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 OR5K4 403278 broad.mit.edu 37 3 98072707 98072707 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:98072707G>A ENST00000354924.2 + 1 10 c.10G>A c.(10-12)Gaa>Aaa p.E4K RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 AATGGCTAGGGAAAATCACTC 0.393000 18 34 0 0 0.000958276 0 0 PRSS38 339501 broad.mit.edu 37 1 228004911 228004911 + Splice_Site SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:228004911G>A ENST00000366757.3 + 3 337 c.311_splice c.e3-1 p.D105_splice NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 105 Peptidase S1. 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 CCCCCACAGGGACAAGAATAT 0.577000 14 32 0 0 0.000308642 0 0 PLEC 5339 broad.mit.edu 37 8 144997235 144997235 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:144997235G>A ENST00000322810.4 - 31 7442 c.7273C>T c.(7273-7275)Caa>Taa p.Q2425* PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q2256*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q2288*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q2288*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q2315*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q2266*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q2311*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q2274*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q2292* NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2425 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCAGCCTCTTGGGCCGCCACA 0.642000 4 14 0 0 0.000602214 0 0 MYO18B 84700 broad.mit.edu 37 22 26165122 26165122 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:26165122G>A ENST00000335473.7 + 4 1489 c.1239G>A c.(1237-1239)gaG>gaA p.E413E MYO18B_ENST00000407587.2_Silent_p.E413E|MYO18B_ENST00000536101.1_Silent_p.E413E NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 413 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 GTCAGACAGAGAAGGGCTGTG 0.612000 4 13 0 0 0.00024832 0 0 SNHG14 104472715 broad.mit.edu 37 15 25227115 25227115 + RNA SNP A A C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:25227115A>C ENST00000551631.2 + 0 418 NR_001293.1 AAGAGAAATAAGCATATATTG 0.363000 37 325 0 0 0.00148497 0 0 BSN 8927 broad.mit.edu 37 3 49689342 49689342 + Missense_Mutation SNP G G A rs139369583 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:49689342G>A ENST00000296452.4 + 5 2467 c.2353G>A c.(2353-2355)Gaa>Aaa p.E785K NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 785 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) GGAGGAAGACGAAGACTCTGC 0.597000 12 12 0 0 0.00136819 0 0 RNF43 54894 broad.mit.edu 37 17 56435718 56435718 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:56435718G>A ENST00000584437.1 - 8 3374 c.1419C>T c.(1417-1419)ggC>ggT p.G473G RNF43_ENST00000407977.2_Silent_p.G473G|RNF43_ENST00000581868.1_Silent_p.G346G|RNF43_ENST00000583753.1_Silent_p.G432G|RNF43_ENST00000577625.1_Silent_p.G346G|RNF43_ENST00000577716.1_Silent_p.G473G|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Silent_p.G432G Q68DV7 RNF43_HUMAN ring finger protein 43 473 Ser-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CACTGGAAGAGCCATGACAGG 0.572000 48 19 0 0 0.000781405 0 0 FLT1 2321 broad.mit.edu 37 13 29041706 29041706 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:29041706C>T ENST00000282397.4 - 2 364 c.113G>A c.(112-114)gGc>gAc p.G38D FLT1_ENST00000541932.1_Missense_Mutation_p.G38D|FLT1_ENST00000539099.1_Missense_Mutation_p.G38D NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 38 Ig-like C2-type 1. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTGCTGGGTGCCTTTTAAACT 0.378000 10 16 0 0 0.000308642 0 0 DMRTB1 63948 broad.mit.edu 37 1 53927154 53927154 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:53927154C>T ENST00000371445.3 + 2 641 c.586C>T c.(586-588)Ctg>Ttg p.L196L DMRTB1_ENST00000463126.1_3'UTR NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 196 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 AGTGCGCCCTCTGAACATCAA 0.662000 22 39 0 0 0.00127121 0 0 FAM83C 128876 broad.mit.edu 37 20 33876313 33876313 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:33876313C>T ENST00000374408.3 - 3 853 c.757G>A c.(757-759)Gag>Aag p.E253K NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 253 p.E253K(1) 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) ACGAACTTCTCCAGGGCCTGC 0.632000 17 30 0 0 0.00121646 0 0 TTN 7273 broad.mit.edu 37 2 179590565 179590565 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179590565G>A ENST00000589042.1 - 70 20708 c.20484C>T c.(20482-20484)atC>atT p.I6828I TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.I6511I|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.I5584I|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6511 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) GGTATTCACCGATGTCTGAAG 0.388000 34 51 0 0 0.000953801 0 0 DBH 1621 broad.mit.edu 37 9 136508583 136508583 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:136508583G>A ENST00000393056.2 + 4 805 c.793G>A c.(793-795)Gaa>Aaa p.E265K NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 265 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCACCACATGGAAGTCTTCCA 0.657000 21 9 0 0 0.000586117 0 0 TRIML1 339976 broad.mit.edu 37 4 189068190 189068190 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:189068190C>T ENST00000332517.3 + 6 1211 c.1071C>T c.(1069-1071)atC>atT p.I357I TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 357 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) AAGTGGGCATCTGCAAGGACT 0.532000 17 31 0 0 0.00074312 0 0 NBEA 26960 broad.mit.edu 37 13 35733303 35733303 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:35733303G>A ENST00000400445.3 + 22 3529 c.2995G>A c.(2995-2997)Gaa>Aaa p.E999K NBEA_ENST00000540320.1_Missense_Mutation_p.E999K|NBEA_ENST00000379939.2_Missense_Mutation_p.E999K|NBEA_ENST00000310336.4_Missense_Mutation_p.E999K NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 999 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) AGGTGGAATGGAAATTCGAGA 0.428000 36 61 0 0 0.00148497 0 0 PCLO 27445 broad.mit.edu 37 7 82582358 82582358 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:82582358C>T ENST00000423517.2 - 5 8248 c.7911G>A c.(7909-7911)caG>caA p.Q2637Q PCLO_ENST00000333891.8_Silent_p.Q2637Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2568 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.Q2568H(1)|p.Q2637H(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 TGTAGAAGGTCTGTTCTGAAG 0.458000 33 49 0 0 0.00058488 0 0 ACAN 176 broad.mit.edu 37 15 89400408 89400408 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:89400408G>A ENST00000439576.2 + 12 4966 c.4592G>A c.(4591-4593)gGa>gAa p.G1531E ACAN_ENST00000561243.1_Missense_Mutation_p.G1531E|ACAN_ENST00000352105.7_Missense_Mutation_p.G1531E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1531E NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1531 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) CTCCCTTCTGGAGAAGAAGTT 0.507000 14 27 0 0 0.00185496 0 0 SH2D3C 10044 broad.mit.edu 37 9 130507374 130507374 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:130507374G>A ENST00000314830.8 - 7 1382 c.1269C>T c.(1267-1269)acC>acT p.T423T SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373277.4_Silent_p.T266T|SH2D3C_ENST00000373274.3_Silent_p.T263T|SH2D3C_ENST00000420366.1_Silent_p.T265T|SH2D3C_ENST00000373276.3_Silent_p.T355T|SH2D3C_ENST00000429553.1_Silent_p.T69T NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 423 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 CATGGACACGGGTTACTGCAG 0.627000 5 8 0 0 0.00116845 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159606659 159606659 + Silent SNP A A G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:159606659A>G ENST00000337808.6 + 6 1822 c.1245A>G c.(1243-1245)aaA>aaG p.K415K SCHIP1_ENST00000445224.2_Silent_p.K172K|SCHIP1_ENST00000482804.1_Silent_p.K188K|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.K402K|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.K375K|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.K464K|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.K491K|IQCJ-SCHIP1_ENST00000527095.1_Silent_p.K183K NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 415 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 GAAGTTTAAAACCCACCGACC 0.408000 28 48 0 0 0.001512 0 0 RYR2 6262 broad.mit.edu 37 1 237850796 237850796 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:237850796C>T ENST00000366574.2 + 63 9376 c.9059C>T c.(9058-9060)tCa>tTa p.S3020L RYR2_ENST00000360064.6_Missense_Mutation_p.S3018L|RYR2_ENST00000542537.1_Missense_Mutation_p.S3004L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3020 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATAGGATTTCACTATTTGGT 0.413000 5 20 0 0 0.00116845 0 0 KCNB1 3745 broad.mit.edu 37 20 47990861 47990861 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:47990861G>A ENST00000371741.4 - 2 1402 c.1236C>T c.(1234-1236)atC>atT p.I412I NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 412 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) AGTTATTGACGATGATGGGGA 0.512000 21 59 0 0 0.00188189 0 0 KMO 8564 broad.mit.edu 37 1 241752099 241752099 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:241752099G>A ENST00000366559.4 + 12 1376 c.1065G>A c.(1063-1065)gcG>gcA p.A355A KMO_ENST00000366558.3_Silent_p.A355A|KMO_ENST00000366557.4_Silent_p.A355A NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 355 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity p.A355A(3) NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) ATGATCACGCGATTTCAGACC 0.363000 19 57 0 0 0.00152264 0 0 PADI3 51702 broad.mit.edu 37 1 17603120 17603120 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:17603120G>A ENST00000375460.3 + 12 1454 c.1414G>A c.(1414-1416)Gat>Aat p.D472N NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 472 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GGGCCATGTGGATGAGTTTCT 0.612000 14 35 0 0 0.000566183 0 0 PRSS23 11098 broad.mit.edu 37 11 86518751 86518751 + Missense_Mutation SNP C C A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:86518751C>A ENST00000280258.5 + 2 491 c.66C>A c.(64-66)agC>agA p.S22R PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.S22R NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 22 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GGCAAGTGAGCCCTTACAGTG 0.557000 5 71 0.00116845 0.00516158 0.00116845 1 0 C5orf42 65250 broad.mit.edu 37 5 37157847 37157847 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:37157847G>A ENST00000274258.7 - 40 8163 c.4576C>T c.(4576-4578)Cca>Tca p.P1526S C5orf42_ENST00000425232.2_Missense_Mutation_p.P2628S|C5orf42_ENST00000508244.1_Missense_Mutation_p.P2628S E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2628 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GCAGACGATGGAACTGCTAGA 0.363000 25 58 0 0 0.00127121 0 0 PRR21 643905 broad.mit.edu 37 2 240981381 240981381 + Missense_Mutation SNP G G A rs143332815 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:240981381G>A ENST00000408934.1 - 1 1018 c.1019C>T c.(1018-1020)tCa>tTa p.S340L NM_001080835.1 NP_001074304.1 Q8WXC7 PRR21_HUMAN proline rich 21 340 p.S340L(2) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 29 AGACTTGGATGAAGAGGCATG 0.587000 42 57 0 0 0.00170553 0 0 SLC30A8 169026 broad.mit.edu 37 8 118175718 118175718 + Missense_Mutation SNP T T G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:118175718T>G ENST00000427715.2 + 9 1065 c.631T>G c.(631-633)Ttg>Gtg p.L211V SLC30A8_ENST00000521243.1_Missense_Mutation_p.L211V|SLC30A8_ENST00000519688.1_Missense_Mutation_p.L211V|SLC30A8_ENST00000456015.2_Missense_Mutation_p.L260V NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 260 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CATCCTGGTCTTGGCCAGCAC 0.403000 38 469 0 0 0.000781405 0 0 XIRP2 129446 broad.mit.edu 37 2 167992518 167992518 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:167992518G>A ENST00000409195.1 + 3 597 c.508G>A c.(508-510)Gaa>Aaa p.E170K XIRP2_ENST00000295237.9_Missense_Mutation_p.E170K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E170K|XIRP2_ENST00000409756.2_Missense_Mutation_p.E170K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E170K|XIRP2_ENST00000409728.1_Missense_Mutation_p.E170K|XIRP2-AS1_ENST00000525330.1_RNA NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAAAGGCAAGGAAACATCTTT 0.438000 24 48 0 0 0.000586117 0 0 POU4F2 5458 broad.mit.edu 37 4 147561591 147561591 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:147561591G>A ENST00000281321.3 + 2 1109 c.861G>A c.(859-861)aaG>aaA p.K287K NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 287 POU-specific. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CCAACCTCAAGATCCCCGGCG 0.627000 8 23 0 0 0.000442599 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24257753 24257753 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:24257753C>T ENST00000538205.1 + 12 1392 c.845C>T c.(844-846)cCt>cTt p.P282L RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.P361L|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.P282L NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 361 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CTTGGTATGCCTGATGTTCCA 0.403000 14 31 0 0 0.000308642 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145830929 145830929 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:145830929G>A ENST00000276826.5 - 1 272 c.71C>T c.(70-72)tCg>tTg p.S24L ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S24L|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S24L Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 24 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CCGAGTGTTCGACCCTGGAAT 0.612000 16 29 0 0 0.00121646 0 0 POTEF 728378 broad.mit.edu 37 2 130832816 130832816 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:130832816C>T ENST00000357462.5 - 15 2322 c.2229G>A c.(2227-2229)atG>atA p.M743I POTEF_ENST00000409914.2_Missense_Mutation_p.M743I A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 743 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TGCCCCCCATCATGCCCTGCT 0.617000 20 33 0 0 0.00106085 0 0 KIF13A 63971 broad.mit.edu 37 6 17817358 17817358 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:17817358G>A ENST00000378814.5 - 17 1892 c.1893C>T c.(1891-1893)ctC>ctT p.L631L KIF13A_ENST00000378816.5_Silent_p.L631L|KIF13A_ENST00000378826.2_Silent_p.L631L|KIF13A_ENST00000503342.1_5'UTR|KIF13A_ENST00000378843.2_Silent_p.L631L|KIF13A_ENST00000259711.6_Silent_p.L631L NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 631 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GCTGCTGGCGGAGTTGCTCCA 0.587000 17 26 0 0 0.000566183 0 0 CTD-2090I13.1 0 broad.mit.edu 37 1 227618339 227618339 + RNA SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:227618339C>T ENST00000445817.1 + 0 1574 GGCTGTGGGTCGAAGATATGC 0.502000 12 26 0 0 0.00244969 0 0 ZAN 7455 broad.mit.edu 37 7 100349913 100349913 + RNA SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:100349913G>A ENST00000542585.1 + 0 2333 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CATCCCCACAGAAAAATCCAC 0.522000 12 21 0 0 0.00136819 0 0 WNK1 65125 broad.mit.edu 37 12 971408 971408 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:971408C>T ENST00000537687.1 + 8 2754 c.2111C>T c.(2110-2112)cCc>cTc p.P704L WNK1_ENST00000340908.4_Missense_Mutation_p.P297L|WNK1_ENST00000315939.6_Missense_Mutation_p.P704L|WNK1_ENST00000535572.1_Missense_Mutation_p.P704L|WNK1_ENST00000530271.2_Missense_Mutation_p.P704L NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 704 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CAGTCTCAGCCCCATGGGGTA 0.433000 22 32 0 0 0.000720815 0 0 BCAM 4059 broad.mit.edu 37 19 45323972 45323972 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:45323972G>A ENST00000270233.6 + 14 1796 c.1774G>A c.(1774-1776)Gag>Aag p.E592K NM_001013257.2|NM_005581.4 NP_001013275.1|NP_005572.2 P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 592 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) GCCGCCAGGGGAGCCAGGGCT 0.716000 9 14 0 0 0.00136819 0 0 CNTN5 53942 broad.mit.edu 37 11 100141954 100141954 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:100141954G>A ENST00000524871.1 + 18 2585 c.2295G>A c.(2293-2295)atG>atA p.M765I CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.M691I|CNTN5_ENST00000528682.1_Missense_Mutation_p.M765I|CNTN5_ENST00000279463.3_Missense_Mutation_p.M765I|CNTN5_ENST00000527185.1_Missense_Mutation_p.M765I NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 765 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CATCTCGAATGATCCGCACAA 0.453000 10 10 0 0 0.000673444 0 0 CACNA1E 777 broad.mit.edu 37 1 181765921 181765921 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:181765921C>T ENST00000526775.1 + 45 6305 c.6140C>T c.