGGCAGACACC 0.587000 70 129 0 0 0.000781405 0 0 PLD5 200150 broad.mit.edu 37 1 242271057 242271057 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:242271057C>T ENST00000442594.2 - 9 1388 c.879G>A c.(877-879)tgG>tgA p.W293* PLD5_ENST00000536534.1_Nonsense_Mutation_p.W385*|PLD5_ENST00000427495.1_Nonsense_Mutation_p.W323* NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 385 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) CAGTTTCCTTCCAGAAGCTTA 0.378000 41 109 0 0 0.00128727 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47626796 47626796 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:47626796C>T ENST00000371917.4 + 27 3612 c.3612C>T c.(3610-3612)atC>atT p.I1204I NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1204 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) ACATGGCGATCCGCTGCATTG 0.542000 31 79 0 0 0.00178596 0 0 ZNF862 643641 broad.mit.edu 37 7 149558181 149558181 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:149558181C>T ENST00000223210.4 + 7 2177 c.1932C>T c.(1930-1932)atC>atT p.I644I NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 644 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 GGATTTACATCCGCTACTTCA 0.587000 11 9 0 0 0.000673444 0 0 DGKI 9162 broad.mit.edu 37 7 137374695 137374695 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:137374695C>T ENST00000424189.2 - 2 684 c.455G>A c.(454-456)aGc>aAc p.S152N DGKI_ENST00000288490.5_Missense_Mutation_p.S152N|DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.S152N O75912 DGKI_HUMAN diacylglycerol kinase, iota 152 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 CACAGGAAGGCTGAGGGGATG 0.483000 8 62 0 0 0.000978159 0 0 SLC9A4 389015 broad.mit.edu 37 2 103136335 103136335 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:103136335G>A ENST00000295269.4 + 9 2196 c.1739G>A c.(1738-1740)gGa>gAa p.G580E NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 580 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 AGGATACAAGGAATCAAAAGA 0.453000 10 30 0 0 0.00136819 0 0 PARVA 55742 broad.mit.edu 37 11 12540005 12540005 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:12540005C>T ENST00000334956.8 + 12 1446 c.1103C>T c.(1102-1104)tCc>tTc p.S368F PARVA_ENST00000539723.1_Missense_Mutation_p.S328F|PARVA_ENST00000550549.1_Missense_Mutation_p.S328F NM_018222.4 NP_060692.2 Q9NVD7 PARVA_HUMAN parvin, alpha 328 CH 2. cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) TTGAATGTCTCCTTTGCCTTT 0.542000 4 30 0 0 0.00116845 0 0 TGM1 7051 broad.mit.edu 37 14 24728336 24728336 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:24728336C>T ENST00000206765.6 - 7 1227 c.1104G>A c.(1102-1104)acG>acA p.T368T TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 368 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) CGGAATATCCCGTGCGTAGGT 0.612000 5 18 0 0 0.00116845 0 0 RBBP6 5930 broad.mit.edu 37 16 24580206 24580206 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:24580206C>T ENST00000319715.4 + 17 2627 c.2195C>T c.(2194-2196)cCa>cTa p.P732L RBBP6_ENST00000348022.2_Missense_Mutation_p.P698L|RBBP6_ENST00000381039.3_Intron NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 732 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CGGTCACCTCCATACCCCAGA 0.473000 15 44 0 0 0.000566183 0 0 PER1 5187 broad.mit.edu 37 17 8054013 8054013 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:8054013G>A ENST00000317276.4 - 2 249 c.12C>T c.(10-12)ccC>ccT p.P4P PER1_ENST00000354903.5_Intron|PER1_ENST00000581082.1_Silent_p.P4P NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 4 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCCCTTCTAGGGGGCCACTCA 0.667000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 7 16 0 0 0.000157383 0 0 MYO3A 53904 broad.mit.edu 37 10 26500800 26500800 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:26500800G>A ENST00000265944.5 + 35 4925 c.4759G>A c.(4759-4761)Gag>Aag p.E1587K MYO3A_ENST00000543632.1_Missense_Mutation_p.G602E NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1587 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 CCCCGAGAAGGAGGAGGAGAG 0.642000 10 34 0 0 0.000978159 0 0 MYOT 9499 broad.mit.edu 37 5 137206604 137206604 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:137206604C>T ENST00000239926.4 + 2 638 c.264C>T c.(262-264)acC>acT p.T88T MYOT_ENST00000421631.2_Intron|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_5'UTR|RP11-381K20.2_ENST00000514616.1_RNA NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 88 Necessary for interaction with ACTN1. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTACAACCACCTATAACCAGT 0.507000 5 21 0 0 0.000602214 0 0 C16orf82 162083 broad.mit.edu 37 16 27078289 27078289 + RNA SNP T T A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:27078289T>A ENST00000505035.1 + 0 262 RP11-673P17.2_ENST00000565783.1_RNA Q7Z2V1 TNT_HUMAN ACAGCCAACATTCAGAGGCCT 0.547000 10 46 0 0 0.00136819 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962622 73962622 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:73962622C>T ENST00000373468.1 - 3 2421 c.1770G>A c.(1768-1770)aaG>aaA p.K590K KIAA2022_ENST00000055682.5_Silent_p.K590K Q5QGS0 K2022_HUMAN KIAA2022 590 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 p.K590N(1) 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 GCTTCTTCTTCTTTTGCCAGA 0.458000 5 10 0 0 0.000602214 0 0 GLYAT 10249 broad.mit.edu 37 11 58478127 58478127 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:58478127C>T ENST00000344743.3 - 5 565 c.424G>A c.(424-426)Gaa>Aaa p.E142K GLYAT_ENST00000529732.1_Missense_Mutation_p.E142K|GLYAT_ENST00000278400.3_Missense_Mutation_p.E142K NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 142 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GGAGTCAGTTCCTTGGCTGTT 0.428000 32 59 0 0 0.0024448 0 0 DSG4 147409 broad.mit.edu 37 18 28968349 28968349 + Missense_Mutation SNP C C T rs36040686 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:28968349C>T ENST00000359747.4 + 4 265 c.236C>T c.(235-237)tCg>tTg p.S79L RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S79L NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 79 Cadherin 1. 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) GACTGCGAATCGAACCAGAAG 0.418000 6 17 0 0 0.00116845 0 0 TPH1 7166 broad.mit.edu 37 11 18047205 18047205 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:18047205C>T ENST00000250018.2 - 7 1409 c.847G>A c.(847-849)Gaa>Aaa p.E283K TPH1_ENST00000341556.2_Missense_Mutation_p.E283K NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 283 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) AAACTAGGTTCAGCCAAAAGC 0.438000 21 44 0 0 0.00229938 0 0 CDHR4 389118 broad.mit.edu 37 3 49836345 49836345 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:49836345C>T ENST00000412678.2 - 4 417 c.409G>A c.(409-411)Gaa>Aaa p.E137K CDHR4_ENST00000343366.4_Missense_Mutation_p.G162E|CDHR4_ENST00000487256.1_Missense_Mutation_p.E137K NM_001007540.2 NP_001007541.2 A6H8M9 CDHR4_HUMAN cadherin-related family member 4 137 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3) 11 TGAATCATTTCCCCAGCTGGC 0.637000 5 20 0 0 0.000602214 0 0 MYH7 4625 broad.mit.edu 37 14 23886362 23886362 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:23886362C>T ENST00000355349.3 - 32 4681 c.4519_splice c.e32+1 p.E1507_splice NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1507 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) CCCAGCACACCCTGCAGGTTT 0.602000 29 142 0 0 0.000814825 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20592019 20592019 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:20592019C>T ENST00000202677.6 - 14 1882 c.1740G>A c.(1738-1740)aaG>aaA p.K580K NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 580 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 TATCCTTTGGCTTCTGCATGA 0.393000 100 286 0 0 0.000781405 0 0 TRPV5 56302 broad.mit.edu 37 7 142605774 142605774 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:142605774C>T ENST00000265310.1 - 15 2444 c.2096G>A c.(2095-2097)cGa>cAa p.R699Q NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 699 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) CTCCCAGCCTCGGTGACTGCT 0.557000 9 46 0 0 0.000442599 0 0 PLVAP 83483 broad.mit.edu 37 19 17476443 17476443 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:17476443G>A ENST00000252590.4 - 3 892 c.831C>T c.(829-831)agC>agT p.S277S NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 277 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGCTCATGAGGCTGGGCATGT 0.632000 21 57 0 0 0.00188189 0 0 MYO3B 140469 broad.mit.edu 37 2 171248918 171248918 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:171248918G>A ENST00000334231.6 + 16 1731 c.1731G>A c.(1729-1731)gtG>gtA p.V577V MYO3B_ENST00000408978.4_Silent_p.V568V|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.V568V Q8WXR4 MYO3B_HUMAN myosin IIIB 568 Myosin head-like. 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 CTGGAAGGGTGATGCACGACA 0.413000 11 37 0 0 0.00185496 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232575022 232575022 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:232575022G>A ENST00000366630.1 - 14 4221 c.3863C>T c.(3862-3864)tCc>tTc p.S1288F SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S362F|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1288F Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1288 S -> P (in Ref. 2; BAB14273). regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GTGGATCAGGGACCTGCTGCC 0.647000 8 65 0 0 0.000274275 0 0 TRIM58 25893 broad.mit.edu 37 1 248020688 248020688 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:248020688C>T ENST00000366481.3 + 1 188 c.140C>T c.(139-141)tCg>tTg p.S47L NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 47 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) TGCGAGAAGTCGGACGGCGCG 0.716000 5 29 0 0 0.00116845 0 0 CSMD2 114784 broad.mit.edu 37 1 34238348 34238348 + Silent SNP G G A rs144733811 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:34238348G>A ENST00000373381.4 - 13 1844 c.1668C>T c.(1666-1668)atC>atT p.I556I CSMD2_ENST00000338325.1_Silent_p.I164I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 516 Sushi 3. 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) TGCCCTGCTCGATCTCTGAAA 0.527000 9 49 0 0 0.000274275 0 0 AMPD1 270 broad.mit.edu 37 1 115220613 115220613 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:115220613G>A ENST00000369538.3 - 8 1276 c.1229C>T c.(1228-1230)cCt>cTt p.P410L AMPD1_ENST00000520113.2_Missense_Mutation_p.P414L|AMPD1_ENST00000353928.6_Missense_Mutation_p.P381L NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 381 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) TGCTCCTACAGGATTATATTT 0.428000 24 40 0 0 0.000375601 0 0 TSC22D2 9819 broad.mit.edu 37 3 150176404 150176404 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:150176404C>T ENST00000361875.2 + 4 3340 c.2324C>T c.(2323-2325)cCg>cTg p.P775L TSC22D2_ENST00000361136.2_Missense_Mutation_p.P751L NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 775 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CCACAGCAGCCGAATGTCTCC 0.473000 7 44 0 0 0.000157383 0 0 TEX11 56159 broad.mit.edu 37 X 69774649 69774649 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:69774649C>T ENST00000395889.2 - 27 2342 c.2185_splice c.e27-1 p.G729_splice TEX11_ENST00000374333.2_Splice_Site_p.G714_splice|TEX11_ENST00000344304.3_Splice_Site_p.G729_splice|TEX11_ENST00000374320.2_Splice_Site_p.G404_splice NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 729 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TTGAGAAGGTCCCTAAGAAAG 0.348000 11 15 0 0 0.000978159 0 0 MUC15 143662 broad.mit.edu 37 11 26587086 26587086 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:26587086G>A ENST00000436318.2 - 2 534 c.401C>T c.(400-402)tCc>tTc p.S134F ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.S134F|MUC15_ENST00000281268.8_Missense_Mutation_p.S134F|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.S134F|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.S107F Q8N387 MUC15_HUMAN mucin 15, cell surface associated 107 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 AGGGCTTGTGGAAATGGTAGA 0.448000 9 24 0 0 0.000274275 0 0 AGBL1 123624 broad.mit.edu 37 15 86808009 86808009 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:86808009G>A ENST00000441037.2 + 10 1564 c.1469G>A c.(1468-1470)tGg>tAg p.W490* AGBL1_ENST00000421325.2_Nonsense_Mutation_p.W490*|AGBL1_ENST00000389298.3_Nonsense_Mutation_p.W221* NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 490 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 CCTGATGTCTGGGGACACTGT 0.507000 11 60 0 0 0.000978159 0 0 KLHL30 377007 broad.mit.edu 37 2 239049740 239049740 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:239049740C>T ENST00000409223.1 + 2 452 c.345C>T c.(343-345)ttC>ttT p.F115F KLHL30_ENST00000305959.4_Silent_p.F97F Q0D2K2 KLH30_HUMAN kelch-like family member 30 115 lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GCCTGCACTTCCCCTCGGTGC 0.662000 25 54 0 0 0.00047179 0 0 NBPF10 100132406 broad.mit.edu 37 1 145299840 145299840 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:145299840C>T ENST00000342960.5 + 6 924 c.889C>T c.(889-891)Ccc>Tcc p.P297S NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Missense_Mutation_p.P26S|RP11-458D21.5_ENST00000468030.1_3'UTR 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) GAAATTGCGCCCCCAGCTGGC 0.483000 19 506 0 0 0.00106085 0 0 WDR72 256764 broad.mit.edu 37 15 53997325 53997325 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:53997325C>T ENST00000396328.1 - 11 1447 c.1208G>A c.(1207-1209)gGa>gAa p.G403E WDR72_ENST00000360509.5_Missense_Mutation_p.G403E|WDR72_ENST00000559418.1_Missense_Mutation_p.G413E|WDR72_ENST00000557913.1_Missense_Mutation_p.G400E NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 403 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) TACAGCAGTTCCTGCCCCATC 0.388000 21 112 0 0 0.000375601 0 0 KCNH2 3757 broad.mit.edu 37 7 150649632 150649632 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:150649632C>T ENST00000392968.2 - 4 2270 c.1150G>A c.(1150-1152)Gag>Aag p.E384K KCNH2_ENST00000330883.4_Missense_Mutation_p.E140K|KCNH2_ENST00000430723.3_Missense_Mutation_p.E480K|KCNH2_ENST00000262186.5_Missense_Mutation_p.E480K Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 480 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) ACCACCTCCTCGTTGGCATTG 0.597000 20 88 0 0 0.000720815 0 0 LCK 3932 broad.mit.edu 37 1 32745728 32745728 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:32745728G>A ENST00000333070.4 + 12 1434 c.1334G>A c.(1333-1335)gGg>gAg p.G445E LCK_ENST00000373564.3_Missense_Mutation_p.G422E|LCK_ENST00000336890.5_Missense_Mutation_p.G415E NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 415 Protein kinase. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) ATTAACTACGGGACATTCACC 0.557000 T TRB@ T-ALL 21 38 0 0 0.00229938 0 0 PCLO 27445 broad.mit.edu 37 7 82586143 82586143 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:82586143C>T ENST00000423517.2 - 5 4463 c.4126G>A c.(4126-4128)Gaa>Aaa p.E1376K PCLO_ENST00000333891.8_Missense_Mutation_p.E1376K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1307 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 CTTGGAATTTCACCAAGTGAG 0.443000 17 35 0 0 0.000422831 0 0 FAM213A 84293 broad.mit.edu 37 10 82180315 82180315 + Missense_Mutation SNP T T G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:82180315T>G ENST00000372181.1 + 1 562 c.92T>G c.(91-93)cTt>cGt p.L31R FAM213A_ENST00000372185.1_Missense_Mutation_p.L20R|FAM213A_ENST00000372187.5_Missense_Mutation_p.L31R|FAM213A_ENST00000372188.1_Missense_Mutation_p.L31R NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 31 extracellular region GCATTGCTGCTTGCCAACACA 0.552000 10 46 0 0 0.000673444 0 0 FAT3 120114 broad.mit.edu 37 11 92577351 92577351 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:92577351C>T ENST00000298047.6 + 18 10835 c.10818C>T c.(10816-10818)atC>atT p.I3606I FAT3_ENST00000409404.2_Silent_p.I3606I|FAT3_ENST00000525166.1_Silent_p.I3456I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3606 Cadherin 33. 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) GGAAAATCATCGCCCTGGGAG 0.488000 TCGA Ovarian(4;0.039) 178 259 0 0 0.000781405 0 0 RPRD2 23248 broad.mit.edu 37 1 150429903 150429903 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:150429903C>T ENST00000401000.4 + 7 997 c.932C>T c.(931-933)cCt>cTt p.P311L RPRD2_ENST00000539519.1_Missense_Mutation_p.P311L|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P337L Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 337 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TCTGAGTCTCCTTTTCAGGGA 0.502000 53 140 0 0 0.000781405 0 0 UBN1 29855 broad.mit.edu 37 16 4924587 4924587 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:4924587C>T ENST00000396658.4 + 14 2879 c.2176C>T c.(2176-2178)Cca>Tca p.P726S UBN1_ENST00000262376.6_Missense_Mutation_p.P726S|UBN1_ENST00000545171.1_Missense_Mutation_p.P726S|UBN1_ENST00000590769.1_Missense_Mutation_p.P726S NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 726 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 TCCTTCTGCTCCACCACCAGC 0.502000 80 169 0 0 0.000781405 0 0 CCDC83 220047 broad.mit.edu 37 11 85593684 85593684 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:85593684G>A ENST00000280245.4 + 4 821 c.309G>A c.(307-309)tgG>tgA p.W103* CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Nonsense_Mutation_p.W60*|CCDC83_ENST00000342404.3_Nonsense_Mutation_p.W103* NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 103 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AGGAAAAATGGAAGTTTGAAA 0.383000 27 38 0 0 0.00127121 0 0 FAP 2191 broad.mit.edu 37 2 163031376 163031376 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:163031376C>T ENST00000188790.4 - 22 2177 c.e22+1 FAP_ENST00000443424.1_Splice_Site NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 TGTTTCCATACCGTAATATTC 0.398000 9 26 0 0 0.000442599 0 0 FLNB 2317 broad.mit.edu 37 3 58107129 58107129 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:58107129C>T ENST00000357272.4 + 20 3190 c.3025C>T c.(3025-3027)Cgg>Tgg p.R1009W FLNB_ENST00000419752.2_Missense_Mutation_p.R840W|FLNB_ENST00000429972.2_Missense_Mutation_p.R1009W|FLNB_ENST00000348383.5_Missense_Mutation_p.R1009W|FLNB_ENST00000493452.1_Missense_Mutation_p.R840W|FLNB_ENST00000490882.1_Missense_Mutation_p.R1009W|FLNB_ENST00000358537.3_Missense_Mutation_p.R1009W|FLNB_ENST00000295956.4_Missense_Mutation_p.R1009W O75369 FLNB_HUMAN filamin B, beta 1009 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GTTCATCCCTCGGGAGGAGGG 0.622000 23 93 0 0 0.00188189 0 0 AIRE 326 broad.mit.edu 37 21 45706459 45706459 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:45706459A>T ENST00000291582.5 + 2 279 c.152A>T c.(151-153)gAa>gTa p.E51V NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 51 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) CATCTGAAGGAAAAGGAGGGC 0.632000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 17 44 0 0 0.00074312 0 0 NHLRC2 374354 broad.mit.edu 37 10 115664714 115664714 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:115664714C>T ENST00000369301.3 + 10 2055 c.1843C>T c.(1843-1845)Cag>Tag p.Q615* NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 615 cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) CCAGACTCTTCAGTTCAAACT 0.458000 12 55 0 0 0.00185496 0 0 CCNA1 8900 broad.mit.edu 37 13 37011908 37011908 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:37011908G>A ENST00000418263.1 + 3 787 c.437G>A c.(436-438)aGa>aAa p.R146K CCNA1_ENST00000440264.1_Missense_Mutation_p.R103K|CCNA1_ENST00000449823.1_Missense_Mutation_p.R103K|CCNA1_ENST00000255465.4_Missense_Mutation_p.R147K NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 147 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CAGGGGGACAGAGACAGCTGC 0.537000 9 35 0 0 0.000274275 0 0 RNF165 494470 broad.mit.edu 37 18 44027629 44027629 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:44027629C>T ENST00000269439.7 + 4 640 c.589C>T c.(589-591)Ccc>Tcc p.P197S RNF165_ENST00000543885.1_Missense_Mutation_p.P5S NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 197 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) GCACCACTTTCCCAGAAACTC 0.567000 31 84 0 0 0.000953801 0 0 SVEP1 79987 broad.mit.edu 37 9 113173652 113173652 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:113173652C>A ENST00000401783.2 - 37 6675 c.6339G>T c.(6337-6339)atG>atT p.M2113I SVEP1_ENST00000297826.5_Missense_Mutation_p.M39I|SVEP1_ENST00000374469.1_Missense_Mutation_p.M2090I NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2113 Sushi 12. 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 CAAAGCCTTCCATGCATTTAA 0.473000 4 19 0.00116845 0.00515798 0.00116845 1 0 TG 7038 broad.mit.edu 37 8 134146970 134146970 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:134146970G>A ENST00000220616.4 + 48 8279 c.8239G>A c.(8239-8241)Gct>Act p.A2747T TG_ENST00000519543.1_Missense_Mutation_p.A880T|TG_ENST00000377869.1_Missense_Mutation_p.A2690T|TG_ENST00000542445.1_Missense_Mutation_p.A1117T NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2747 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGAGTTGACGGCTGGATCTGG 0.557000 5 26 0 0 0.000602214 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399463 89399463 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:89399463G>A ENST00000479981.1 - 0 266 ACTTTGATGGGACCCCACTTT 0.483000 36 66 0 0 0.00148497 0 0 MYO6 4646 broad.mit.edu 37 6 76558187 76558187 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:76558187G>A ENST00000369981.3 + 11 1296 c.1017G>A c.(1015-1017)cgG>cgA p.R339R MYO6_ENST00000369985.4_Silent_p.R339R|MYO6_ENST00000369975.1_Silent_p.R339R|MYO6_ENST00000369977.3_Silent_p.R339R Q9UM54 MYO6_HUMAN myosin VI 339 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.R339R(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) ATCTCTTCCGGGTAGTAGCTG 0.373000 25 69 0 0 0.000720815 0 0 RBM24 221662 broad.mit.edu 37 6 17284914 17284914 + Missense_Mutation SNP C C T rs143113042 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:17284914C>T ENST00000379052.5 + 3 555 c.319C>T c.(319-321)Cat>Tat p.H107Y RBM24_ENST00000425446.2_Missense_Mutation_p.H49Y|RBM24_ENST00000318204.5_Missense_Mutation_p.H62Y NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 107 cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) TCAACAACTTCATCCAGCCCT 0.333000 75 165 0 0 0.000781405 0 0 POPDC2 64091 broad.mit.edu 37 3 119378958 119378958 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:119378958G>A ENST00000493094.1 - 1 772 c.313C>T c.(313-315)Cct>Tct p.P105S POPDC2_ENST00000264231.3_Missense_Mutation_p.P105S|POPDC2_ENST00000538678.1_Missense_Mutation_p.P105S|POPDC2_ENST00000468801.1_Missense_Mutation_p.P105S|POPDC2_ENST00000474523.1_Intron Q9HBU9 POPD2_HUMAN popeye domain containing 2 105 integral to membrane breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.242) AACTCCTCAGGGAGGGTGTCC 0.582000 21 70 0 0 0.00188189 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112918706 112918706 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:112918706C>T ENST00000374530.3 + 9 3283 c.3103C>T c.(3103-3105)Ctg>Ttg p.L1035L AKAP2_ENST00000259318.7_Silent_p.L804L|AKAP2_ENST00000434623.2_Silent_p.L893L|AKAP2_ENST00000482335.1_Intron|PALM2-AKAP2_ENST00000302798.7_Silent_p.L1035L|AKAP2_ENST00000555236.1_Silent_p.L1035L|AKAP2_ENST00000374525.1_Silent_p.L893L|AKAP2_ENST00000510514.5_Silent_p.L1035L NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 804 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GCCCAAGAATCTGATGCAGAC 0.512000 19 37 0 0 0.00152264 0 0 PCDH18 54510 broad.mit.edu 37 4 138452408 138452408 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:138452408C>T ENST00000344876.4 - 1 1221 c.835G>A c.(835-837)Ggg>Agg p.G279R PCDH18_ENST00000412923.2_Missense_Mutation_p.G279R|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.G59R NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 279 Cadherin 3. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ACAATTTTCCCATTAGCGCCC 0.388000 9 41 0 0 0.000673444 0 0 CLMN 79789 broad.mit.edu 37 14 95669315 95669315 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:95669315G>A ENST00000298912.4 - 9 2484 c.2371C>T c.(2371-2373)Ccc>Tcc p.P791S NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 791 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) CTGGCACTGGGGAGGCTCTCT 0.642000 4 17 0 0 0.00198382 0 0 TNFAIP8L2 79626 broad.mit.edu 37 1 151131671 151131671 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:151131671G>A ENST00000368910.3 + 2 624 c.498G>A c.(496-498)caG>caA p.Q166Q NM_024575.4 NP_078851.2 Q6P589 TP8L2_HUMAN tumor necrosis factor, alpha-induced protein 8-like 2 166 innate immune response lung(1)|skin(2) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACTTCACTCAGCACCTTGGCA 0.562000 16 37 0 0 0.00152264 0 0 MYH1 4619 broad.mit.edu 37 17 10400655 10400655 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:10400655C>T ENST00000226207.5 - 32 4574 c.4480G>A c.(4480-4482)Gaa>Aaa p.E1494K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1494 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 TCTAAAGATTCCTCATAAGCA 0.343000 32 52 0 0 0.000692331 0 0 RGS7 6000 broad.mit.edu 37 1 241262042 241262042 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:241262042C>T ENST00000366565.1 - 3 480 c.99G>A c.(97-99)cgG>cgA p.R33R RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000331110.7_Silent_p.R7R|RGS7_ENST00000366562.4_Silent_p.R33R|RGS7_ENST00000366563.1_Silent_p.R33R|RGS7_ENST00000401882.1_Silent_p.R33R|RGS7_ENST00000407727.1_Silent_p.R33R|RGS7_ENST00000366564.1_Silent_p.R33R|RGS7_ENST00000348120.2_Silent_p.R33R NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 33 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) CATCTTGCATCCGTGCTATGA 0.338000 19 42 0 0 0.00188189 0 0 CPS1 1373 broad.mit.edu 37 2 211447358 211447358 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:211447358G>A ENST00000233072.5 + 6 742 c.546G>A c.(544-546)aaG>aaA p.K182K CPS1_ENST00000430249.2_Silent_p.K188K NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 182 Anthranilate phosphoribosyltransferase homolog. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGCTTGGGAAGATTGAATTTG 0.363000 20 69 0 0 0.00121646 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204228606 204228606 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:204228606C>T ENST00000272203.3 - 8 1103 c.787G>A c.(787-789)Ggg>Agg p.G263R PLEKHA6_ENST00000414478.1_Missense_Mutation_p.G283R NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 263 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GGCTGTTCCCCACCCCCTGGC 0.672000 14 26 0 0 0.000219431 0 0 NCKAP5 344148 broad.mit.edu 37 2 133543266 133543266 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:133543266C>T ENST00000409261.1 - 14 1491 c.1118G>A c.