(6139-6141)gCt>gTt p.A2047V CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1998V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A2066V|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A2109V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A2090V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A2060V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1673V NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2109 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.A2066V(1)|p.A2109V(1) 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 GGGACCCAGGCTGACTGGGAG 0.612000 8 9 0 0 0.000274275 0 0 ZNF230 7773 broad.mit.edu 37 19 44514759 44514759 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:44514759C>T ENST00000429154.2 + 5 796 c.568C>T c.(568-570)Cac>Tac p.H190Y NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) CCAGAGAGTTCACTTGAGAGA 0.463000 40 52 0 0 0.0025221 0 0 IFNLR1 163702 broad.mit.edu 37 1 24484325 24484325 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:24484325G>A ENST00000327575.2 - 6 739 c.727C>T c.(727-729)Cgt>Tgt p.R243C IFNLR1_ENST00000374421.3_Intron|IFNLR1_ENST00000327535.1_Silent_p.S286S NM_173065.2 NP_775088.1 interferon, lambda receptor 1 AGTCATTCACGGACTCTGGTC 0.542000 34 78 0 0 0.00283554 0 0 OR10G9 219870 broad.mit.edu 37 11 123894512 123894512 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:123894512G>A ENST00000375024.1 + 1 793 c.793G>A c.(793-795)Gac>Aac p.D265N NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 265 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) AGGCTCCAGGGACGTCGTGGA 0.522000 34 19 0 0 0.000692331 0 0 SLC6A4 6532 broad.mit.edu 37 17 28538366 28538366 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:28538366G>A ENST00000401766.2 - 9 1793 c.1281C>T c.(1279-1281)ttC>ttT p.F427F SLC6A4_ENST00000261707.3_Silent_p.F427F P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 427 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) ACATCAGAAAGAAGATGATGG 0.537000 25 16 0 0 0.00106085 0 0 IRX2 153572 broad.mit.edu 37 5 2749606 2749606 + Missense_Mutation SNP G G T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:2749606G>T ENST00000382611.6 - 2 793 c.545C>A c.(544-546)cCg>cAg p.P182Q IRX2_ENST00000302057.5_Missense_Mutation_p.P182Q|IRX2_ENST00000502957.1_5'UTR NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 182 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) TTTGTTTCTCGGGGCCCAGGT 0.612000 5 67 0.00198382 0.00873923 0.00198382 1 0 UBASH3B 84959 broad.mit.edu 37 11 122647762 122647762 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:122647762G>A ENST00000284273.5 + 3 621 c.246G>A c.(244-246)ctG>ctA p.L82L NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 82 cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) ACCCCTTCCTGGATGACCCCC 0.547000 15 10 0 0 0.000958276 0 0 DGKI 9162 broad.mit.edu 37 7 137237174 137237174 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:137237174C>T ENST00000453654.1 - 20 1727 c.1188G>A c.(1186-1188)agG>agA p.R396R DGKI_ENST00000288490.5_Silent_p.R696R|DGKI_ENST00000424189.2_Silent_p.R696R|DGKI_ENST00000446122.1_Silent_p.R696R O75912 DGKI_HUMAN diacylglycerol kinase, iota 696 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 TGGCCTGATTCCTCAGGGAGA 0.493000 21 50 0 0 0.00152264 0 0 ADAM22 53616 broad.mit.edu 37 7 87759716 87759716 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:87759716G>A ENST00000398204.4 + 10 1090 c.767G>A c.(766-768)cGg>cAg p.R256Q ADAM22_ENST00000265727.7_Missense_Mutation_p.R256Q|ADAM22_ENST00000398209.3_Missense_Mutation_p.R256Q|ADAM22_ENST00000398201.4_Missense_Mutation_p.R256Q|ADAM22_ENST00000439864.1_Missense_Mutation_p.R256Q|ADAM22_ENST00000315984.7_Missense_Mutation_p.R256Q NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 256 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) AAAAAACATCGGCTTTCCGTT 0.368000 30 59 0 0 0.00058488 0 0 ADAM28 10863 broad.mit.edu 37 8 24207392 24207392 + Missense_Mutation SNP T T G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:24207392T>G ENST00000265769.4 + 19 2116 c.2006T>G c.(2005-2007)gTt>gGt p.V669G RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G417G|RP11-624C23.1_ENST00000523700.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 669 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TCCATTGTGGTTGGGGTGCTG 0.502000 7 124 0 0 0.000157383 0 0 EPHB4 2050 broad.mit.edu 37 7 100421842 100421842 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:100421842G>A ENST00000358173.3 - 2 574 c.106C>T c.(106-108)Cct>Tct p.P36S EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.P36S NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 36 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TCCACCTGAGGGAATGTCACC 0.597000 40 62 0 0 0.000781405 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059832 79059832 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:79059832C>T ENST00000388820.4 - 18 2958 c.2748G>A c.(2746-2748)caG>caA p.Q916Q ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 916 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCAGGGCGCTCTGCTCATCCA 0.706000 8 15 0 0 0.000274275 0 0 RABEP2 79874 broad.mit.edu 37 16 28935917 28935917 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:28935917G>A ENST00000358201.4 - 2 669 c.81C>T c.(79-81)tcC>tcT p.S27S RABEP2_ENST00000357573.6_Silent_p.S27S|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_Intron NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 27 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCCCTTCCTGGGACCGGGAGT 0.617000 8 29 0 0 0.000274275 0 0 CSMD1 64478 broad.mit.edu 37 8 3565998 3565998 + Missense_Mutation SNP T T C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:3565998T>C ENST00000520002.1 - 7 1502 c.947A>G c.(946-948)gAg>gGg p.E316G CSMD1_ENST00000602723.1_Missense_Mutation_p.E316G|CSMD1_ENST00000542608.1_Missense_Mutation_p.E316G|CSMD1_ENST00000602557.1_Missense_Mutation_p.E316G|CSMD1_ENST00000537824.1_Missense_Mutation_p.E316G|CSMD1_ENST00000539096.1_Missense_Mutation_p.E316G|CSMD1_ENST00000400186.3_Missense_Mutation_p.E316G Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 316 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) TGACTTCAACTCAATCGCCTT 0.438000 6 55 0 0 0.000274275 0 0 TTN 7273 broad.mit.edu 37 2 179644115 179644115 + Missense_Mutation SNP T T A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179644115T>A ENST00000589042.1 - 23 4028 c.3804A>T c.(3802-3804)gaA>gaT p.E1268D TTN_ENST00000460472.2_Missense_Mutation_p.E1222D|TTN_ENST00000591111.1_Missense_Mutation_p.E1268D|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E1222D|TTN_ENST00000360870.5_Missense_Mutation_p.E1268D|TTN_ENST00000342992.6_Missense_Mutation_p.E1268D|TTN_ENST00000359218.5_Missense_Mutation_p.E1222D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1268 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) CAAGAAGTTCTTCTAATGTAG 0.299000 11 22 0 0 0.000673444 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106692110 106692110 + RNA SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:106692110G>A ENST00000390607.2 - 0 93 AAACCCAGCGGAGCCCCAGTT 0.498000 46 41 0 0 0.000781405 0 0 ARAP1 116985 broad.mit.edu 37 11 72422542 72422542 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:72422542G>A ENST00000359373.5 - 8 1876 c.1025C>T c.(1024-1026)tCt>tTt p.S342F ARAP1_ENST00000426523.1_Missense_Mutation_p.S97F|ARAP1_ENST00000393605.3_Missense_Mutation_p.S102F|ARAP1_ENST00000393609.3_Missense_Mutation_p.S342F|ARAP1_ENST00000334211.8_Missense_Mutation_p.S97F|ARAP1_ENST00000429686.1_Missense_Mutation_p.S97F|ARAP1_ENST00000455638.2_Missense_Mutation_p.S342F Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 342 PH 1. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 ATAGATGTAAGATCTGGAGAG 0.542000 72 134 0 0 0.000781405 0 0 FAM120B 84498 broad.mit.edu 37 6 170632278 170632278 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:170632278C>T ENST00000476287.1 + 3 1954 c.1846C>T c.(1846-1848)Ccc>Tcc p.P616S FAM120B_ENST00000540480.1_Missense_Mutation_p.P628S|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.P639S NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 616 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) CCAGGCCTTACCCAGCCAGGC 0.502000 26 9 0 0 0.000878237 0 0 ZNF71 58491 broad.mit.edu 37 19 57133224 57133224 + Missense_Mutation SNP A A T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:57133224A>T ENST00000328070.6 + 3 803 c.569A>T c.(568-570)gAc>gTc p.D190V NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 190 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GCCTGCGGGGACTGCGGCAAG 0.637000 22 22 0 0 0.00152264 0 0 SULT1A1 6817 broad.mit.edu 37 16 28619805 28619805 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:28619805G>A ENST00000395609.1 - 5 1026 c.268C>T c.(268-270)Ccc>Tcc p.P90S SULT1A1_ENST00000395607.1_Missense_Mutation_p.P90S|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Missense_Mutation_p.P90S|SULT1A1_ENST00000314752.7_Missense_Mutation_p.P90S P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 90 P -> L (in Ref. 3; AAA67895). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 ACACCTGAGGGAATCCCTGGG 0.587000 10 24 0 0 0.000978159 0 0 ADCY1 107 broad.mit.edu 37 7 45717629 45717629 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:45717629C>T ENST00000297323.7 + 9 1789 c.1767C>T c.(1765-1767)acC>acT p.T589T NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 589 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|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) ACTTCTTTACCCTGAAGTACA 0.567000 17 39 0 0 0.000566183 0 0 ZNFX1 57169 broad.mit.edu 37 20 47881325 47881325 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:47881325G>A ENST00000396105.1 - 5 2325 c.2079C>T c.(2077-2079)acC>acT p.T693T ZNFX1_ENST00000371754.4_Silent_p.T693T|ZNFX1_ENST00000371752.1_Silent_p.T693T NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 693 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCTCCCTTAGGGTGAACTGCT 0.542000 35 65 0 0 0.00058488 0 0 FAM47A 158724 broad.mit.edu 37 X 34149264 34149264 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:34149264C>T ENST00000346193.3 - 1 1183 c.1132G>A c.(1132-1134)Gag>Aag p.E378K NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 378 p.E378*(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTGGAAGGCTCCGCGTGGAGA 0.637000 16 6 0 0 0.000566183 0 0 DRGX 644168 broad.mit.edu 37 10 50594844 50594844 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:50594844C>T ENST00000374139.2 - 4 305 c.295G>A c.(295-297)Gag>Aag p.E99K DRGX_ENST00000434016.1_Missense_Mutation_p.E104K C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 104 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GCTCCTGGCTCCTGGTCTGAG 0.562000 43 32 0 0 0.000781405 0 0 MBD5 55777 broad.mit.edu 37 2 149226884 149226884 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:149226884C>T ENST00000407073.1 + 9 2369 c.1372C>T c.(1372-1374)Caa>Taa p.Q458* MBD5_ENST00000404807.1_Nonsense_Mutation_p.Q458* NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 458 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) GGCATCGCCCCAAAGATCACG 0.512000 10 11 0 0 0.000978159 0 0 RPS2 6187 broad.mit.edu 37 16 2012137 2012137 + Missense_Mutation SNP C C T rs142405634 by1000genomes TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:2012137C>T ENST00000343262.4 - 7 900 c.844G>A c.(844-846)Gtg>Atg p.V282M RPS2_ENST00000529806.1_3'UTR|RPS2_ENST00000526522.1_Missense_Mutation_p.V224M|RPS2_ENST00000530225.1_3'UTR NM_002952.3 NP_002943.2 P15880 RS2_HUMAN ribosomal protein S2 282 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GTCCGCTGCACGGAGACTCTG 0.498000 15 23 0 0 0.000566183 0 0 PYGM 5837 broad.mit.edu 37 11 64525338 64525338 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:64525338C>T ENST00000164139.3 - 5 971 c.573G>A c.(571-573)gaG>gaA p.E191E PYGM_ENST00000377432.3_Silent_p.E103E NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 191 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) GCCGGGCCTTCTCCCAGGGGT 0.612000 12 33 0 0 0.000308642 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76574680 76574680 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:76574680G>A ENST00000307431.8 + 22 3817 c.3432G>A c.(3430-3432)agG>agA p.R1144R CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.R1148R|CNTNAP4_ENST00000478060.1_Silent_p.R1072R|CNTNAP4_ENST00000377504.4_Silent_p.R1096R NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1145 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TATTGGGCAGGATTTTAGGTA 0.388000 4 4 0 0 0.00024832 0 0 SEMA4A 64218 broad.mit.edu 37 1 156130705 156130705 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:156130705C>T ENST00000368285.3 + 8 962 c.695C>T c.(694-696)tCc>tTc p.S232F SEMA4A_ENST00000368286.2_Missense_Mutation_p.S100F|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S232F|SEMA4A_ENST00000355014.2_Missense_Mutation_p.S232F|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S100F 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 232 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) GATGACGCCTCCTTTGTGGCA 0.602000 42 52 0 0 0.00195071 0 0 HOXA5 3202 broad.mit.edu 37 7 27181684 27181684 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:27181684C>T ENST00000222726.3 - 2 643 c.583G>A c.(583-585)Ggc>Agc p.G195S HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'UTR NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 195 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 GCCCTTTTGCCTTCCGGGCCG 0.567000 OREG0017911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 28 0 0 0.000673444 0 0 DISC1 27185 broad.mit.edu 37 1 231858340 231858340 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:231858340C>T ENST00000317586.4 + 3 1156 c.1103C>T c.(1102-1104)tCc>tTc p.S368F DISC1_ENST00000602281.1_Intron|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000535983.1_Intron|DISC1_ENST00000539444.1_Intron|TRAX_ENST00000602962.1_Intron|DISC1_ENST00000439617.2_Intron|DISC1_ENST00000366636.4_Intron|DISC1_ENST00000366633.3_Intron|DISC1_ENST00000366637.3_Intron|DISC1_ENST00000602873.1_Intron NM_001012958.1 NP_001012976.1 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 0 Interaction with TRAF3IP1. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GAACCAAACTCCTATTAATGA 0.393000 16 38 0 0 0.00074312 0 0 EYA2 2139 broad.mit.edu 37 20 45808552 45808552 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:45808552C>T ENST00000327619.5 + 13 1679 c.1305C>T c.(1303-1305)atC>atT p.I435I EYA2_ENST00000317304.6_Silent_p.I405I|EYA2_ENST00000357410.3_Intron NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 435 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) TAAACCTCATCAACTCCCGGC 0.557000 7 18 0 0 0.000274275 0 0 C2orf54 79919 broad.mit.edu 37 2 241831074 241831074 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:241831074C>T ENST00000307486.8 - 2 272 c.174G>A c.(172-174)agG>agA p.R58R C2orf54_ENST00000402775.2_Silent_p.R39R|C2orf54_ENST00000388934.4_Silent_p.R207R Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 207 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) CCCCAAGCTTCCTTCTCACCA 0.652000 23 30 0 0 0.00047179 0 0 OR6C1 390321 broad.mit.edu 37 12 55715045 55715045 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:55715045G>A ENST00000379668.2 + 1 700 c.662G>A c.(661-663)aGa>aAa p.R221K NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TACATTATCAGAACAATTTTG 0.383000 28 15 0 0 0.00106085 0 0 PADI1 29943 broad.mit.edu 37 1 17557156 17557156 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:17557156C>T ENST00000375471.4 + 10 1235 c.1143C>T c.(1141-1143)ttC>ttT p.F381F NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 381 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TGAAAGATTTCCCCTATAAGA 0.567000 7 11 0 0 0.000157383 0 0 FKBP15 23307 broad.mit.edu 37 9 115947059 115947059 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:115947059G>A ENST00000238256.3 - 16 1641 c.1524C>T c.(1522-1524)ctC>ctT p.L508L NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 508 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CTTCAGTCATGAGAAATGAAG 0.413000 6 4 0 0 0.00198382 0 0 SEZ6L 23544 broad.mit.edu 37 22 26690291 26690291 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:26690291G>A ENST00000529632.2 + 3 1065 c.869G>A c.(868-870)gGg>gAg p.G290E SEZ6L_ENST00000402979.1_Missense_Mutation_p.G63E|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G63E|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G290E|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G290E|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G290E|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G290E 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 290 CUB 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 AATCCTGAGGGGTACATTGAC 0.517000 27 57 0 0 0.00178596 0 0 SCN11A 11280 broad.mit.edu 37 3 38888196 38888196 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:38888196G>A ENST00000450244.1 - 26 5563 c.5365C>T c.(5365-5367)Cac>Tac p.H1789Y SCN11A_ENST00000456224.3_Missense_Mutation_p.H1751Y|SCN11A_ENST00000302328.3_Missense_Mutation_p.H1789Y Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1789 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) CAGTCACAGTGGACCTTGCCC 0.547000 20 19 0 0 0.00278032 0 0 TTC17 55761 broad.mit.edu 37 11 43469611 43469611 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:43469611C>T ENST00000039989.4 + 19 2739 c.2725C>T c.(2725-2727)Cgc>Tgc p.R909C NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 909 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CCTCAAACTCCGCTGGGTAGA 0.483000 20 25 0 0 0.000958276 0 0 OR5L1 219437 broad.mit.edu 37 11 55579818 55579818 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:55579818G>A ENST00000333973.2 + 1 965 c.876G>A c.(874-876)ctG>ctA p.L292L NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TCTACAGCCTGAGAAATAAAG 0.443000 18 20 0 0 0.00152264 0 0 CPA3 1359 broad.mit.edu 37 3 148599379 148599379 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:148599379C>T ENST00000296046.3 + 7 699 c.647C>T c.(646-648)cCt>cTt p.P216L RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 216 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TACATTCTTCCTGTGTTCAAT 0.343000 10 38 0 0 0.00136819 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518865 113518865 + Missense_Mutation SNP C C T rs62001880 byFrequency TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:113518865C>T ENST00000284601.3 - 4 2350 c.2282G>A c.(2281-2283)cGa>cAa p.R761Q NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 761 glycogen metabolic process integral to membrane p.R761Q(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CCTGTCACTTCGTGCTGTCTC 0.413000 36 81 0 0 0.00222228 0 0 ATP8A1 10396 broad.mit.edu 37 4 42545962 42545962 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:42545962C>T ENST00000381668.5 - 20 1925 c.1694G>A c.(1693-1695)gGa>gAa p.G565E ATP8A1_ENST00000264449.10_Missense_Mutation_p.G550E NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 565 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TCGTAACTTTCCAGATGGAGT 0.328000 18 28 0 0 0.000958276 0 0 SERPINB2 5055 broad.mit.edu 37 18 61564961 61564961 + Splice_Site SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:61564961G>A ENST00000457692.1 + 6 751 c.417_splice c.e6-1 p.E140_splice SERPINB2_ENST00000299502.4_Splice_Site_p.E140_splice|SERPINB2_ENST00000482254.1_3'UTR NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 140 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) TGCTTTAAAGGAATATATTCG 0.378000 21 36 0 0 0.000586117 0 0 DEFA4 1669 broad.mit.edu 37 8 6794346 6794346 + Missense_Mutation SNP C C A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:6794346C>A ENST00000297435.2 - 2 200 c.76G>T c.(76-78)Ggt>Tgt p.G26C NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 26 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) GCCTCATCACCTCTTGCCTGG 0.577000 16 35 1.5739e-10 7.011e-10 0.000422831 1 0 DHCR7 1717 broad.mit.edu 37 11 71146507 71146507 + Missense_Mutation SNP C C T rs80338864 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:71146507C>T ENST00000355527.3 - 9 1618 c.1342G>A c.(1342-1344)Gag>Aag p.E448K DHCR7_ENST00000407721.2_Missense_Mutation_p.E448K NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 448 E -> K (in SLOS; mild).|E -> Q (in SLOS). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) CAGCGGTGCTCGTCCCGGAGG 0.667000 Smith-Lemli-Opitz syndrome 21 20 0 0 0.00152264 0 0 DGKG 1608 broad.mit.edu 37 3 185997672 185997672 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:185997672G>A ENST00000265022.3 - 9 1299 c.760C>T c.(760-762)Cca>Tca p.P254S DGKG_ENST00000344484.4_Missense_Mutation_p.P254S|DGKG_ENST00000544847.1_Missense_Mutation_p.P254S|DGKG_ENST00000382164.4_Missense_Mutation_p.P254S NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 254 EF-hand 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) ACCAGCAATGGGATGGTGGTC 0.498000 32 40 0 0 0.001512 0 0 NAV3 89795 broad.mit.edu 37 12 78593243 78593243 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:78593243G>A ENST00000397909.2 + 37 6820 c.6647G>A c.(6646-6648)tGg>tAg p.W2216* NAV3_ENST00000228327.6_Nonsense_Mutation_p.W2194*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.W2017*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.W2194*|NAV3_ENST00000541270.1_Nonsense_Mutation_p.W46* Q8IVL0 NAV3_HUMAN neuron navigator 3 2216 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity 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 ATTATAGATTGGATTCCGAAG 0.363000 HNSCC(70;0.22) 37 23 0 0 0.00148497 0 0 ERC2 26059 broad.mit.edu 37 3 56468884 56468884 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:56468884G>A ENST00000288221.6 - 2 407 c.152C>T c.(151-153)tCc>tTc p.S51F NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 51 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) TGCATTGAGGGACTGGATATT 0.532000 26 36 0 0 0.000878237 0 0 MUC5AC 4586 broad.mit.edu 37 11 1162342 1162342 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:1162342C>T ENST00000356191.2 + 20 1842 c.1842C>T c.(1840-1842)tgC>tgT p.614_614insC mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) AGGACCCCTGCTCTCTGAGCG 0.652000 6 15 0 0 0.00116845 0 0 SOGA2 23255 broad.mit.edu 37 18 8825578 8825578 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:8825578C>T ENST00000359865.3 + 15 4212 c.4070C>T c.(4069-4071)cCc>cTc p.P1357L SOGA2_ENST00000306329.11_Missense_Mutation_p.P1676L|SOGA2_ENST00000518815.1_Missense_Mutation_p.P682L|SOGA2_ENST00000400050.3_Missense_Mutation_p.P1316L|SOGA2_ENST00000306285.7_Missense_Mutation_p.P682L|SOGA2_ENST00000517570.1_Missense_Mutation_p.P1316L NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1667 GGTGCTACACCCGTGTCGTCT 0.617000 13 11 0 0 0.00185496 0 0 SLC24A1 9187 broad.mit.edu 37 15 65916838 65916838 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:65916838G>A ENST00000261892.6 + 2 707 c.420G>A c.(418-420)agG>agA p.R140R SLC24A1_ENST00000537259.1_Silent_p.R140R|SLC24A1_ENST00000544319.2_Silent_p.R140R|SLC24A1_ENST00000399033.4_Silent_p.R140R|SLC24A1_ENST00000339868.6_Silent_p.R140R|SLC24A1_ENST00000546330.1_Silent_p.R140R NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 140 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 CAGAAAGAAGGAAGGAAGACA 0.438000 5 11 0 0 0.000602214 0 0 CHRNA1 1134 broad.mit.edu 37 2 175613332 175613332 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:175613332C>T ENST00000348749.5 - 8 1295 c.1218G>A c.(1216-1218)atG>atA p.M406I CHRNA1_ENST00000409219.1_Intron|CHRNA1_ENST00000261007.5_Missense_Mutation_p.M431I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.M324I NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 431 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 GGTCTGACTTCATGGTCTCTG 0.507000 OREG0015079 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 39 0 0 0.00152264 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50664720 50664720 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:50664720G>A ENST00000439308.2 - 8 2181 c.1689C>T c.(1687-1689)ttC>ttT p.F563F TUBGCP6_ENST00000248846.5_Silent_p.F563F NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 563 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-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) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) ACCTACCTCGGAAGCTGAGGT 0.612000 11 14 0 0 0.000673444 0 0 DNAH7 56171 broad.mit.edu 37 2 196891526 196891526 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:196891526C>T ENST00000312428.6 - 7 725 c.625G>A c.(625-627)Gaa>Aaa p.E209K DNAH7_ENST00000410072.1_Missense_Mutation_p.E209K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 209 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCTCTCATTTCATCAGATAAT 0.338000 17 32 0 0 0.000958276 0 0 SORT1 6272 broad.mit.edu 37 1 109859567 109859567 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:109859567G>A ENST00000256637.6 - 17 2213 c.2155C>T c.(2155-2157)Cca>Tca p.P719S SORT1_ENST00000538502.1_Missense_Mutation_p.P582S NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 719 Interactions with LRPAP1 and NGFB. endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) TTGTCCCCTGGAATTTTCCGG 0.413000 126 225 0 0 0.000781405 0 0 HERC2 8924 broad.mit.edu 37 15 28408300 28408300 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:28408300C>T ENST00000261609.7 - 69 10794 c.10686G>A c.(10684-10686)ggG>ggA p.G3562G NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3562 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) TGCCCCTGTCCCCGGCCCGGC 0.647000 17 42 0 0 0.000566183 0 0 OR2T3 343173 broad.mit.edu 37 1 248637223 248637223 + Missense_Mutation SNP A A C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:248637223A>C ENST00000359594.2 + 1 597 c.572A>C c.(571-573)aAg>aCg p.K191T NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCCTGCTGAAGCTCTCCTGC 0.512000 5 152 0 0 0.00116845 0 0 PRSS54 221191 broad.mit.edu 37 16 58314233 58314233 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:58314233C>T ENST00000219301.4 - 7 1477 c.1083G>A c.(1081-1083)ggG>ggA p.G361G PRSS54_ENST00000567164.1_Silent_p.G361G|CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000543437.1_Silent_p.G262G|CCDC113_ENST00000219299.4_3'UTR NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 361 proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CCCCCACCTCCCCACCGTAAT 0.463000 13 33 0 0 0.00185496 0 0 DSG3 1830 broad.mit.edu 37 18 29046629 29046629 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:29046629G>A ENST00000257189.4 + 11 1631 c.1548G>A c.(1546-1548)ctG>ctA p.L516L NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 516 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.L516L(1) 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) CTAGAACACTGAATAATAGAT 0.443000 35 67 0 0 0.00283554 0 0 WDFY3 23001 broad.mit.edu 37 4 85676491 85676491 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:85676491G>A ENST00000322366.6 - 34 5894 c.5487C>T c.(5485-5487)gtC>gtT p.V1829V WDFY3_ENST00000295888.4_Silent_p.V1829V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1829 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GGATAGAAGAGACCACAGTTC 0.443000 29 30 0 0 0.00209593 0 0 OR51G2 81282 broad.mit.edu 37 11 4936151 4936151 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:4936151G>A ENST00000322013.3 - 1 771 c.743C>T c.(742-744)tCc>tTc p.S248F MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) ACAGATGTGGGAAACACAGGT 0.552000 31 49 0 0 0.00283554 0 0 SLC36A1 206358 broad.mit.edu 37 5 150838400 150838400 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:150838400C>T ENST00000243389.3 + 2 270 c.47C>T c.(46-48)tCc>tTc p.S16F SLC36A1_ENST00000521925.1_Missense_Mutation_p.S16F|SLC36A1_ENST00000520701.1_Missense_Mutation_p.S16F|SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000429484.2_Missense_Mutation_p.S16F NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 16 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) GACTACAGCTCCACGGACGTG 0.592000 27 8 0 0 0.000586117 0 0 NTRK3 4916 broad.mit.edu 37 15 88524568 88524568 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:88524568G>A ENST00000317501.3 - 14 1770 c.1609C>T c.(1609-1611)Cat>Tat p.H537Y NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.H537Y NM_001007156.2 NP_001007157.1 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 0 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) aatatcccatgattgtctatg 0.413000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 27 44 0 0 0.000720815 0 0 ITGA10 8515 broad.mit.edu 37 1 145531024 145531024 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:145531024C>T ENST00000369304.3 + 7 931 c.756C>T c.(754-756)gcC>gcT p.A252A ITGA10_ENST00000539363.1_Silent_p.A109A|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Silent_p.A121A NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 252 VWFA. 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) TAATGGTGGCCTGGTGAGGCA 0.557000 9 35 0 0 0.000978159 0 0 IPP 3652 broad.mit.edu 37 1 46195343 46195343 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:46195343G>A ENST00000396478.3 - 4 925 c.823C>T c.(823-825)Ctg>Ttg p.L275L NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 275 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) GATGTCTGCAGAAAACTACAA 0.373000 32 54 0 0 0.000953801 0 0 OR4A47 403253 broad.mit.edu 37 11 48510399 48510399 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:48510399C>T ENST00000446524.1 + 1 131 c.55C>T c.(55-57)Cca>Tca p.P19S NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 CACACAGAATCCAAAGGAGCA 0.418000 10 23 0 0 0.000978159 0 0 WBSCR17 64409 broad.mit.edu 37 7 70597977 70597977 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:70597977C>T ENST00000333538.5 + 1 823 c.189C>T c.(187-189)gtC>gtT p.V63V NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 63 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGGATGCGGTCCTGAAGCGCC 0.726000 6 10 0 0 0.00116845 0 0 FBXO22 26263 broad.mit.edu 37 15 76225279 76225279 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:76225279C>T ENST00000308275.3 + 7 1153 c.1048C>T c.(1048-1050)Cct>Tct p.P350S FBXO22_ENST00000540507.1_Missense_Mutation_p.P246S NM_147188.2 NP_671717.1 Q8NEZ5 FBX22_HUMAN F-box protein 22 350 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 AAAGTTTTTTCCTAGTGTTCC 0.413000 24 52 0 0 0.00106085 0 0 OR2F1 26211 broad.mit.edu 37 7 143657954 143657954 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:143657954G>A ENST00000392899.1 + 1 928 c.891G>A c.(889-891)gtG>gtA p.V297V NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) ATAAAGAGGTGAAGGGGGCCT 0.433000 18 31 0 0 0.00152264 0 0 MYO3B 140469 broad.mit.edu 37 2 171259451 171259451 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:171259451C>T ENST00000334231.6 + 19 2250 c.2250C>T c.(2248-2250)atC>atT p.I750I MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.I741I|MYO3B_ENST00000409044.3_Silent_p.I741I Q8WXR4 MYO3B_HUMAN myosin IIIB 741 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 GCATAAACATCGCCAATGAGC 0.408000 15 47 0 0 0.00244969 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348852 30348852 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:30348852G>A ENST00000327564.7 + 1 829 c.768G>A c.(766-768)atG>atA p.M256I LRRC37B_ENST00000543378.2_Missense_Mutation_p.M147I|LRRC37B_ENST00000394713.3_Missense_Mutation_p.M229I|LRRC37B_ENST00000341671.7_Missense_Mutation_p.M229I|LRRC37B_ENST00000584368.1_Missense_Mutation_p.M241I Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 229 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ATTTGAGTATGGACACACTGT 0.498000 45 25 0 0 0.000680045 0 0 DCC 1630 broad.mit.edu 37 18 50683833 50683833 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:50683833G>A ENST00000442544.2 + 8 1985 c.1369G>A c.(1369-1371)Ggg>Agg p.G457R DCC_ENST00000581580.1_Missense_Mutation_p.G112R|DCC_ENST00000412726.1_Missense_Mutation_p.G305R NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 457 Fibronectin type-III 1. 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) AGAAGCGAAAGGGAACATTCA 0.498000 26 41 0 0 0.000720815 0 0 LOXL2 4017 broad.mit.edu 37 8 23155621 23155621 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:23155621C>T ENST00000389131.3 - 14 2629 c.2260G>A c.(2260-2262)Gaa>Aaa p.E754K NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 754 aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) TCCGTCTCTTCGCTGAAGGAA 0.557000 19 17 0 0 0.00152264 0 0 SRL 6345 broad.mit.edu 37 16 4242577 4242577 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:4242577G>A ENST00000399609.3 - 6 1011 c.999C>T c.(997-999)atC>atT p.I333I SRL_ENST00000537996.1_Silent_p.I291I NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 792 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 CGTGCTGGCGGATGAAGGCAA 0.537000 46 88 0 0 0.000781405 0 0 BEST3 144453 broad.mit.edu 37 12 70087528 70087528 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:70087528G>A ENST00000330891.5 - 4 633 c.407C>T c.