(1117-1119)aGg>aAg p.R373K NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R373K NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 373 Ser-rich. 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 AATACTTAGCCTTTTATCCCA 0.378000 14 26 0 0 0.000422831 0 0 KCNQ1 3784 broad.mit.edu 37 11 2549237 2549237 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:2549237C>T ENST00000155840.5 + 2 574 c.466C>T c.(466-468)Ctc>Ttc p.L156F KCNQ1_ENST00000335475.5_Missense_Mutation_p.L29F NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 156 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) CACGGGGACTCTCTTCTGGAT 0.617000 91 459 0 0 0.000781405 0 0 SALL3 27164 broad.mit.edu 37 18 76753443 76753443 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:76753443C>T ENST00000536229.3 + 1 1762 c.1053C>T c.(1051-1053)gtC>gtT p.V351V SALL3_ENST00000537592.2_Silent_p.V484V|SALL3_ENST00000575389.2_Silent_p.V484V Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 484 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) CTTACCCGGTCCCCGAGTACC 0.627000 7 19 0 0 0.000673444 0 0 ITGA10 8515 broad.mit.edu 37 1 145533075 145533075 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:145533075G>A ENST00000369304.3 + 11 1345 c.1170G>A c.(1168-1170)atG>atA p.M390I ITGA10_ENST00000539363.1_Missense_Mutation_p.M247I|ITGA10_ENST00000538811.1_Missense_Mutation_p.M259I NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 390 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTTTTGGGATGGTGGGGGCCT 0.532000 20 53 0 0 0.00229938 0 0 PLCH1 23007 broad.mit.edu 37 3 155311961 155311961 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:155311961G>A ENST00000460012.1 - 4 506 c.149C>T c.(148-150)tCc>tTc p.S50F PLCH1_ENST00000494598.1_Missense_Mutation_p.S68F|PLCH1_ENST00000447496.2_Missense_Mutation_p.S68F|PLCH1_ENST00000334686.6_Missense_Mutation_p.S50F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S50F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S68F Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 68 PH. 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) TTTGTAAATGGAATCAATAAG 0.423000 14 59 0 0 0.000308642 0 0 FAM19A1 407738 broad.mit.edu 37 3 68055884 68055884 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:68055884C>A ENST00000478136.1 + 2 605 c.115C>A c.(115-117)Cca>Aca p.P39T FAM19A1_ENST00000496687.1_Missense_Mutation_p.P39T NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 39 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) CCTGCACAGACCAGGTAAGTC 0.493000 27 71 4.7796e-09 2.13743e-08 0.000720815 1 0 CA10 56934 broad.mit.edu 37 17 50008359 50008359 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:50008359C>T ENST00000451037.2 - 3 1210 c.270G>A c.(268-270)ggG>ggA p.G90G CA10_ENST00000570565.1_Silent_p.G15G|CA10_ENST00000340813.6_Silent_p.G96G|CA10_ENST00000285273.4_Silent_p.G90G|CA10_ENST00000442502.2_Silent_p.G90G NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 90 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) CCTTCCTGCCCCCCGTGTTGA 0.498000 44 85 0 0 0.000781405 0 0 TMEM170A 124491 broad.mit.edu 37 16 75481529 75481529 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:75481529G>A ENST00000357613.4 - 3 381 c.293C>T c.(292-294)gCc>gTc p.A98V TMEM170A_ENST00000566980.1_Missense_Mutation_p.A53V|TMEM170A_ENST00000569540.1_Missense_Mutation_p.A83V|TMEM170A_ENST00000567796.1_Missense_Mutation_p.A76V|RP11-77K12.1_ENST00000567194.1_Intron|RP11-77K12.1_ENST00000561887.1_Intron|TMEM170A_ENST00000561878.1_Missense_Mutation_p.A121V Q8WVE7 T170A_HUMAN transmembrane protein 170A 121 integral to membrane endometrium(1) 1 CAGTGTGAGGGCTTCAAATGG 0.408000 29 50 0 0 0.00209593 0 0 GREB1 9687 broad.mit.edu 37 2 11742591 11742591 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:11742591C>T ENST00000381486.2 + 17 2889 c.2589C>T c.(2587-2589)tcC>tcT p.S863S GREB1_ENST00000234142.5_Silent_p.S863S NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 863 integral to membrane 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) TTATTGAATCCACCCTTTCAG 0.443000 38 177 0 0 0.000589545 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495666 6495666 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:6495666G>A ENST00000264071.2 - 4 1215 c.844C>T c.(844-846)Cgg>Tgg p.R282W TUBB4A_ENST00000540257.1_Missense_Mutation_p.R282W P04350 TBB4_HUMAN tubulin, beta 4A class IVa 282 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity GTCAGGGCCCGGTACTGCTGG 0.677000 21 85 0 0 0.00188189 0 0 CASR 846 broad.mit.edu 37 3 121980902 121980902 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:121980902G>A ENST00000498619.1 + 4 1458 c.1020G>A c.(1018-1020)agG>agA p.R340R CASR_ENST00000296154.5_Silent_p.R340R|CASR_ENST00000490131.1_Silent_p.R340R NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 340 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) TCCATCCCAGGAAGTCTGTCC 0.517000 8 43 0 0 0.000274275 0 0 GOLT1A 127845 broad.mit.edu 37 1 204172067 204172067 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:204172067C>T ENST00000308302.3 - 2 259 c.74G>A c.(73-75)gGa>gAa p.G25E NM_198447.1 NP_940849.1 Q6ZVE7 GOT1A_HUMAN golgi transport 1A 25 protein transport|vesicle-mediated transport Golgi membrane|integral to membrane kidney(1)|lung(2)|urinary_tract(1) 4 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) CAGGAGTGTTCCAAAGAGGAT 0.562000 25 46 0 0 0.00106085 0 0 HERC3 8916 broad.mit.edu 37 4 89599133 89599133 + Missense_Mutation SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:89599133A>C ENST00000402738.1 + 19 2283 c.2044A>C c.(2044-2046)Aac>Cac p.N682H HERC3_ENST00000264345.3_Missense_Mutation_p.N682H|HERC3_ENST00000543130.1_Missense_Mutation_p.N126H NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 682 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) CAATGGAGCCAACCTGCAGAA 0.542000 10 49 0 0 0.000978159 0 0 ANK1 286 broad.mit.edu 37 8 41551532 41551532 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:41551532C>T ENST00000396942.1 - 29 3499 c.3416G>A c.(3415-3417)cGg>cAg p.R1139Q ANK1_ENST00000379758.2_Missense_Mutation_p.R1139Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R1139Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R1180Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R1139Q|ANK1_ENST00000347528.4_Missense_Mutation_p.R1139Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R1139Q P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1139 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTGGAACTTCCGGCGCCGGGG 0.647000 13 29 0 0 0.000566183 0 0 MAPK4 5596 broad.mit.edu 37 18 48252373 48252373 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:48252373G>A ENST00000400384.2 + 5 1931 c.895G>A c.(895-897)Gat>Aat p.D299N MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.D88N NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 299 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TAACCCCATGGATCGCCTAAC 0.552000 8 80 0 0 0.000274275 0 0 C1orf123 54987 broad.mit.edu 37 1 53684567 53684567 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:53684567G>A ENST00000294360.4 - 3 160 c.119C>T c.(118-120)tCg>tTg p.S40L C1orf123_ENST00000470385.1_5'UTR NM_017887.1 NP_060357.1 Q9NWV4 CA123_HUMAN chromosome 1 open reading frame 123 40 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1) 6 CCACTTGTCCGAAATCTCACC 0.488000 36 138 0 0 0.00195071 0 0 SEC16B 89866 broad.mit.edu 37 1 177908853 177908853 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:177908853G>A ENST00000308284.6 - 18 2276 c.2187C>T c.(2185-2187)gcC>gcT p.A729A RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 729 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 TTGTTCCTCCGGCTCCCGAAA 0.408000 8 11 0 0 0.000274275 0 0 KCNK16 83795 broad.mit.edu 37 6 39286889 39286889 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:39286889C>T ENST00000425054.2 - 2 233 c.234G>A c.(232-234)gtG>gtA p.V78V KCNK16_ENST00000507712.1_Silent_p.V13V|KCNK16_ENST00000373229.5_Silent_p.V78V|KCNK16_ENST00000373227.4_Silent_p.V78V|KCNK16_ENST00000437525.2_Silent_p.V78V NM_001135105.1 NP_001128577.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 78 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 TCACACCTTTCACCCAGGCTT 0.537000 22 37 0 0 0.000878237 0 0 ZNF559 84527 broad.mit.edu 37 19 9449237 9449237 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9449237G>A ENST00000393883.2 + 3 660 c.12G>A c.(10-12)ggG>ggA p.G4G ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000592504.1_Silent_p.G4G|ZNF559_ENST00000603380.1_Silent_p.G4G|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Silent_p.G68G|ZNF559_ENST00000586255.1_Silent_p.G32G|ZNF559_ENST00000592896.1_Silent_p.G32G|ZNF559_ENST00000585352.1_Silent_p.G4G|ZNF177_ENST00000541595.2_5'UTR|ZNF559_ENST00000317221.7_Silent_p.G4G|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602738.1_5'UTR NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 TGGTGGCTGGGTGGTTGACAA 0.378000 28 61 0 0 0.000491102 0 0 PRDM10 56980 broad.mit.edu 37 11 129780471 129780471 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:129780471G>A ENST00000358825.5 - 20 3306 c.3075C>T c.(3073-3075)tcC>tcT p.S1025S PRDM10_ENST00000304538.6_Silent_p.S888S|PRDM10_ENST00000528746.1_Silent_p.S982S|PRDM10_ENST00000360871.3_Silent_p.S1021S|PRDM10_ENST00000423662.2_Silent_p.S926S|PRDM10_ENST00000526082.1_Silent_p.S939S NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 1012 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GCCCCTGTGTGGAAGAACTGC 0.602000 16 20 0 0 0.000422831 0 0 SLC6A3 6531 broad.mit.edu 37 5 1406321 1406321 + Silent SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:1406321G>C ENST00000270349.9 - 12 1708 c.1581C>G c.(1579-1581)gtC>gtG p.V527V SLC6A3_ENST00000453492.2_Silent_p.V527V NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 527 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body 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) AGCAGGGGCTGACCAGCTTCC 0.682000 16 63 0 0 0.000566183 0 0 TTC12 54970 broad.mit.edu 37 11 113233138 113233138 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:113233138C>T ENST00000393020.1 + 19 2035 c.1630C>T c.(1630-1632)Ctg>Ttg p.L544L TTC12_ENST00000314756.3_Silent_p.L544L|TTC12_ENST00000529221.1_Silent_p.L544L|TTC12_ENST00000483239.2_Silent_p.L550L Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 544 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TGCTGGTGTTCTGAGCCGGAC 0.438000 53 100 0 0 0.000781405 0 0 HBP1 26959 broad.mit.edu 37 7 106840715 106840715 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:106840715C>T ENST00000222574.4 + 10 1682 c.1496C>T c.(1495-1497)cCt>cTt p.P499L HBP1_ENST00000468410.1_Missense_Mutation_p.P499L|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000485846.1_Missense_Mutation_p.P499L NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 499 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 CGTTTAAATCCTGACTGTTGG 0.388000 9 58 0 0 0.000673444 0 0 OR2G3 81469 broad.mit.edu 37 1 247769355 247769355 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:247769355C>T ENST00000320002.2 + 1 500 c.468C>T c.(466-468)tcC>tcT p.S156S RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 156 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) TGGCTAGTTCCCTAATCCATG 0.483000 30 79 0 0 0.00178596 0 0 CD101 9398 broad.mit.edu 37 1 117559809 117559809 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:117559809C>T ENST00000256652.4 + 5 1384 c.1326C>T c.(1324-1326)ccC>ccT p.P442P CD101_ENST00000369470.1_Silent_p.P442P NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 442 Ig-like C2-type 4. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTGAAAGTCCCCTGTCTGTGA 0.567000 7 40 0 0 0.00198382 0 0 SERPINB12 89777 broad.mit.edu 37 18 61233848 61233848 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:61233848G>A ENST00000382768.1 + 7 882 c.882G>A c.(880-882)agG>agA p.R294R SERPINB12_ENST00000269491.1_Silent_p.R274R Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 274 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 AGCTTGAAAGGAAAATCACCT 0.463000 34 87 0 0 0.000814825 0 0 TPO 7173 broad.mit.edu 37 2 1500403 1500403 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:1500403G>A ENST00000345913.4 + 13 2343 c.2252G>A c.(2251-2253)gGg>gAg p.G751E TPO_ENST00000329066.4_Missense_Mutation_p.G751E|TPO_ENST00000349624.3_Missense_Mutation_p.G578E|TPO_ENST00000337415.3_Missense_Mutation_p.G751E|TPO_ENST00000382198.1_Missense_Mutation_p.G578E|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.G694E|TPO_ENST00000346956.3_Missense_Mutation_p.G751E NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 751 Sushi. cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GTGGAGAATGGGGACTTTGTG 0.547000 53 168 0 0 0.000781405 0 0 TSSC2 650368 broad.mit.edu 37 11 3430139 3430139 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:3430139C>T ENST00000529482.1 + 0 2268 CGAGCAGCGCCTCCCAGTGGC 0.547000 8 14 0 0 0.000274275 0 0 RGAG1 57529 broad.mit.edu 37 X 109694148 109694148 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:109694148C>T ENST00000465301.2 + 3 549 c.303C>T c.(301-303)tcC>tcT p.S101S RGAG1_ENST00000540313.1_Silent_p.S101S NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 101 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GGGCACTTTCCCCATTGCTAA 0.532000 33 40 0 0 0.00111076 0 0 MRPL37 51253 broad.mit.edu 37 1 54678204 54678204 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:54678204C>T ENST00000605337.1 + 5 911 c.863C>T c.(862-864)cCc>cTc p.P288L MRPL37_ENST00000360840.5_Missense_Mutation_p.P288L|MRPL37_ENST00000336230.6_Missense_Mutation_p.P157L Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 288 translation mitochondrial ribosome structural constituent of ribosome NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2) 19 TACCCCTATCCCCATACCCTG 0.512000 62 225 0 0 0.000781405 0 0 CRHR1 1394 broad.mit.edu 37 17 43912069 43912069 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:43912069C>T ENST00000314537.5 + 13 1412 c.1187C>T c.(1186-1188)tCc>tTc p.S396F CRHR1_ENST00000577353.1_Missense_Mutation_p.S382F|CRHR1_ENST00000398285.3_Missense_Mutation_p.S425F|CRHR1_ENST00000352855.5_Missense_Mutation_p.S356F|CRHR1_ENST00000293493.7_Missense_Mutation_p.S221F|CRHR1_ENST00000339069.5_Missense_Mutation_p.P250S NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 425 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CGTGCCATGTCCATCCCCACC 0.632000 19 44 0 0 0.00229938 0 0 NXPE4 54827 broad.mit.edu 37 11 114441812 114441812 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:114441812G>A ENST00000375478.3 - 6 1663 c.1483C>T c.(1483-1485)Caa>Taa p.Q495* NXPE4_ENST00000424261.2_Nonsense_Mutation_p.Q211* NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 ATGAGATATTGAATGTAACCA 0.378000 26 43 0 0 0.0024448 0 0 POF1B 79983 broad.mit.edu 37 X 84563138 84563138 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:84563138C>T ENST00000262753.4 - 10 1187 c.1042G>A c.(1042-1044)Gat>Aat p.D348N POF1B_ENST00000373145.3_Missense_Mutation_p.D348N NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 348 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 ACTGTCATATCATTTTGAAGA 0.358000 5 8 0 0 0.000602214 0 0 PAX3 5077 broad.mit.edu 37 2 223086015 223086015 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:223086015G>A ENST00000350526.4 - 6 1020 c.884C>T c.(883-885)cCt>cTt p.P295L PAX3_ENST00000344493.4_Missense_Mutation_p.P295L|PAX3_ENST00000336840.6_Missense_Mutation_p.P295L|PAX3_ENST00000392070.2_Missense_Mutation_p.P295L|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.P295L|PAX3_ENST00000409551.3_Missense_Mutation_p.P294L NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 295 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCAGTGGGAGGGAACCCCCC 0.542000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 43 123 0 0 0.000509022 0 0 CACNA1C 775 broad.mit.edu 37 12 2622102 2622102 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:2622102G>A ENST00000399655.1 + 9 1607 c.1342G>A c.(1342-1344)Gat>Aat p.D448N CACNA1C_ENST00000327702.7_Missense_Mutation_p.D448N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D448N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D448N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D448N NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 448 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGAAGACATCGATCCTGAGAA 0.567000 5 9 0 0 0.000602214 0 0 DMXL1 1657 broad.mit.edu 37 5 118485689 118485689 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:118485689C>T ENST00000311085.8 + 18 4247 c.4167C>T c.(4165-4167)ttC>ttT p.F1389F DMXL1_ENST00000539542.1_Silent_p.F1389F NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1389 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CCCAGGCATTCAACAAGGCTG 0.433000 5 20 0 0 0.00198382 0 0 OR11H6 122748 broad.mit.edu 37 14 20692327 20692327 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:20692327C>T ENST00000315519.2 + 1 537 c.459C>T c.(457-459)atC>atT p.I153I NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) ACCCCTCCATCATGACTGGGA 0.433000 16 44 0 0 0.000422831 0 0 CCR1 1230 broad.mit.edu 37 3 46245133 46245133 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:46245133C>T ENST00000296140.3 - 2 797 c.672G>A c.(670-672)aaG>aaA p.K224K CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 224 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) TTAGCAGAATCTTTATAATCC 0.418000 6 39 0 0 0.00198382 0 0 OR7A5 26659 broad.mit.edu 37 19 14938326 14938326 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:14938326G>A ENST00000322301.3 - 2 815 c.728C>T c.(727-729)tCt>tTt p.S243F OR7A5_ENST00000594432.1_Missense_Mutation_p.S243F|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 TGAGAGGTGAGATGCACAGGT 0.473000 19 44 0 0 0.00229938 0 0 TNFAIP8 25816 broad.mit.edu 37 5 118728837 118728837 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:118728837G>A ENST00000504771.2 + 2 2135 c.358G>A c.(358-360)Gat>Aat p.D120N TNFAIP8_ENST00000503646.1_Missense_Mutation_p.D120N|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.D122N|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.D110N|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.D132N NM_014350.2 NP_055165.2 O95379 TFIP8_HUMAN tumor necrosis factor, alpha-induced protein 8 120 anti-apoptosis|apoptosis|negative regulation of anti-apoptosis cytoplasm caspase inhibitor activity|protein binding ovary(1) 1 all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231) Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829) CCATCAGGTGGATTATACCTT 0.423000 7 39 0 0 0.00198382 0 0 GML 2765 broad.mit.edu 37 8 143928033 143928033 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:143928033G>A ENST00000220940.1 + 4 494 c.404G>A c.(403-405)gGa>gAa p.G135E NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 135 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane p.G135V(1) NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTTCCAGAAGGAACTGTGAGG 0.463000 12 38 0 0 0.000219431 0 0 FAN1 22909 broad.mit.edu 37 15 31218056 31218056 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:31218056C>T ENST00000362065.4 + 10 2693 c.2402C>T c.(2401-2403)gCc>gTc p.A801V FAN1_ENST00000568145.1_3'UTR NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 801 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 GTGATGGAGGCCGGGGAGGCC 0.587000 Direct reversal of damage 37 184 0 0 0.000953801 0 0 RWDD3 25950 broad.mit.edu 37 1 95712368 95712368 + Missense_Mutation SNP T T G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:95712368T>G ENST00000370202.4 + 4 822 c.746T>G c.(745-747)tTt>tGt p.F249C RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000263893.6_3'UTR|RWDD3_ENST00000495272.1_3'UTR NM_001199682.1|NM_015485.4 NP_001186611.1|NP_056300.2 Q9Y3V2 RWDD3_HUMAN RWD domain containing 3 249 cytoplasm|nucleus protein binding kidney(1)|large_intestine(2)|lung(6)|ovary(1) 10 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) CAAAAGGAATTTGAAACTGCA 0.338000 23 18 0 0 0.000720815 0 0 FN1 2335 broad.mit.edu 37 2 216269122 216269122 + Silent SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:216269122G>C ENST00000354785.4 - 20 3612 c.3243C>G c.(3241-3243)gtC>gtG p.V1081V FN1_ENST00000323926.6_Silent_p.V1081V|FN1_ENST00000443816.1_Silent_p.V1081V|FN1_ENST00000421182.1_Silent_p.V1081V|FN1_ENST00000432072.2_Silent_p.V1081V|FN1_ENST00000346544.3_Silent_p.V1081V|FN1_ENST00000345488.5_Silent_p.V1081V|FN1_ENST00000357867.4_Silent_p.V1081V|FN1_ENST00000359671.1_Silent_p.V1081V|FN1_ENST00000357009.2_Silent_p.V1081V|FN1_ENST00000446046.1_Silent_p.V1081V|FN1_ENST00000336916.4_Silent_p.V1081V|FN1_ENST00000356005.4_Silent_p.V1081V P02751 FINC_HUMAN fibronectin 1 1081 Fibronectin type-III 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) GTGTGGTAAAGACTCCAGTGG 0.408000 20 101 0 0 0.00106085 0 0 PKP3 11187 broad.mit.edu 37 11 403636 403636 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:403636C>T ENST00000331563.2 + 10 2018 c.1942C>T c.(1942-1944)Cgc>Tgc p.R648C NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 648 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTGCTGAGCCGCCTGGCCCT 0.677000 8 59 0 0 0.000442599 0 0 SQRDL 58472 broad.mit.edu 37 15 45968449 45968449 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:45968449G>A ENST00000260324.7 + 6 1191 c.805G>A c.(805-807)Gat>Aat p.D269N RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.D269N|SQRDL_ENST00000568606.1_Missense_Mutation_p.D269N NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 269 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) AGTCCGAGCCGATAAACAAGA 0.478000 18 70 0 0 0.00121646 0 0 NAA15 80155 broad.mit.edu 37 4 140306070 140306070 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:140306070C>T ENST00000296543.5 + 18 2563 c.2240C>T c.(2239-2241)cCa>cTa p.P747L NAA15_ENST00000398947.1_Missense_Mutation_p.P746L NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 747 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GCAACGAATCCAAAGAATTTT 0.294000 5 66 0 0 0.00116845 0 0 CHERP 10523 broad.mit.edu 37 19 16633892 16633892 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:16633892G>A ENST00000546361.2 - 11 2102 c.1951C>T c.(1951-1953)Cct>Tct p.P651S CHERP_ENST00000198939.6_Missense_Mutation_p.P662S|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 651 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 AGCCCAGCAGGGAGATCGAAG 0.612000 29 84 0 0 0.000491102 0 0 PSMD5 5711 broad.mit.edu 37 9 123591436 123591436 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:123591436G>A ENST00000210313.3 - 5 686 c.612C>T c.(610-612)acC>acT p.T204T PSMD5_ENST00000373904.5_Silent_p.T161T|PSMD5-AS1_ENST00000589026.1_RNA NM_001270427.1|NM_005047.3 NP_001257356.1|NP_005038.1 Q16401 PSMD5_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 204 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|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1) 10 ATCCACTTGTGGTACAGTAGT 0.383000 41 59 0 0 0.000781405 0 0 E2F8 79733 broad.mit.edu 37 11 19251050 19251050 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:19251050G>A ENST00000527884.1 - 10 2076 c.1844C>T c.(1843-1845)tCc>tTc p.S615F E2F8_ENST00000250024.4_Missense_Mutation_p.S615F|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 615 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 TTTCTTTTTGGAACCACTGTC 0.483000 61 121 0 0 0.000781405 0 0 TRIM58 25893 broad.mit.edu 37 1 248039598 248039598 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:248039598C>T ENST00000366481.3 + 6 1316 c.1268C>T c.(1267-1269)tCa>tTa p.S423L OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 423 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) GGTGAAATTTCATTCTACAAT 0.438000 64 147 0 0 0.000781405 0 0 SLC38A3 10991 broad.mit.edu 37 3 50251628 50251628 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:50251628G>A ENST00000420502.1 + 0 150 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) GGTGTGCCCTGAGCCATGGAG 0.617000 12 35 0 0 0.000219431 0 0 OR1J4 26219 broad.mit.edu 37 9 125281530 125281530 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:125281530C>T ENST00000340750.1 + 1 111 c.111C>T c.(109-111)atC>atT p.I37I NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 TGTACCTGATCACGGTGCTGG 0.562000 19 87 0 0 0.000958276 0 0 C9 735 broad.mit.edu 37 5 39285317 39285317 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:39285317A>T ENST00000263408.4 - 11 1759 c.1664T>A c.(1663-1665)tTc>tAc p.F555Y NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 555 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TTCATTGGGGAACTCTAGGGC 0.418000 6 34 0 0 0.000274275 0 0 TKTL1 8277 broad.mit.edu 37 X 153543534 153543534 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:153543534G>A ENST00000369915.3 + 7 1065 c.876G>A c.(874-876)cgG>cgA p.R292R TKTL1_ENST00000369912.2_Silent_p.R236R|TKTL1_ENST00000217905.7_Silent_p.R32R NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 292 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TAGCTACTCGGAAAGCATGCG 0.458000 31 40 0 0 0.0024448 0 0 RBM47 54502 broad.mit.edu 37 4 40439833 40439833 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:40439833G>A ENST00000319592.4 - 4 1787 c.1078C>T c.(1078-1080)Ccc>Tcc p.P360S RBM47_ENST00000381793.2_Missense_Mutation_p.P360S|RBM47_ENST00000514014.1_Missense_Mutation_p.P322S|RBM47_ENST00000295971.7_Missense_Mutation_p.P360S|RBM47_ENST00000381795.6_Missense_Mutation_p.P360S|RBM47_ENST00000515809.1_Intron A0AV96 RBM47_HUMAN RNA binding motif protein 47 360 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 GCGTTGTAGGGGTAGCCGTAG 0.637000 6 27 0 0 0.00116845 0 0 GPR97 222487 broad.mit.edu 37 16 57713196 57713196 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:57713196C>T ENST00000333493.4 + 5 761 c.600C>T c.(598-600)atC>atT p.I200I GPR97_ENST00000450388.3_Silent_p.I80I|GPR97_ENST00000327655.6_5'UTR NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 200 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTCTGGAGATCGTCTTCTCTC 0.647000 28 47 0 0 0.000491102 0 0 BSN 8927 broad.mit.edu 37 3 49698922 49698922 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:49698922C>T ENST00000296452.4 + 6 9758 c.9644C>T c.(9643-9645)cCc>cTc p.P3215L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3215 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) CCCACCTACCCCTCTGACTCA 0.587000 37 94 0 0 0.000953801 0 0 KIAA1009 22832 broad.mit.edu 37 6 84904664 84904664 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:84904664G>A ENST00000403245.3 - 10 1079 c.965C>T c.(964-966)tCa>tTa p.S322L KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.S246L NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 322 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) ACCTTTCACTGAGCTCTTGAT 0.333000 18 39 0 0 0.000958276 0 0 CCDC80 151887 broad.mit.edu 37 3 112337925 112337925 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:112337925C>T ENST00000206423.3 - 4 3015 c.2062G>A c.