(406-408)tCc>tTc p.S136F BEST3_ENST00000266661.4_Missense_Mutation_p.S30F|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000551160.1_Missense_Mutation_p.S30F|BEST3_ENST00000393365.1_Missense_Mutation_p.S30F|BEST3_ENST00000331471.4_Missense_Mutation_p.S136F|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000553096.1_Missense_Mutation_p.S30F NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 136 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) GATGAGCAGGGAGGTGAGATT 0.522000 55 35 0 0 0.000781405 0 0 DNAH7 56171 broad.mit.edu 37 2 196661442 196661442 + Missense_Mutation SNP A A G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:196661442A>G ENST00000312428.6 - 56 10473 c.10373T>C c.(10372-10374)cTt>cCt p.L3458P NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3458 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TAAAGAGCTAAGTTTTGATCC 0.348000 5 42 0 0 0.000602214 0 0 RRAS 6237 broad.mit.edu 37 19 50139924 50139924 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:50139924G>A ENST00000246792.3 - 4 507 c.405C>T c.(403-405)ttC>ttT p.F135F NM_006270.3 NP_006261.1 P10301 RRAS_HUMAN related RAS viral (r-ras) oncogene homolog 135 axon guidance|Ras protein signal transduction|synaptic transmission intracellular|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|lung(2)|ovary(2) 6 OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206) ACACAACGGGGAAGTCGTCGC 0.607000 9 25 0 0 0.000274275 0 0 POGLUT1 56983 broad.mit.edu 37 3 119190197 119190197 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:119190197C>T ENST00000295588.4 + 3 302 c.218C>T c.(217-219)tCc>tTc p.S73F NM_152305.2 NP_689518.1 Q8NBL1 PGLT1_HUMAN protein O-glucosyltransferase 1 73 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 GGAGGCATCTCCAGGAAGATG 0.502000 47 75 0 0 0.000781405 0 0 MED12 9968 broad.mit.edu 37 X 70356322 70356322 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:70356322G>A ENST00000333646.6 + 37 5416 c.5217G>A c.(5215-5217)ctG>ctA p.L1739L MED12_ENST00000374080.3_Silent_p.L1739L|MED12_ENST00000374102.1_Silent_p.L1739L|MED12_ENST00000478889.1_Intron NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1739 Interaction with CTNNB1 and GLI3.|Pro-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CCTATTACCTGGAGCCACTGC 0.637000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 9 3 0 0 0.000442599 0 0 BSN 8927 broad.mit.edu 37 3 49692341 49692341 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:49692341C>T ENST00000296452.4 + 5 5466 c.5352C>T c.(5350-5352)gcC>gcT p.A1784A NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1784 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) TCCAGACAGCCCCATACCGAA 0.592000 22 10 0 0 0.00278032 0 0 HOXB5 3215 broad.mit.edu 37 17 46670776 46670776 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:46670776G>A ENST00000239151.5 - 1 547 c.269C>T c.(268-270)tCg>tTg p.S90L HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000492897.3_RNA NM_002147.3 NP_002138.1 P09067 HXB5_HUMAN homeobox B5 90 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 GGAGCAGCTCGAAGCCGCTTG 0.726000 12 1 0 0 0.000978159 0 0 MUC16 94025 broad.mit.edu 37 19 9091259 9091259 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:9091259G>A ENST00000397910.4 - 1 759 c.556C>T c.(556-558)Cct>Tct p.P186S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 186 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P186S(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 ATTTTTACAGGAATATATCTT 0.473000 29 22 0 0 0.00127121 0 0 PTPRU 10076 broad.mit.edu 37 1 29581881 29581881 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:29581881C>T ENST00000373779.3 + 2 297 c.168C>T c.(166-168)atC>atT p.I56I PTPRU_ENST00000345512.3_Silent_p.I56I|PTPRU_ENST00000460170.2_Silent_p.I56I|PTPRU_ENST00000428026.2_Silent_p.I56I|PTPRU_ENST00000356870.3_Silent_p.I56I|PTPRU_ENST00000323874.8_Silent_p.I56I NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 56 MAM. 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) AAGTGCGAATCCACCCTGGCA 0.612000 19 38 0 0 0.00152264 0 0 NXPE1 120400 broad.mit.edu 37 11 114401507 114401507 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:114401507C>T ENST00000536312.1 - 6 1115 c.223G>A c.(223-225)Gaa>Aaa p.E75K NXPE1_ENST00000424269.1_Missense_Mutation_p.E75K|NXPE1_ENST00000251921.2_5'UTR neurexophilin and PC-esterase domain family, member 1 TCTATGATTTCCTTTATTCTG 0.463000 26 26 0 0 0.0024448 0 0 DUOX2 50506 broad.mit.edu 37 15 45398334 45398334 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:45398334C>T ENST00000389039.6 - 17 2522 c.2137G>A c.(2137-2139)Gag>Aag p.E713K DUOX2_ENST00000603300.1_Missense_Mutation_p.E713K Q9NRD8 DUOX2_HUMAN dual oxidase 2 713 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGGTCATACTCCTTAGGGATC 0.597000 9 14 0 0 0.000274275 0 0 GRM7 2917 broad.mit.edu 37 3 7620951 7620951 + Missense_Mutation SNP A A C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:7620951A>C ENST00000486284.1 + 8 2632 c.2358A>C c.(2356-2358)gaA>gaC p.E786D GRM7_ENST00000403881.1_Missense_Mutation_p.E786D|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.E786D|GRM7_ENST00000357716.4_Missense_Mutation_p.E786D|GRM7_ENST00000402647.2_Missense_Mutation_p.E786D NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 786 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) ATTTTAACGAAGCCAAGCCCA 0.433000 4 24 0 0 0.000602214 0 0 TRIM46 80128 broad.mit.edu 37 1 155156512 155156512 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:155156512C>T ENST00000368382.1 + 10 2194 c.2057C>T c.(2056-2058)tCc>tTc p.S686F TRIM46_ENST00000334634.4_Missense_Mutation_p.S709F|TRIM46_ENST00000545012.1_Missense_Mutation_p.S583F|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4 NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3 Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 709 B30.2/SPRY. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GATGCTGTTTCCTTCCGTGGG 0.662000 15 16 0 0 0.00074312 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144062336 144062336 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:144062336C>T ENST00000056217.5 + 2 2748 c.2574C>T c.(2572-2574)tcC>tcT p.S858S NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 858 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) CCCCAAAGTCCAGGGGGAGGA 0.587000 7 61 0 0 0.000274275 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166281 180166281 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:180166281G>A ENST00000307832.2 - 1 818 c.778C>T c.(778-780)Caa>Taa p.Q260* NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGATGGATTGGAGATATGTG 0.423000 92 40 0 0 0.000781405 0 0 ACADS 35 broad.mit.edu 37 12 121176354 121176354 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:121176354C>T ENST00000242592.4 + 7 965 c.814C>T c.(814-816)Cgc>Tgc p.R272C ACADS_ENST00000411593.2_Missense_Mutation_p.R268C NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain 272 Substrate binding. mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) GGACATGGGCCGCATCGGCAT 0.706000 94 35 0 0 0.000781405 0 0 MSR1 4481 broad.mit.edu 37 8 16001079 16001079 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:16001079C>T ENST00000350896.3 - 8 1218 c.1021G>A c.(1021-1023)Gga>Aga p.G341R MSR1_ENST00000536385.1_Missense_Mutation_p.G115R|MSR1_ENST00000381998.4_Missense_Mutation_p.G341R|MSR1_ENST00000445506.2_Missense_Mutation_p.G359R|MSR1_ENST00000262101.5_Missense_Mutation_p.G341R|MSR1_ENST00000355282.2_Missense_Mutation_p.G341R NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 404 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) AATGTGTTTCCACTCCCCTTT 0.348000 19 37 0 0 0.00047179 0 0 ZC4H2 55906 broad.mit.edu 37 X 64139036 64139036 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:64139036G>A ENST00000545618.1 - 5 995 c.432C>T c.(430-432)ccC>ccT p.P144P ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.P126P|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000374839.3_Silent_p.P149P Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 149 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CAGGGATGGGGGGCTCCTGAG 0.562000 17 5 0 0 0.00121646 0 0 CTNNA2 1496 broad.mit.edu 37 2 80540772 80540772 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:80540772G>A ENST00000343114.3 + 1 269 c.86G>A c.(85-87)gGa>gAa p.G29E CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 0 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 ACCATGTCTGGAGCACAGGTA 0.423000 10 7 0 0 0.000673444 0 0 OR10A4 283297 broad.mit.edu 37 11 6898405 6898405 + Missense_Mutation SNP A A G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:6898405A>G ENST00000379829.2 + 1 550 c.527A>G c.(526-528)aAc>aGc p.N176S NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AACAGGGTGAACCACTTCTTC 0.522000 24 50 0 0 0.000878237 0 0 SLFN12 55106 broad.mit.edu 37 17 33738894 33738894 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:33738894G>A ENST00000394562.1 - 6 1723 c.1200C>T c.(1198-1200)ttC>ttT p.F400F SLFN12_ENST00000452764.3_Silent_p.F400F|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000304905.5_Silent_p.F400F Q8IYM2 SLN12_HUMAN schlafen family member 12 400 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CATGTTGTAAGAACAGTTTTC 0.378000 49 31 0 0 0.000781405 0 0 USP16 10600 broad.mit.edu 37 21 30409680 30409680 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr21:30409680G>A ENST00000334352.4 + 7 763 c.532G>A c.(532-534)Gaa>Aaa p.E178K USP16_ENST00000399976.2_Missense_Mutation_p.E178K|USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.E177K NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 178 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 AGAAAAGAAGGAAAACATGGC 0.318000 24 27 0 0 0.00047179 0 0 DHX34 9704 broad.mit.edu 37 19 47858352 47858352 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:47858352C>T ENST00000328771.4 + 3 1111 c.762C>T c.(760-762)ttC>ttT p.F254F NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 254 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGATTGTATTCCTGACAGTGG 0.582000 29 40 0 0 0.001512 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114450741 114450741 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:114450741C>T ENST00000369563.3 + 3 912 c.466C>T c.(466-468)Cct>Tct p.P156S DCLRE1B_ENST00000466480.1_3'UTR NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 156 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 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) CCTGGTTCTTCCTTCCCGACA 0.463000 Other identified genes with known or suspected DNA repair function 30 66 0 0 0.00283554 0 0 SON 6651 broad.mit.edu 37 21 34927526 34927526 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr21:34927526C>T ENST00000356577.4 + 3 6464 c.5989C>T c.(5989-5991)Cgc>Tgc p.R1997C SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.R1997C|SON_ENST00000300278.4_Missense_Mutation_p.R1997C|SON_ENST00000381679.4_Missense_Mutation_p.R1997C NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 1997 2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S. 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 caccccaagccgccgGAGAAG 0.642000 20 40 0 0 0.00152264 0 0 HERC1 8925 broad.mit.edu 37 15 63970335 63970335 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:63970335G>A ENST00000443617.2 - 37 6866 c.6779C>T c.(6778-6780)tCg>tTg p.S2260L RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2260 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GCTCTGAACCGAGCGGCTTTT 0.428000 27 29 0 0 0.00127121 0 0 TTN 7273 broad.mit.edu 37 2 179428836 179428836 + Silent SNP C C A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179428836C>A ENST00000589042.1 - 326 82247 c.82023G>T c.(82021-82023)cgG>cgT p.R27341R TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.R18276R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.R25700R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.R18468R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.R24773R|TTN_ENST00000359218.5_Silent_p.R18401R|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25700 Fibronectin type-III 99. 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) CTCCATCAGTCCGTATACAGT 0.393000 86 144 7.61764e-41 3.41721e-40 0.000781405 1 0 FAM173B 134145 broad.mit.edu 37 5 10239213 10239213 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:10239213G>A ENST00000511437.1 - 2 284 c.272C>T c.(271-273)tCc>tTc p.S91F FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.S91F NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 91 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 GTCCACAAGGGATCCTCTTCG 0.418000 55 89 0 0 0.000781405 0 0 KRTAP17-1 83902 broad.mit.edu 37 17 39471884 39471884 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:39471884C>T ENST00000334202.3 - 1 63 c.19G>A c.(19-21)Gac>Aac p.D7N NM_031964.1 NP_114170.1 Q9BYP8 KR171_HUMAN keratin associated protein 17-1 7 intermediate filament haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GTGAAGCAGTCCCCCGGGCAG 0.677000 13 5 0 0 0.00244969 0 0 PKP3 11187 broad.mit.edu 37 11 396968 396968 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:396968C>T ENST00000331563.2 + 3 543 c.467C>T c.(466-468)cCc>cTc p.P156L PKP3_ENST00000530695.1_3'UTR NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 156 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) CCCACCCCTCCCATGCCCACC 0.716000 4 12 0 0 0.00024832 0 0 HS3ST3B1 9953 broad.mit.edu 37 17 14205243 14205243 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:14205243G>A ENST00000360954.2 + 1 844 c.408G>A c.(406-408)caG>caA p.Q136Q NM_006041.1 NP_006032.1 Q9Y662 HS3SB_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 136 heparan sulfate proteoglycan biosynthetic process, enzymatic modification Golgi membrane|integral to plasma membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity large_intestine(3)|lung(3)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) GGAGCAAGCAGCTGCCGCAGG 0.697000 4 6 0 0 0.00024832 0 0 OR51B5 282763 broad.mit.edu 37 11 5364484 5364484 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:5364484C>T ENST00000300773.2 - 1 325 c.271G>A c.(271-273)Gga>Aga p.G91R HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCGCACTTCCAATCTCCCTG 0.552000 17 21 0 0 0.000422831 0 0 F9 2158 broad.mit.edu 37 X 138644029 138644029 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:138644029C>T ENST00000218099.2 + 8 1192 c.1185C>T c.(1183-1185)ttC>ttT p.F395F F9_ENST00000394090.2_Silent_p.F357F NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 395 Peptidase S1. F -> I (in HEMB).|F -> L (in HEMB). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity p.F395L(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) ACAACATGTTCTGTGCTGGCT 0.443000 60 14 0 0 0.000781405 0 0 IL21 59067 broad.mit.edu 37 4 123533869 123533869 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:123533869G>A ENST00000264497.3 - 5 542 c.485C>T c.(484-486)tCc>tTc p.S162F NM_001207006.2|NM_021803.3 NP_001193935.1|NP_068575.1 Q9HBE4 IL21_HUMAN interleukin 21 155 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 AGATCCTCAGGAATCTTCACT 0.373000 10 26 0 0 0.000673444 0 0 CYP4A11 1579 broad.mit.edu 37 1 47399653 47399653 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:47399653G>A ENST00000310638.4 - 9 1218 c.1187C>T c.(1186-1188)cCc>cTc p.P396L CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.P397L|CYP4A11_ENST00000371905.1_Missense_Mutation_p.P396L|CYP4A11_ENST00000475477.1_5'UTR NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 396 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) GAAGGTGACGGGAGTGCTGAG 0.582000 10 25 0 0 0.00136819 0 0 KRT24 192666 broad.mit.edu 37 17 38854792 38854792 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:38854792C>T ENST00000264651.2 - 7 1528 c.1472G>A c.(1471-1473)cGa>cAa p.R491Q NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 491 Tail. cytoplasm|intermediate filament structural molecule activity p.R491Q(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) AAGTCTACCTCGTCCTTGACC 0.363000 69 55 0 0 0.000781405 0 0 ESYT2 57488 broad.mit.edu 37 7 158528282 158528282 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:158528282G>A ENST00000251527.5 - 20 2563 c.2498C>T c.(2497-2499)tCg>tTg p.S833L ESYT2_ENST00000435514.2_Missense_Mutation_p.S268L NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 861 C2 3. integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TTCTGGTAACGAAACACTGAA 0.438000 30 51 0 0 0.00170553 0 0 STARD6 147323 broad.mit.edu 37 18 51855774 51855774 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:51855774G>A ENST00000581310.1 - 8 795 c.422C>T c.