(2062-2064)Gat>Aat p.D688N CCDC80_ENST00000439685.2_Missense_Mutation_p.D688N NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 688 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 TCTTCATCATCCACCACTCGC 0.458000 7 36 0 0 0.000157383 0 0 KLHDC3 116138 broad.mit.edu 37 6 42987057 42987057 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:42987057C>T ENST00000326974.4 + 10 1230 c.1035C>T c.(1033-1035)gcC>gcT p.A345A KLHDC3_ENST00000332245.8_Silent_p.A286A|KLHDC3_ENST00000244670.8_Silent_p.A211A NM_057161.3 NP_476502.1 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 345 reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GCAAACTGGCCGTGATTCAGT 0.498000 171 216 0 0 0.000781405 0 0 PKN2 5586 broad.mit.edu 37 1 89279410 89279410 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:89279410G>A ENST00000370521.3 + 16 2632 c.2273G>A c.(2272-2274)aGa>aAa p.R758K PKN2_ENST00000544045.1_Missense_Mutation_p.R432K|PKN2_ENST00000370505.3_Missense_Mutation_p.R601K|PKN2_ENST00000370513.5_Missense_Mutation_p.R710K NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 758 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TCTGAACCAAGAGCTGTGTGA 0.378000 68 149 0 0 0.000781405 0 0 SH3GL3 6457 broad.mit.edu 37 15 84286953 84286953 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:84286953G>A ENST00000324537.5 + 12 1474 c.982G>A c.(982-984)Gaa>Aaa p.E328K SH3GL3_ENST00000434347.1_Missense_Mutation_p.E328K|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000535412.1_3'UTR|SH3GL3_ENST00000427482.2_Missense_Mutation_p.E320K Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 320 SH3. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding p.E328K(1) central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 TCAAATAGATGAAAACTGGTA 0.408000 12 58 0 0 0.000978159 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866140 131866140 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:131866140C>T ENST00000359827.3 - 18 4454 c.3492_splice c.e18+1 p.K1164_splice PLXNA4_ENST00000321063.4_Splice_Site_p.K1164_splice Q9HCM2 PLXA4_HUMAN plexin A4 1164 IPT/TIG 4. 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 CTCACTCCACCTTTAGGATGA 0.567000 42 121 0 0 0.000781405 0 0 SLAMF6 114836 broad.mit.edu 37 1 160466008 160466008 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:160466008G>A ENST00000368059.3 - 2 294 c.225C>T c.(223-225)atC>atT p.I75I SLAMF6_ENST00000368057.3_Silent_p.I75I|SLAMF6_ENST00000368055.1_Intron NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 75 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) TAGTCACGTGGATTTCTGGAC 0.468000 23 59 0 0 0.00229938 0 0 SSPO 23145 broad.mit.edu 37 7 149492727 149492727 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:149492727C>T ENST00000378016.2 + 0 6507 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) ATCGTGACCTCCTGCCTGGCA 0.592000 65 182 0 0 0.000781405 0 0 PRPS2 5634 broad.mit.edu 37 X 12838834 12838834 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:12838834C>T ENST00000380668.5 + 6 904 c.776C>T c.(775-777)tCc>tTc p.S259F PRPS2_ENST00000398491.2_Missense_Mutation_p.S262F NM_001039091.2|NM_002765.4 NP_001034180.1|NP_002756.1 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 259 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 16 CCAGCTATTTCCAGAATAAAT 0.438000 21 41 0 0 0.00229938 0 0 ASTN1 460 broad.mit.edu 37 1 176992672 176992672 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:176992672C>T ENST00000367654.2 - 7 1319 c.1306G>A c.(1306-1308)Gat>Aat p.D436N ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D436N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D436N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D436N O14525 ASTN1_HUMAN astrotactin 1 436 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 TCACTGGCATCCAGCTGGCTC 0.607000 7 21 0 0 0.000157383 0 0 CATSPERB 79820 broad.mit.edu 37 14 92136225 92136225 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:92136225G>A ENST00000256343.3 - 14 1376 c.1220C>T c.(1219-1221)tCa>tTa p.S407L NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 407 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) AGAAGAGAATGATGAAGGAAA 0.413000 17 32 0 0 0.000422831 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144077105 144077105 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:144077105C>T ENST00000056217.5 + 15 4924 c.4750C>T c.(4750-4752)Cga>Tga p.R1584* ARHGEF5_ENST00000471847.2_Nonsense_Mutation_p.R506* NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 1584 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) GGAAGCTCATCGAGTCAAGAC 0.547000 15 106 0 0 0.000566183 0 0 CDRT1 374286 broad.mit.edu 37 17 15517312 15517312 + Missense_Mutation SNP C C T rs113130850 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:15517312C>T ENST00000455584.2 - 9 1679 c.1636G>A c.(1636-1638)Gaa>Aaa p.E546K CDRT1_ENST00000395906.3_Missense_Mutation_p.E236K CTATTCATTTCGGATATACAC 0.483000 42 79 0 0 0.000680045 0 0 MSR1 4481 broad.mit.edu 37 8 16001091 16001091 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:16001091C>T ENST00000350896.3 - 8 1206 c.1009G>A c.(1009-1011)Gaa>Aaa p.E337K MSR1_ENST00000262101.5_Missense_Mutation_p.E337K|MSR1_ENST00000445506.2_Missense_Mutation_p.E355K|MSR1_ENST00000381998.4_Missense_Mutation_p.E337K|MSR1_ENST00000355282.2_Missense_Mutation_p.E337K|MSR1_ENST00000536385.1_Missense_Mutation_p.E111K NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 400 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTCCCCTTTTCCCCTTTCTGG 0.348000 14 40 0 0 0.000422831 0 0 DDI2 84301 broad.mit.edu 37 1 15978366 15978366 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:15978366C>T ENST00000480945.1 + 8 1330 c.1159C>T c.(1159-1161)Ctt>Ttt p.L387F NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 387 proteolysis aspartic-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|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;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) AGCAGAAGCCCTTCAAAAATC 0.512000 21 51 0 0 0.000586117 0 0 ABI3BP 25890 broad.mit.edu 37 3 100645168 100645168 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:100645168C>T ENST00000471714.1 - 2 367 c.258G>A c.(256-258)ggG>ggA p.G86G ABI3BP_ENST00000495063.1_Silent_p.G86G|ABI3BP_ENST00000284322.5_Silent_p.G86G|ABI3BP_ENST00000532144.1_5'UTR Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 86 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 CTGTGAATTTCCCTTCAGCGG 0.473000 19 24 0 0 0.00229938 0 0 C6 729 broad.mit.edu 37 5 41201710 41201710 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:41201710G>A ENST00000263413.3 - 3 514 c.250C>T c.(250-252)Ctg>Ttg p.L84L C6_ENST00000337836.5_Silent_p.L84L NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 84 TSP type-1 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) AAATCTCCCAGGAGGCAGTTG 0.443000 5 17 0 0 0.000602214 0 0 FAT3 120114 broad.mit.edu 37 11 92085335 92085335 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:92085335C>T ENST00000298047.6 + 1 74 c.57C>T c.(55-57)atC>atT p.I19I FAT3_ENST00000409404.2_Silent_p.I19I|FAT3_ENST00000541502.1_Silent_p.I19I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 19 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) GTTGCCTCATCCTCCTGCTTT 0.507000 TCGA Ovarian(4;0.039) 93 218 0 0 0.000781405 0 0 COL7A1 1294 broad.mit.edu 37 3 48619044 48619044 + Missense_Mutation SNP G G A rs146418495 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:48619044G>A ENST00000328333.8 - 49 4851 c.4744C>T c.(4744-4746)Cct>Tct p.P1582S COL7A1_ENST00000454817.1_Missense_Mutation_p.P1582S NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1582 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) GGGTCTCCAGGAAGAACCAAG 0.567000 21 77 0 0 0.00047179 0 0 SCN10A 6336 broad.mit.edu 37 3 38763776 38763776 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:38763776G>A ENST00000449082.2 - 19 3479 c.3480C>T c.(3478-3480)ttC>ttT p.F1160F NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1160 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) GCAGGATCATGAAGATGATGA 0.537000 13 76 0 0 0.00074312 0 0 CLIP4 79745 broad.mit.edu 37 2 29404519 29404519 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:29404519G>A ENST00000320081.5 + 16 2133 c.1878G>A c.(1876-1878)ggG>ggA p.G626G CLIP4_ENST00000404424.1_Silent_p.G626G|CLIP4_ENST00000401617.2_Silent_p.G519G|CLIP4_ENST00000481628.1_3'UTR NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 626 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) TGCACGAGGGGTCTCAGGTCC 0.567000 11 57 0 0 0.000978159 0 0 PNMA1 9240 broad.mit.edu 37 14 74179852 74179852 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:74179852A>T ENST00000316836.3 - 1 1276 c.491T>A c.(490-492)tTc>tAc p.F164Y NM_006029.4 NP_006020.4 Q8ND90 PNMA1_HUMAN paraneoplastic Ma antigen 1 164 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2) 13 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) cctccccgagaaaagtgtcag 0.512000 12 76 0 0 0.00185496 0 0 CACNG3 10368 broad.mit.edu 37 16 24372881 24372881 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:24372881C>T ENST00000005284.3 + 4 1847 c.645C>T c.(643-645)ttC>ttT p.F215F NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 215 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) ACTCGGAGTTCCTGAAGAAAT 0.522000 16 30 0 0 0.000308642 0 0 ERC2 26059 broad.mit.edu 37 3 56469002 56469002 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:56469002C>T ENST00000288221.6 - 2 289 c.34G>A c.(34-36)Gaa>Aaa p.E12K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 12 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) GGGCTACCTTCCAGATTGGTG 0.458000 8 30 0 0 0.000274275 0 0 SCGB3A2 117156 broad.mit.edu 37 5 147261022 147261022 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:147261022C>T ENST00000296694.4 + 2 162 c.69C>T c.(67-69)ctC>ctT p.L23L C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000514688.1_3'UTR|SCGB3A2_ENST00000504320.1_5'UTR NM_054023.4 NP_473364.1 Q96PL1 SG3A2_HUMAN secretoglobin, family 3A, member 2 23 extracellular region binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCCTTCCTCATCAACAAAG 0.468000 14 63 0 0 0.000308642 0 0 SH2D4B 387694 broad.mit.edu 37 10 82330031 82330031 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:82330031G>A ENST00000339284.2 + 2 736 c.306G>A c.(304-306)gaG>gaA p.E102E SH2D4B_ENST00000470604.2_Silent_p.E101E|SH2D4B_ENST00000313455.4_Silent_p.E53E NM_207372.2 NP_997255.2 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B 101 Glu-rich. endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) TGATTGCAGAGAGGGCGCGGC 0.607000 21 77 0 0 0.00188189 0 0 ZGPAT 84619 broad.mit.edu 37 20 62365021 62365021 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:62365021C>T ENST00000328969.5 + 4 928 c.801C>T c.(799-801)ccC>ccT p.P267P ZGPAT_ENST00000369967.3_Silent_p.P267P|ZGPAT_ENST00000355969.6_Silent_p.P267P|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000448100.1_Silent_p.P267P|ZGPAT_ENST00000357119.4_Silent_p.P267P NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 267 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) GCATCCTGCCCCCACTGCGCA 0.637000 47 74 0 0 0.000781405 0 0 OR2M5 127059 broad.mit.edu 37 1 248308965 248308965 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:248308965G>A ENST00000366476.1 + 1 516 c.516G>A c.(514-516)cgG>cgA p.R172R NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 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;0.0388) GTGGGTCTCGGGAAATAGCCC 0.428000 17 132 0 0 0.00152264 0 0 QSOX1 5768 broad.mit.edu 37 1 180151428 180151428 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:180151428G>A ENST00000367602.3 + 6 800 c.726G>A c.(724-726)cgG>cgA p.R242R QSOX1_ENST00000367600.5_Silent_p.R242R O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 242 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 TGCTGTTCCGGAATGGCTCTG 0.602000 53 108 0 0 0.000781405 0 0 HHIPL2 79802 broad.mit.edu 37 1 222716994 222716994 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:222716994G>A ENST00000343410.6 - 2 917 c.859C>T c.(859-861)Cgc>Tgc p.R287C NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 287 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding p.R287C(1) 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) TAGAACTTGCGATTGTGGCGG 0.473000 67 432 0 0 0.000781405 0 0 OR6C4 341418 broad.mit.edu 37 12 55945146 55945146 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:55945146C>T ENST00000394256.2 + 1 164 c.136C>T c.(136-138)Ctc>Ttc p.L46F RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TATTATCACCCTCACCTTACT 0.418000 30 57 0 0 0.000692331 0 0 SEZ6L 23544 broad.mit.edu 37 22 26694974 26694974 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:26694974C>T ENST00000529632.2 + 5 1383 c.1187C>T c.(1186-1188)cCc>cTc p.P396L SEZ6L_ENST00000248933.6_Missense_Mutation_p.P396L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P396L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P396L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P169L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P169L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P396L 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 396 Sushi 1. 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 TGCAACTTTCCCCGCCGGCCT 0.592000 15 45 0 0 0.000958276 0 0 TRPM7 54822 broad.mit.edu 37 15 50902009 50902009 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:50902009G>A ENST00000313478.7 - 18 2711 c.2430C>T c.(2428-2430)atC>atT p.I810I TRPM7_ENST00000560955.1_Silent_p.I810I NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 810 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTACCATGGGGATCTCTTCTG 0.313000 8 78 0 0 0.000442599 0 0 PCDH15 65217 broad.mit.edu 37 10 55568855 55568855 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:55568855C>T ENST00000395445.1 - 36 5349 c.4955G>A c.(4954-4956)gGa>gAa p.G1652E PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.G848E|PCDH15_ENST00000395440.1_Missense_Mutation_p.G586E|PCDH15_ENST00000395442.1_Missense_Mutation_p.G517E NM_001142769.1 NP_001136241.1 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) TGCTTTTTCTCCTTCTGACTC 0.478000 HNSCC(58;0.16) 7 32 0 0 0.000157383 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672504 141672504 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:141672504G>A ENST00000547270.1 - 1 1069 c.986C>T c.(985-987)tCc>tTc p.S329F NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 329 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CAGTGTCCGGGAATCTGCCTT 0.478000 12 40 0 0 0.000566183 0 0 STRADB 55437 broad.mit.edu 37 2 202340374 202340374 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:202340374C>T ENST00000194530.3 + 7 822 c.457C>T c.(457-459)Cct>Tct p.P153S STRADB_ENST00000392249.2_Missense_Mutation_p.P153S NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 153 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 GACCTATTTTCCTGAAGGAAT 0.378000 68 154 0 0 0.000781405 0 0 OBSCN 84033 broad.mit.edu 37 1 228554256 228554256 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:228554256G>A ENST00000570156.2 + 95 22277 c.22203G>A c.(22201-22203)ctG>ctA p.L7401L OBSCN_ENST00000422127.1_Silent_p.L6444L|OBSCN_ENST00000366707.4_Silent_p.L4078L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6444 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) AGGCAGAGCTGCTGGTGCTTG 0.637000 10 54 0 0 0.000978159 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030492 10030492 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:10030492G>A ENST00000378380.3 + 6 1604 c.1275G>A c.(1273-1275)aaG>aaA p.K425K ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.K425K|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 AAAAAGGAAAGAAAGGGAAAT 0.413000 25 54 0 0 0.000720815 0 0 JAG1 182 broad.mit.edu 37 20 10653563 10653563 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:10653563G>A ENST00000254958.5 - 2 688 c.173C>T c.(172-174)gCc>gTc p.A58V NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 58 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CGGGTTCCGGGCGCCGCCGCA 0.657000 Alagille Syndrome 21 40 0 0 0.00188189 0 0 EP400 57634 broad.mit.edu 37 12 132445388 132445388 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:132445388C>T ENST00000333577.4 + 2 333 c.224C>T c.(223-225)aCc>aTc p.T75I EP400_ENST00000389561.2_Missense_Mutation_p.T75I|EP400_ENST00000389562.2_Missense_Mutation_p.T75I|EP400_ENST00000332482.4_Missense_Mutation_p.T75I|EP400_ENST00000330386.6_Missense_Mutation_p.T75I Q96L91 EP400_HUMAN E1A binding protein p400 75 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) GTGAACATCACCCTGCAGAGC 0.622000 34 50 0 0 0.00148497 0 0 CUL9 23113 broad.mit.edu 37 6 43168245 43168245 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:43168245C>T ENST00000252050.4 + 15 3540 c.3456C>T c.(3454-3456)ttC>ttT p.F1152F CUL9_ENST00000354495.3_Silent_p.F1042F|CUL9_ENST00000372647.2_Silent_p.F1152F NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1152 DOC. 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 TTGATGTGTTCCTCAGGCATC 0.547000 23 41 0 0 0.00127121 0 0 EFCAB6 64800 broad.mit.edu 37 22 44127612 44127612 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:44127612C>T ENST00000262726.7 - 8 977 c.724G>A c.(724-726)Gac>Aac p.D242N EFCAB6_ENST00000356087.4_Missense_Mutation_p.D136N|EFCAB6_ENST00000358439.4_Missense_Mutation_p.D136N|EFCAB6_ENST00000396231.2_Missense_Mutation_p.D90N NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) AGGTTCAAGTCGTTATTTATG 0.308000 25 81 0 0 0.000878237 0 0 DSC1 1823 broad.mit.edu 37 18 28739444 28739444 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:28739444G>A ENST00000257197.3 - 2 373 c.112C>T c.(112-114)Cct>Tct p.P38S RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P38S NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 38 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AGATGAGAAGGAACTCGAAGA 0.338000 8 106 0 0 0.000274275 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959564 45959564 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:45959564G>A ENST00000400375.1 - 1 514 c.470C>T c.(469-471)tCt>tTt p.S157F TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 157 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GGAATCCTCAGAGCAGGTGGG 0.612000 12 94 0 0 0.000978159 0 0 ZAK 51776 broad.mit.edu 37 2 174131192 174131192 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:174131192C>T ENST00000375213.3 + 20 2195 c.2117C>T c.(2116-2118)tCa>tTa p.S706L MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.S706L NM_016653.2 NP_057737.2 TCCACTCCTTCAAGAGGAAGA 0.473000 9 33 0 0 0.000442599 0 0 MME 4311 broad.mit.edu 37 3 154886520 154886520 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:154886520G>A ENST00000460393.1 + 20 2034 c.e20-1 MME_ENST00000462745.1_Splice_Site|MME_ENST00000492661.1_Splice_Site|MME_ENST00000493237.1_Splice_Site|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Splice_Site NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 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) TTTTTTAACAGCTTAATGGAA 0.299000 13 58 0 0 0.00185496 0 0 MYF5 4617 broad.mit.edu 37 12 81112737 81112737 + Missense_Mutation SNP G G C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:81112737G>C ENST00000228644.3 + 3 827 c.675G>C c.(673-675)caG>caC p.Q225H NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 225 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 TGCCTCTCCAGGATCTGGCTT 0.483000 32 42 0 0 0.0024448 0 0 FBXL19 54620 broad.mit.edu 37 16 30958239 30958239 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:30958239C>T ENST00000338343.4 + 10 2203 c.1816C>T c.(1816-1818)Cgc>Tgc p.R606C FBXL19_ENST00000380310.2_Missense_Mutation_p.R626C|FBXL19_ENST00000562319.1_Missense_Mutation_p.R606C|FBXL19_ENST00000471231.2_Missense_Mutation_p.R314C|FBXL19_ENST00000565690.1_Missense_Mutation_p.R490C Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 626 DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 GTCCCCACTCCGCGAGACCCT 0.687000 7 18 0 0 0.000274275 0 0 HMCN1 83872 broad.mit.edu 37 1 185987463 185987463 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:185987463G>A ENST00000271588.4 + 34 5678 c.5449G>A c.(5449-5451)Gaa>Aaa p.E1817K HMCN1_ENST00000367492.2_Missense_Mutation_p.E1817K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1817 Ig-like C2-type 15. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CCACAAGAAGGAATTTGAAGT 0.388000 17 48 0 0 0.00074312 0 0 WRN 7486 broad.mit.edu 37 8 30916728 30916728 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:30916728C>T ENST00000298139.5 + 3 405 c.156C>T c.(154-156)tcC>tcT p.S52S NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 52 Interaction with WRNIP1 (By similarity). base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TCACTGGATCCATTGTGTATA 0.363000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 18 154 0 0 0.00188189 0 0 COL6A5 256076 broad.mit.edu 37 3 130095440 130095440 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:130095440C>T ENST00000265379.6 + 3 922 c.428C>T c.(427-429)tCg>tTg p.S143L COL6A5_ENST00000432398.2_Missense_Mutation_p.S143L A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 143 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 GTCCTGGCTTCGGCTGAGTCT 0.502000 4 6 0 0 0.00024832 0 0 LAMA1 284217 broad.mit.edu 37 18 7002281 7002281 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:7002281G>A ENST00000389658.3 - 30 4457 c.4364C>T c.(4363-4365)cCt>cTt p.P1455L NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1455 Laminin EGF-like 16. 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) AGGGCTGTGAGGACAGGCACA 0.577000 17 38 0 0 0.000422831 0 0 CFHR2 3080 broad.mit.edu 37 1 196918726 196918726 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:196918726G>A ENST00000367415.4 + 2 314 c.200G>A c.(199-201)tGg>tAg p.W67* CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.W67* NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 67 Sushi 1. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 AAATCCTTTTGGACTCGCATA 0.383000 11 25 0 0 0.000978159 0 0 CEP250 11190 broad.mit.edu 37 20 34092342 34092342 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:34092342G>A ENST00000397527.1 + 30 6865 c.6145G>A c.(6145-6147)Gaa>Aaa p.E2049K CEP250_ENST00000342580.4_Missense_Mutation_p.E1993K NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2049 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CCAGAGGGATGAAGAGCTGAG 0.562000 11 40 0 0 0.00136819 0 0 GAN 8139 broad.mit.edu 37 16 81398669 81398669 + Missense_Mutation SNP C C T rs150043237 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:81398669C>T ENST00000248272.3 + 8 1489 c.1327C>T c.(1327-1329)Ccc>Tcc p.P443S NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin 443 cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) GTGTTATGATCCCAGGACCCA 0.502000 14 18 0 0 0.000219431 0 0 ENTPD1 953 broad.mit.edu 37 10 97607227 97607227 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:97607227G>A ENST00000371203.5 + 6 1011 c.424G>A c.(424-426)Gac>Aac p.D142N RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000543964.1_Missense_Mutation_p.D172N|ENTPD1_ENST00000539125.1_Missense_Mutation_p.D142N|ENTPD1_ENST00000453258.2_Missense_Mutation_p.D287N|ENTPD1_ENST00000371205.4_Missense_Mutation_p.D280N|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.D292N NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 280 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) AATTCTCAGGGACCCATGCTT 0.408000 11 38 0 0 0.000978159 0 0 DNAJC16 23341 broad.mit.edu 37 1 15874796 15874796 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:15874796C>T ENST00000375847.3 + 7 1060 c.896C>T c.(895-897)tCa>tTa p.S299L DNAJC16_ENST00000375838.1_Missense_Mutation_p.S299L|DNAJC16_ENST00000375849.1_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 21 41 0 0 0.00188189 0 0 OR51S1 119692 broad.mit.edu 37 11 4870287 4870287 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:4870287C>T ENST00000322101.2 - 1 227 c.152G>A c.(151-153)gGc>gAc p.G51D MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) GAGGATGGTGCCATTTCCCAG 0.567000 10 50 0 0 0.000978159 0 0 ANKMY1 51281 broad.mit.edu 37 2 241468854 241468854 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:241468854G>A ENST00000391987.1 - 5 652 c.286C>T c.(286-288)Ctg>Ttg p.L96L ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000272972.3_Silent_p.L96L|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000401804.1_Silent_p.L185L|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Intron Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 96 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) CGGAACCACAGCCCCACGTCC 0.607000 12 17 0 0 0.000978159 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560960 44560960 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:44560960C>T ENST00000332567.4 - 1 1028 c.676G>A c.(676-678)Ggg>Agg p.G226R KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 226 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GATTTGTGCCCCTTGCTGTGG 0.622000 8 22 0 0 0.000274275 0 0 TUSC3 7991 broad.mit.edu 37 8 15517052 15517052 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:15517052C>T ENST00000382020.4 + 4 671 c.463C>T c.(463-465)Cct>Tct p.P155S TUSC3_ENST00000506802.1_Missense_Mutation_p.P155S|TUSC3_ENST00000503731.1_Missense_Mutation_p.P155S|TUSC3_ENST00000509380.1_Missense_Mutation_p.P155S|TUSC3_ENST00000503191.1_3'UTR NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 155 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) CATGCATTTTCCTCCAAAAGG 0.368000 16 38 0 0 0.000422831 0 0 NLRC4 58484 broad.mit.edu 37 2 32474890 32474890 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:32474890C>T ENST00000404025.2 - 5 2531 c.2043G>A c.(2041-2043)ggG>ggA p.G681G NLRC4_ENST00000360906.5_Silent_p.G681G|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.G681G Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 681 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGAATATTTTCCCCAGATATC 0.458000 18 87 0 0 0.000958276 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745789 135745789 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:135745789C>T ENST00000375845.3 - 7 683 c.653G>A c.(652-654)cGa>cAa p.R218Q MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R235Q|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R105Q|MAP3K19_ENST00000315513.3_5'UTR NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GACACCAGATCGCGTGGGCAA 0.403000 51 212 0 0 0.000781405 0 0 PTCHD1 139411 broad.mit.edu 37 X 23412144 23412144 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:23412144C>T ENST00000379361.4 + 3 3369 c.2509C>T c.(2509-2511)Cac>Tac p.H837Y NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 837 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CACCTTCTTTCACTGCTTTGC 0.418000 15 30 0 0 0.000422831 0 0 PLCD4 84812 broad.mit.edu 37 2 219494318 219494318 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:219494318G>A ENST00000450993.2 + 8 1390 c.1051G>A c.(1051-1053)Gga>Aga p.G351R PLCD4_ENST00000432688.1_Missense_Mutation_p.G351R|PLCD4_ENST00000417849.1_Missense_Mutation_p.G351R NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 351 PI-PLC X-box. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CGTTTACCACGGACACACCCT 0.607000 13 35 0 0 0.00136819 0 0 GABRP 2568 broad.mit.edu 37 5 170232728 170232728 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:170232728G>A ENST00000518525.1 + 8 1014 c.550G>A c.(550-552)Gat>Aat p.D184N GABRP_ENST00000519385.1_Missense_Mutation_p.D184N|GABRP_ENST00000265294.4_Missense_Mutation_p.D184N|GABRP_ENST00000519598.1_Missense_Mutation_p.D184N O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 184 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGGGGGCTATGATGGAAATGA 0.502000 5 27 0 0 0.000602214 0 0 ELP5 23587 broad.mit.edu 37 17 7161984 7161984 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:7161984C>T ENST00000574993.1 + 6 934 c.717C>T c.(715-717)tcC>tcT p.S239S ELP5_ENST00000354429.2_Silent_p.S239S|ELP5_ENST00000396628.2_Silent_p.S239S|ELP5_ENST00000396627.2_Silent_p.S239S|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Silent_p.S239S elongator acetyltransferase complex subunit 5 AGCCCTACTCCGATCCTCATA 0.488000 61 85 0 0 0.000781405 0 0 SLIT1 6585 broad.mit.edu 37 10 98817007 98817007 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:98817007G>A ENST00000266058.4 - 12 1362 c.1117C>T c.(1117-1119)Ccc>Tcc p.P373S SLIT1_ENST00000371070.4_Missense_Mutation_p.P373S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 373 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) ACACCACGGGGGAGGTCTGTG 0.567000 5 32 0 0 0.00116845 0 0 HTRA4 203100 broad.mit.edu 37 8 38834132 38834132 + Silent SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:38834132C>A ENST00000302495.4 + 3 745 c.645C>A c.(643-645)acC>acA p.T215T NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 215 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) TCATTATTACCAATGCCCATG 0.493000 6 85 0.000157383 0.000698722 0.000157383 1 0 FLRT3 23767 broad.mit.edu 37 20 14307645 14307645 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:14307645G>A ENST00000378053.3 - 2 764 c.508C>T c.(508-510)Ccc>Tcc p.P170S MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.P170S|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 170 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) AAACCCCAGGGAATTGTGCTA 0.458000 17 50 0 0 0.00074312 0 0 CKAP2 26586 broad.mit.edu 37 13 53035666 53035666 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:53035666G>A ENST00000378037.5 + 4 798 c.708G>A c.(706-708)atG>atA p.M236I CKAP2_ENST00000378034.3_Missense_Mutation_p.M235I|CKAP2_ENST00000258607.5_Missense_Mutation_p.M235I|CKAP2_ENST00000490903.1_Missense_Mutation_p.M187I NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 236 M -> K (in dbSNP:rs35975899). apoptosis|cell cycle centrosome|microtubule|spindle pole breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) CCTCCAATATGACTGCCACTA 0.423000 10 38 0 0 0.000978159 0 0 MLC1 23209 broad.mit.edu 37 22 50512717 50512717 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:50512717G>A ENST00000311597.5 - 8 1248 c.642C>T c.(640-642)atC>atT p.I214I MLC1_ENST00000395876.2_Silent_p.I214I|MLC1_ENST00000431262.2_Silent_p.I184I|MLC1_ENST00000450140.2_Silent_p.I162I|MLC1_ENST00000538737.1_Silent_p.I180I|MLC1_ENST00000535444.1_Silent_p.I135I NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 214 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) TCAGGGCAATGATCCCCCCGA 0.602000 13 32 0 0 0.000219431 0 0 MYBPC1 4604 broad.mit.edu 37 12 102040583 102040583 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:102040583C>T ENST00000549145.1 + 12 1072 c.972C>T c.(970-972)atC>atT p.I324I MYBPC1_ENST00000547509.1_Silent_p.I297I|MYBPC1_ENST00000536007.1_Silent_p.I292I|MYBPC1_ENST00000550270.1_Silent_p.I311I|MYBPC1_ENST00000392934.3_Silent_p.I298I|MYBPC1_ENST00000541119.1_Silent_p.I299I|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000361685.2_Silent_p.I336I|MYBPC1_ENST00000452455.2_Silent_p.I311I|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Silent_p.I311I|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000551300.1_Silent_p.I212I|MYBPC1_ENST00000553190.1_Silent_p.I311I|MYBPC1_ENST00000547405.1_Silent_p.I285I|MYBPC1_ENST00000545503.2_Silent_p.I311I|MYBPC1_ENST00000360610.2_Silent_p.I311I|MYBPC1_ENST00000361466.2_Silent_p.I336I Q00872 MYPC1_HUMAN myosin binding protein C, slow type 311 Ig-like C2-type 2. 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 TCCTGTTTATCAATAACTGTC 0.348000 32 36 0 0 0.000491102 0 0 BPIFC 254240 broad.mit.edu 37 22 32831715 32831715 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:32831715G>A ENST00000397452.1 - 9 1010 c.900C>T c.(898-900)ttC>ttT p.F300F BPIFC_ENST00000534972.1_Silent_p.F24F|BPIFC_ENST00000300399.3_Silent_p.F300F|BPIFC_ENST00000432451.2_Silent_p.F114F Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 300 extracellular region lipopolysaccharide binding|phospholipid binding GAGTGACATTGAAAACCCCAG 0.433000 8 50 0 0 0.000673444 0 0 TTN 7273 broad.mit.edu 37 2 179413186 179413186 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179413186C>T ENST00000589042.1 - 339 93391 c.93167G>A c.(93166-93168)cGa>cAa p.R31056Q TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21991Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28488Q|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22183Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22116Q|TTN_ENST00000591111.1_Missense_Mutation_p.R29415Q|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29415 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) ACTTGCCTCTCGTTTCTCTAC 0.493000 29 90 0 0 0.00106085 0 0 AOC2 314 broad.mit.edu 37 17 40996824 40996824 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:40996824C>T ENST00000253799.3 + 1 208 c.181C>T c.(181-183)Cga>Tga p.R61* AOC2_ENST00000452774.2_Nonsense_Mutation_p.R61* NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 61 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) AGACCTGAGCCGAGAGGAGTT 0.657000 111 152 0 0 0.000781405 0 0 NOC2L 26155 broad.mit.edu 37 1 892521 892521 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:892521C>T ENST00000327044.6 - 3 361 c.312G>A c.(310-312)gaG>gaA p.E104E NOC2L_ENST00000487214.1_5'UTR NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 104 Poly-Glu. nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CCTCTTCCTCCTCAGAGCTGT 0.587000 48 178 0 0 0.000781405 0 0 RP1L1 94137 broad.mit.edu 37 8 10470209 10470209 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:10470209G>A ENST00000382483.3 - 4 1622 c.1399C>T c.(1399-1401)Cca>Tca p.P467S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 467 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) GAGGACTCTGGCTCCGAGCCC 0.716000 33 68 0 0 0.00148497 0 0 PPIG 9360 broad.mit.edu 37 2 170492625 170492625 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:170492625C>T ENST00000260970.3 + 13 1261 c.1041C>T c.(1039-1041)tcC>tcT p.S347S PPIG_ENST00000448752.2_Silent_p.S347S|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Silent_p.S332S NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 347 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) CTTCCAGATCCAGATCAAGGG 0.443000 20 43 0 0 0.000586117 0 0 SP100 6672 broad.mit.edu 37 2 231380145 231380145 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:231380145C>T ENST00000264052.5 + 25 2785 c.2430C>T c.(2428-2430)acC>acT p.T810T SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 810 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 p.T810T(1) 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) GGAATAACACCGCTGCAGCTG 0.428000 13 37 0 0 0.000219431 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496630 20496630 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:20496630G>A ENST00000555186.1 + 0 683 NR_038836.1 TCATGAAGGGGAAGCCGAGGG 0.438000 8 98 0 0 0.000442599 0 0 TRPC7 57113 broad.mit.edu 37 5 135692539 135692539 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:135692539G>A ENST00000513104.1 - 2 819 c.537C>T c.(535-537)atC>atT p.I179I TRPC7_ENST00000426057.2_Silent_p.I179I|TRPC7_ENST00000355180.3_Silent_p.I179I NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 179 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGATGTGCACGATCTCATACT 0.607000 30 146 0 0 0.000491102 0 0 LINC00207 388910 broad.mit.edu 37 22 44966433 44966433 + RNA SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:44966433A>C ENST00000605505.1 + 0 211 NR_028409.1 lung(3) 3 GGATCCAATCACTGAACCAGA 0.483000 14 34 0 0 0.000566183 0 0 OR51S1 119692 broad.mit.edu 37 11 4869718 4869718 + Missense_Mutation SNP G G A rs115882083 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:4869718G>A ENST00000322101.2 - 1 796 c.721C>T c.(721-723)Cgc>Tgc p.R241C MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) GCCTTCCAGCGATCCTCTCTG 0.522000 8 44 0 0 0.000274275 0 0 CCDC61 729440 broad.mit.edu 37 19 46498721 46498721 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:46498721C>T ENST00000263284.2 + 2 119 c.119C>T c.(118-120)tCg>tTg p.S40L coiled-coil domain containing 61 endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) GCTGGAGCTTCGTCAGTTGAA 0.622000 13 14 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179468614 179468614 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:179468614C>T ENST00000589042.1 - 282 55024 c.54800G>A c.(54799-54801)gGa>gAa p.G18267E TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9202E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15699E|TTN_ENST00000342175.6_Missense_Mutation_p.G9394E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9327E|TTN_ENST00000591111.1_Missense_Mutation_p.G16626E|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16626 Fibronectin type-III 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) TATGGGATCTCCTGCAACCTC 0.408000 10 19 0 0 0.000442599 0 0 FBN3 84467 broad.mit.edu 37 19 8193952 8193952 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:8193952G>A ENST00000600128.1 - 18 2670 c.2256C>T c.(2254-2256)ccC>ccT p.P752P FBN3_ENST00000601739.1_Silent_p.P752P|FBN3_ENST00000270509.2_Silent_p.P752P Q75N90 FBN3_HUMAN fibrillin 3 752 EGF-like 9; 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 GGAAGCCGGGGGGGCAGGAGC 0.602000 22 77 0 0 0.00188189 0 0 CHST5 23563 broad.mit.edu 37 16 75563795 75563795 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:75563795C>T ENST00000336257.3 - 3 1882 c.488G>A c.(487-489)gGc>gAc p.G163D CHST5_ENST00000541075.1_Missense_Mutation_p.G169D|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 163 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 GCTGATGGTGCCTCGGGGAAA 0.652000 54 92 0 0 0.000781405 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687498 27687498 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:27687498C>T ENST00000438700.3 - 4 2146 c.2029G>A c.(2029-2031)Gaa>Aaa p.E677K NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 677 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GTACAGTTTTCCAGTTTTTGC 0.303000 10 29 0 0 0.000978159 0 0 FGF12 2257 broad.mit.edu 37 3 191888415 191888415 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:191888415C>T ENST00000454309.2 - 4 1270 c.445G>A c.(445-447)Gaa>Aaa p.E149K FGF12_ENST00000450716.1_Missense_Mutation_p.E87K|FGF12_ENST00000264730.3_Missense_Mutation_p.E87K|FGF12_ENST00000445105.1_Missense_Mutation_p.E87K|FGF12_ENST00000430714.1_Missense_Mutation_p.E50K NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 149 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding p.E149K(1) endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) AACACAGATTCCTTGAATTTG 0.368000 33 153 0 0 0.000692331 0 0 OR4N2 390429 broad.mit.edu 37 14 20295759 20295759 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:20295759C>T ENST00000315947.1 + 1 152 c.152C>T c.(151-153)tCa>tTa p.S51L OR4N2_ENST00000568211.1_Missense_Mutation_p.S51L NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ACCATAAAGTCAGACCCTGGG 0.468000 31 168 0 0 0.00058488 0 0 C19orf44 84167 broad.mit.edu 37 19 16611602 16611602 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:16611602G>A ENST00000221671.3 + 2 155 c.e2-1 CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Splice_Site NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 TTCCTCCACAGAATGGCTTCT 0.443000 72 179 0 0 0.000781405 0 0 MYH6 4624 broad.mit.edu 37 14 23857379 23857379 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:23857379C>T ENST00000405093.3 - 30 4414 c.4344G>A c.(4342-4344)caG>caA p.Q1448Q MYH6_ENST00000356287.3_Silent_p.Q1448Q NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1448 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CAAAGTTTCTCTGCTTCTTGT 0.587000 27 131 0 0 0.000878237 0 0 TRPC4 7223 broad.mit.edu 37 13 38320295 38320295 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:38320295C>T ENST00000379705.3 - 3 1533 c.676G>A c.(676-678)Gaa>Aaa p.E226K TRPC4_ENST00000358477.2_Missense_Mutation_p.E226K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E226K|TRPC4_ENST00000426868.2_Missense_Mutation_p.E226K|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.E226K|TRPC4_ENST00000379673.2_Missense_Mutation_p.E226K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E226K Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 226 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) TCCTGAAGTTCCCAACTTAAC 0.478000 9 21 0 0 0.000274275 0 0 PRSS12 8492 broad.mit.edu 37 4 119203159 119203159 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:119203159C>T ENST00000296498.3 - 13 2842 c.2560G>A c.(2560-2562)Gat>Aat p.D854N NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 854 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 CCAGGAGAATCCTTGACTCCA 0.498000 8 68 0 0 0.000157383 0 0 FOXA2 3170 broad.mit.edu 37 20 22563420 22563420 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:22563420G>A ENST00000419308.2 - 2 644 c.442C>T c.(442-444)Ccc>Tcc p.P148S FOXA2_ENST00000377115.4_Missense_Mutation_p.P148S|FOXA2_ENST00000319993.4_Missense_Mutation_p.P154S NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 148 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) TAGGTCTTGGGGTCGCGGGCG 0.677000 29 102 0 0 0.000953801 0 0 PDE3A 5139 broad.mit.edu 37 12 20790115 20790115 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:20790115C>T ENST00000359062.3 + 9 2123 c.2083C>T c.(2083-2085)Cca>Tca p.P695S PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 695 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TTGGAATTTTCCAATTTTTGA 0.333000 10 17 0 0 0.00185496 0 0 C7 730 broad.mit.edu 37 5 40936505 40936505 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:40936505G>A ENST00000313164.9 + 5 705 c.346G>A c.(346-348)Gaa>Aaa p.E116K NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 116 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CAGTGCTGATGAAGACAGATG 0.453000 5 20 0 0 0.000602214 0 0 MUC17 140453 broad.mit.edu 37 7 100681981 100681981 + Silent SNP C C G rs148310097 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:100681981C>G ENST00000306151.4 + 3 7348 c.7284C>G c.(7282-7284)gtC>gtG p.V2428V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2428 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) GCACACCTGTCACCACTTCTA 0.522000 6 265 0 0 0.00198382 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407442 1407442 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:1407442C>T ENST00000381524.3 + 5 436 c.250C>T c.(250-252)Cgt>Tgt p.R84C CSF2RA_ENST00000355432.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R84C|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R84C|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R84C|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R84C|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R84C P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 84 extracellular region|integral to plasma membrane cytokine receptor activity p.R84C(3) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 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) Sargramostim(DB00020) GTGCACATTTCGTGAAATTTG 0.428000 80 396 0 0 0.000781405 0 0 MUT 4594 broad.mit.edu 37 6 49403246 49403246 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:49403246G>A ENST00000274813.3 - 12 2174 c.2047C>T c.(2047-2049)Cct>Tct p.P683S NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 683 B12-binding. fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATGAGTTCAGGAACTAGGGTT 0.483000 7 14 0 0 0.00198382 0 0 GSR 2936 broad.mit.edu 37 8 30537136 30537136 + Silent SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:30537136A>T ENST00000221130.5 - 13 1560 c.1470T>A c.(1468-1470)ggT>ggA p.G490G GSR_ENST00000537535.1_Silent_p.G408G|GSR_ENST00000414019.1_Silent_p.G447G|GSR_ENST00000541648.1_Silent_p.G437G|GSR_ENST00000546342.1_Silent_p.G461G NM_000637.3|NM_001195102.1|NM_001195103.1 NP_000628.2|NP_001182031.1|NP_001182032.1 P00390 GSHR_HUMAN glutathione reductase 490 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 23 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) CAACAGCAAAACCCTGCAGCA 0.443000 10 69 0 0 0.00185496 0 0 WDR86 349136 broad.mit.edu 37 7 151093146 151093146 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:151093146G>A ENST00000334493.6 - 3 872 c.442C>T c.(442-444)Ccg>Tcg p.P148S WDR86_ENST00000477459.1_Missense_Mutation_p.P20S|WDR86_ENST00000469830.2_Missense_Mutation_p.P148S NM_198285.2 NP_938026.2 Q86TI4 WDR86_HUMAN WD repeat domain 86 148 breast(1)|endometrium(2)|kidney(1)|lung(6) 10 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGTCCCACGGGGCAGAGTAG 0.692000 12 20 0 0 0.00185496 0 0 SPEG 10290 broad.mit.edu 37 2 220350134 220350134 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:220350134C>T ENST00000312358.7 + 31 7808 c.7676C>T c.(7675-7677)tCg>tTg p.S2559L AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2559 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AAGGGGTTATCGCCACCAAAC 0.617000 28 89 0 0 0.00106085 0 0 FAM105A 54491 broad.mit.edu 37 5 14608964 14608964 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:14608964C>T ENST00000274217.3 + 7 855 c.735C>T c.(733-735)ttC>ttT p.F245F NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 245 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) CTTTAAAGTTCATCATGCTGT 0.358000 7 62 0 0 0.00198382 0 0 CXorf22 170063 broad.mit.edu 37 X 35944269 35944269 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:35944269G>A ENST00000297866.5 + 2 451 c.385G>A c.(385-387)Gaa>Aaa p.E129K NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 129 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 TAAAACAACAGAAATTCCTCT 0.323000 8 11 0 0 0.000157383 0 0 GADL1 339896 broad.mit.edu 37 3 30769839 30769839 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:30769839C>T ENST00000282538.5 - 15 1611 c.1461G>A c.(1459-1461)cgG>cgA p.R487R GADL1_ENST00000498387.1_5'UTR NM_207359.2 NP_997242.2 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 487 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) TGACCTTTCCCCGGTGCGGCT 0.557000 17 40 0 0 0.00121646 0 0 PARP9 83666 broad.mit.edu 37 3 122271276 122271276 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:122271276G>A ENST00000462315.1 - 5 1389 c.1096C>T c.(1096-1098)Cct>Tct p.P366S PARP9_ENST00000360356.2_Missense_Mutation_p.P401S|PARP9_ENST00000477522.2_Missense_Mutation_p.P366S|PARP9_ENST00000471785.1_Missense_Mutation_p.P366S|PARP9_ENST00000492382.1_Intron NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 401 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) TGAGGTTTAGGAAATTCTGAA 0.318000 18 38 0 0 0.00074312 0 0 PSMA4 5685 broad.mit.edu 37 15 78834883 78834883 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:78834883G>A ENST00000044462.7 + 4 255 c.105G>A c.(103-105)ttG>ttA p.L35L PSMA4_ENST00000559082.1_Silent_p.L35L|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000558281.1_Silent_p.L35L|PSMA4_ENST00000560217.1_Intron|PSMA4_ENST00000558341.1_Silent_p.L35L|PSMA4_ENST00000557929.1_3'UTR NM_002789.4 NP_002780.1 P25789 PSA4_HUMAN proteasome (prosome, macropain) subunit, alpha type, 4 35 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, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 GCACCTGTTTGGGAATTTTAG 0.403000 51 213 0 0 0.000781405 0 0 SCN5A 6331 broad.mit.edu 37 3 38671899 38671899 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:38671899C>T ENST00000413689.1 - 3 488 c.295G>A c.(295-297)Ggc>Agc p.G99S SCN5A_ENST00000333535.4_Missense_Mutation_p.G99S|SCN5A_ENST00000450102.2_Missense_Mutation_p.G99S|SCN5A_ENST00000423572.2_Missense_Mutation_p.G99S|SCN5A_ENST00000425664.1_Missense_Mutation_p.G99S|SCN5A_ENST00000414099.2_Missense_Mutation_p.G99S|SCN5A_ENST00000455624.2_Missense_Mutation_p.G99S|SCN5A_ENST00000451551.2_Missense_Mutation_p.G99S|SCN5A_ENST00000449557.2_Missense_Mutation_p.G99S|SCN5A_ENST00000443581.1_Missense_Mutation_p.G99S NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 99 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) ATGGTCTTGCCTTTATTCAGT 0.522000 38 123 0 0 0.000781405 0 0 ERCC3 2071 broad.mit.edu 37 2 128051098 128051098 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:128051098G>A ENST00000493187.2 - 2 496 c.33C>T c.(31-33)ccC>ccT p.P11P ERCC3_ENST00000285398.2_Silent_p.P75P P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 75 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|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 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) CCACCCAGAGGGGCCTGGAGG 0.577000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 17 27 0 0 0.00121646 0 0 NRK 203447 broad.mit.edu 37 X 105179275 105179275 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:105179275G>A ENST00000428173.2 + 21 3919 c.3616G>A c.(3616-3618)Gaa>Aaa p.E1206K NRK_ENST00000243300.9_Missense_Mutation_p.E1205K Q7Z2Y5 NRK_HUMAN Nik related kinase 1205 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CCACATGTATGAAAAGGAGTT 0.383000 HNSCC(51;0.14) 5 13 0 0 0.000602214 0 0 DCC 1630 broad.mit.edu 37 18 51025846 51025846 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:51025846G>A ENST00000442544.2 + 27 4693 c.4077G>A c.(4075-4077)ccG>ccA p.P1359P DCC_ENST00000581580.1_Silent_p.P992P|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1359 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) CAATAGAACCGAAAGTCCCTT 0.448000 16 68 0 0 0.00152264 0 0 CLMN 79789 broad.mit.edu 37 14 95670379 95670379 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:95670379G>A ENST00000298912.4 - 9 1420 c.1307C>T c.(1306-1308)cCt>cTt p.P436L NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 436 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) ACTGCAGAAAGGATCCTTGTA 0.478000 23 83 0 0 0.000586117 0 0 SLC15A1 6564 broad.mit.edu 37 13 99362121 99362121 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:99362121G>A ENST00000376503.5 - 12 1000 c.945_splice c.e12+1 p.I315_splice NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 315 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) TCAAACTTACGATTTTCCCGG 0.378000 18 61 0 0 0.00229938 0 0 SEMA3D 223117 broad.mit.edu 37 7 84685101 84685101 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:84685101G>A ENST00000284136.6 - 7 836 c.793C>T c.(793-795)Cgt>Tgt p.R265C SEMA3D_ENST00000444867.1_Missense_Mutation_p.R265C NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 265 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GATGATTCACGAAAGAAGAAA 0.318000 21 64 0 0 0.00188189 0 0 MYLK3 91807 broad.mit.edu 37 16 46781861 46781861 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:46781861G>A ENST00000394809.4 - 1 360 c.245C>T c.(244-246)cCc>cTc p.P82L MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 82 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GTCAATGTGGGGAACCCCATC 0.706000 10 11 0 0 0.000673444 0 0 CCR5 1234 broad.mit.edu 37 3 46415098 46415098 + Silent SNP G G A rs147615392 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:46415098G>A ENST00000343801.4 + 3 1062 c.705G>A c.(703-705)agG>agA p.R235R CCR5_ENST00000445772.1_Silent_p.R235R|CCR5_ENST00000292303.4_Silent_p.R235R|RP11-24F11.2_ENST00000451485.1_RNA NM_000579.3 NP_000570.1 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 (gene/pseudogene) 235 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) GGGCTGTGAGGCTTATCTTCA 0.473000 102 186 0 0 0.000781405 0 0 USP8 9101 broad.mit.edu 37 15 50782635 50782635 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:50782635C>T ENST00000433963.1 + 15 2647 c.2147C>T c.(2146-2148)tCc>tTc p.S716F USP8_ENST00000396444.3_Missense_Mutation_p.S716F|USP8_ENST00000307179.4_Missense_Mutation_p.S716F|USP8_ENST00000425032.3_Missense_Mutation_p.S610F NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 716 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) CTGAAGCGCTCCTACTCCTCC 0.483000 19 65 0 0 0.000586117 0 0 RBMS1 5937 broad.mit.edu 37 2 161143583 161143583 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:161143583G>A ENST00000348849.3 - 7 1083 c.653C>T c.(652-654)cCt>cTt p.P218L RBMS1_ENST00000409972.1_Missense_Mutation_p.P185L|RBMS1_ENST00000409289.2_Missense_Mutation_p.P185L|RBMS1_ENST00000409075.1_Missense_Mutation_p.P185L|RBMS1_ENST00000392753.3_Missense_Mutation_p.P218L|RBMS1_ENST00000474820.1_5'UTR NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 218 RRM 2. DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) ACACAATAAAGGTTCTGTGGG 0.373000 22 152 0 0 0.000586117 0 0 SP100 6672 broad.mit.edu 37 2 231379974 231379974 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:231379974C>T ENST00000264052.5 + 25 2614 c.2259C>T c.(2257-2259)atC>atT p.I753I SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 753 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) AAACCTATATCCCTCCTAAAG 0.423000 6 35 0 0 0.00116845 0 0 KRT7 3855 broad.mit.edu 37 12 52642480 52642480 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:52642480C>T ENST00000331817.5 + 9 1529 c.1346C>T c.(1345-1347)cCt>cTt p.P449L KRT7_ENST00000552322.1_3'UTR NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 449 Tail. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) AGTGCGGGTCCTGGGCTCCTG 0.647000 25 28 0 0 0.000720815 0 0 HCFC1 3054 broad.mit.edu 37 X 153219121 153219121 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:153219121G>A ENST00000310441.7 - 18 5400 c.4434C>T c.(4432-4434)tcC>tcT p.S1478S HCFC1_ENST00000369984.4_Silent_p.S1478S|HCFC1_ENST00000354233.3_Silent_p.S1409S NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1478 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCGTCAGTGTGGAGGACACGG 0.672000 20 18 0 0 0.00188189 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883993 228883993 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:228883993G>A ENST00000392056.3 - 7 1623 c.1577C>T c.