(421-423)tCa>tTa p.S141L STARD6_ENST00000580990.2_Intron|STARD6_ENST00000307844.3_Missense_Mutation_p.S141L P59095 STAR6_HUMAN StAR-related lipid transfer (START) domain containing 6 141 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) GATATAATTTGAAGATGGAGG 0.323000 52 133 0 0 0.000781405 0 0 VCAN 1462 broad.mit.edu 37 5 82833328 82833328 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:82833328C>T ENST00000265077.3 + 8 5071 c.4506C>T c.(4504-4506)ccC>ccT p.P1502P VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.P515P|VCAN_ENST00000513016.1_3'UTR NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1502 GAG-beta. 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) ATGTTTTCCCCACAGTCCCAT 0.438000 18 14 0 0 0.000958276 0 0 OLFML1 283298 broad.mit.edu 37 11 7530732 7530732 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:7530732G>A ENST00000329293.3 + 3 916 c.522G>A c.(520-522)aaG>aaA p.K174K OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Silent_p.K174K NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 174 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) ACTCTCCAAAGGTGTACTTAT 0.423000 25 56 0 0 0.00106085 0 0 ZNF208 7757 broad.mit.edu 37 19 22171613 22171613 + Silent SNP T T C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:22171613T>C ENST00000397126.4 - 2 250 c.102A>G c.(100-102)ttA>ttG p.L34L ZNF208_ENST00000601773.1_Silent_p.L34L|ZNF208_ENST00000599916.1_Silent_p.L34L|ZNF208_ENST00000597040.1_Silent_p.L2L 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) TGTAGTTCTCTAACATCACAT 0.413000 40 33 0 0 0.00222228 0 0 SCN11A 11280 broad.mit.edu 37 3 38950496 38950496 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:38950496C>T ENST00000450244.1 - 9 1489 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K SCN11A_ENST00000444237.2_Missense_Mutation_p.E431K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E431K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E431K Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 431 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) ACCTCCTTTTCCTCCTTTAAC 0.532000 40 23 0 0 0.00195071 0 0 PCED1B 91523 broad.mit.edu 37 12 47629855 47629855 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:47629855C>T ENST00000546455.1 + 4 1740 c.1009C>T c.(1009-1011)Ccc>Tcc p.P337S PCED1B_ENST00000432328.1_Missense_Mutation_p.P337S PC-esterase domain containing 1B CCCACAGGGTCCCCCAGATGC 0.582000 30 316 0 0 0.00058488 0 0 UBE4A 9354 broad.mit.edu 37 11 118255590 118255590 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:118255590C>T ENST00000252108.3 + 15 2473 c.2342C>T c.(2341-2343)cCc>cTc p.P781L UBE4A_ENST00000431736.2_Missense_Mutation_p.P788L|UBE4A_ENST00000545354.1_Missense_Mutation_p.P253L NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 781 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GCCATGAATCCCCCACTTTTC 0.368000 63 37 0 0 0.000781405 0 0 ADAM2 2515 broad.mit.edu 37 8 39624518 39624518 + Nonsense_Mutation SNP G G T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:39624518G>T ENST00000265708.4 - 14 1459 c.1356C>A c.(1354-1356)tgC>tgA p.C452* ADAM2_ENST00000347580.4_Nonsense_Mutation_p.C433*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.C452*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.C326* NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 452 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CAGGGAGGTCGCATTCTTCAA 0.398000 35 66 2.75727e-19 1.23341e-18 0.000953801 1 0 DNAH8 1769 broad.mit.edu 37 6 38854694 38854694 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:38854694G>A ENST00000359357.3 + 55 7990 c.7736G>A c.(7735-7737)cGa>cAa p.R2579Q DNAH8_ENST00000441566.1_Missense_Mutation_p.R2543Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.R2796Q 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 GGAGGTGGTCGAAATGATATT 0.373000 27 38 0 0 0.000720815 0 0 DNAH10 196385 broad.mit.edu 37 12 124268667 124268667 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:124268667C>T ENST00000409039.3 + 8 1015 c.990C>T c.(988-990)ttC>ttT p.F330F NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 330 Stem (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) TATTCAAGTTCCACACGGAGG 0.488000 72 25 0 0 0.000781405 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965621 88965621 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:88965621C>T ENST00000333190.4 + 4 3934 c.3325C>T c.(3325-3327)Cat>Tat p.H1109Y NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1109 intracellular zinc ion binding p.H1109Y(1) 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) GCATATAAATCATGTAGAGGG 0.368000 HNSCC(36;0.09) 19 38 0 0 0.00121646 0 0 ABHD13 84945 broad.mit.edu 37 13 108882144 108882144 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:108882144C>T ENST00000375898.3 + 2 879 c.578C>T c.(577-579)tCc>tTc p.S193F NM_032859.2 NP_116248.2 Q7L211 ABHDD_HUMAN abhydrolase domain containing 13 193 integral to membrane hydrolase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TTTGGCCGTTCCTTGGGTGGA 0.403000 30 55 0 0 0.00127121 0 0 ARID4A 5926 broad.mit.edu 37 14 58796780 58796780 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:58796780G>A ENST00000355431.3 + 11 1172 c.799G>A c.(799-801)Gat>Aat p.D267N ARID4A_ENST00000348476.3_Missense_Mutation_p.D267N|ARID4A_ENST00000431317.2_Missense_Mutation_p.D267N|ARID4A_ENST00000395168.3_Missense_Mutation_p.D267N NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 267 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTGGAAAATGGATATAAGTGA 0.388000 45 29 0 0 0.00222228 0 0 SLC20A2 6575 broad.mit.edu 37 8 42294860 42294860 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:42294860G>A ENST00000342228.3 - 8 1539 c.1170C>T c.(1168-1170)acC>acT p.T390T SLC20A2_ENST00000520262.1_Silent_p.T390T|SLC20A2_ENST00000520179.1_Silent_p.T390T NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 390 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) AAATGGCTGCGGTGTAGCAGG 0.607000 44 62 0 0 0.00285205 0 0 LRRN4 164312 broad.mit.edu 37 20 6022124 6022124 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:6022124C>T ENST00000378858.4 - 5 1991 c.1767G>A c.(1765-1767)acG>acA p.T589T NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 589 Fibronectin type-III. integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 CCGTGGTCTCCGTCACCCCCT 0.711000 20 32 0 0 0.00121646 0 0 CHRM2 1129 broad.mit.edu 37 7 136700475 136700475 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:136700475C>T ENST00000445907.2 + 3 1391 c.863C>T c.(862-864)tCa>tTa p.S288L AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S288L|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.S288L|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S288L|CHRM2_ENST00000397608.3_Missense_Mutation_p.S288L|CHRM2_ENST00000402486.3_Missense_Mutation_p.S288L NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 288 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GACTCCACCTCAGTCAGTGCT 0.478000 29 42 0 0 0.00178596 0 0 STRADB 55437 broad.mit.edu 37 2 202343314 202343314 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:202343314C>T ENST00000194530.3 + 10 1425 c.1060C>T c.(1060-1062)Cct>Tct p.P354S STRADB_ENST00000392249.2_Missense_Mutation_p.P354S NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 354 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 GCAACAAGATCCTGAGAAAAG 0.363000 8 33 0 0 0.000274275 0 0 SALL1 6299 broad.mit.edu 37 16 51174411 51174411 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:51174411C>T ENST00000440970.1 - 2 1862 c.1431G>A c.(1429-1431)gaG>gaA p.E477E SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.E574E|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 574 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGGGGCTGGCTCTTCCGTCT 0.612000 16 28 0 0 0.000566183 0 0 SACS 26278 broad.mit.edu 37 13 23909874 23909874 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:23909874G>A ENST00000382298.3 - 10 8729 c.8141C>T c.(8140-8142)tCg>tTg p.S2714L SACS_ENST00000402364.1_Missense_Mutation_p.S1964L|SACS_ENST00000382292.3_Missense_Mutation_p.S2714L NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2714 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGGAACAGACGAAATTTCCGA 0.388000 25 56 0 0 0.000586117 0 0 C7 730 broad.mit.edu 37 5 40981538 40981538 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:40981538G>A ENST00000313164.9 + 18 2754 c.2395G>A c.(2395-2397)Gaa>Aaa p.E799K NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 799 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GGAGTGCGAGGAAGAAGGGTT 0.522000 19 9 0 0 0.00188189 0 0 C9orf78 51759 broad.mit.edu 37 9 132595788 132595788 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:132595788G>A ENST00000372447.3 - 4 257 c.204C>T c.(202-204)ccC>ccT p.P68P C9orf78_ENST00000461762.1_5'UTR NM_016520.2 NP_057604.1 Q9NZ63 CI078_HUMAN chromosome 9 open reading frame 78 68 kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2) 13 Ovarian(14;0.00556) TCATCTGAAAGGGATCATCCT 0.398000 28 14 0 0 0.00209593 0 0 MIR517A 574479 broad.mit.edu 37 19 54215545 54215545 + RNA SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:54215545G>A ENST00000385001.1 + 0 24 NR_030201.1 CCCTCTAGATGGAAGCACTGT 0.478000 20 49 0 0 0.00047179 0 0 TRIM22 10346 broad.mit.edu 37 11 5719671 5719671 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:5719671C>T ENST00000379965.3 + 4 923 c.646C>T c.(646-648)Ctg>Ttg p.L216L TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 216 immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GCTGGATAACCTGGCAGCAGC 0.527000 18 29 0 0 0.000566183 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-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) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 47 81 0 0 0.000781405 0 0 MLIP 90523 broad.mit.edu 37 6 53989277 53989277 + Missense_Mutation SNP T T A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:53989277T>A ENST00000514921.1 + 3 339 c.226T>A c.(226-228)Tcc>Acc p.S76T MLIP_ENST00000370877.2_Missense_Mutation_p.S24T|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Missense_Mutation_p.S24T|MLIP_ENST00000370876.2_Missense_Mutation_p.S14T|MLIP_ENST00000358276.5_Missense_Mutation_p.S70T|MLIP_ENST00000502396.1_Missense_Mutation_p.S87T|MLIP_ENST00000274897.5_Missense_Mutation_p.S76T Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 76 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 ACAGTCTAAATCCAATGACTA 0.368000 23 30 0 0 0.000586117 0 0 CASP5 838 broad.mit.edu 37 11 104877831 104877831 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:104877831G>A ENST00000393141.2 - 3 482 c.451C>T c.(451-453)Caa>Taa p.Q151* CASP5_ENST00000526056.1_Nonsense_Mutation_p.Q151*|CASP5_ENST00000444749.2_Nonsense_Mutation_p.Q80*|CASP5_ENST00000393139.2_Nonsense_Mutation_p.Q105*|CASP5_ENST00000260315.3_Nonsense_Mutation_p.Q138*|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000531367.1_Intron NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 138 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) GTGATCTTTTGGTCCATATTG 0.388000 51 36 0 0 0.000781405 0 0 PVRIG 79037 broad.mit.edu 37 7 99818436 99818436 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:99818436G>A ENST00000317271.2 + 5 1013 c.650G>A c.(649-651)cGa>cAa p.R217Q GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron NM_024070.3 NP_076975.2 Q6DKI7 PVRIG_HUMAN poliovirus receptor related immunoglobulin domain containing 217 integral to membrane breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2) 11 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCGAGAGCACGAGCATGGGTG 0.677000 14 14 0 0 0.00185496 0 0 PYHIN1 149628 broad.mit.edu 37 1 158906860 158906860 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:158906860G>A ENST00000368140.1 + 2 405 c.160G>A c.(160-162)Gaa>Aaa p.E54K PYHIN1_ENST00000392254.2_Missense_Mutation_p.E54K|PYHIN1_ENST00000392252.3_Missense_Mutation_p.E54K|PYHIN1_ENST00000368138.3_Missense_Mutation_p.E54K|PYHIN1_ENST00000368135.4_Missense_Mutation_p.E54K NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 54 DAPIN. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) CTTGATGGAGGAAAAGTTCCC 0.348000 30 46 0 0 0.00127121 0 0 RTEL1 51750 broad.mit.edu 37 20 62328225 62328225 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:62328225C>T ENST00000318100.4 + 36 4839 c.4012C>T c.(4012-4014)Cta>Tta p.L1338L TNFRSF6B_ENST00000369996.1_Silent_p.T35T|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L1338L Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 0 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) AAACACCCACCTACCCCTGGC 0.726000 6 5 0 0 0.00198382 0 0 DNAH5 1767 broad.mit.edu 37 5 13717504 13717504 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:13717504G>A ENST00000265104.4 - 73 12729 c.12625C>T c.(12625-12627)Ccc>Tcc p.P4209S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4209 AAA 6 (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) AATTCGTAGGGGATATTCCAC 0.547000 Kartagener syndrome 18 18 0 0 0.00074312 0 0 ADAM18 8749 broad.mit.edu 37 8 39496021 39496021 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:39496021C>T ENST00000265707.5 + 10 910 c.865C>T c.(865-867)Cct>Tct p.P289S ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.P265S NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 289 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding p.P289S(1)|p.P289F(1) 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) AGCAACATTTCCTGGCACTGT 0.274000 26 41 0 0 0.0024448 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20370231 20370231 + RNA SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:20370231C>T ENST00000593655.1 - 0 199 TCGATAAACTCCAAAGCTTGT 0.403000 6 12 0 0 0.00198382 0 0 XKR6 286046 broad.mit.edu 37 8 10756104 10756104 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:10756104G>A ENST00000416569.2 - 3 1310 c.1284C>T c.(1282-1284)ttC>ttT p.F428F XKR6_ENST00000304437.2_Silent_p.F149F NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 428 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) TAAACCAGCAGAAAATGTACA 0.483000 15 18 0 0 0.00244969 0 0 DNAH5 1767 broad.mit.edu 37 5 13753569 13753569 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:13753569C>T ENST00000265104.4 - 63 10749 c.10645G>A c.(10645-10647)Gaa>Aaa p.E3549K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3549 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) GCTTTCATTTCCTTCCGCCAG 0.403000 Kartagener syndrome 57 102 0 0 0.000781405 0 0 DEFB119 245932 broad.mit.edu 37 20 29965177 29965177 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:29965177C>T ENST00000376321.3 - 2 246 c.127G>A c.(127-129)Gaa>Aaa p.E43K DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR NM_153289.2 NP_695021.2 Q8N690 DB119_HUMAN defensin, beta 119 43 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TAGGGCTGTTCGTTCTTTTTG 0.433000 52 87 0 0 0.000781405 0 0 FLG2 388698 broad.mit.edu 37 1 152325386 152325386 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152325386C>T ENST00000388718.5 - 3 4948 c.4876G>A c.(4876-4878)Gat>Aat p.D1626N FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1626 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) CCAGTGGTATCTCCTATCTGT 0.507000 101 133 0 0 0.000781405 0 0 HECW2 57520 broad.mit.edu 37 2 197184087 197184087 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:197184087C>T ENST00000260983.2 - 9 1709 c.1527G>A c.(1525-1527)gaG>gaA p.E509E HECW2_ENST00000409111.1_Silent_p.E153E NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 509 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 CAGGGTTGTCCTCCAGCTTTG 0.517000 12 28 0 0 0.000978159 0 0 RALGPS2 55103 broad.mit.edu 37 1 178846662 178846662 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:178846662G>A ENST00000367635.3 + 9 975 c.637G>A c.(637-639)Gat>Aat p.D213N RALGPS2_ENST00000367634.2_Missense_Mutation_p.D213N|RALGPS2_ENST00000324778.4_Missense_Mutation_p.D178N NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 213 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding p.D213Y(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 AACATACATCGATTCAGCATA 0.338000 14 51 0 0 0.000566183 0 0 SLC20A2 6575 broad.mit.edu 37 8 42297144 42297144 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:42297144G>A ENST00000342228.3 - 7 1127 c.758C>T c.(757-759)tCa>tTa p.S253L SLC20A2_ENST00000520262.1_Missense_Mutation_p.S253L|SLC20A2_ENST00000520179.1_Missense_Mutation_p.S253L NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 253 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) AGATACTCGTGATAAAGCACC 0.393000 26 44 0 0 0.001512 0 0 FCGBP 8857 broad.mit.edu 37 19 40433743 40433743 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:40433743C>T ENST00000221347.6 - 2 533 c.526G>A c.