(1576-1578)tCg>tTg p.S526L SPHKAP_ENST00000344657.5_Missense_Mutation_p.S526L NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 526 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) GGGAAAGTTCGAGACCACTTG 0.502000 12 44 0 0 0.00136819 0 0 SSTR1 6751 broad.mit.edu 37 14 38679758 38679758 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:38679758C>T ENST00000267377.2 + 3 1781 c.1164C>T c.(1162-1164)atC>atT p.I388I NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 388 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 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;0.00444) Octreotide(DB00104) CGTCCCGGATCACGACGCTCT 0.667000 5 26 0 0 0.00116845 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558927 140558927 + Missense_Mutation SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140558927A>G ENST00000239444.2 + 1 1557 c.1312A>G c.(1312-1314)Atg>Gtg p.M438V NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 438 Cadherin 4. 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) ACATCTCAATATGACCGTGCT 0.552000 21 376 0 0 0.000375601 0 0 MYO15A 51168 broad.mit.edu 37 17 18040901 18040901 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:18040901C>T ENST00000205890.5 + 16 5121 c.4783C>T c.(4783-4785)Ctg>Ttg p.L1595L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1595 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) CTGGCAGGACCTGAGCTTCAA 0.542000 17 23 0 0 0.00121646 0 0 GATA1 2623 broad.mit.edu 37 X 48650317 48650317 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:48650317G>A ENST00000376670.3 + 3 398 c.287G>A c.(286-288)tGg>tAg p.W96* GATA1_ENST00000376665.3_Nonsense_Mutation_p.W96* NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 96 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V77_A120>A(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 TATGCCGGCTGGGCCTACGGC 0.602000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 6 9 0 0 0.00116845 0 0 LHX9 56956 broad.mit.edu 37 1 197889116 197889116 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:197889116C>T ENST00000367390.3 + 3 189 c.162C>T c.(160-162)ctC>ctT p.L54L LHX9_ENST00000337020.2_Silent_p.L63L|LHX9_ENST00000561173.1_Silent_p.L69L|LHX9_ENST00000367391.1_Silent_p.L54L|LHX9_ENST00000367387.4_Silent_p.L63L NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 63 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 TGCCCCCGCTCAGCCCGGAGA 0.662000 51 95 0 0 0.000781405 0 0 KIF13B 23303 broad.mit.edu 37 8 28950352 28950352 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:28950352G>A ENST00000524189.1 - 37 4406 c.4368C>T c.(4366-4368)tcC>tcT p.S1456S KIF13B_ENST00000404075.3_5'UTR NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1456 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) GCGGCACGAAGGATTTGACAG 0.478000 4 21 0 0 0.000602214 0 0 CCR1 1230 broad.mit.edu 37 3 46244938 46244938 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:46244938G>A ENST00000296140.3 - 2 992 c.867C>T c.(865-867)atC>atT p.I289I CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 289 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GCGTGTAGGCGATCACCTCCG 0.522000 7 17 0 0 0.000274275 0 0 NPAS4 266743 broad.mit.edu 37 11 66192547 66192547 + Missense_Mutation SNP G G A rs148679589 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:66192547G>A ENST00000311034.2 + 7 2362 c.2186G>A c.(2185-2187)gGg>gAg p.G729E NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 729 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 TGGGGCTCAGGGGATCCTGAG 0.582000 18 39 0 0 0.00121646 0 0 TCOF1 6949 broad.mit.edu 37 5 149771578 149771578 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:149771578C>T ENST00000451292.1 + 22 3575 c.3467C>T c.(3466-3468)gCc>gTc p.A1156V TCOF1_ENST00000439160.2_Missense_Mutation_p.A1081V|TCOF1_ENST00000445265.2_Missense_Mutation_p.A1042V|TCOF1_ENST00000323668.7_Missense_Mutation_p.A1042V|TCOF1_ENST00000377797.3_Missense_Mutation_p.A1119V|TCOF1_ENST00000504761.2_Missense_Mutation_p.A1119V|TCOF1_ENST00000513346.1_Missense_Mutation_p.A1118V Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 1119 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCGTCCAGGCCAAAGGGACC 0.537000 8 33 0 0 0.000274275 0 0 HIST1H4G 8369 broad.mit.edu 37 6 26247196 26247196 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:26247196G>A ENST00000244537.4 - 1 63 c.10C>T c.(10-12)Cgg>Tgg p.R4W NM_003547.2 NP_003538.1 Q99525 H4G_HUMAN histone cluster 1, H4g 4 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) GCCTTGCCCCGAACAGACATG 0.468000 26 24 0 0 0.00106085 0 0 TTC26 79989 broad.mit.edu 37 7 138872190 138872190 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:138872190C>T ENST00000464848.1 + 17 1538 c.1458C>T c.(1456-1458)gtC>gtT p.V486V TTC26_ENST00000495038.1_Silent_p.V355V|TTC26_ENST00000343187.4_Silent_p.V455V|TTC26_ENST00000478836.2_Silent_p.V379V|TTC26_ENST00000430935.1_Intron A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 486 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 CTTTTGATGTCCTTGAGAGGC 0.448000 57 118 0 0 0.000781405 0 0 FBN3 84467 broad.mit.edu 37 19 8176063 8176063 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:8176063C>T ENST00000600128.1 - 33 4503 c.4089G>A c.(4087-4089)agG>agA p.R1363R FBN3_ENST00000601739.1_Silent_p.R1363R|FBN3_ENST00000270509.2_Silent_p.R1363R Q75N90 FBN3_HUMAN fibrillin 3 1363 EGF-like 21; 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 CACATTCATCCCTGTCTGAGG 0.637000 14 33 0 0 0.000422831 0 0 RHAG 6005 broad.mit.edu 37 6 49604489 49604489 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:49604489C>T ENST00000371175.4 - 1 63 c.37G>A c.(37-39)Gaa>Aaa p.E13K RHAG_ENST00000229810.7_Missense_Mutation_p.E13K NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 13 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) ATGGCAATTTCCAGGACTATA 0.443000 22 52 0 0 0.00047179 0 0 KXD1 79036 broad.mit.edu 37 19 18679325 18679325 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:18679325G>A ENST00000602094.1 + 5 1875 c.415G>A c.(415-417)Gac>Aac p.D139N KXD1_ENST00000595073.1_Missense_Mutation_p.D139N|KXD1_ENST00000222307.4_Missense_Mutation_p.D139N|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000601630.1_Missense_Mutation_p.D158N|KXD1_ENST00000539106.1_Missense_Mutation_p.D139N|KXD1_ENST00000599319.1_Missense_Mutation_p.D139N|KXD1_ENST00000540691.1_Missense_Mutation_p.D139N Q9BQD3 CS050_HUMAN KxDL motif containing 1 139 protein binding CACCAGCCCCGACACCGTCTC 0.637000 53 146 0 0 0.000781405 0 0 SCN2A 6326 broad.mit.edu 37 2 166172255 166172255 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:166172255C>T ENST00000375437.2 + 11 1948 c.1658C>T c.(1657-1659)tCt>tTt p.S553F SCN2A_ENST00000375427.2_Missense_Mutation_p.S553F|SCN2A_ENST00000357398.3_Missense_Mutation_p.S553F|SCN2A_ENST00000283256.6_Missense_Mutation_p.S553F NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 553 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) AAGAGATTTTCTTCTCCACAC 0.338000 24 111 0 0 0.001512 0 0 ASIC1 41 broad.mit.edu 37 12 50453566 50453566 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:50453566G>A ENST00000228468.4 + 3 772 c.387G>A c.(385-387)atG>atA p.M129I ASIC1_ENST00000447966.2_Missense_Mutation_p.M129I NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 129 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) ACACACAGATGGCAGATGAAA 0.552000 11 10 0 0 0.000978159 0 0 OR56B1 387748 broad.mit.edu 37 11 5758004 5758004 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:5758004C>T ENST00000317121.3 + 1 324 c.258C>T c.(256-258)atC>atT p.I86I TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) CCACTACTATCATCCCTAAGA 0.468000 5 33 0 0 0.00116845 0 0 ADAM23 8745 broad.mit.edu 37 2 207460822 207460822 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:207460822G>A ENST00000264377.3 + 24 2623 c.2295G>A c.(2293-2295)ggG>ggA p.G765G ADAM23_ENST00000374416.1_Silent_p.G765G|ADAM23_ENST00000374415.3_Silent_p.G765G NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 765 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) CCTGGGCAGGGACAGATTGCA 0.433000 8 36 0 0 0.000442599 0 0 GPR98 84059 broad.mit.edu 37 5 90046500 90046500 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:90046500C>T ENST00000405460.2 + 53 11203 c.11107C>T c.(11107-11109)Cct>Tct p.P3703S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3703 Calx-beta 24. 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.P3703S(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) TGATATATTTCCTACCTCAGG 0.378000 33 111 0 0 0.00170553 0 0 ZNF528 84436 broad.mit.edu 37 19 52919834 52919834 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:52919834C>T ENST00000360465.3 + 7 2155 c.1729C>T c.(1729-1731)Cat>Tat p.H577Y ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 577 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) AAAGAAATCTCATGAGTGTAA 0.433000 20 35 0 0 0.00047179 0 0 NCMAP 400746 broad.mit.edu 37 1 24932131 24932131 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:24932131G>A ENST00000374392.2 + 4 268 c.202G>A c.(202-204)Ggc>Agc p.G68S NCMAP_ENST00000486262.1_3'UTR NM_001010980.4 NP_001010980.1 noncompact myelin associated protein AGAGCCCAAGGGCCCCAAGCC 0.597000 16 42 0 0 0.000566183 0 0 TNR 7143 broad.mit.edu 37 1 175304905 175304905 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:175304905G>A ENST00000367674.1 - 20 4281 c.3573C>T c.(3571-3573)ttC>ttT p.F1191F TNR_ENST00000263525.2_Silent_p.F1191F NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1191 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) CCCATTTCCGGAAAAAATCAG 0.428000 10 94 0 0 0.00185496 0 0 SLC35F6 54978 broad.mit.edu 37 2 27001223 27001223 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:27001223C>T ENST00000344420.5 + 6 1022 c.960C>T c.(958-960)atC>atT p.I320I SLC35F6_ENST00000416475.2_Silent_p.I237I|CENPA_ENST00000475662.1_Intron NM_017877.3 NP_060347.2 solute carrier family 35, member F6 CACTGCAGATCCTTGGCTTCC 0.637000 44 121 0 0 0.000781405 0 0 MEN1 4221 broad.mit.edu 37 11 64575105 64575105 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:64575105C>T ENST00000337652.1 - 4 1220 c.717G>A c.(715-717)atG>atA p.M239I MEN1_ENST00000443283.1_Missense_Mutation_p.M239I|MEN1_ENST00000315422.4_Missense_Mutation_p.M234I|MEN1_ENST00000377326.3_Missense_Mutation_p.M234I|MEN1_ENST00000312049.6_Missense_Mutation_p.M234I|MEN1_ENST00000377316.2_Missense_Mutation_p.M234I|MEN1_ENST00000394374.2_Missense_Mutation_p.M239I|MEN1_ENST00000377313.1_Missense_Mutation_p.M239I|MEN1_ENST00000394376.1_Missense_Mutation_p.M239I|MEN1_ENST00000377321.1_Missense_Mutation_p.M199I NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 239 Interaction with FANCD2. DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 ACGCCACCTCCATCTTGCGGT 0.567000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 49 88 0 0 0.000781405 0 0 PCSK5 5125 broad.mit.edu 37 9 78973755 78973755 + Silent SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:78973755C>A ENST00000545128.1 + 37 6038 c.5500C>A c.(5500-5502)Cgg>Agg p.R1834R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 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 CACAGTCTACCGGAAATTTAA 0.478000 10 102 0.000673444 0.00297962 0.000673444 1 0 ALMS1 7840 broad.mit.edu 37 2 73799546 73799546 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:73799546C>T ENST00000264448.6 + 16 10650 c.10539C>T c.(10537-10539)ttC>ttT p.F3513F ALMS1_ENST00000409009.1_Silent_p.F3471F NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3513 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GGAAAGATTTCTTTCAGCATC 0.373000 7 36 0 0 0.00198382 0 0 IGHV3-48 28424 broad.mit.edu 37 14 106994058 106994058 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:106994058G>A ENST00000390624.2 - 0 185 GAGTCTCAGGGACCCCCCAGG 0.577000 17 67 0 0 0.000566183 0 0 RNF103 7844 broad.mit.edu 37 2 86831623 86831623 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:86831623G>A ENST00000237455.4 - 4 2369 c.1401C>T c.(1399-1401)ttC>ttT p.F467F AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 467 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 CAATCGGGTGGAAGAGGTAGC 0.448000 11 41 0 0 0.00136819 0 0 CHRNB4 1143 broad.mit.edu 37 15 78922017 78922017 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:78922017C>T ENST00000261751.3 - 5 741 c.630G>A c.(628-630)agG>agA p.R210R CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 210 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GGTTCACTGTCCTTCTCCCTG 0.552000 23 109 0 0 0.00127121 0 0 STX5 6811 broad.mit.edu 37 11 62592967 62592967 + Silent SNP G G A rs146258093 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:62592967G>A ENST00000294179.3 - 6 621 c.468C>T c.(466-468)ttC>ttT p.F156F STX5_ENST00000394690.1_Silent_p.F102F|STX5_ENST00000377897.4_Silent_p.F156F|STX5_ENST00000541317.1_Silent_p.F60F NM_001244666.1|NM_003164.4 NP_001231595.1|NP_003155.2 Q13190 STX5_HUMAN syntaxin 5 156 intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 TGGCTCTCACGAAATCCTGGA 0.532000 36 72 0 0 0.000509022 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053788 95053788 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:95053788G>A ENST00000329597.7 + 3 299 c.89G>A c.(88-90)aGa>aAa p.R30K SERPINA5_ENST00000554866.1_Missense_Mutation_p.R30K|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R30K|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R30K NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 30 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) ATGAAGAAGAGAGTCGAGGAC 0.627000 9 29 0 0 0.000274275 0 0 C3orf22 152065 broad.mit.edu 37 3 126268807 126268807 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:126268807G>A ENST00000318225.2 - 4 708 c.330C>T c.(328-330)ttC>ttT p.F110F NM_152533.1 NP_689746.1 Q8N5N4 CC022_HUMAN chromosome 3 open reading frame 22 110 large_intestine(1)|lung(3)|ovary(2)|prostate(1) 7 GBM - Glioblastoma multiforme(114;0.147) GTTGTCTGGGGAAGCGGCGAC 0.622000 9 64 0 0 0.000978159 0 0 EIF2D 1939 broad.mit.edu 37 1 206785667 206785667 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:206785667G>A ENST00000271764.2 - 1 237 c.29C>T c.(28-30)tCc>tTc p.S10F EIF2D_ENST00000367114.3_Missense_Mutation_p.S10F NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D 10 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GGCCGTGTTGGACTTGACCCG 0.622000 10 91 0 0 0.000978159 0 0 CHPF 79586 broad.mit.edu 37 2 220405064 220405064 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:220405064G>A ENST00000243776.6 - 4 1617 c.1369C>T c.(1369-1371)Ccg>Tcg p.P457S CHPF_ENST00000535926.1_Missense_Mutation_p.P295S NM_024536.5 NP_078812.2 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 457 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CCCCGGGCCGGATCAAAGCGT 0.667000 27 70 0 0 0.000692331 0 0 XPR1 9213 broad.mit.edu 37 1 180804100 180804100 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:180804100G>A ENST00000367590.4 + 10 1423 c.1225G>A c.(1225-1227)Gac>Aac p.D409N XPR1_ENST00000367589.3_Missense_Mutation_p.D409N NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 409 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 GATACTGATGGACCTGGAATA 0.438000 17 45 0 0 0.00074312 0 0 RYR3 6263 broad.mit.edu 37 15 33835822 33835822 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:33835822G>A ENST00000389232.4 + 8 716 c.e8-1 RYR3_ENST00000415757.3_Splice_Site NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 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) TTCTCTTACAGGATACCTACT 0.398000 14 58 0 0 0.000308642 0 0 DSCAM 1826 broad.mit.edu 37 21 41516654 41516654 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:41516654G>A ENST00000400454.1 - 17 3500 c.3023C>T c.(3022-3024)cCc>cTc p.P1008L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1008 Fibronectin type-III 2. 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) ATGTTTCTTGGGAGCCTAAAC 0.443000 5 19 0 0 0.00198382 0 0 UBE3B 89910 broad.mit.edu 37 12 109928893 109928893 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:109928893C>T ENST00000342494.3 + 9 1269 c.674C>T c.(673-675)tCc>tTc p.S225F UBE3B_ENST00000280774.5_Missense_Mutation_p.S225F|UBE3B_ENST00000540230.1_3'UTR|UBE3B_ENST00000537063.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.S225F NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 225 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CCTTGTCTATCCAAAGGCACT 0.413000 29 51 0 0 0.000953801 0 0 CSMD2 114784 broad.mit.edu 37 1 34190148 34190148 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:34190148G>A ENST00000373381.4 - 18 3029 c.2853C>T c.(2851-2853)ttC>ttT p.F951F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 911 CUB 6. 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) GGCTCCACTGGAAGTTGGGCT 0.587000 11 32 0 0 0.00185496 0 0 NME9 347736 broad.mit.edu 37 3 138023816 138023816 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:138023816C>T ENST00000383180.2 - 10 744 c.507G>A c.(505-507)ctG>ctA p.L169L NME9_ENST00000333911.3_Silent_p.L230L|NME9_ENST00000484930.1_Silent_p.L167L|NME9_ENST00000317876.4_Silent_p.L169L|NME9_ENST00000536478.1_Silent_p.L169L|NME9_ENST00000341790.5_Silent_p.L167L NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 230 NDK. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity TGGTGAGGATCAGGAGGTGGC 0.602000 46 289 0 0 0.000781405 0 0 QSOX1 5768 broad.mit.edu 37 1 180151427 180151427 + Missense_Mutation SNP G G A rs148485913 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:180151427G>A ENST00000367602.3 + 6 799 c.725G>A c.(724-726)cGg>cAg p.R242Q QSOX1_ENST00000367600.5_Missense_Mutation_p.R242Q O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 242 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 CTGCTGTTCCGGAATGGCTCT 0.602000 53 105 0 0 0.000781405 0 0 COL28A1 340267 broad.mit.edu 37 7 7545698 7545698 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:7545698C>T ENST00000399429.3 - 11 1113 c.972_splice c.e11-1 p.G325_splice NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 325 Collagen-like 2. 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) CCAGTAATTCCCTGCTCCAGG 0.473000 10 72 0 0 0.000673444 0 0 ACCS 84680 broad.mit.edu 37 11 44104794 44104794 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:44104794T>C ENST00000263776.8 + 13 1621 c.1187T>C c.(1186-1188)cTt>cCt p.L396P NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 396 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 TCAGAAGAGCTTAGGGCATTG 0.562000 9 67 0 0 0.000442599 0 0 SULT1A2 6799 broad.mit.edu 37 16 28606886 28606886 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:28606886G>A ENST00000533150.1 - 2 1375 c.259C>T c.(259-261)Cca>Tca p.P87S SULT1A2_ENST00000335715.4_Missense_Mutation_p.P87S|SULT1A2_ENST00000395630.1_Missense_Mutation_p.P87S P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 87 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 GGAATCCCTGGGACTTTGAAC 0.587000 17 36 0 0 0.000958276 0 0 CPED1 79974 broad.mit.edu 37 7 120737752 120737752 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:120737752G>A ENST00000310396.5 + 6 1083 c.e6-1 CPED1_ENST00000423795.1_Splice_Site|CPED1_ENST00000450913.2_Splice_Site NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 AATCTTTTCAGAACTGCAACT 0.408000 10 59 0 0 0.00136819 0 0 ANKRD13A 88455 broad.mit.edu 37 12 110457005 110457005 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:110457005C>T ENST00000261739.4 + 6 772 c.606C>T c.(604-606)ttC>ttT p.F202F ANKRD13A_ENST00000550404.1_3'UTR NM_033121.1 NP_149112.1 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13A 202 endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1) 16 CCGAACGCTTCGACCTTTCCC 0.488000 43 59 0 0 0.000680045 0 0 KRTAP4-1 85285 broad.mit.edu 37 17 39340903 39340903 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:39340903G>A ENST00000398472.1 - 1 691 c.204C>T c.(202-204)gtC>gtT p.V68V Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 68 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. keratin filament kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) TCTGACAACAGACTGGGTGGC 0.642000 27 31 0 0 0.000878237 0 0 CLDN19 149461 broad.mit.edu 37 1 43203944 43203944 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:43203944C>T ENST00000296387.1 - 3 619 c.429G>A c.(427-429)ctG>ctA p.L143L CLDN19_ENST00000372539.3_Silent_p.L143L|CLDN19_ENST00000539749.1_Intron NM_001123395.1|NM_148960.2 NP_001116867.1|NP_683763.2 Q8N6F1 CLD19_HUMAN claudin 19 143 calcium-independent cell-cell adhesion|response to stimulus|visual perception basolateral plasma membrane|integral to membrane|tight junction identical protein binding breast(2)|large_intestine(1)|lung(2)|skin(1) 6 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCTGGGTCACCAGGGTGGCAT 0.602000 16 76 0 0 0.000958276 0 0 OR2F2 135948 broad.mit.edu 37 7 143633090 143633090 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:143633090G>A ENST00000408955.2 + 1 832 c.765G>A c.(763-765)acG>acA p.T255T NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 255 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) ACGGCACAACGATTTTCACTT 0.512000 24 79 0 0 0.00106085 0 0 RUNX1T1 862 broad.mit.edu 37 8 92998377 92998377 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:92998377G>A ENST00000523629.1 - 9 1708 c.1254C>T c.(1252-1254)ccC>ccT p.P418P RUNX1T1_ENST00000396218.1_Silent_p.P391P|RUNX1T1_ENST00000436581.2_Silent_p.P429P|RUNX1T1_ENST00000265814.3_Silent_p.P418P|RUNX1T1_ENST00000360348.2_Silent_p.P381P|RUNX1T1_ENST00000520724.1_Silent_p.P381P|RUNX1T1_ENST00000422361.2_Silent_p.P381P|RUNX1T1_ENST00000518844.1_Silent_p.P391P NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 418 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P418P(2)|p.P381P(2)|p.P429P(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CTGGGTTGACGGGACTCTGCT 0.453000 13 83 0 0 0.000422831 0 0 EXT2 2132 broad.mit.edu 37 11 44130795 44130795 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:44130795C>T ENST00000395673.3 + 3 743 c.687C>T c.(685-687)ccC>ccT p.P229P EXT2_ENST00000343631.3_Silent_p.P196P|EXT2_ENST00000533608.1_Silent_p.P196P|EXT2_ENST00000358681.4_Silent_p.P196P|EXT2_ENST00000529186.1_3'UTR NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 196 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 CTGGAGGTCCCCCAGATTATA 0.428000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 16 49 0 0 0.00121646 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981653 92981653 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:92981653G>A ENST00000268164.3 + 4 598 c.361G>A c.(361-363)Gat>Aat p.D121N ST8SIA2_ENST00000539113.1_Missense_Mutation_p.D100N NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 121 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) GAAGCCTGGAGATATTATTCA 0.443000 32 145 0 0 0.000692331 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69343208 69343208 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:69343208G>A ENST00000305363.4 + 8 893 c.829G>A c.(829-831)Gat>Aat p.D277N NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 277 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 ACATGACTATGATATTTCTCT 0.413000 32 138 0 0 0.000814825 0 0 FAT3 120114 broad.mit.edu 37 11 92088399 92088399 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:92088399C>T ENST00000298047.6 + 1 3138 c.3121C>T c.(3121-3123)Ccc>Tcc p.P1041S FAT3_ENST00000409404.2_Missense_Mutation_p.P1041S|FAT3_ENST00000525166.1_Missense_Mutation_p.P891S|FAT3_ENST00000541502.1_Missense_Mutation_p.P1041S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1041 Cadherin 9. 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) CCTCCACACTCCCTATTTCCC 0.502000 TCGA Ovarian(4;0.039) 76 130 0 0 0.000781405 0 0 LARS2 23395 broad.mit.edu 37 3 45461192 45461192 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:45461192C>T ENST00000415258.1 + 5 628 c.487C>T c.(487-489)Cgt>Tgt p.R163C LARS2_ENST00000265537.3_Missense_Mutation_p.R163C|LARS2_ENST00000414984.1_Missense_Mutation_p.R120C Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 163 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) ACAGCTTGATCGTCTGGGCCT 0.418000 19 65 0 0 0.00047179 0 0 CDHR2 54825 broad.mit.edu 37 5 176016373 176016373 + Silent SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:176016373A>G ENST00000510636.1 + 23 3325 c.3051A>G c.(3049-3051)caA>caG p.Q1017Q CDHR2_ENST00000506348.1_Silent_p.Q1017Q|CDHR2_ENST00000261944.5_Silent_p.Q1017Q NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1017 Cadherin 9. 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 GCACCTACCAAGTGACAGTCC 0.632000 14 110 0 0 0.000958276 0 0 ZNF846 162993 broad.mit.edu 37 19 9868406 9868406 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9868406G>A ENST00000397902.2 - 6 1760 c.1347C>T c.(1345-1347)gcC>gcT p.A449A ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 TACATTCACAGGCCTTTTCTC 0.428000 17 58 0 0 0.00121646 0 0 SYT10 341359 broad.mit.edu 37 12 33560283 33560283 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:33560283G>A ENST00000228567.3 - 3 814 c.518C>T c.(517-519)tCc>tTc p.S173F SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 173 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) TCTTCGGAAGGAACTGTGGCT 0.438000 27 59 0 0 0.001512 0 0 AKR1C3 8644 broad.mit.edu 37 10 5149666 5149666 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:5149666C>T ENST00000380554.3 + 9 1595 c.943C>T c.(943-945)Cct>Tct p.P315S AKR1C3_ENST00000605149.1_Missense_Mutation_p.P292S|AKR1C3_ENST00000439082.2_Missense_Mutation_p.P196S NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 315 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) TGCTAGCCACCCTAATTATCC 0.398000 9 45 0 0 0.000442599 0 0 MEGF6 1953 broad.mit.edu 37 1 3417559 3417559 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:3417559G>A ENST00000356575.4 - 20 2772 c.2546C>T c.(2545-2547)cCc>cTc p.P849L MEGF6_ENST00000294599.4_Missense_Mutation_p.P744L NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 849 EGF-like 14. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GGTCCACCCGGGGGCACAGCT 0.647000 23 60 0 0 0.00047179 0 0 CYP2C19 1557 broad.mit.edu 37 10 96580354 96580354 + Missense_Mutation SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:96580354A>C ENST00000371321.3 + 6 1003 c.921A>C c.(919-921)agA>agC p.R307S CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 307 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) CAACCCTGAGATATGCTCTCC 0.443000 22 97 0 0 0.000586117 0 0 SI 6476 broad.mit.edu 37 3 164773033 164773033 + Silent SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:164773033T>C ENST00000264382.3 - 13 1523 c.1461A>G c.