(526-528)Ggg>Agg p.G176R NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 176 IgGFc-binding. extracellular region protein binding p.G176W(1) 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) GTCACTGACCCCTTCAGCGTG 0.567000 19 40 0 0 0.00229938 0 0 PLCB4 5332 broad.mit.edu 37 20 9434089 9434089 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:9434089G>A ENST00000378501.2 + 29 2955 c.2940G>A c.(2938-2940)gaG>gaA p.E980E PLCB4_ENST00000378493.1_Silent_p.E980E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.E992E|PLCB4_ENST00000334005.3_Silent_p.E980E|PLCB4_ENST00000278655.4_Silent_p.E980E|PLCB4_ENST00000414679.2_Silent_p.E992E NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 980 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 AAATCCTAGAGAAGGCAATGA 0.388000 19 23 0 0 0.00121646 0 0 PRDM9 56979 broad.mit.edu 37 5 23526576 23526576 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:23526576C>T ENST00000296682.3 + 11 1561 c.1379C>T c.(1378-1380)tCc>tTc p.S460F NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 460 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AAAGAAAGGTCCAAACTCTTG 0.468000 HNSCC(3;0.000094) 4 28 0 0 0.00024832 0 0 TRPM7 54822 broad.mit.edu 37 15 50925153 50925153 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:50925153G>A ENST00000313478.7 - 9 1325 c.1044C>T c.(1042-1044)tcC>tcT p.S348S TRPM7_ENST00000560955.1_Silent_p.S348S NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 348 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) TTTTGATAGTGGAAATAATAT 0.343000 21 43 0 0 0.00152264 0 0 USP50 373509 broad.mit.edu 37 15 50830987 50830987 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:50830987G>A ENST00000532404.1 - 5 895 c.722C>T c.(721-723)tCc>tTc p.S241F USP50_ENST00000530218.1_5'UTR NM_203494.4 NP_987090.2 E9PP86 E9PP86_HUMAN ubiquitin specific peptidase 50 241 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5) 13 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) TTCACAAAAGGAGCAGTGAAT 0.373000 24 23 0 0 0.000720815 0 0 C8A 731 broad.mit.edu 37 1 57349331 57349331 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:57349331G>A ENST00000361249.3 + 6 928 c.832G>A c.(832-834)Gaa>Aaa p.E278K NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 278 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 ATTCTTGAACGAATTAAACAA 0.403000 17 31 0 0 0.000566183 0 0 MROH2B 133558 broad.mit.edu 37 5 41049436 41049436 + Nonsense_Mutation SNP T T A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:41049436T>A ENST00000399564.4 - 14 1897 c.1447A>T c.(1447-1449)Aag>Tag p.K483* MROH2B_ENST00000506092.2_Nonsense_Mutation_p.K38* NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TGCTGCTTCTTCTCCTCTGCC 0.458000 10 42 0 0 0.000673444 0 0 TTN 7273 broad.mit.edu 37 2 179474029 179474029 + Silent SNP G G A rs144507270 by1000genomes TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179474029G>A ENST00000589042.1 - 273 52232 c.52008C>T c.(52006-52008)gtC>gtT p.V17336V TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.V8271V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V15695V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.V8463V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V14768V|TTN_ENST00000359218.5_Silent_p.V8396V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15695 Fibronectin type-III 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGAATCTCGGACGCGTAGCT 0.453000 11 25 0 0 0.000978159 0 0 PEG3 5178 broad.mit.edu 37 19 57328178 57328178 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:57328178G>A ENST00000326441.9 - 10 1995 c.1632C>T c.(1630-1632)ttC>ttT p.F544F ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.F420F|PEG3_ENST00000593695.1_Silent_p.F418F|PEG3_ENST00000423103.2_Silent_p.F544F|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 544 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGCTAGGCATGAAGGCTTCCT 0.453000 48 81 0 0 0.000781405 0 0 HYDIN 54768 broad.mit.edu 37 16 70954536 70954536 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:70954536C>T ENST00000393567.2 - 46 7893 c.7743G>A c.(7741-7743)tgG>tgA p.W2581* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2581 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) GGGCCTGCTTCCAGCTCAAGC 0.587000 8 9 0 0 0.000442599 0 0 KIF6 221458 broad.mit.edu 37 6 39563951 39563951 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:39563951C>T ENST00000287152.7 - 7 819 c.725G>A c.(724-726)cGa>cAa p.R242Q KIF6_ENST00000538893.1_Missense_Mutation_p.R242Q|KIF6_ENST00000373215.3_Missense_Mutation_p.R242Q|KIF6_ENST00000373216.3_Missense_Mutation_p.R242Q|KIF6_ENST00000373213.4_Missense_Mutation_p.R81Q NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 242 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TTTGGCATGTCGTACAGTTGC 0.463000 16 33 0 0 0.000422831 0 0 CA6 765 broad.mit.edu 37 1 9017341 9017341 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:9017341C>T ENST00000377443.2 + 3 409 c.405C>T c.(403-405)atC>atT p.I135I CA6_ENST00000377442.2_Silent_p.I75I|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Silent_p.I135I NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI 135 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|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;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GACATGTGATCGAGGTACCTG 0.507000 22 24 0 0 0.000720815 0 0 TMEM62 80021 broad.mit.edu 37 15 43446960 43446960 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:43446960C>T ENST00000260403.2 + 9 1392 c.1113C>T c.(1111-1113)ccC>ccT p.P371P NM_024956.3 NP_079232.3 Q0P6H9 TMM62_HUMAN transmembrane protein 62 371 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) TGTCTGGTCCCATTTTCGTAC 0.378000 12 22 0 0 0.000978159 0 0 PSG2 5670 broad.mit.edu 37 19 43579720 43579720 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:43579720C>T ENST00000406487.1 - 3 593 c.495G>A c.(493-495)gtG>gtA p.V165V NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 165 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) AGGTTAAGATCACAGTTTCCA 0.522000 65 110 0 0 0.000781405 0 0 YTHDC2 64848 broad.mit.edu 37 5 112868587 112868587 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:112868587C>T ENST00000161863.4 + 5 900 c.687C>T c.(685-687)ttC>ttT p.F229F YTHDC2_ENST00000515883.1_Silent_p.F229F NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 229 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TTCCTCAGTTCCTTTTAGATG 0.363000 45 15 0 0 0.000781405 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462696 50462696 + Silent SNP G G T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:50462696G>T ENST00000447370.2 - 5 1068 c.978C>A c.(976-978)gcC>gcA p.A326A SIGLEC11_ENST00000426971.2_Silent_p.A326A NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 326 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CTGAATCCCCGGCCCTTACCC 0.682000 15 26 4.7546e-09 2.115e-08 0.000422831 1 0 MCF2L2 23101 broad.mit.edu 37 3 183017899 183017899 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:183017899G>A ENST00000328913.3 - 11 1496 c.1199C>T c.(1198-1200)cCc>cTc p.P400L MCF2L2_ENST00000473233.1_Missense_Mutation_p.P400L|MCF2L2_ENST00000447025.2_Missense_Mutation_p.P400L|MCF2L2_ENST00000414362.2_Missense_Mutation_p.P400L NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 400 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CACACACCGGGGCCTGATGGC 0.512000 12 38 0 0 0.00136819 0 0 IARS2 55699 broad.mit.edu 37 1 220311351 220311351 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:220311351C>T ENST00000366922.1 + 17 2256 c.1925C>T c.(1924-1926)tCc>tTc p.S642F IARS2_ENST00000302637.5_Missense_Mutation_p.S714F Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 714 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) ATTGGCCCATCCGTGCTCAAT 0.408000 28 69 0 0 0.000878237 0 0 NRAP 4892 broad.mit.edu 37 10 115400007 115400007 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:115400007C>T ENST00000369358.4 - 14 1651 c.1407G>A c.(1405-1407)atG>atA p.M469I NRAP_ENST00000359988.3_Missense_Mutation_p.M469I|NRAP_ENST00000369360.3_Missense_Mutation_p.M434I|NRAP_ENST00000360478.3_Missense_Mutation_p.M434I Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 469 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) GCACCAGTTTCATAGCTGTTT 0.418000 42 23 0 0 0.000680045 0 0 FLG 2312 broad.mit.edu 37 1 152281693 152281693 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152281693G>A ENST00000368799.1 - 3 5704 c.5669C>T c.(5668-5670)tCt>tTt p.S1890F FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1890 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) GTCGGCCCGAGAGGAAGCTTC 0.577000 Ichthyosis 95 206 0 0 0.000781405 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45895246 45895246 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:45895246G>A ENST00000418234.2 - 8 1785 c.1707C>T c.(1705-1707)atC>atT p.I569I PPP1R13L_ENST00000360957.5_Silent_p.I569I NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 569 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) ATCCCTCAGTGATGGGGGACA 0.697000 14 18 0 0 0.000422831 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128838851 128838851 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:128838851G>A ENST00000310343.9 - 22 6214 c.6215C>T c.(6214-6216)cCc>cTc p.P2072L ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P1723L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P1723L NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 2072 Interaction with FYN. 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 CAACTCTGCGGGCAGGAAGGC 0.582000 7 6 0 0 0.000274275 0 0 PTPRC 5788 broad.mit.edu 37 1 198725200 198725200 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:198725200C>T ENST00000367376.2 + 33 3976 c.3805C>T c.(3805-3807)Ctc>Ttc p.L1269F PTPRC_ENST00000352140.3_Missense_Mutation_p.L1221F|PTPRC_ENST00000594404.1_Missense_Mutation_p.L1108F|PTPRC_ENST00000442510.2_Missense_Mutation_p.L1271F|PTPRC_ENST00000348564.6_Missense_Mutation_p.L1110F NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1269 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 CCCAGAAAAGCTCCCTGAAGC 0.433000 23 58 0 0 0.00229938 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47333640 47333640 + RNA SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:47333640C>T ENST00000505841.1 - 0 1048 NR_002788.2 AGACCCATCCCCTAGGAGTTC 0.423000 4 9 0 0 0.000602214 0 0 BRD8 10902 broad.mit.edu 37 5 137486557 137486557 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:137486557C>T ENST00000254900.5 - 22 3368 c.2997G>A c.(2995-2997)gaG>gaA p.E999E NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 999 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TAGCTGAAAGCTCTTCAGTCT 0.488000 40 21 0 0 0.00170553 0 0 TERF2IP 54386 broad.mit.edu 37 16 75688173 75688173 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:75688173C>T ENST00000300086.4 + 2 770 c.673C>T c.(673-675)Cca>Tca p.P225S NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 225 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TTTAACAGAACCACAGAATAA 0.418000 31 62 0 0 0.00283554 0 0 MUC16 94025 broad.mit.edu 37 19 9061109 9061109 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:9061109C>T ENST00000397910.4 - 3 26540 c.26337G>A c.(26335-26337)acG>acA p.T8779T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8781 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 CTGATCCTGTCGTGGTGAGGG 0.507000 33 18 0 0 0.00111076 0 0 ADAM29 11086 broad.mit.edu 37 4 175897197 175897197 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:175897197G>A ENST00000359240.3 + 5 1191 c.521G>A c.(520-522)cGa>cAa p.R174Q ADAM29_ENST00000514159.1_Missense_Mutation_p.R174Q|ADAM29_ENST00000445694.1_Missense_Mutation_p.R174Q|ADAM29_ENST00000404450.4_Missense_Mutation_p.R174Q NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 174 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ATAACATGCCGAATGGAATTT 0.363000 25 55 0 0 0.000720815 0 0 C11orf16 56673 broad.mit.edu 37 11 8942945 8942945 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:8942945G>A ENST00000326053.5 - 6 1428 c.1322C>T c.(1321-1323)cCg>cTg p.P441L C11orf16_ENST00000525780.1_Intron NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 441 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) CGGGGTCCGCGGTGGCTTCAT 0.517000 28 43 0 0 0.001512 0 0 TTN 7273 broad.mit.edu 37 2 179529579 179529579 + Splice_Site SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179529579C>T ENST00000589042.1 - 166 36342 c.36118_splice c.e166+1 p.V12040_splice TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10188 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) TGACTTGTACCTTTAACTGAT 0.378000 11 8 0 0 0.00185496 0 0 PTGER3 5733 broad.mit.edu 37 1 71418656 71418656 + Missense_Mutation SNP T T G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:71418656T>G ENST00000356595.4 - 4 1401 c.1191A>C c.(1189-1191)gaA>gaC p.E397D PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron NM_198718.1 NP_942011.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 0 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) CCTCCATTTCTTCTCTGTTCA 0.413000 7 132 0 0 0.000157383 0 0 CASC1 55259 broad.mit.edu 37 12 25311484 25311484 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:25311484C>T ENST00000354189.5 - 4 329 c.294G>A c.(292-294)ttG>ttA p.L98L CASC1_ENST00000395987.3_Silent_p.L40L|CASC1_ENST00000395990.2_5'UTR|CASC1_ENST00000320267.9_Silent_p.L34L|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000545133.1_Intron|CASC1_ENST00000557684.1_5'UTR NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 34 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TCTCATATTTCAAACGGGCTT 0.294000 32 48 0 0 0.00209593 0 0 SOX10 6663 broad.mit.edu 37 22 38379572 38379572 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:38379572C>T ENST00000396884.2 - 2 502 c.220G>A c.(220-222)Gag>Aag p.E74K SOX10_ENST00000470555.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.E74K|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 74 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) CTGACGGCCTCGCGGATGCAC 0.697000 4 6 0 0 0.000602214 0 0 HERC2 8924 broad.mit.edu 37 15 28408299 28408299 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:28408299C>T ENST00000261609.7 - 69 10795 c.10687G>A c.(10687-10689)Gac>Aac p.D3563N NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3563 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) CTGCCCCTGTCCCCGGCCCGG 0.642000 17 41 0 0 0.000566183 0 0 SGCZ 137868 broad.mit.edu 37 8 14412253 14412253 + Missense_Mutation SNP C C T rs77000161 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:14412253C>T ENST00000382080.1 - 2 937 c.222G>A c.(220-222)atG>atA p.M74I SGCZ_ENST00000421524.2_Missense_Mutation_p.M61I NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 61 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CAGTGAAATTCATAACTTTCA 0.328000 16 48 0 0 0.000308642 0 0 FLG2 388698 broad.mit.edu 37 1 152326202 152326202 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152326202C>T ENST00000388718.5 - 3 4132 c.4060G>A c.(4060-4062)Gaa>Aaa p.E1354K FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1354 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) GAGTGCACTTCACTGTCAGTG 0.483000 35 104 0 0 0.00283554 0 0 PTPRN2 5799 broad.mit.edu 37 7 157985158 157985158 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:157985158C>T ENST00000389413.3 - 5 513 c.410G>A c.(409-411)aGg>aAg p.R137K PTPRN2_ENST00000404321.2_Missense_Mutation_p.R160K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R99K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R120K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R137K NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 137 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) ACTGTACCTCCTCTCGCTGCC 0.632000 25 40 0 0 0.0024448 0 0 NFASC 23114 broad.mit.edu 37 1 204948166 204948166 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:204948166C>T ENST00000367172.4 + 18 2275 c.1947C>T c.(1945-1947)atC>atT p.I649I NFASC_ENST00000360049.4_Silent_p.I645I|NFASC_ENST00000404907.1_Silent_p.I645I|NFASC_ENST00000338515.6_Silent_p.I649I|NFASC_ENST00000513543.1_Silent_p.I645I|NFASC_ENST00000338586.6_Silent_p.I649I|NFASC_ENST00000367169.4_Silent_p.I649I|NFASC_ENST00000539706.1_Silent_p.I645I|NFASC_ENST00000339876.6_Silent_p.I649I|NFASC_ENST00000404076.1_Silent_p.I628I|NFASC_ENST00000367171.4_Silent_p.I634I|NFASC_ENST00000367170.4_Silent_p.I649I|NFASC_ENST00000401399.1_Silent_p.I649I O94856 NFASC_HUMAN neurofascin 649 Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGACCTGGATCCCCGGGGATG 0.647000 3 3 0 0 0.00024832 0 0 OR1E1 8387 broad.mit.edu 37 17 3301220 3301220 + Missense_Mutation SNP A A C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:3301220A>C ENST00000322608.2 - 1 484 c.485T>G c.