(1459-1461)gcA>gcG p.A487A NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 487 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) TGCATTCATTTGCCCACCAAT 0.343000 HNSCC(35;0.089) 14 108 0 0 0.000566183 0 0 SBF1 6305 broad.mit.edu 37 22 50903087 50903087 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:50903087G>A ENST00000380817.2 - 14 1695 c.1512C>T c.(1510-1512)ccC>ccT p.P504P SBF1_ENST00000348911.6_Silent_p.P505P|SBF1_ENST00000390679.3_Silent_p.P504P NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 504 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GCCGGGGGAAGGGTCGGGGCA 0.677000 30 105 0 0 0.0024448 0 0 OR4K1 79544 broad.mit.edu 37 14 20404752 20404752 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:20404752G>A ENST00000285600.4 + 1 986 c.927G>A c.(925-927)tgG>tgA p.W309* NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 309 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) TGAACTCCTGGAAAAACTAGG 0.438000 8 38 0 0 0.000274275 0 0 ITFG3 83986 broad.mit.edu 37 16 314847 314847 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:314847C>T ENST00000399932.3 + 13 1936 c.1485C>T c.(1483-1485)atC>atT p.I495I ITFG3_ENST00000301678.3_Silent_p.I495I|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Silent_p.I495I|ITFG3_ENST00000450082.2_Silent_p.I495I|ITFG3_ENST00000442458.2_Intron Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 495 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) CCGCCTACATCCTTCTGACAG 0.672000 9 12 0 0 0.00136819 0 0 RSPO2 340419 broad.mit.edu 37 8 108913395 108913395 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:108913395C>T ENST00000276659.5 - 6 1260 c.640G>A c.(640-642)Gag>Aag p.E214K RSPO2_ENST00000517939.1_Missense_Mutation_p.E147K|RSPO2_ENST00000517781.1_Missense_Mutation_p.E150K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E150K NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 214 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) ttcctcttctccttcgccttT 0.423000 9 17 0 0 0.000442599 0 0 MUC16 94025 broad.mit.edu 37 19 9062015 9062015 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9062015C>T ENST00000397910.4 - 3 25634 c.25431G>A c.(25429-25431)gcG>gcA p.A8477A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8479 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 GCCTGGTGATCGCTTCAGTAG 0.498000 40 111 0 0 0.000781405 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106692152 106692152 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:106692152C>T ENST00000390607.2 - 0 51 CAGTGCTGATCACCAAGTGGA 0.502000 9 60 0 0 0.000442599 0 0 PROKR1 10887 broad.mit.edu 37 2 68882048 68882048 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:68882048G>A ENST00000303786.3 + 3 942 c.522G>A c.(520-522)atG>atA p.M174I PROKR1_ENST00000394342.2_Missense_Mutation_p.M174I Q8TCW9 PKR1_HUMAN prokineticin receptor 1 174 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GACCACGGATGAAGTGCCAAA 0.532000 24 55 0 0 0.00047179 0 0 GPR42 2866 broad.mit.edu 37 19 35863086 35863086 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:35863086C>T ENST00000454971.1 + 2 1026 c.825C>T c.(823-825)gtC>gtT p.V275V GPR42_ENST00000597214.1_Silent_p.V275V G protein-coupled receptor 42 (gene/pseudogene) endometrium(1)|kidney(1)|skin(2) 4 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) ACCCCTTTGTCTACTACTTCT 0.587000 22 47 0 0 0.00127121 0 0 DNAH8 1769 broad.mit.edu 37 6 38941535 38941535 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:38941535C>T ENST00000359357.3 + 82 12227 c.11973C>T c.(11971-11973)ttC>ttT p.F3991F DNAH8_ENST00000441566.1_Silent_p.F3955F 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 ATGATTCTTTCCGAGTATGGA 0.403000 13 31 0 0 0.000308642 0 0 RSPO2 340419 broad.mit.edu 37 8 109001376 109001376 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:109001376C>T ENST00000276659.5 - 3 811 c.191G>A c.(190-192)cGa>cAa p.R64Q RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 64 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CCCTTCTCTTCGAAGGAAGAA 0.478000 8 43 0 0 0.000442599 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23391164 23391164 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:23391164G>A ENST00000258729.3 - 6 799 c.443C>T c.(442-444)aCc>aTc p.T148I IGF2BP3_ENST00000491719.1_5'UTR NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 148 RRM 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 TACTTTCAAGGTGAAATTCTC 0.512000 11 54 0 0 0.000219431 0 0 PTPN7 5778 broad.mit.edu 37 1 202123316 202123316 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:202123316C>T ENST00000309017.3 - 6 1692 c.919G>A c.(919-921)Gag>Aag p.E307K PTPN7_ENST00000543735.1_Missense_Mutation_p.E31K|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Missense_Mutation_p.E202K|PTPN7_ENST00000367279.4_Missense_Mutation_p.E241K NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 202 Tyrosine-protein phosphatase. 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 CCTCCTACCTCCTTGCCCTCT 0.592000 17 31 0 0 0.000958276 0 0 IFNA16 3449 broad.mit.edu 37 9 21216880 21216880 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:21216880G>A ENST00000380216.1 - 1 430 c.425C>T c.(424-426)gCt>gTt p.A142V NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 142 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TTTCCTCACAGCCAGGATGGA 0.463000 48 84 0 0 0.000781405 0 0 DNAH9 1770 broad.mit.edu 37 17 11687023 11687023 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:11687023G>A ENST00000262442.3 + 40 7847 c.7779G>A c.(7777-7779)atG>atA p.M2593I DNAH9_ENST00000454412.2_Missense_Mutation_p.M2593I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2593 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) TTTCCTGTATGAACCCCACGG 0.522000 13 35 0 0 0.000308642 0 0 MYBPH 4608 broad.mit.edu 37 1 203140699 203140699 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:203140699G>A ENST00000255416.4 - 5 662 c.605C>T c.(604-606)cCt>cTt p.P202L NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 202 Ig-like C2-type 1. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) CTGAGGCTTAGGCTTCCCCTG 0.642000 6 16 0 0 0.000157383 0 0 AREL1 9870 broad.mit.edu 37 14 75151229 75151229 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:75151229G>A ENST00000356357.4 - 4 686 c.171C>T c.(169-171)ccC>ccT p.P57P AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 TGCAAGACCGGGGATCCAGGT 0.567000 7 20 0 0 0.000274275 0 0 GTSE1 51512 broad.mit.edu 37 22 46725290 46725290 + Silent SNP G G T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:46725290G>T ENST00000454366.1 + 11 2174 c.1962G>T c.(1960-1962)gcG>gcT p.A654A NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 635 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) AACCACTCGCGGTCACTCCAG 0.517000 12 330 0.000151284 0.000672414 0.00185496 1 0 CNGA1 1259 broad.mit.edu 37 4 47939399 47939399 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:47939399C>T ENST00000402813.3 - 10 1461 c.1319G>A c.(1318-1320)aGg>aAg p.R440K CNGA1_ENST00000420489.2_Missense_Mutation_p.R371K|CNGA1_ENST00000544810.1_Missense_Mutation_p.R371K|CNGA1_ENST00000358519.4_Missense_Mutation_p.R371K|CNGA1_ENST00000514170.1_Missense_Mutation_p.R371K P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 371 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 CTCAGAATCCCTCACGGGAGG 0.408000 26 107 0 0 0.001512 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20501698 20501698 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:20501698C>T ENST00000202677.6 - 31 4089 c.3947G>A c.(3946-3948)aGt>aAt p.S1316N NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1316 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 TATGTAGTGACTCTGTTGGGT 0.532000 19 83 0 0 0.00047179 0 0 MYOM2 9172 broad.mit.edu 37 8 2044149 2044149 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:2044149G>A ENST00000262113.4 + 18 2329 c.2188G>A c.(2188-2190)Ggc>Agc p.G730S MYOM2_ENST00000523438.1_Missense_Mutation_p.G155S NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 730 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CATGACCCTCGGCTGGAAGGT 0.572000 33 84 0 0 0.00128727 0 0 SEC14L4 284904 broad.mit.edu 37 22 30886159 30886159 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:30886159G>A ENST00000540456.1 - 13 1304 c.1111C>T c.(1111-1113)Ccc>Tcc p.P371S SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000392772.2_Silent_p.F346F|SEC14L4_ENST00000255858.7_Missense_Mutation_p.P386S Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 386 GOLD. 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) GCCTTGTCGGGAAGCAGCACC 0.587000 13 56 0 0 0.000219431 0 0 MAST2 23139 broad.mit.edu 37 1 46488611 46488611 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:46488611C>T ENST00000361297.2 + 13 1736 c.1453C>T c.(1453-1455)Cct>Tct p.P485S MAST2_ENST00000372008.1_Missense_Mutation_p.P370S|MAST2_ENST00000372009.2_Missense_Mutation_p.P415S NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 485 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CTGTGACAGTCCTGACACTCC 0.473000 39 75 0 0 0.000781405 0 0 CHID1 66005 broad.mit.edu 37 11 902221 902221 + Missense_Mutation SNP G G A rs139154177 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:902221G>A ENST00000449825.1 - 4 727 c.371C>T c.(370-372)aCg>aTg p.T124M CHID1_ENST00000323578.8_Missense_Mutation_p.T124M|CHID1_ENST00000454838.2_Missense_Mutation_p.T149M|CHID1_ENST00000336845.5_Missense_Mutation_p.T149M|CHID1_ENST00000429789.2_Missense_Mutation_p.T124M|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000528581.1_Missense_Mutation_p.T149M|CHID1_ENST00000323541.7_Missense_Mutation_p.T154M|CHID1_ENST00000436108.2_Missense_Mutation_p.T124M NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 124 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity p.T124M(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) GTGGAGGCCCGTGACCTCAAA 0.567000 12 59 0 0 0.000978159 0 0 CHL1 10752 broad.mit.edu 37 3 436434 436434 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:436434G>A ENST00000256509.2 + 24 3615 c.2973G>A c.(2971-2973)aaG>aaA p.K991K CHL1_ENST00000397491.2_Silent_p.K975K NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 975 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CTCCATCAAAGCCCAGCTGGC 0.393000 14 49 0 0 0.000219431 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29896986 29896986 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:29896986G>A ENST00000308713.5 - 8 1820 c.1293C>T c.(1291-1293)atC>atT p.I431I SEZ6L2_ENST00000350527.3_Silent_p.I361I|SEZ6L2_ENST00000346932.5_Silent_p.I317I|SEZ6L2_ENST00000537485.1_Silent_p.I387I NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 431 CUB 2. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGGCGTCACTGATGAGACCCC 0.592000 28 41 0 0 0.00106085 0 0 CASR 846 broad.mit.edu 37 3 121975937 121975937 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:121975937C>T ENST00000498619.1 + 3 633 c.195C>T c.(193-195)ttC>ttT p.F65F CASR_ENST00000296154.5_Silent_p.F65F|CASR_ENST00000490131.1_Silent_p.F65F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 65 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) GGTATAATTTCCGTGGGTTTC 0.443000 10 53 0 0 0.00136819 0 0 EMC7 56851 broad.mit.edu 37 15 34376656 34376656 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:34376656G>A ENST00000256545.4 - 5 716 c.608C>T c.(607-609)tCc>tTc p.S203F NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 CTCATGGTTGGAATTCAGCAT 0.408000 30 116 0 0 0.00178596 0 0 EML1 2009 broad.mit.edu 37 14 100402664 100402664 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:100402664C>T ENST00000262233.6 + 19 2227 c.2088C>T c.(2086-2088)atC>atT p.I696I EML1_ENST00000327921.9_Silent_p.I684I|EML1_ENST00000334192.4_Silent_p.I715I NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 696 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) ACTACGAAATCCTCTACTGTG 0.507000 11 27 0 0 0.000308642 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049378 36049378 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:36049378G>A ENST00000282507.3 - 4 557 c.456C>T c.(454-456)ttC>ttT p.F152F UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Silent_p.F118F|UGT3A2_ENST00000545528.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 152 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAGCAATCAGGAAAGGACAGT 0.408000 11 29 0 0 0.000673444 0 0 ACKR3 57007 broad.mit.edu 37 2 237489778 237489778 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:237489778C>T ENST00000272928.3 + 2 980 c.670C>T c.(670-672)Ccc>Tcc p.P224S NM_020311.2 NP_064707.1 atypical chemokine receptor 3 CTTTGCCGTTCCCTTCTCCAT 0.562000 31 79 0 0 0.001512 0 0 HCLS1 3059 broad.mit.edu 37 3 121350826 121350826 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:121350826C>T ENST00000314583.3 - 14 1419 c.1328G>A c.(1327-1329)gGa>gAa p.G443E HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.G406E NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 443 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CTCATCACTTCCCTCTGGGGA 0.522000 46 103 0 0 0.000781405 0 0 STEAP3 55240 broad.mit.edu 37 2 120003247 120003247 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:120003247C>T ENST00000354888.5 + 3 679 c.175C>T c.(175-177)Cgc>Tgc p.R59C STEAP3_ENST00000393106.2_Missense_Mutation_p.R59C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R59C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.R59C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R59C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R59C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R59C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R69C NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 59 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 GGTGGGGAGCCGCAACCCCAA 0.632000 18 34 0 0 0.000958276 0 0 FBXO28 23219 broad.mit.edu 37 1 224345355 224345355 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:224345355C>T ENST00000366862.5 + 5 1057 c.1014C>T c.(1012-1014)tcC>tcT p.S338S FBXO28_ENST00000424254.2_3'UTR NM_015176.3 NP_055991.1 Q9NVF7 FBX28_HUMAN F-box protein 28 338 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1) 10 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) CCTCAGGGTCCGGGCAGAATG 0.458000 15 99 0 0 0.000219431 0 0 GEMIN5 25929 broad.mit.edu 37 5 154308219 154308219 + Splice_Site SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:154308219C>T ENST00000285873.7 - 6 857 c.781_splice c.e6-1 p.G261_splice NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 261 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) AATCATCACCCCTGCAGATTA 0.468000 8 34 0 0 0.000673444 0 0 PTPRE 5791 broad.mit.edu 37 10 129861350 129861350 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:129861350C>T ENST00000254667.3 + 10 908 c.629C>T c.(628-630)cCc>cTc p.P210L PTPRE_ENST00000306042.5_Missense_Mutation_p.P152L|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000419012.2_Missense_Mutation_p.P210L NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 210 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CACACAGGTCCCAAACAGGAA 0.522000 14 56 0 0 0.000566183 0 0 KLHL1 57626 broad.mit.edu 37 13 70275873 70275873 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr13:70275873C>T ENST00000377844.4 - 11 2967 c.2208G>A c.(2206-2208)ggG>ggA p.G736G KLHL1_ENST00000545028.1_Silent_p.G543G NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 736 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CACCTGCTCTCCCAATATTCA 0.303000 7 34 0 0 0.000274275 0 0 RILPL2 196383 broad.mit.edu 37 12 123907693 123907693 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:123907693G>A ENST00000280571.8 - 3 799 c.503C>T c.(502-504)cCa>cTa p.P168L NM_145058.1 NP_659495.1 Q969X0 RIPL2_HUMAN Rab interacting lysosomal protein-like 2 168 cytosol|plasma membrane identical protein binding endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168) TTCTCTTGGTGGAATCAGGCC 0.398000 35 98 0 0 0.00058488 0 0 RBFOX1 54715 broad.mit.edu 37 16 7629803 7629803 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:7629803G>A ENST00000340209.4 + 3 607 c.310G>A c.(310-312)Gat>Aat p.D104N RBFOX1_ENST00000436368.2_Missense_Mutation_p.D119N|RBFOX1_ENST00000547338.1_Missense_Mutation_p.D99N|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Missense_Mutation_p.D142N|RBFOX1_ENST00000552089.1_Missense_Mutation_p.D134N|RBFOX1_ENST00000355637.4_Missense_Mutation_p.D119N|RBFOX1_ENST00000550418.1_Missense_Mutation_p.D99N|RBFOX1_ENST00000553186.1_Missense_Mutation_p.D99N|RBFOX1_ENST00000311745.5_Missense_Mutation_p.D119N|RBFOX1_ENST00000422070.4_Missense_Mutation_p.D142N Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 99 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 AGCACCGACGGATGGCCAGCC 0.527000 12 27 0 0 0.00185496 0 0 ANO3 63982 broad.mit.edu 37 11 26646015 26646015 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:26646015G>A ENST00000256737.3 + 18 2695 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K ANO3_ENST00000537978.1_Missense_Mutation_p.E599K|ANO3_ENST00000525139.1_Missense_Mutation_p.E599K|ANO3_ENST00000531568.1_Missense_Mutation_p.E469K NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 615 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 ACAGGCTTATGAAAAAATTGC 0.318000 22 75 0 0 0.000878237 0 0 FCHO1 23149 broad.mit.edu 37 19 17893836 17893836 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:17893836C>T ENST00000594202.1 + 24 2227 c.1948C>T c.(1948-1950)Cga>Tga p.R650* FCHO1_ENST00000389133.4_Nonsense_Mutation_p.R650*|FCHO1_ENST00000596951.1_Nonsense_Mutation_p.R650*|FCHO1_ENST00000539407.1_Nonsense_Mutation_p.R650*|FCHO1_ENST00000252771.7_Nonsense_Mutation_p.R650*|FCHO1_ENST00000600676.1_Nonsense_Mutation_p.R650*|FCHO1_ENST00000596536.1_Nonsense_Mutation_p.R650*|FCHO1_ENST00000597512.1_Nonsense_Mutation_p.R657*|FCHO1_ENST00000595033.1_Nonsense_Mutation_p.R600* NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 650 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CTGCCTGGCTCGAGTAACTGG 0.612000 13 42 0 0 0.000422831 0 0 ZNF148 7707 broad.mit.edu 37 3 124951657 124951657 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:124951657G>A ENST00000360647.4 - 9 2398 c.1913C>T c.(1912-1914)cCa>cTa p.P638L ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.P638L|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.P638L|ZNF148_ENST00000484491.1_Missense_Mutation_p.P638L|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 638 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TGGCTGATTTGGGAGGGTCTG 0.453000 22 122 0 0 0.000586117 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67214392 67214392 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:67214392C>T ENST00000290881.7 - 3 1048 c.122G>A c.(121-123)tGg>tAg p.W41* KIAA0895L_ENST00000563902.1_Nonsense_Mutation_p.W41*|KIAA0895L_ENST00000561621.1_Nonsense_Mutation_p.W41*|KIAA0895L_ENST00000563831.2_Intron Q68EN5 K895L_HUMAN KIAA0895-like 41 Pro-rich. breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 GGACTGAGACCAGGGGTACAG 0.677000 20 34 0 0 0.00121646 0 0 MUC16 94025 broad.mit.edu 37 19 9091470 9091470 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:9091470C>T ENST00000397910.4 - 1 548 c.345G>A c.(343-345)agG>agA p.R115R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 115 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 CAGGGTAGTTCCTAGAGGGAG 0.502000 36 85 0 0 0.00195071 0 0 PPEF2 5470 broad.mit.edu 37 4 76812837 76812837 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:76812837G>A ENST00000286719.7 - 4 561 c.205C>T c.(205-207)Ctc>Ttc p.L69F NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 69 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGATCCATGAGATAGCTGAAG 0.507000 43 191 0 0 0.000781405 0 0 DOCK7 85440 broad.mit.edu 37 1 63044523 63044523 + Silent SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:63044523A>C ENST00000251157.5 - 17 2019 c.1986T>G c.(1984-1986)ccT>ccG p.P662P DOCK7_ENST00000340370.5_Silent_p.P662P NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 662 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GTGTTTCAAGAGGAGTATTTT 0.303000 33 164 0 0 0.00128727 0 0 TGM3 7053 broad.mit.edu 37 20 2320599 2320599 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:2320599G>A ENST00000381458.5 + 12 1963 c.1900G>A c.(1900-1902)Gga>Aga p.G634R NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 634 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.L630fs*5(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) GATGGTGGAGGGAAGCGGCCT 0.647000 13 27 0 0 0.00185496 0 0 KDM3B 51780 broad.mit.edu 37 5 137727023 137727023 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:137727023C>T ENST00000314358.5 + 8 1902 c.1702C>T c.(1702-1704)Ctg>Ttg p.L568L KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Silent_p.L224L NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 568 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 GAGCTCAGGCCTGTGTAAAGG 0.512000 15 35 0 0 0.000422831 0 0 DUSP27 92235 broad.mit.edu 37 1 167097732 167097732 + Nonsense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:167097732A>T ENST00000361200.2 + 6 3530 c.3364A>T c.(3364-3366)Aga>Tga p.R1122* DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.R1122*|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.R1122* Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1122 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCAGTATCGGAGAAGCACTGA 0.517000 13 21 0 0 0.00185496 0 0 MTPAP 55149 broad.mit.edu 37 10 30615522 30615522 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:30615522G>A ENST00000358107.4 - 6 1212 c.1213C>T c.(1213-1215)Cct>Tct p.P405S MTPAP_ENST00000263063.3_Missense_Mutation_p.P275S|MTPAP_ENST00000488290.1_5'UTR Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 275 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 CTTTCTGAAGGAACATTTTTC 0.348000 33 96 0 0 0.0024448 0 0 ALKBH1 8846 broad.mit.edu 37 14 78170753 78170753 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:78170753G>A ENST00000216489.3 - 2 266 c.251C>T c.(250-252)cCc>cTc p.P84L ALKBH1_ENST00000554097.1_5'UTR NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 84 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CTTGCTGACGGGCTGAAGACC 0.443000 20 130 0 0 0.000720815 0 0 PDGFD 80310 broad.mit.edu 37 11 103780454 103780454 + Missense_Mutation SNP C C T rs146343067 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:103780454C>T ENST00000302251.5 - 7 1514 c.1063G>A c.(1063-1065)Gat>Aat p.D355N PDGFD_ENST00000393158.2_Missense_Mutation_p.D361N NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 361 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) CAGATACAATCACATCGTTCA 0.458000 46 81 0 0 0.000781405 0 0 CYP2D7 1564 broad.mit.edu 37 22 42538831 42538831 + RNA SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:42538831A>T ENST00000358097.4 - 0 488 CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 GTGGACACGGAGAAGCGCCTC 0.692000 5 29 0 0 0.00116845 0 0 CD163L1 283316 broad.mit.edu 37 12 7522042 7522042 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:7522042C>T ENST00000313599.3 - 15 4007 c.3950G>A c.(3949-3951)gGa>gAa p.G1317E CD163L1_ENST00000416109.2_Missense_Mutation_p.G1327E|CD163L1_ENST00000396630.1_Missense_Mutation_p.G1317E Q9NR16 C163B_HUMAN CD163 molecule-like 1 1317 SRCR 12. 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 TGACTCATTTCCTTTGCACCG 0.557000 26 55 0 0 0.000586117 0 0 DNAH2 146754 broad.mit.edu 37 17 7722593 7722593 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:7722593G>A ENST00000572933.1 + 72 12342 c.10882G>A c.(10882-10884)Gac>Aac p.D3628N DNAH2_ENST00000389173.2_Missense_Mutation_p.D3628N Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3628 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) GGGCTGCATCGACCCCATGTA 0.557000 30 44 0 0 0.00058488 0 0 LOC286059 286059 broad.mit.edu 37 8 22938937 22938937 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:22938937C>T ENST00000501897.1 + 0 441 NR_038873.1 TTTACCTTTTCTCCTACAAAG 0.473000 11 19 0 0 0.000978159 0 0 NAV2 89797 broad.mit.edu 37 11 20129252 20129252 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:20129252C>T ENST00000396085.1 + 37 7254 c.6893C>T c.(6892-6894)tCg>tTg p.S2298L NAV2_ENST00000533917.1_Missense_Mutation_p.S1359L|NAV2_ENST00000396087.3_Missense_Mutation_p.S2354L|NAV2_ENST00000349880.4_Missense_Mutation_p.S2295L|NAV2_ENST00000540292.1_Missense_Mutation_p.S2285L|NAV2_ENST00000311043.8_Missense_Mutation_p.S1359L|NAV2_ENST00000527559.2_Missense_Mutation_p.S2283L|NAV2_ENST00000360655.4_Missense_Mutation_p.S2231L NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 2354 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GTGGACGGCTCGAGAGTGTGG 0.547000 30 206 0 0 0.0024448 0 0 POTEA 340441 broad.mit.edu 37 8 43159870 43159870 + RNA SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:43159870G>A ENST00000522175.2 + 0 726 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGACTACAAAGAAAACCAGAT 0.308000 13 39 0 0 0.000308642 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 130 0 0 0.000602214 0 0 TGM6 343641 broad.mit.edu 37 20 2380222 2380222 + Missense_Mutation SNP G G A rs147591485 byFrequency TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:2380222G>A ENST00000202625.2 + 6 749 c.688G>A c.(688-690)Gac>Aac p.D230N TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.D230N NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 230 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CAGCAACAACGACCGAGGTGT 0.622000 22 74 0 0 0.000878237 0 0 MMP16 4325 broad.mit.edu 37 8 89058940 89058940 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:89058940C>T ENST00000286614.6 - 9 1727 c.1446G>A c.(1444-1446)ggG>ggA p.G482G NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 482 Hemopexin-like 3. 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 ATTCAGGGATCCCTTTCCAGA 0.378000 9 60 0 0 0.000978159 0 0 BAI1 575 broad.mit.edu 37 8 143623480 143623480 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:143623480C>T ENST00000517894.1 + 28 4779 c.3885C>T c.(3883-3885)ccC>ccT p.P1295P BAI1_ENST00000323289.5_Silent_p.P1295P O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1295 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCCGCTATCCCGGCGGGCCCC 0.642000 8 29 0 0 0.000157383 0 0 MCTP1 79772 broad.mit.edu 37 5 94248533 94248533 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:94248533C>T ENST00000515393.1 - 9 1498 c.1499G>A c.(1498-1500)gGg>gAg p.G500E MCTP1_ENST00000505078.1_Missense_Mutation_p.G16E|MCTP1_ENST00000312216.8_Missense_Mutation_p.G279E|MCTP1_ENST00000429576.2_Missense_Mutation_p.G233E|MCTP1_ENST00000505208.1_Missense_Mutation_p.G279E NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 500 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) CTTCTGATGCCCAAGCCGGAA 0.468000 13 43 0 0 0.000422831 0 0 BDNF 627 broad.mit.edu 37 11 27680087 27680087 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:27680087C>T ENST00000525528.1 - 1 1118 c.25G>A c.(25-27)Gtt>Att p.V9I BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.V9I|BDNF_ENST00000395980.2_Missense_Mutation_p.V9I|BDNF_ENST00000530861.1_Missense_Mutation_p.V9I|BDNF_ENST00000395981.3_Missense_Mutation_p.V9I|BDNF_ENST00000314915.6_Missense_Mutation_p.V17I|BDNF_ENST00000356660.4_Missense_Mutation_p.V9I|BDNF_ENST00000395986.2_Missense_Mutation_p.V24I|BDNF_ENST00000533131.1_Missense_Mutation_p.V9I|BDNF_ENST00000395983.3_Missense_Mutation_p.V9I|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.V9I|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395978.3_Missense_Mutation_p.V9I|BDNF_ENST00000533246.1_Missense_Mutation_p.V9I|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.V91I|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.V9I|BDNF_ENST00000532997.1_Missense_Mutation_p.V9I|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.V9I|BDNF-AS_ENST00000530686.1_RNA NM_170735.5 NP_733931.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 9 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 TATGAAATAACCATAGTAAGG 0.493000 46 119 0 0 0.000781405 0 0 MRPL44 65080 broad.mit.edu 37 2 224828523 224828523 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:224828523G>A ENST00000258383.3 + 3 768 c.699G>A c.(697-699)aaG>aaA p.K233K NM_022915.3 NP_075066.1 Q9H9J2 RM44_HUMAN mitochondrial ribosomal protein L44 233 RNA processing mitochondrion|ribosome double-stranded RNA binding|protein binding|ribonuclease III activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008) AGATGTGGAAGATAATAAATC 0.348000 24 72 0 0 0.001512 0 0 CSMD1 64478 broad.mit.edu 37 8 3087620 3087620 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:3087620G>A ENST00000602557.1 - 28 4845 c.4290C>T c.(4288-4290)atC>atT p.I1430I CSMD1_ENST00000542608.1_Silent_p.I1429I|CSMD1_ENST00000539096.1_Silent_p.I1429I|CSMD1_ENST00000520002.1_Silent_p.I1430I|CSMD1_ENST00000400186.3_Silent_p.I1430I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.I1430I|CSMD1_ENST00000537824.1_Silent_p.I1429I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1430 Sushi 8. 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) GCACACAGGTGATTTTGGCTT 0.488000 16 39 0 0 0.000566183 0 0 ABTB1 80325 broad.mit.edu 37 3 127396078 127396078 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:127396078C>T ENST00000468137.1 + 7 901 c.285C>T c.(283-285)ctC>ctT p.L95L ABTB1_ENST00000232744.8_Silent_p.L237L|ABTB1_ENST00000453791.2_Silent_p.L95L|ABTB1_ENST00000393363.3_Silent_p.L95L Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 237 cytoplasm|nucleolus|plasma membrane translation elongation factor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 ACCCCCGCCTCCGGGAGGACA 0.667000 5 9 0 0 0.000602214 0 0 DSP 1832 broad.mit.edu 37 6 7582972 7582972 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:7582972A>T ENST00000379802.3 + 24 5818 c.5477A>T c.(5476-5478)aAg>aTg p.K1826M DSP_ENST00000418664.2_Missense_Mutation_p.K1227M NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1826 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) GAGCAAGACAAGGCAAGGCTG 0.483000 52 98 0 0 0.000781405 0 0 LRCH2 57631 broad.mit.edu 37 X 114422919 114422919 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chrX:114422919G>A ENST00000317135.8 - 2 394 c.364C>T c.(364-366)Cgt>Tgt p.R122C LRCH2_ENST00000538422.1_Missense_Mutation_p.R122C NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 122 breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 TCTGTAAAACGATTTCTGGAA 0.294000 12 17 0 0 0.00185496 0 0 DNAH11 8701 broad.mit.edu 37 7 21781648 21781648 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:21781648C>T ENST00000328843.6 + 50 8070 c.8039C>T c.(8038-8040)cCa>cTa p.P2680L DNAH11_ENST00000409508.3_Missense_Mutation_p.P2673L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2680 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GCATTTGCTCCATCAATTCTC 0.408000 Kartagener syndrome 14 72 0 0 0.000219431 0 0 CLEC17A 388512 broad.mit.edu 37 19 14710852 14710852 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:14710852G>A ENST00000547437.1 + 12 829 c.752G>A c.(751-753)cGa>cAa p.R251Q CLEC17A_ENST00000397439.2_Missense_Mutation_p.R234Q|CLEC17A_ENST00000417570.1_Missense_Mutation_p.R251Q NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 251 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity GACTGCCGCCGAATTACCTGT 0.552000 15 31 0 0 0.000566183 0 0 PTPRN 5798 broad.mit.edu 37 2 220168539 220168539 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:220168539C>T ENST00000295718.2 - 4 535 c.295G>A c.(295-297)Gat>Aat p.D99N AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.D99N|PTPRN_ENST00000423636.2_Missense_Mutation_p.D9N NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 99 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GTGAGGTCATCGTGCCAGGAC 0.577000 24 41 0 0 0.000375601 0 0 GHR 2690 broad.mit.edu 37 5 42718993 42718993 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:42718993G>A ENST00000230882.4 + 10 1574 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K GHR_ENST00000537449.1_Missense_Mutation_p.E275K|GHR_ENST00000357703.3_Missense_Mutation_p.E440K 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 462 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) ACTTCCTACTGAAGGAGCTGA 0.453000 6 25 0 0 0.00198382 0 0 EML3 256364 broad.mit.edu 37 11 62375742 62375742 + Silent SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:62375742C>A ENST00000394773.2 - 10 1444 c.1137G>T c.(1135-1137)gtG>gtT p.V379V EML3_ENST00000529309.1_Silent_p.V379V|EML3_ENST00000494176.2_Silent_p.V351V|EML3_ENST00000278845.4_Silent_p.V380V|EML3_ENST00000531557.1_Silent_p.V162V NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 379 cytoplasm|microtubule protein binding p.V379V(1) 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 TGGAATCATCCACCACACAAA 0.542000 10 222 6.40141e-05 0.000284958 0.000978159 1 0 DMBT1 1755 broad.mit.edu 37 10 124345774 124345774 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:124345774C>T ENST00000338354.3 + 16 1764 c.1658C>T c.(1657-1659)tCa>tTa p.S553L DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S543L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S553L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S543L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 553 SRCR 4. 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) GGTCAGGGCTCAGGACCCATT 0.592000 26 109 0 0 0.000720815 0 0 TDRD5 163589 broad.mit.edu 37 1 179604947 179604947 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:179604947C>T ENST00000444136.1 + 9 1695 c.1445C>T c.(1444-1446)tCt>tTt p.S482F TDRD5_ENST00000367614.1_Missense_Mutation_p.S482F|TDRD5_ENST00000294848.8_Missense_Mutation_p.S482F NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 482 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TATATCATCTCTCCTAGTCAA 0.458000 7 64 0 0 0.000274275 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140792946 140792946 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:140792946C>T ENST00000398610.2 + 1 204 c.204C>T c.(202-204)gtC>gtT p.V68V PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGCGGAGTCCGCATAGTCT 0.607000 27 93 0 0 0.00178596 0 0 GJC3 349149 broad.mit.edu 37 7 99521176 99521176 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:99521176C>T ENST00000312891.2 - 2 831 c.832G>A c.(832-834)Gat>Aat p.D278N NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 278 connexon complex|integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) actcaggcatctctgggtcca 0.388000 42 93 0 0 0.000781405 0 0 ZNF423 23090 broad.mit.edu 37 16 49670603 49670603 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:49670603G>A ENST00000561648.1 - 4 2513 c.2460C>T c.(2458-2460)atC>atT p.I820I ZNF423_ENST00000262383.2_Silent_p.I820I|ZNF423_ENST00000535559.1_Silent_p.I703I|ZNF423_ENST00000563137.2_Silent_p.I760I|ZNF423_ENST00000562871.1_Silent_p.I760I|ZNF423_ENST00000562520.1_Silent_p.I760I|ZNF423_ENST00000567169.1_Silent_p.I703I NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 820 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TCTCCAGCAGGATGATGGCGT 0.572000 16 15 0 0 0.00074312 0 0 NIPBL 25836 broad.mit.edu 37 5 37061013 37061013 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:37061013G>A ENST00000282516.8 + 45 8252 c.7753G>A c.(7753-7755)Gga>Aga p.G2585R NIPBL_ENST00000448238.2_Missense_Mutation_p.G2585R NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2585 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CCGAAAAACAGGAGTTCATTT 0.348000 21 51 0 0 0.00188189 0 0 C8A 731 broad.mit.edu 37 1 57351711 57351711 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:57351711G>A ENST00000361249.3 + 7 1063 c.967G>A c.(967-969)Gat>Aat p.D323N NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 323 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GGAGCTTCCAGATCAGTACAA 0.413000 27 49 0 0 0.00106085 0 0 RPAP1 26015 broad.mit.edu 37 15 41827083 41827083 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:41827083G>A ENST00000304330.4 - 6 708 c.592C>T c.(592-594)Cct>Tct p.P198S RPAP1_ENST00000561603.1_Missense_Mutation_p.P198S NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 198 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CTGCTCCCAGGAAGCTGGCAG 0.552000 11 48 0 0 0.000422831 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28454855 28454855 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:28454855G>A ENST00000383768.2 + 3 484 c.296G>A c.(295-297)gGa>gAa p.G99E ZCWPW2_ENST00000421010.1_Missense_Mutation_p.G99E Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 99 PWWP. zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2) 17 CTCCCTCTTGGAAGCCTGGTT 0.353000 22 66 0 0 0.000586117 0 0 COL6A6 131873 broad.mit.edu 37 3 130285598 130285598 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:130285598G>A ENST00000358511.6 + 4 1366 c.1335G>A c.(1333-1335)ggG>ggA p.G445G COL6A6_ENST00000453409.2_Silent_p.G445G NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 445 Nonhelical region.|VWFA 3. 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 ATGGCTCAGGGAGCACCCAGG 0.493000 5 30 0 0 0.000602214 0 0 COLGALT2 23127 broad.mit.edu 37 1 183938490 183938490 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:183938490C>T ENST00000361927.4 - 5 1116 c.745G>A c.(745-747)Gac>Aac p.D249N COLGALT2_ENST00000546159.1_Missense_Mutation_p.D249N NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 GTCAGCTTGTCCGAGGCCTCC 0.537000 10 69 0 0 0.000673444 0 0 FAM131A 131408 broad.mit.edu 37 3 184062321 184062321 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:184062321G>A ENST00000310585.4 + 3 1935 c.571G>A c.(571-573)Gac>Aac p.D191N EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Missense_Mutation_p.D99N|FAM131A_ENST00000453072.1_Missense_Mutation_p.D137N|FAM131A_ENST00000340957.5_Missense_Mutation_p.D137N|FAM131A_ENST00000383847.2_Missense_Mutation_p.D222N|FAM131A_ENST00000450976.1_Missense_Mutation_p.D137N Q6UXB0 F131A_HUMAN family with sequence similarity 131, member A 191 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCACCTCCAGGACCTGTTCAC 0.632000 20 150 0 0 0.000375601 0 0 INHBA 3624 broad.mit.edu 37 7 41729736 41729736 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:41729736C>T ENST00000242208.4 - 3 1039 c.793G>A c.(793-795)Gag>Aag p.E265K INHBA_ENST00000442711.1_Missense_Mutation_p.E265K|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 265 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 tccccctcctcttctttcttc 0.592000 TSP Lung(11;0.080) 7 26 0 0 0.00198382 0 0 EFHB 151651 broad.mit.edu 37 3 19975029 19975029 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:19975029G>A ENST00000295824.9 - 1 643 c.482C>T c.(481-483)cCt>cTt p.P161L EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 161 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 AACGAAAGCAGGCTTTCCCAC 0.498000 29 100 0 0 0.000491102 0 0 SLIT1 6585 broad.mit.edu 37 10 98808855 98808855 + Missense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:98808855A>T ENST00000266058.4 - 14 1567 c.1322T>A c.(1321-1323)tTc>tAc p.F441Y SLIT1_ENST00000371070.4_Missense_Mutation_p.F441Y|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 441 LRRCT 2. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GTCGCAAATGAAAGGGTTCTG 0.617000 16 49 0 0 0.00121646 0 0 NDRG2 57447 broad.mit.edu 37 14 21488731 21488731 + Missense_Mutation SNP G G A rs144285486 by1000genomes TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:21488731G>A ENST00000556147.1 - 8 1419 c.479C>T c.(478-480)cCg>cTg p.P160L NDRG2_ENST00000553503.1_Missense_Mutation_p.P146L|NDRG2_ENST00000554143.1_Missense_Mutation_p.P146L|NDRG2_ENST00000397853.3_Missense_Mutation_p.P160L|NDRG2_ENST00000397856.3_Missense_Mutation_p.P146L|NDRG2_ENST00000554104.1_Missense_Mutation_p.P73L|NDRG2_ENST00000397858.1_Missense_Mutation_p.P160L|NDRG2_ENST00000397844.2_Missense_Mutation_p.P146L|NDRG2_ENST00000555158.1_Missense_Mutation_p.P146L|NDRG2_ENST00000397855.3_Intron|NDRG2_ENST00000403829.3_Missense_Mutation_p.P156L|NDRG2_ENST00000298684.5_Intron|NDRG2_ENST00000397847.2_Missense_Mutation_p.P160L|NDRG2_ENST00000350792.3_Missense_Mutation_p.P146L|NDRG2_ENST00000397851.2_Missense_Mutation_p.P160L|NDRG2_ENST00000298687.5_Missense_Mutation_p.P160L|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000360463.3_Missense_Mutation_p.P146L Q9UN36 NDRG2_HUMAN NDRG family member 2 160 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) AACAGTGTCCGGGTGGTTAAG 0.562000 5 22 0 0 0.00198382 0 0 ABCF3 55324 broad.mit.edu 37 3 183910650 183910650 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:183910650C>T ENST00000429586.2 + 18 1901 c.1716C>T c.(1714-1716)gtC>gtT p.V572V EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.V566V NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 572 ABC transporter 2. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACCTAAACGTCAGTGCTGTGG 0.542000 35 72 0 0 0.000953801 0 0 LAMA1 284217 broad.mit.edu 37 18 7037703 7037703 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:7037703C>T ENST00000389658.3 - 12 1704 c.1611G>A c.(1609-1611)agG>agA p.R537R NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 537 Laminin IV type A 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) ACGGGATCTTCCTGGGACTGA 0.483000 16 33 0 0 0.000958276 0 0 CRYBB2 1415 broad.mit.edu 37 22 25620999 25620999 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:25620999G>A ENST00000398215.2 + 3 340 c.169G>A c.(169-171)Gga>Aga p.G57R NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 57 Beta/gamma crystallin 'Greek key' 2. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 AGTGCAGGCTGGACCGTAAGT 0.562000 21 61 0 0 0.00047179 0 0 SEL1L3 23231 broad.mit.edu 37 4 25780821 25780821 + Nonsense_Mutation SNP A A T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr4:25780821A>T ENST00000399878.3 - 16 2584 c.2462T>A c.(2461-2463)tTa>tAa p.L821* SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.L668*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.L786* NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 821 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TTCACCAGCTAAAGTCTGTAA 0.463000 9 53 0 0 0.000673444 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430756 37430756 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:37430756G>A ENST00000374660.1 + 7 862 c.763G>A c.(763-765)Gaa>Aaa p.E255K ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E255K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E255K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 311 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 ACCCTTGGTGGAAAGAACACC 0.498000 18 50 0 0 0.000566183 0 0 FOXP1 27086 broad.mit.edu 37 3 71026984 71026984 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:71026984G>A ENST00000318789.4 - 15 1868 c.1343C>T c.(1342-1344)tCg>tTg p.S448L FOXP1_ENST00000475937.1_Missense_Mutation_p.S448L|FOXP1_ENST00000493089.1_Missense_Mutation_p.S448L|FOXP1_ENST00000491238.1_Missense_Mutation_p.S450L|FOXP1_ENST00000498215.1_Missense_Mutation_p.S448L|FOXP1_ENST00000484350.1_Missense_Mutation_p.S372L|FOXP1_ENST00000468577.1_Missense_Mutation_p.S448L NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 448 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TCTACCTGACGAAATGGGCAC 0.488000 T PAX5 ALL 29 71 0 0 0.0024448 0 0 MYOC 4653 broad.mit.edu 37 1 171621368 171621368 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:171621368C>T ENST00000037502.5 - 1 443 c.384G>A c.(382-384)cgG>cgA p.R128R NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 128 anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CCAGCTGGTCCCGCTCCCGCC 0.612000 27 50 0 0 0.000878237 0 0 KIRREL2 84063 broad.mit.edu 37 19 36357125 36357125 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:36357125G>A ENST00000360202.5 + 15 2056 c.1858G>A c.(1858-1860)Gga>Aga p.G620R KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G585R|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G600R|KIRREL2_ENST00000262625.7_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 620 cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGAAGCCCCTGGAGGAGGTCT 0.612000 15 42 0 0 0.000958276 0 0 GPR98 84059 broad.mit.edu 37 5 90052412 90052412 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:90052412G>A ENST00000405460.2 + 56 11818 c.11722G>A c.(11722-11724)Gat>Aat p.D3908N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3908 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) AGAAAATGACGATCCCAGAGG 0.443000 10 30 0 0 0.000978159 0 0 SPAST 6683 broad.mit.edu 37 2 32372286 32372286 + Splice_Site SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:32372286G>A ENST00000315285.3 + 16 1812 c.e16-1 SPAST_ENST00000345662.1_Splice_Site NM_014946.3 NP_055761.2 Q9UBP0 SPAST_HUMAN spastin cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) ATGTTTTACAGAACTAAAACC 0.308000 20 98 0 0 0.000375601 0 0 MUC4 4585 broad.mit.edu 37 3 195492185 195492185 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:195492185C>T ENST00000463781.3 - 9 14213 c.13754G>A c.(13753-13755)tGg>tAg p.W4585* MUC4_ENST00000349607.4_Nonsense_Mutation_p.W298*|MUC4_ENST00000475231.1_Nonsense_Mutation_p.W4533*|MUC4_ENST00000346145.4_Nonsense_Mutation_p.W349* NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1342 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCCCTGCTGCCAGGAACAAGG 0.642000 8 35 0 0 0.000157383 0 0 ATM 472 broad.mit.edu 37 11 108121761 108121761 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:108121761C>T ENST00000278616.4 + 10 1954 c.1569C>T c.(1567-1569)ttC>ttT p.F523F ATM_ENST00000452508.2_Silent_p.F523F NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 523 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ACAGAGAATTCTGGAAGTTAT 0.408000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 44 83 0 0 0.000781405 0 0 WDR86 349136 broad.mit.edu 37 7 151093145 151093145 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:151093145G>A ENST00000334493.6 - 3 873 c.443C>T c.(442-444)cCg>cTg p.P148L WDR86_ENST00000477459.1_Missense_Mutation_p.P20L|WDR86_ENST00000469830.2_Missense_Mutation_p.P148L NM_198285.2 NP_938026.2 Q86TI4 WDR86_HUMAN WD repeat domain 86 148 breast(1)|endometrium(2)|kidney(1)|lung(6) 10 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGGTCCCACGGGGCAGAGTA 0.692000 12 19 0 0 0.00185496 0 0 RLBP1 6017 broad.mit.edu 37 15 89753635 89753635 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:89753635C>T ENST00000268125.5 - 9 1274 c.835G>A c.(835-837)Gag>Aag p.E279K NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 279 CRAL-TRIO. response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) TCATCGATCTCCTGGTAGAAA 0.582000 12 55 0 0 0.000219431 0 0 OR2J2 26707 broad.mit.edu 37 6 29142337 29142337 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:29142337G>A ENST00000377167.2 + 1 1027 c.925G>A c.(925-927)Gag>Aag p.E309K NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 ATTGGGGTGGGAGTGGGGGAA 0.443000 12 30 0 0 0.00136819 0 0 BDKRB2 624 broad.mit.edu 37 14 96707016 96707016 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:96707016C>T ENST00000542454.2 + 3 3358 c.270C>T c.(268-270)atC>atT p.I90I BDKRB2_ENST00000539359.1_Silent_p.I90I|BDKRB2_ENST00000306005.3_Silent_p.I117I|BDKRB2_ENST00000554311.1_Silent_p.I117I|RP11-404P21.8_ENST00000553811.1_Intron P30411 BKRB2_HUMAN bradykinin receptor B2 117 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CCATCACCATCTCCAACAACT 0.587000 32 136 0 0 0.000814825 0 0 IL15RA 3601 broad.mit.edu 37 10 6002431 6002431 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:6002431C>T ENST00000525219.2 - 4 668 c.374G>A c.(373-375)gGa>gAa p.G125E IL15RA_ENST00000528354.1_Missense_Mutation_p.G128E|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397251.3_Missense_Mutation_p.G96E|IL15RA_ENST00000530685.1_Missense_Mutation_p.G128E|IL15RA_ENST00000379977.3_Missense_Mutation_p.G161E|IL15RA_ENST00000397250.2_Missense_Mutation_p.G63E|IL15RA_ENST00000397255.3_Missense_Mutation_p.G161E|IL15RA_ENST00000397248.2_Missense_Mutation_p.G125E|IL15RA_ENST00000379971.1_Missense_Mutation_p.G63E NM_001243539.1 NP_001230468.1 Q13261 I15RA_HUMAN interleukin 15 receptor, alpha 161 cell proliferation cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane cytokine receptor activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 CTCTGTGGTTCCTGTGGAAGG 0.582000 53 113 0 0 0.000781405 0 0 TCF20 6942 broad.mit.edu 37 22 42608868 42608868 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:42608868G>A ENST00000359486.3 - 1 2580 c.2444C>T c.(2443-2445)cCc>cTc p.P815L TCF20_ENST00000335626.4_Missense_Mutation_p.P815L NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 815 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCCCCAGTGGGGATTTTCTAA 0.443000 24 49 0 0 0.00047179 0 0 TRPV5 56302 broad.mit.edu 37 7 142625289 142625289 + Nonsense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:142625289C>T ENST00000265310.1 - 7 1151 c.803G>A c.(802-804)tGg>tAg p.W268* TRPV5_ENST00000442623.1_Nonsense_Mutation_p.W268* NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 268 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) TCCATACGTCCACTGGATGTG 0.562000 10 65 0 0 0.000219431 0 0 LSG1 55341 broad.mit.edu 37 3 194371730 194371730 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:194371730G>A ENST00000265245.5 - 10 1613 c.1299C>T c.(1297-1299)ctC>ctT p.L433L NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 433 G. nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) CACACAGGCAGAGGCCAGGCT 0.488000 9 48 0 0 0.000978159 0 0 GHDC 84514 broad.mit.edu 37 17 40343194 40343194 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:40343194G>A ENST00000301671.8 - 5 1365 c.924C>T c.(922-924)ccC>ccT p.P308P GHDC_ENST00000587427.1_Silent_p.P308P|GHDC_ENST00000436923.2_Silent_p.P308P|GHDC_ENST00000428494.2_Silent_p.P269P|GHDC_ENST00000593209.1_Silent_p.P308P|GHDC_ENST00000414034.3_Silent_p.P308P Q8N2G8 GHDC_HUMAN GH3 domain containing 308 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) AGAGCCCATGGGGCTGCTCTG 0.627000 31 47 0 0 0.00148497 0 0 DHX34 9704 broad.mit.edu 37 19 47861215 47861215 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:47861215C>T ENST00000328771.4 + 4 1459 c.1110C>T c.(1108-1110)gaC>gaT p.D370D NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 370 Helicase C-terminal. 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) AGTCCATTGACCACAAGTACC 0.652000 17 25 0 0 0.00152264 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427148 38427148 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:38427148G>A ENST00000322350.5 + 14 2194 c.1848G>A c.(1846-1848)ctG>ctA p.L616L EGFLAM_ENST00000336740.6_Silent_p.L382L|EGFLAM_ENST00000354891.3_Silent_p.L616L|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM-AS1_ENST00000508986.1_RNA NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 616 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GAGAGTCTCTGAGATCTTACG 0.498000 21 90 0 0 0.00047179 0 0 OR4C46 119749 broad.mit.edu 37 11 51515514 51515514 + Missense_Mutation SNP A A G TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:51515514A>G ENST00000328188.1 + 1 233 c.233A>G c.(232-234)aAc>aGc p.N78S NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 AATACCCCTAACCTGATCACA 0.493000 44 74 0 0 0.000680045 0 0 CIB2 10518 broad.mit.edu 37 15 78401687 78401687 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:78401687G>A ENST00000258930.3 - 4 564 c.236C>T c.(235-237)tCc>tTc p.S79F CIB2_ENST00000560618.1_Missense_Mutation_p.S36F|CIB2_ENST00000539011.1_Missense_Mutation_p.S36F|CIB2_ENST00000557846.1_Missense_Mutation_p.S30F NM_006383.2 NP_006374.1 O75838 CIB2_HUMAN calcium and integrin binding family member 2 79 EF-hand 1. calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 ACCATCCTCGGAAAACGCCGC 0.547000 13 59 0 0 0.000566183 0 0 ATP9A 10079 broad.mit.edu 37 20 50273611 50273611 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:50273611C>T ENST00000338821.5 - 14 1636 c.1372G>A c.(1372-1374)Gaa>Aaa p.E458K ATP9A_ENST00000402822.1_Missense_Mutation_p.E337K|ATP9A_ENST00000311637.5_Missense_Mutation_p.E322K NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 458 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(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TTCACGGCTTCGTGCACGCGG 0.597000 18 26 0 0 0.000958276 0 0 PHF7 51533 broad.mit.edu 37 3 52456247 52456247 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:52456247C>T ENST00000327906.3 + 9 1350 c.690C>T c.(688-690)gcC>gcT p.A230A PHF7_ENST00000478707.1_Silent_p.A230A|PHF7_ENST00000347025.2_Intron NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 230 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) GAGATGCTGCCTGGGAACTCG 0.493000 30 96 0 0 0.0024448 0 0 GLI3 2737 broad.mit.edu 37 7 42065951 42065951 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:42065951G>A ENST00000395925.3 - 8 1173 c.1089C>T c.(1087-1089)atC>atT p.I363I GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 363 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GTCGGCTTAGGATCTGCTGAT 0.537000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 10 52 0 0 0.00185496 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334311 37334311 + Missense_Mutation SNP G G A rs146598061 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:37334311G>A ENST00000262825.5 + 14 2696 c.2479G>A c.(2479-2481)Gac>Aac p.D827N CSF2RB_ENST00000403662.3_Missense_Mutation_p.D821N|CSF2RB_ENST00000406230.1_Missense_Mutation_p.D827N|CSF2RB_ENST00000536485.1_Missense_Mutation_p.D768N NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 821 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) GCAAGTGGGCGACTATTGCTT 0.647000 48 121 0 0 0.000781405 0 0 ZFR2 23217 broad.mit.edu 37 19 3823267 3823267 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr19:3823267C>T ENST00000262961.4 - 8 1358 c.1348G>A c.