(484-486)cTc>cGc p.L162R NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 CCTGGCCATGAGTAAAGTGTG 0.532000 5 15 0 0 0.000602214 0 0 DPPA3 359787 broad.mit.edu 37 12 7868018 7868018 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:7868018C>T ENST00000345088.2 + 2 439 c.322C>T c.(322-324)Cgt>Tgt p.R108C NM_199286.2 NP_954980.1 Q6W0C5 DPPA3_HUMAN developmental pluripotency associated 3 108 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) CGGCGGAGTTCGTACGGTATG 0.483000 12 39 0 0 0.00136819 0 0 CDH4 1002 broad.mit.edu 37 20 60498655 60498655 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:60498655C>T ENST00000360469.5 + 10 1609 c.1521C>T c.(1519-1521)ttC>ttT p.F507F CDH4_ENST00000543233.1_Silent_p.F433F NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 507 Cadherin 3. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CTCCCTACTTCCCCTCAAACC 0.627000 6 7 0 0 0.00116845 0 0 OR6A2 8590 broad.mit.edu 37 11 6816325 6816325 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:6816325G>A ENST00000332601.3 - 1 803 c.615C>T c.(613-615)ttC>ttT p.F205F NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGGCCAGGATGAAATCTGTAA 0.493000 42 92 0 0 0.000680045 0 0 DHX34 9704 broad.mit.edu 37 19 47856776 47856776 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:47856776C>T ENST00000328771.4 + 2 838 c.489C>T c.(487-489)ccC>ccT p.P163P NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 163 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) CAGCCCTCCCCATCGCCCAGT 0.647000 21 36 0 0 0.00278032 0 0 CDH10 1008 broad.mit.edu 37 5 24505343 24505343 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:24505343C>T ENST00000264463.4 - 8 1778 c.1271G>A c.(1270-1272)cGc>cAc p.R424H NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 424 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GTCAGTATGGCGATCCAAGGA 0.368000 HNSCC(23;0.051) 25 35 0 0 0.000720815 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940176 68940176 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:68940176C>T ENST00000433211.1 - 7 1120 c.946G>A c.(946-948)Gat>Aat p.D316N CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.D316N|CTNNA3_ENST00000545309.1_Missense_Mutation_p.D316N NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 316 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 CATGAAGAATCCGCCAGCAGA 0.483000 27 16 0 0 0.000878237 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31117614 31117614 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:31117614G>A ENST00000304166.4 + 4 455 c.166G>A c.(166-168)Ggg>Agg p.G56R ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G56R|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G56R|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G56R NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 56 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 AGGCTGTCCTGGGATGTGGGA 0.572000 16 25 0 0 0.000422831 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67854848 67854848 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:67854848G>A ENST00000388833.3 + 3 469 c.92G>A c.(91-93)cGa>cAa p.R31Q TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R85Q|TSNAXIP1_ENST00000562321.1_Intron NM_018430.2 NP_060900.2 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 1 31 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm p.R31L(2) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) TACCGGAAGCGAGTAGGGTAA 0.597000 26 54 0 0 0.00127121 0 0 DNAH11 8701 broad.mit.edu 37 7 21827122 21827122 + Missense_Mutation SNP A A T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:21827122A>T ENST00000328843.6 + 61 9897 c.9866A>T c.(9865-9867)aAt>aTt p.N3289I DNAH11_ENST00000409508.3_Missense_Mutation_p.N3282I Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3289 Stalk (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 CCAGAGTTTAATCCAAACCTG 0.373000 Kartagener syndrome 29 39 0 0 0.000878237 0 0 GPX6 257202 broad.mit.edu 37 6 28478531 28478531 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:28478531G>A ENST00000361902.1 - 2 287 c.238C>T c.(238-240)Cct>Tct p.P80S GPX6_ENST00000474923.1_Missense_Mutation_p.P80S|GPX6_ENST00000483058.1_5'UTR NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 80 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) TTCTTACCAGGATACTGAGCT 0.473000 20 34 0 0 0.000958276 0 0 SYT10 341359 broad.mit.edu 37 12 33559882 33559882 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:33559882C>T ENST00000228567.3 - 3 1215 c.919G>A c.(919-921)Gat>Aat p.D307N SYT10_ENST00000535526.1_Missense_Mutation_p.D126N NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 307 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) CTTAGTTGATCATATGCTACA 0.343000 23 37 0 0 0.00229938 0 0 COL11A2 1302 broad.mit.edu 37 6 33156784 33156784 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:33156784G>A ENST00000341947.2 - 3 641 c.414C>T c.(412-414)gtC>gtT p.V138V COL11A2_ENST00000357486.1_Silent_p.V138V|COL11A2_ENST00000395194.1_Silent_p.V138V|COL11A2_ENST00000361917.1_Silent_p.V138V|COL11A2_ENST00000374714.1_Silent_p.V138V|COL11A2_ENST00000374713.1_Silent_p.V138V|COL11A2_ENST00000395197.1_Silent_p.V138V|COL11A2_ENST00000374708.4_Silent_p.V138V|COL11A2_ENST00000374712.1_Silent_p.V138V NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 138 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GGCCTCGGAAGACTGGCTGAG 0.612000 33 102 0 0 0.00128727 0 0 OR2L3 391192 broad.mit.edu 37 1 248224841 248224841 + Silent SNP C C G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:248224841C>G ENST00000359959.3 + 1 858 c.858C>G c.(856-858)ccC>ccG p.P286P OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P286P(1) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TGCTCAACCCCATCATCTATA 0.488000 6 66 0 0 0.00116845 0 0 NKX2-2 4821 broad.mit.edu 37 20 21494276 21494276 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:21494276G>A ENST00000377142.4 - 1 388 c.32C>T c.(31-33)tCg>tTg p.S11L NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 11 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity p.S11L(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GTCCTTGACCGAAAACCCCGT 0.567000 27 43 0 0 0.00283554 0 0 PROKR1 10887 broad.mit.edu 37 2 68873196 68873196 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:68873196C>T ENST00000303786.3 + 2 663 c.243C>T c.(241-243)ttC>ttT p.F81F PROKR1_ENST00000394342.2_Silent_p.F81F Q8TCW9 PKR1_HUMAN prokineticin receptor 1 81 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 TTGGAAACTTCATCTTTATCG 0.532000 37 85 0 0 0.00148497 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603558 140603558 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:140603558G>A ENST00000239449.4 + 1 481 c.481G>A c.(481-483)Gat>Aat p.D161N PCDHB14_ENST00000515856.2_Missense_Mutation_p.D8N NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 161 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAAGATTTGGATGTCGGAAG 0.398000 31 10 0 0 0.000692331 0 0 IGSF1 3547 broad.mit.edu 37 X 130408600 130408600 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:130408600C>T ENST00000370904.1 - 24 4607 c.3697G>A c.(3697-3699)Gat>Aat p.D1233N IGSF1_ENST00000361420.3_Missense_Mutation_p.D1242N|IGSF1_ENST00000370903.3_Missense_Mutation_p.D1247N|IGSF1_ENST00000370910.1_Missense_Mutation_p.D1233N Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1242 Ig-like C2-type 12. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TCCAGGGGATCACTAGGCTCT 0.542000 51 20 0 0 0.000781405 0 0 KNTC1 9735 broad.mit.edu 37 12 123089491 123089491 + Missense_Mutation SNP C C G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:123089491C>G ENST00000333479.7 + 50 5420 c.5243C>G c.(5242-5244)aCa>aGa p.T1748R KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.T173R NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1748 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CGATCGGGCACAGAAGCTGTG 0.433000 8 3 0 0 0.000157383 0 0 WDR34 89891 broad.mit.edu 37 9 131398016 131398016 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:131398016C>T ENST00000372715.2 - 5 794 c.734G>A c.(733-735)tGg>tAg p.W245* WDR34_ENST00000483181.1_5'UTR NM_052844.3 NP_443076.2 Q96EX3 WDR34_HUMAN WD repeat domain 34 245 cytoplasm central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1) 9 GCTCAGGTCCCACACCAACAC 0.672000 5 0 0 0 0.000602214 0 0 ZAP70 7535 broad.mit.edu 37 2 98354284 98354284 + Missense_Mutation SNP T T C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:98354284T>C ENST00000264972.5 + 12 1762 c.1547T>C c.(1546-1548)tTc>tCc p.F516S ZAP70_ENST00000451498.2_Missense_Mutation_p.F209S|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.F390S NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 516 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 TTCCGCAAGTTCTCCAGCCGC 0.642000 33 60 0 0 0.00111076 0 0 KMT2B 9757 broad.mit.edu 37 19 36223280 36223280 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:36223280C>T ENST00000420124.1 + 28 5830 c.5830C>T c.(5830-5832)Cct>Tct p.P1944S KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.P1944S GGTGCCCCCTCCTACCTCAGT 0.672000 8 9 0 0 0.000274275 0 0 TIAM1 7074 broad.mit.edu 37 21 32493137 32493137 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr21:32493137G>A ENST00000286827.3 - 29 4796 c.4325C>T c.(4324-4326)tCt>tTt p.S1442F TIAM1_ENST00000541036.1_Missense_Mutation_p.S1382F NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1442 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 CCTCCCAAGAGACTTGCTTGG 0.522000 6 14 0 0 0.00116845 0 0 ARHGAP8 23779 broad.mit.edu 37 22 45244853 45244853 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:45244853C>T ENST00000517296.3 + 15 1420 c.1420C>T c.(1420-1422)Cct>Tct p.P474S PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.P395S|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.P386S|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.P295S|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.P474S|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.P264S|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.P264S Rho GTPase activating protein 8 breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7) 29 all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649) UCEC - Uterine corpus endometrioid carcinoma (28;0.0204) CATTCACATCCCTGCCGTGAT 0.617000 40 75 0 0 0.00285205 0 0 LUZP1 7798 broad.mit.edu 37 1 23418816 23418816 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:23418816G>A ENST00000302291.4 - 4 2740 c.1939C>T c.(1939-1941)Cga>Tga p.R647* LUZP1_ENST00000374623.3_Nonsense_Mutation_p.R647*|LUZP1_ENST00000418342.1_Nonsense_Mutation_p.R647*|LUZP1_ENST00000314174.5_Nonsense_Mutation_p.R647* Q86V48 LUZP1_HUMAN leucine zipper protein 1 647 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TTGATGACTCGACACCTCAAG 0.463000 77 94 0 0 0.000781405 0 0 SMOC1 64093 broad.mit.edu 37 14 70461195 70461195 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:70461195C>T ENST00000381280.4 + 7 915 c.662C>T c.(661-663)tCa>tTa p.S221L SMOC1_ENST00000361956.3_Missense_Mutation_p.S221L NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 221 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ATAAGAAATTCAGGTAAATAA 0.413000 7 67 0 0 0.000157383 0 0 ZBED1 9189 broad.mit.edu 37 X 2406967 2406967 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:2406967G>A ENST00000381223.4 - 2 1997 c.1794C>T c.(1792-1794)ttC>ttT p.F598F DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.F598F|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381218.3_Silent_p.F598F NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 598 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 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) GCAGCAGGGGGAAGAGGGCCA 0.647000 38 35 0 0 0.00111076 0 0 ZFP64 55734 broad.mit.edu 37 20 50769429 50769429 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:50769429G>A ENST00000216923.4 - 6 1651 c.1302C>T c.(1300-1302)ttC>ttT p.F434F ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Silent_p.F380F|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.F432F|ZFP64_ENST00000361387.2_Intron NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CCTCCCGCATGAAGGAGGCAT 0.572000 15 33 0 0 0.00244969 0 0 HFM1 164045 broad.mit.edu 37 1 91843722 91843722 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:91843722C>T ENST00000370425.3 - 11 1353 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K HFM1_ENST00000370424.3_Missense_Mutation_p.E98K|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 419 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CCACGATTTTCATCTTTTACA 0.289000 18 34 0 0 0.00188189 0 0 RDX 5962 broad.mit.edu 37 11 110134696 110134696 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:110134696G>A ENST00000343115.4 - 5 775 c.456C>T c.(454-456)ctC>ctT p.L152L RDX_ENST00000528498.1_Silent_p.L152L|RDX_ENST00000544551.1_Intron|RDX_ENST00000405097.1_Silent_p.L152L|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Silent_p.L120L NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 152 FERM. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) GCTGGGGTAGGAGTCTATCAT 0.363000 16 13 0 0 0.00074312 0 0 TTN 7273 broad.mit.edu 37 2 179411964 179411964 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179411964C>T ENST00000589042.1 - 340 94512 c.94288G>A c.(94288-94290)Gaa>Aaa p.E31430K TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22365K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29789K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22557K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28862K|TTN_ENST00000359218.5_Missense_Mutation_p.E22490K|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29789 Fibronectin type-III 129. 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) TAGGGTTCTTCCCAACGAATA 0.423000 63 85 0 0 0.000781405 0 0 PSG1 5669 broad.mit.edu 37 19 43382238 43382238 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:43382238C>T ENST00000244296.2 - 2 394 c.257G>A c.(256-258)gGt>gAt p.G86D PSG1_ENST00000312439.6_Missense_Mutation_p.G86D|PSG1_ENST00000403380.3_Missense_Mutation_p.G86D|PSG1_ENST00000436291.2_Missense_Mutation_p.G86D|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Missense_Mutation_p.G86D|PSG1_ENST00000595124.1_Missense_Mutation_p.G86D NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) AATTATTTCACCGTCTACTAC 0.458000 98 193 0 0 0.000781405 0 0 CSF2RB 1439 broad.mit.edu 37 22 37329990 37329990 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:37329990G>A ENST00000262825.5 + 10 1504 c.1287G>A c.(1285-1287)ggG>ggA p.G429G CSF2RB_ENST00000406230.1_Silent_p.G429G|CSF2RB_ENST00000536485.1_Silent_p.G370G|CSF2RB_ENST00000403662.3_Silent_p.G423G NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 423 Fibronectin type-III 2. 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) GCTACAACGGGATCTGGAGCG 0.657000 18 28 0 0 0.00121646 0 0 FMN2 56776 broad.mit.edu 37 1 240371478 240371478 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:240371478C>T ENST00000319653.9 + 5 3596 c.3366C>T c.(3364-3366)ccC>ccT p.P1122P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1122 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCTCCTCCCCCTCTACCCG 0.721000 8 6 0 0 0.00136819 0 0 RSRC1 51319 broad.mit.edu 37 3 158261266 158261266 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:158261266C>T ENST00000464171.1 + 8 853 c.728C>T c.(727-729)gCc>gTc p.A243V RSRC1_ENST00000475278.2_Intron|RSRC1_ENST00000295930.3_Missense_Mutation_p.A301V|RSRC1_ENST00000480820.1_Missense_Mutation_p.A301V|RSRC1_ENST00000312179.6_Missense_Mutation_p.A243V NM_001271834.1 NP_001258763.1 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 301 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AATTCCCTGGCCCATCCAAAT 0.398000 19 68 0 0 0.000720815 0 0 PCED1B 91523 broad.mit.edu 37 12 47629854 47629854 + Silent SNP T T A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:47629854T>A ENST00000546455.1 + 4 1739 c.1008T>A c.(1006-1008)ggT>ggA p.G336G PCED1B_ENST00000432328.1_Silent_p.G336G PC-esterase domain containing 1B TCCCACAGGGTCCCCCAGATG 0.582000 29 312 0 0 0.00283554 0 0 RRP15 51018 broad.mit.edu 37 1 218475769 218475769 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:218475769C>T ENST00000366932.3 + 2 303 c.273C>T c.