(1348-1350)Gtg>Atg p.V450M NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 450 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) TCCGGGCCCACCGGCTGCGCA 0.622000 45 195 0 0 0.000781405 0 0 KCTD6 200845 broad.mit.edu 37 3 58486915 58486915 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:58486915G>A ENST00000355076.6 + 2 1253 c.270G>A c.(268-270)cgG>cgA p.R90R KCTD6_ENST00000490264.1_Silent_p.R90R|KCTD6_ENST00000404589.3_Silent_p.R90R NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 90 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) ATCTGCTTCGGAAAGAAGCAG 0.393000 29 80 0 0 0.00209593 0 0 POMGNT2 84892 broad.mit.edu 37 3 43122090 43122090 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:43122090G>A ENST00000344697.2 - 2 1179 c.834C>T c.(832-834)agC>agT p.S278S GTDC2_ENST00000441964.1_Silent_p.S278S NM_032806.4 NP_116195.2 CTCCTGTGTGGCTCACGTTCA 0.567000 35 115 0 0 0.00195071 0 0 HRNR 388697 broad.mit.edu 37 1 152193617 152193617 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:152193617C>T ENST00000368801.2 - 3 563 c.488G>A c.(487-489)aGa>aAa p.R163K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 163 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) AGAAAAGTCTCTTTGAAAACT 0.478000 30 61 0 0 0.00127121 0 0 FN1 2335 broad.mit.edu 37 2 216269123 216269123 + Missense_Mutation SNP A A C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:216269123A>C ENST00000354785.4 - 20 3611 c.3242T>G c.(3241-3243)gTc>gGc p.V1081G FN1_ENST00000323926.6_Missense_Mutation_p.V1081G|FN1_ENST00000443816.1_Missense_Mutation_p.V1081G|FN1_ENST00000421182.1_Missense_Mutation_p.V1081G|FN1_ENST00000432072.2_Missense_Mutation_p.V1081G|FN1_ENST00000346544.3_Missense_Mutation_p.V1081G|FN1_ENST00000345488.5_Missense_Mutation_p.V1081G|FN1_ENST00000357867.4_Missense_Mutation_p.V1081G|FN1_ENST00000359671.1_Missense_Mutation_p.V1081G|FN1_ENST00000357009.2_Missense_Mutation_p.V1081G|FN1_ENST00000446046.1_Missense_Mutation_p.V1081G|FN1_ENST00000336916.4_Missense_Mutation_p.V1081G|FN1_ENST00000356005.4_Missense_Mutation_p.V1081G P02751 FINC_HUMAN fibronectin 1 1081 Fibronectin type-III 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) TGTGGTAAAGACTCCAGTGGC 0.408000 20 102 0 0 0.00106085 0 0 PCLO 27445 broad.mit.edu 37 7 82545732 82545732 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:82545732C>T ENST00000423517.2 - 7 11907 c.11570G>A c.(11569-11571)aGa>aAa p.R3857K PCLO_ENST00000333891.8_Missense_Mutation_p.R3857K|PCLO_ENST00000437081.1_Missense_Mutation_p.R577K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3788 Gln-rich. 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 GGGAGCAGTTCTTGGTCGCTC 0.468000 58 87 0 0 0.000781405 0 0 NT5C1B 93034 broad.mit.edu 37 2 18768844 18768844 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:18768844C>T ENST00000304081.4 - 2 145 c.45G>A c.(43-45)atG>atA p.M15I NT5C1B_ENST00000359846.2_Missense_Mutation_p.M15I|NT5C1B_ENST00000600945.1_Missense_Mutation_p.M15I|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.M15I|NT5C1B_ENST00000460052.1_5'UTR NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TTGAGGACCTCATTCCAGGCT 0.378000 18 151 0 0 0.00047179 0 0 FREM1 158326 broad.mit.edu 37 9 14842369 14842369 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:14842369G>A ENST00000380881.4 - 10 2501 c.1686C>T c.(1684-1686)atC>atT p.I562I FREM1_ENST00000422223.2_Silent_p.I561I|FREM1_ENST00000380880.3_Silent_p.I561I Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 561 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GAGGCTTTGTGATATTGAAGA 0.493000 45 64 0 0 0.000781405 0 0 NAV3 89795 broad.mit.edu 37 12 78583938 78583938 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:78583938C>T ENST00000397909.2 + 34 6403 c.6230C>T c.(6229-6231)tCt>tTt p.S2077F NAV3_ENST00000266692.7_Missense_Mutation_p.S1878F|NAV3_ENST00000228327.6_Missense_Mutation_p.S2055F|NAV3_ENST00000536525.2_Missense_Mutation_p.S2055F|NAV3_ENST00000552300.1_3'UTR Q8IVL0 NAV3_HUMAN neuron navigator 3 2077 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.S2055F(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ATAACCAAATCTGGAAGGAAA 0.373000 HNSCC(70;0.22) 14 17 0 0 0.000219431 0 0 FLT4 2324 broad.mit.edu 37 5 180043924 180043924 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:180043924C>T ENST00000261937.6 - 22 3150 c.3072G>A c.(3070-3072)ggG>ggA p.G1024G FLT4_ENST00000502649.1_Silent_p.G1024G|FLT4_ENST00000393347.3_Silent_p.G1024G NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1024 Protein kinase. 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) GGAACTCCATCCCTCTGGCCA 0.602000 22 95 0 0 0.001512 0 0 TRPM3 80036 broad.mit.edu 37 9 73477828 73477828 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:73477828G>A ENST00000377110.2 - 3 701 c.458C>T c.(457-459)gCc>gTc p.A153V TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000377111.2_Missense_Mutation_p.A153V|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.A155V|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000423814.3_Missense_Mutation_p.A155V|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 153 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GATTACCATGGCTTTGTTGGA 0.468000 21 35 0 0 0.000586117 0 0 RBM11 54033 broad.mit.edu 37 21 15599441 15599441 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:15599441G>A ENST00000400577.3 + 5 682 c.673G>A c.(673-675)Gga>Aga p.G225R RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 225 nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) TCTTGAGGCTGGACCCAGCTC 0.428000 33 196 0 0 0.00195071 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047310 46047310 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr21:46047310C>T ENST00000397911.3 + 1 271 c.222C>T c.(220-222)tcC>tcT p.S74S KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 74 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 GCACCAGCTCCTGCACGCCCT 0.682000 26 99 0 0 0.00209593 0 0 ACACB 32 broad.mit.edu 37 12 109604784 109604784 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:109604784C>T ENST00000338432.7 + 3 891 c.772C>T c.(772-774)Cgg>Tgg p.R258W ACACB_ENST00000377848.3_Missense_Mutation_p.R258W|ACACB_ENST00000377854.5_Missense_Mutation_p.R258W O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 258 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TGGGGGGGATCGGGTCATCGA 0.612000 14 25 0 0 0.00185496 0 0 SLC24A1 9187 broad.mit.edu 37 15 65943172 65943172 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:65943172G>A ENST00000261892.6 + 7 2972 c.2685G>A c.(2683-2685)gaG>gaA p.E895E SLC24A1_ENST00000399033.4_Silent_p.E895E|SLC24A1_ENST00000339868.6_Silent_p.E877E|SLC24A1_ENST00000546330.1_Silent_p.E877E|SLC24A1_ENST00000537259.1_Silent_p.E877E|SLC24A1_ENST00000544319.2_Silent_p.E781E|SLC24A1_ENST00000449142.2_3'UTR NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 895 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 GAAATGAAGAGCCTCTGTCCC 0.582000 9 37 0 0 0.000442599 0 0 IGLV2-18 28814 broad.mit.edu 37 22 23077304 23077304 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:23077304C>T ENST00000390310.2 + 0 94 CTCAGCCTCCCTCCGTGTCCG 0.567000 60 135 0 0 0.000781405 0 0 TSC22D2 9819 broad.mit.edu 37 3 150176403 150176403 + Missense_Mutation SNP C C A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:150176403C>A ENST00000361875.2 + 4 3339 c.2323C>A c.(2323-2325)Ccg>Acg p.P775T TSC22D2_ENST00000361136.2_Missense_Mutation_p.P751T NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 775 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TCCACAGCAGCCGAATGTCTC 0.473000 7 47 5.18039e-06 2.31223e-05 0.000157383 1 0 ELFN2 114794 broad.mit.edu 37 22 37770222 37770222 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:37770222G>A ENST00000402918.1 - 3 2138 c.1353C>T c.(1351-1353)tcC>tcT p.S451S ELFN2_ENST00000349653.3_Silent_p.S451S|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 451 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CGTGCACAATGGAGCCGGCAT 0.642000 57 162 0 0 0.000781405 0 0 CAT 847 broad.mit.edu 37 11 34477732 34477732 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:34477732C>T ENST00000241052.4 + 7 975 c.886C>T c.(886-888)Cca>Tca p.P296S NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 296 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) TCCATTTAATCCATTCGATCT 0.353000 5 30 0 0 0.000602214 0 0 CDHR3 222256 broad.mit.edu 37 7 105656392 105656392 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:105656392C>T ENST00000542731.1 + 11 1455 c.1347C>T c.(1345-1347)atC>atT p.I449I CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000343407.5_Silent_p.I168I|CDHR3_ENST00000317716.9_Silent_p.I449I|CDHR3_ENST00000478080.1_Silent_p.I361I Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 449 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 ACGTTTATATCCTAACAAGCC 0.338000 8 30 0 0 0.000673444 0 0 CSMD1 64478 broad.mit.edu 37 8 2813131 2813131 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr8:2813131C>T ENST00000602557.1 - 65 10532 c.9977G>A c.(9976-9978)gGa>gAa p.G3326E CSMD1_ENST00000542608.1_Missense_Mutation_p.G3148E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3326E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3149E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3149E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3325E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3326 Sushi 28. 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) AGGCGACTTTCCTGTCCATTT 0.488000 13 39 0 0 0.00185496 0 0 TBC1D3P1-DHX40P1 653645 broad.mit.edu 37 17 58089046 58089046 + RNA SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr17:58089046C>T ENST00000407042.3 - 0 779 CCCAGCCCATCGTGAAATCAG 0.612000 54 81 0 0 0.000781405 0 0 ASTN2 23245 broad.mit.edu 37 9 119770441 119770441 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:119770441G>A ENST00000313400.4 - 7 1621 c.1521C>T c.(1519-1521)tcC>tcT p.S507S ASTN2_ENST00000361209.2_Silent_p.S456S|ASTN2_ENST00000373996.3_Silent_p.S507S|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 507 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TCACCCATGGGGAGGTGGCAT 0.572000 22 28 0 0 0.001512 0 0 HAUS1 115106 broad.mit.edu 37 18 43698273 43698273 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:43698273C>T ENST00000282058.6 + 3 412 c.332C>T c.(331-333)tCg>tTg p.S111L HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 111 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 AAGGATACCTCGCTAGCTAGG 0.398000 18 58 0 0 0.00188189 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882709 228882709 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:228882709C>T ENST00000392056.3 - 7 2907 c.2861G>A c.(2860-2862)gGa>gAa p.G954E SPHKAP_ENST00000344657.5_Missense_Mutation_p.G954E NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 954 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) GGGTTGTTTTCCACTGGAGTT 0.493000 33 67 0 0 0.00111076 0 0 IKBIP 121457 broad.mit.edu 37 12 99020401 99020401 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:99020401G>A ENST00000299157.4 - 3 814 c.441C>T c.(439-441)agC>agT p.S147S IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 149 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 TCTCATTAAGGCTTTGCATCC 0.358000 37 103 0 0 0.00111076 0 0 OR2J2 26707 broad.mit.edu 37 6 29141830 29141830 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr6:29141830C>T ENST00000377167.2 + 1 520 c.418C>T c.(418-420)Cgt>Tgt p.R140C NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CATGCACCCTCGTTTCTGCCA 0.468000 69 119 0 0 0.000781405 0 0 FSHR 2492 broad.mit.edu 37 2 49190896 49190896 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:49190896G>A ENST00000406846.2 - 10 1183 c.1064C>T c.(1063-1065)cCa>cTa p.P355L FSHR_ENST00000541117.1_Missense_Mutation_p.P91L|FSHR_ENST00000304421.4_Missense_Mutation_p.P329L|FSHR_ENST00000346173.3_Missense_Mutation_p.P293L NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 355 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ATCTTCACATGGGTTGAATGC 0.453000 Gonadal Dysgenesis, 46 XX 17 47 0 0 0.000422831 0 0 FAM179A 165186 broad.mit.edu 37 2 29225440 29225440 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:29225440C>T ENST00000379558.4 + 5 817 c.466C>T c.(466-468)Ctg>Ttg p.L156L FAM179A_ENST00000403861.2_Silent_p.L156L NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 156 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 AGGAGTTCCCCTGCACAGCAC 0.627000 8 17 0 0 0.000442599 0 0 MARCH7 64844 broad.mit.edu 37 2 160605254 160605254 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:160605254C>T ENST00000259050.3 + 5 1575 c.1453C>T c.(1453-1455)Cgg>Tgg p.R485W MARCH7_ENST00000409591.1_Missense_Mutation_p.R447W|MARCH7_ENST00000409175.1_Missense_Mutation_p.R485W|MARCH7_ENST00000539065.1_Missense_Mutation_p.R429W NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 485 ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 TTCCTTATTCCGGTTTGCAGT 0.453000 93 273 0 0 0.000781405 0 0 SERPINB7 8710 broad.mit.edu 37 18 61468235 61468235 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr18:61468235G>A ENST00000398019.2 + 7 1058 c.733G>A c.(733-735)Gac>Aac p.D245N SERPINB7_ENST00000336429.2_Missense_Mutation_p.D245N|SERPINB7_ENST00000546027.1_Missense_Mutation_p.D245N|SERPINB7_ENST00000540675.1_Missense_Mutation_p.D228N NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 245 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) GCCTGAGAATGACCTCTCTGA 0.373000 18 50 0 0 0.00188189 0 0 KIAA1217 56243 broad.mit.edu 37 10 24817000 24817000 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:24817000G>A ENST00000376451.2 + 9 2343 c.2083G>A c.(2083-2085)Ggc>Agc p.G695S KIAA1217_ENST00000307544.6_Missense_Mutation_p.G695S|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G977S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.G695S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G977S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G695S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G1012S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G932S Q5T5P2 SKT_HUMAN KIAA1217 1012 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 GCCAGCCACAGGCCCACTGCC 0.502000 21 76 0 0 0.00127121 0 0 ZNF217 7764 broad.mit.edu 37 20 52198664 52198664 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:52198664G>A ENST00000371471.2 - 2 1127 c.702C>T c.(700-702)caC>caT p.H234H ZNF217_ENST00000302342.3_Silent_p.H234H O75362 ZN217_HUMAN zinc finger protein 217 234 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) GCACCTTGCGGTGCTCAATTA 0.522000 57 125 0 0 0.000781405 0 0 PKDREJ 10343 broad.mit.edu 37 22 46652877 46652877 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:46652877C>T ENST00000253255.5 - 1 6342 c.6343G>A c.(6343-6345)Gaa>Aaa p.E2115K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2115 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) TAGTTCCATTCATGCTGACCA 0.443000 14 45 0 0 0.00185496 0 0 IL16 3603 broad.mit.edu 37 15 81592044 81592044 + Missense_Mutation SNP C C T rs149410949 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr15:81592044C>T ENST00000394660.2 + 14 2737 c.2377C>T c.(2377-2379)Cgc>Tgc p.R793C IL16_ENST00000302987.4_Missense_Mutation_p.R793C|IL16_ENST00000394652.2_Missense_Mutation_p.R92C|IL16_ENST00000560230.1_3'UTR NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 793 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 AGCCTGGTTTCGCCAAAGCTT 0.562000 11 50 0 0 0.000978159 0 0 VPS41 27072 broad.mit.edu 37 7 38766557 38766557 + Silent SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:38766557G>A ENST00000310301.4 - 28 2490 c.2436C>T c.(2434-2436)ttC>ttT p.F812F VPS41_ENST00000395969.2_Silent_p.F787F NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 812 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 GCCGGCAATGGAAGACCACCA 0.507000 10 62 0 0 0.000978159 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887587 12887587 + Silent SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:12887587C>T ENST00000535591.1 - 3 465 c.270G>A c.(268-270)agG>agA p.R90R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 90 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GTGTTTTGTTCCTCTTGGCAT 0.483000 81 294 0 0 0.000781405 0 0 HINT2 84681 broad.mit.edu 37 9 35813492 35813492 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr9:35813492G>A ENST00000259667.5 - 3 318 c.277C>T c.(277-279)Cct>Tct p.P93S HINT2_ENST00000474908.1_5'UTR NM_032593.2 NP_115982.1 Q9BX68 HINT2_HUMAN histidine triad nucleotide binding protein 2 93 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) GGCTTCTTAGGAATGACCAGG 0.587000 OREG0019179 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 26 0 0 0.00188189 0 0 ACSM4 341392 broad.mit.edu 37 12 7457123 7457123 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:7457123G>A ENST00000399422.4 + 1 244 c.196G>A c.(196-198)Gag>Aag p.E66K NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 66 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 GTCCCAAAAGGAGAAGGTATA 0.453000 12 23 0 0 0.00136819 0 0 RPL37 6167 broad.mit.edu 37 5 40832606 40832606 + Missense_Mutation SNP T T C TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:40832606T>C ENST00000509877.1 - 3 235 c.209A>G c.(208-210)aAg>aGg p.K70R RPL37_ENST00000504562.1_5'UTR|RPL37_ENST00000274242.5_Silent_p.*98* P61927 RL37_HUMAN ribosomal protein L37 0 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit metal ion binding|protein binding|rRNA binding|structural constituent of ribosome lung(3)|ovary(1) 4 Breast(839;0.238) GTTGACATTCTTAAGATGAAC 0.373000 70 304 0 0 0.000781405 0 0 DNAH1 25981 broad.mit.edu 37 3 52417967 52417967 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr3:52417967G>A ENST00000420323.2 + 52 8503 c.8242G>A c.(8242-8244)Gaa>Aaa p.E2748K NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2748 AAA 4 (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) GTGGCCGGCAGAAGCCCTGAA 0.557000 11 21 0 0 0.000673444 0 0 IGIP 492311 broad.mit.edu 37 5 139508114 139508114 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:139508114C>T ENST00000333305.3 + 1 2594 c.53C>T c.(52-54)aCc>aTc p.T18I NM_001007189.1 NP_001007190.1 A6NJ69 IGIP_HUMAN IgA-inducing protein 18 extracellular region TGTAATATTACCATATTTGCT 0.383000 7 57 0 0 0.00198382 0 0 NFIA 4774 broad.mit.edu 37 1 61553830 61553830 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:61553830C>T ENST00000403491.3 + 2 521 c.37C>T c.(37-39)Cat>Tat p.H13Y NFIA_ENST00000371184.2_Missense_Mutation_p.H13Y|NFIA_ENST00000371189.4_Missense_Mutation_p.H58Y|NFIA_ENST00000371191.1_Missense_Mutation_p.H36Y|NFIA_ENST00000371185.2_Missense_Mutation_p.H13Y|NFIA_ENST00000485903.2_Missense_Mutation_p.H13Y|NFIA_ENST00000371187.3_Missense_Mutation_p.H13Y|NFIA_ENST00000407417.3_Missense_Mutation_p.H5Y|NFIA_ENST00000479364.1_Intron NM_001134673.3|NM_005595.4 NP_001128145.1|NP_005586.1 Q12857 NFIA_HUMAN nuclear factor I/A 13 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 GGATGAATTTCATCCTTTCAT 0.378000 43 161 0 0 0.000781405 0 0 CRYBB2 1415 broad.mit.edu 37 22 25627647 25627647 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr22:25627647G>A ENST00000398215.2 + 6 697 c.526G>A c.(526-528)Gac>Aac p.D176N NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 176 Beta/gamma crystallin 'Greek key' 4. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 GGACAGCAGCGACTTTGGGGC 0.647000 27 83 0 0 0.00106085 0 0 HMGCR 3156 broad.mit.edu 37 5 74646750 74646750 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:74646750C>T ENST00000287936.4 + 9 1073 c.917C>T c.(916-918)tCc>tTc p.S306F HMGCR_ENST00000343975.5_Missense_Mutation_p.S306F|HMGCR_ENST00000511206.1_Missense_Mutation_p.S306F NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 306 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) CCAAGTGTTTCCCTCTGGCAG 0.348000 72 233 0 0 0.000781405 0 0 FCAMR 83953 broad.mit.edu 37 1 207139141 207139141 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:207139141G>A ENST00000324852.4 - 4 706 c.232C>T c.(232-234)Ccc>Tcc p.P78S FCAMR_ENST00000450945.2_Missense_Mutation_p.P78S|FCAMR_ENST00000400962.3_Missense_Mutation_p.P78S NM_001170631.1 NP_001164102.1 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity 33 Ig-like V-type.|Mediates immunoglobulin Fc fragment- binding (By similarity). integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 GTCCTGGAGGGGAGAGAGCCC 0.607000 5 28 0 0 0.00116845 0 0 MRVI1 10335 broad.mit.edu 37 11 10651091 10651091 + Missense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr11:10651091G>A ENST00000547195.1 - 4 795 c.295C>T c.(295-297)Cca>Tca p.P99S MRVI1_ENST00000421747.1_Missense_Mutation_p.P181S|MRVI1_ENST00000527509.2_Missense_Mutation_p.P99S|MRVI1_ENST00000531107.1_Missense_Mutation_p.P181S|MRVI1_ENST00000423302.2_Missense_Mutation_p.P190S|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.P181S|MRVI1_ENST00000541483.1_Missense_Mutation_p.P190S|MRVI1_ENST00000552103.1_Missense_Mutation_p.P99S NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 181 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) CTACCTGATGGGGAGTCTCCG 0.642000 14 23 0 0 0.00121646 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81049619 81049619 + Nonsense_Mutation SNP G G A TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr10:81049619G>A ENST00000334512.5 + 9 1085 c.513G>A c.(511-513)tgG>tgA p.W171* ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 171 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) CCACGGTTTGGGGAGTAACCA 0.587000 12 73 0 0 0.000219431 0 0 CDK11B 984 broad.mit.edu 37 1 1573136 1573136 + Silent SNP G G A rs17434073 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:1573136G>A ENST00000407249.3 - 14 1460 c.1461C>T c.(1459-1461)atC>atT p.I487I CDK11B_ENST00000340677.5_Silent_p.I474I|CDK11B_ENST00000317673.7_Silent_p.I485I|CDK11B_ENST00000341832.6_Silent_p.I440I P21127 CD11B_HUMAN cyclin-dependent kinase 11B 497 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 TAACGGTGACGATGTTGGGAT 0.617000 44 264 0 0 0.000781405 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17698599 17698599 + Missense_Mutation SNP C C T TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:17698599C>T ENST00000399080.2 - 1 1107 c.1084G>A c.(1084-1086)Gac>Aac p.D362N NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 362 p.D362N(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTTCTAGAGTCTCTTACATTA 0.378000 25 65 0 0 0.000720815 0 0 LCE5A 254910 broad.mit.edu 37 1 152484024 152484024 + Frame_Shift_Del DEL A A - TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr1:152484024delA ENST00000334269.2 + 2 190 c.14delA c.(13-15)cgfs p.Q5fs NM_178438.4 NP_848525.1 Q5TCM9 LCE5A_HUMAN late cornified envelope 5A 5 Cys-rich. keratinization lung(3)|ovary(1)|prostate(3) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGCCAGCAGAGCCAGCAG 0.488 14 56 --- --- --- --- APOB 338 broad.mit.edu 37 2 21224642 21224649 + Frame_Shift_Del DEL TAGGGGTT TAGGGGTT - rs145832414 TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr2:21224642_21224649delTAGGGGTT ENST00000233242.1 - 29 13772_13779 c.13645_13652delAACCCCTA c.(13645-13653)cfs p.NPY4549fs NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4549 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) AAGCTTCATGTAGGGGTTCATGACTGTG 0.356 58 306 --- --- --- --- FEM1C 56929 broad.mit.edu 37 5 114860413 114860413 + Frame_Shift_Del DEL G G - TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:114860413delG ENST00000274457.3 - 3 2007 c.1446delC c.(1444-1446)aafs p.N482fs NM_020177.2 NP_064562.1 Q96JP0 FEM1C_HUMAN fem-1 homolog c (C. elegans) 482 cytoplasm breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 18 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) GAGGGCTGAAGTTATTCTTTC 0.398 7 69 --- --- --- --- FAM53C 51307 broad.mit.edu 37 5 137680962 137680967 + In_Frame_Del DEL CCTGGC CCTGGC - TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:137680962_137680967delCCTGGC ENST00000239906.5 + 4 1013_1018 c.585_590delCCTGGC c.(583-591)agc>ag p.SLA195del FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_In_Frame_Del_p.SLA195del|FAM53C_ENST00000507506.1_3'UTR NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 195 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CTTTCTTCAGCCTGGCCCTGGCCCAA 0.636 22 257 --- --- --- --- ADRA1B 147 broad.mit.edu 37 5 159399204 159399204 + Frame_Shift_Del DEL C C - TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr5:159399204delC ENST00000306675.3 + 2 1391 c.1268delC c.(1267-1269)tgfs p.S423fs NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 423 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) ACCCTGCCCTCGGCCTCGCCG 0.771 2 4 --- --- --- --- CDK13 8621 broad.mit.edu 37 7 39991038 39991038 + Frame_Shift_Del DEL C C - TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr7:39991038delC ENST00000181839.4 + 1 1403 c.798delC c.(796-798)agfs p.S270fs CDK13_ENST00000340829.5_Frame_Shift_Del_p.S270fs NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 270 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 CCACATCCAGCAGCAGTAGCA 0.697 2 4 --- --- --- --- PLXNC1 10154 broad.mit.edu 37 12 94673258 94673258 + Frame_Shift_Del DEL T T - TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr12:94673258delT ENST00000258526.4 + 22 3857 c.3608delT c.(3607-3609)gcfs p.V1204fs PLXNC1_ENST00000547057.1_Frame_Shift_Del_p.V251fs|PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 1204 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GCATTAAACGTCGTCTTTGAA 0.408 22 43 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr14:24633132_24633134delAGC ENST00000396864.3 + 5 828_830 c.541_543delAGC c.(541-543)del p.S187del RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 187 Poly-Ser. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) AGACATTGGGagcagcagcagca 0.567 7 72 --- --- --- --- C16orf74 404550 broad.mit.edu 37 16 85743879 85743881 + In_Frame_Del DEL GCT GCT - TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr16:85743879_85743881delGCT ENST00000602583.1 - 1 575_577 c.25_27delAGC c.(25-27)del p.S9del C16orf74_ENST00000284245.4_In_Frame_Del_p.S21del|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602719.1_In_Frame_Del_p.S21del|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602675.1_5'UTR Q96GX8 CP074_HUMAN chromosome 16 open reading frame 74 21 CCTCGTCGTGGCTGCTGCTGCTG 0.635 3 6 --- --- --- --- ZNF831 128611 broad.mit.edu 37 20 57829145 57829145 + Frame_Shift_Del DEL C C - TCGA-GN-A26C-01A-11D-A19A-08 TCGA-GN-A26C-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2774050-1257-4c29-b201-d79ce70fe17e ca8bfcec-4721-46d0-8c5a-7ac30d86e424 g.chr20:57829145delC ENST00000371030.2 + 5 4381 c.4381delC c.(4381-4383)ccfs p.P1461fs NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1461 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CTCAACAGATCCCAAACCATA 0.527 33 43 --- --- --- ---