(271-273)ggC>ggT p.G91G RRP15_ENST00000491428.1_3'UTR NM_016052.3 NP_057136.2 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog (S. cerevisiae) 91 mitochondrion|nucleolus protein binding ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) CTAATATGGGCTGGGCAGATG 0.408000 14 41 0 0 0.00244969 0 0 PRSS1 5644 broad.mit.edu 37 7 142458429 142458429 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:142458429G>A ENST00000486171.1 + 2 81 c.64G>A c.(64-66)Gac>Aac p.D22N PRSS1_ENST00000311737.7_Missense_Mutation_p.D22N P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 22 D -> G (in PCTT; increased rate of activation). 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) TGATGATGATGACAAGATCGT 0.532000 19 136 0 0 0.000878237 0 0 OLFML1 283298 broad.mit.edu 37 11 7530733 7530733 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:7530733G>A ENST00000329293.3 + 3 917 c.523G>A c.(523-525)Gtg>Atg p.V175M OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Missense_Mutation_p.V175M NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 175 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CTCTCCAAAGGTGTACTTATT 0.418000 25 57 0 0 0.00106085 0 0 OR4N2 390429 broad.mit.edu 37 14 20296196 20296196 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:20296196C>T ENST00000315947.1 + 1 589 c.589C>T c.(589-591)Ctt>Ttt p.L197F OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 197 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) TGTGGTGGAGCTTCTGATGGT 0.532000 23 51 0 0 0.00188189 0 0 PCLO 27445 broad.mit.edu 37 7 82453723 82453723 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:82453723C>T ENST00000423517.2 - 19 14762 c.14425G>A c.(14425-14427)Gat>Aat p.D4809N PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.D4809N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4671 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 CTAGATAAATCAATCAATACC 0.328000 23 38 0 0 0.00047179 0 0 WWP1 11059 broad.mit.edu 37 8 87439898 87439898 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:87439898G>A ENST00000517970.1 + 11 1491 c.1184G>A c.(1183-1185)aGa>aAa p.R395K WWP1_ENST00000349423.2_Missense_Mutation_p.R177K|WWP1_ENST00000341922.2_Missense_Mutation_p.R265K|WWP1_ENST00000265428.4_Missense_Mutation_p.R395K NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 395 WW 2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 GATGATCGTAGAAGAGTTTAT 0.373000 23 51 0 0 0.000586117 0 0 PDE6A 5145 broad.mit.edu 37 5 149324129 149324129 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:149324129G>A ENST00000255266.5 - 1 227 c.108C>T c.(106-108)ctC>ctT p.L36L NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 36 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) TGGCCCCAAGGAGGTCGGAGA 0.557000 25 9 0 0 0.000586117 0 0 PTPRB 5787 broad.mit.edu 37 12 70990070 70990070 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:70990070C>T ENST00000334414.6 - 5 1061 c.1017G>A c.(1015-1017)gaG>gaA p.E339E PTPRB_ENST00000451516.2_Silent_p.E121E|PTPRB_ENST00000550857.1_Silent_p.E121E|PTPRB_ENST00000551525.1_Silent_p.E338E|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Silent_p.E121E|PTPRB_ENST00000538708.1_Silent_p.E121E|PTPRB_ENST00000550358.1_Silent_p.E339E NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 121 Fibronectin type-III 4. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AAGTCGTCTTCTCTTTACTGA 0.373000 30 14 0 0 0.00106085 0 0 C20orf26 26074 broad.mit.edu 37 20 20051576 20051576 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:20051576C>T ENST00000245957.5 + 3 298 c.222C>T c.(220-222)ccC>ccT p.P74P C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Silent_p.P74P|C20orf26_ENST00000451767.2_Silent_p.P74P NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 74 P -> R (in dbSNP:rs17852602). NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TGGACTACCCCAACTGGAATG 0.502000 18 38 0 0 0.00074312 0 0 KCTD14 65987 broad.mit.edu 37 11 77728170 77728170 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:77728170G>A ENST00000353172.5 - 2 281 c.237C>T c.(235-237)atC>atT p.I79I NDUFC2-KCTD14_ENST00000528251.1_3'UTR|KCTD14_ENST00000533144.1_Silent_p.I49I|NDUFC2-KCTD14_ENST00000530054.1_3'UTR NM_001203260.1|NM_001203262.1|NM_023930.3 NP_001190189.1|NP_001190191.1|NP_076419.2 Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 79 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) TGGGGCGGTCGATGAAGAAGC 0.597000 8 32 0 0 0.000157383 0 0 MYO5C 55930 broad.mit.edu 37 15 52497127 52497127 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:52497127C>T ENST00000261839.7 - 38 4916 c.4755G>A c.(4753-4755)gcG>gcA p.A1585A RP11-430B1.2_ENST00000560518.1_lincRNA NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1585 Dilute. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TCAGCGTGACCGCCCCGATCA 0.577000 7 15 0 0 0.00198382 0 0 TM6SF1 53346 broad.mit.edu 37 15 83791524 83791524 + Missense_Mutation SNP G G A rs142876988 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:83791524G>A ENST00000322019.9 + 6 771 c.497G>A c.(496-498)cGa>cAa p.R166Q TM6SF1_ENST00000565774.1_Missense_Mutation_p.R166Q|TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000379386.4_Missense_Mutation_p.R169Q Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 166 integral to membrane p.R166Q(1) endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TATGGAACACGAATTTGCCCT 0.368000 27 43 0 0 0.00127121 0 0 ACOT11 26027 broad.mit.edu 37 1 55072900 55072900 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:55072900C>T ENST00000371316.3 + 14 1546 c.1464C>T c.(1462-1464)ttC>ttT p.F488F ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.F488F NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 488 START. 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 CCCAGGACTTCGTGATCCTGG 0.627000 8 22 0 0 0.000442599 0 0 DSP 1832 broad.mit.edu 37 6 7569418 7569418 + Splice_Site SNP G G A rs34543842 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:7569418G>A ENST00000379802.3 + 12 1760 c.e12-1 DSP_ENST00000418664.2_Splice_Site NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 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) TTGCCTTACAGAAAATCGTGC 0.448000 38 49 0 0 0.00285205 0 0 MROH9 80133 broad.mit.edu 37 1 170961410 170961410 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:170961410G>A ENST00000367759.4 + 12 1288 c.1134G>A c.(1132-1134)gaG>gaA p.E378E MROH9_ENST00000367758.3_Silent_p.E378E NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 GGGAAATGGAGGACACCGTAA 0.468000 23 54 0 0 0.000586117 0 0 SBF1 6305 broad.mit.edu 37 22 50894685 50894685 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:50894685G>A ENST00000380817.2 - 31 4409 c.4226C>T c.(4225-4227)tCc>tTc p.S1409F SBF1_ENST00000348911.6_Missense_Mutation_p.S1384F|SBF1_ENST00000390679.3_Missense_Mutation_p.S1383F NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1383 Myotubularin phosphatase. 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) GCGCAGGAAGGAGGCTGGGCT 0.637000 4 15 0 0 0.00024832 0 0 TTN 7273 broad.mit.edu 37 2 179517007 179517007 + Silent SNP T T C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179517007T>C ENST00000589042.1 - 203 39419 c.39195A>G c.(39193-39195)gaA>gaG p.E13065E TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.E11558E|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.E10631E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11416 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) TGGGTGGCACTTCAGGCTTTT 0.378000 30 251 0 0 0.00283554 0 0 SUCO 51430 broad.mit.edu 37 1 172501640 172501640 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:172501640C>T ENST00000367723.3 + 1 152 c.28C>T c.(28-30)Cta>Tta p.L10L NM_016227.2 NP_057311.2 SUN domain containing ossification factor ACGCCCCTTTCTATCTACCAA 0.502000 19 20 0 0 0.000720815 0 0 DNAH5 1767 broad.mit.edu 37 5 13737541 13737541 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:13737541C>T ENST00000265104.4 - 66 11379 c.11275G>A c.(11275-11277)Gaa>Aaa p.E3759K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3759 AAA 5 (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) TCTTCTAGTTCCTTCATCCTT 0.383000 Kartagener syndrome 44 54 0 0 0.00222228 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80972384 80972384 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:80972384C>T ENST00000320865.3 - 5 367 c.354G>A c.(352-354)atG>atA p.M118I B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR NM_001009905.1 NP_001009905.1 Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 118 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GCTGGGGCATCATGACGTCAT 0.493000 31 53 0 0 0.000692331 0 0 CECR1 51816 broad.mit.edu 37 22 17684584 17684584 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:17684584C>T ENST00000399839.1 - 4 892 c.622G>A c.(622-624)Gaa>Aaa p.E208K CECR1_ENST00000399837.2_Missense_Mutation_p.E208K|CECR1_ENST00000449907.2_Missense_Mutation_p.E166K|CECR1_ENST00000262607.3_Missense_Mutation_p.E208K Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 208 Substrate binding. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) AAGATGGTTTCAAATTTCGAC 0.488000 6 44 0 0 0.00116845 0 0 CDH18 1016 broad.mit.edu 37 5 19591191 19591191 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:19591191C>T ENST00000507958.1 - 9 1964 c.974G>A c.(973-975)aGa>aAa p.R325K CDH18_ENST00000511273.1_Missense_Mutation_p.R325K|CDH18_ENST00000382275.1_Missense_Mutation_p.R325K|CDH18_ENST00000502796.1_Missense_Mutation_p.R325K|CDH18_ENST00000274170.4_Missense_Mutation_p.R325K|CDH18_ENST00000506372.1_Missense_Mutation_p.R325K Q13634 CAD18_HUMAN cadherin 18, type 2 325 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GATTCCTTCTCTGGTCTCTTT 0.403000 29 43 0 0 0.00178596 0 0 HYDIN 54768 broad.mit.edu 37 16 70841964 70841964 + Splice_Site SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:70841964G>A ENST00000393567.2 - 86 15035 c.14883_splice c.e86-1 p.T4962_splice NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4962 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) TGTACAGTCGGTCTGAAAGGG 0.542000 16 45 0 0 0.00121646 0 0 COL5A2 1290 broad.mit.edu 37 2 189927735 189927735 + Splice_Site SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:189927735C>T ENST00000374866.3 - 28 2198 c.e28+1 NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 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) TGTATATTTACCCTCTGCCCA 0.368000 37 67 0 0 0.00128727 0 0 HEATR2 54919 broad.mit.edu 37 7 796514 796514 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:796514C>T ENST00000297440.6 + 6 1373 c.1353C>T c.(1351-1353)tcC>tcT p.S451S HEATR2_ENST00000313147.5_Silent_p.S451S NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 451 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CCTCTGCCTCCGGCCTCCTGG 0.642000 32 42 0 0 0.000814825 0 0 MERTK 10461 broad.mit.edu 37 2 112755015 112755015 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:112755015C>T ENST00000295408.4 + 10 1823 c.1566C>T c.(1564-1566)tcC>tcT p.S522S MERTK_ENST00000409780.1_Silent_p.S346S|MERTK_ENST00000421804.2_Silent_p.S522S Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 522 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 TATACATCTCCTTGGCCATCA 0.448000 19 41 0 0 0.00074312 0 0 LGALS4 3960 broad.mit.edu 37 19 39293023 39293023 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:39293023G>A ENST00000307751.4 - 8 1069 c.592C>T c.(592-594)Ctg>Ttg p.L198L NM_006149.3 NP_006140.1 P56470 LEG4_HUMAN lectin, galactoside-binding, soluble, 4 198 Galectin 2. 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) CCTCCTTGCAGCCTCCCGAAA 0.522000 67 43 0 0 0.000781405 0 0 NEURL4 84461 broad.mit.edu 37 17 7230508 7230508 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:7230508G>A ENST00000399464.2 - 3 784 c.769C>T c.(769-771)Cct>Tct p.P257S NEURL4_ENST00000570460.1_Intron|NEURL4_ENST00000315614.7_Missense_Mutation_p.P257S NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGGCTGTTAGGAAACGTCTCC 0.627000 9 8 0 0 0.000673444 0 0 GPR123 84435 broad.mit.edu 37 10 134898530 134898530 + Missense_Mutation SNP G G A rs138358765 by1000genomes TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:134898530G>A ENST00000607359.1 + 8 1592 c.1592G>A c.(1591-1593)cGa>cAa p.R531Q Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GAATCCGGGCGATACGTGGTG 0.512000 33 18 0 0 0.00128727 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95111306 95111306 + RNA SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:95111306C>T ENST00000469935.1 + 0 1126 NR_015340.1 AACTCGATTTCCACTTCCCCA 0.542000 4 37 0 0 0.00116845 0 0 KIAA1109 84162 broad.mit.edu 37 4 123113461 123113461 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:123113461C>T ENST00000264501.4 + 11 1352 c.979C>T c.(979-981)Cca>Tca p.P327S KIAA1109_ENST00000455637.1_Missense_Mutation_p.P327S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P327S Q2LD37 K1109_HUMAN KIAA1109 327 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 AGACTTGCCTCCATGTTGGGG 0.373000 25 39 0 0 0.00047179 0 0 PTPRT 11122 broad.mit.edu 37 20 40739014 40739014 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:40739014G>A ENST00000373198.3 - 24 3514 c.3279C>T c.(3277-3279)ttC>ttT p.F1093F PTPRT_ENST00000373193.3_Silent_p.F1074F|PTPRT_ENST00000373187.1_Silent_p.F1071F|PTPRT_ENST00000373201.1_Silent_p.F1061F|PTPRT_ENST00000373184.1_Silent_p.F1081F|PTPRT_ENST00000356100.2_Silent_p.F1080F|PTPRT_ENST00000373190.1_Silent_p.F1070F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1071 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) GGGGGTTGAGGAACTTGACCT 0.627000 17 27 0 0 0.00074312 0 0 IL1R2 7850 broad.mit.edu 37 2 102638686 102638686 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:102638686C>T ENST00000332549.3 + 6 955 c.726C>T c.(724-726)ccC>ccT p.P242P IL1R2_ENST00000393414.2_Silent_p.P242P|IL1R2_ENST00000441002.1_Silent_p.P242P NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 242 Ig-like C2-type 3. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) TCATTTCCCCCCTCAAGACCA 0.498000 40 110 0 0 0.00195071 0 0 MUC16 94025 broad.mit.edu 37 19 9076887 9076887 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:9076887G>A ENST00000397910.4 - 3 10762 c.10559C>T c.(10558-10560)tCa>tTa p.S3520L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3521 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 CGCAGGAGATGAAGTCTGAGA 0.507000 44 40 0 0 0.00285205 0 0 NOTCH2 4853 broad.mit.edu 37 1 120506229 120506229 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:120506229C>T ENST00000256646.2 - 11 2102 c.1883G>A c.(1882-1884)gGc>gAc p.G628D NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 628 EGF-like 16; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GCACTGGTAGCCATTGACCAG 0.502000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 100 192 0 0 0.000781405 0 0 KCNK5 8645 broad.mit.edu 37 6 39159497 39159497 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:39159497G>A ENST00000359534.3 - 5 1007 c.669C>T c.(667-669)taC>taT p.Y223Y NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 223 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 CGAAGTAGCGGTACAGGGCGT 0.562000 19 53 0 0 0.00278032 0 0 CTAGE5 4253 broad.mit.edu 37 14 39818088 39818088 + Missense_Mutation SNP T T C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:39818088T>C ENST00000553728.1 + 27 3973 c.3760T>C c.(3760-3762)Ttc>Ctc p.F1254L CTAGE5_ENST00000341749.3_Missense_Mutation_p.F707L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.F719L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.F690L|CTAGE5_ENST00000557038.1_Missense_Mutation_p.F639L|CTAGE5_ENST00000280083.3_Missense_Mutation_p.F719L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.F724L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.F690L|CTAGE5_ENST00000556148.1_Missense_Mutation_p.F644L|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000348007.3_Missense_Mutation_p.F676L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.F690L AGGACCTCCTTTCCCCCCACC 0.537000 9 94 0 0 0.000442599 0 0 ECT2 1894 broad.mit.edu 37 3 172473144 172473144 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:172473144G>A ENST00000417960.1 + 4 664 c.187G>A c.(187-189)Gaa>Aaa p.E63K ECT2_ENST00000441497.2_Missense_Mutation_p.E64K|ECT2_ENST00000540509.1_Missense_Mutation_p.E64K|ECT2_ENST00000427830.1_Missense_Mutation_p.E64K|ECT2_ENST00000232458.5_Missense_Mutation_p.E64K|ECT2_ENST00000392692.3_Missense_Mutation_p.E64K NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 64 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 Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) AAAACAAGAAGAACTTATAAA 0.294000 21 32 0 0 0.00229938 0 0 PPL 5493 broad.mit.edu 37 16 4949107 4949107 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:4949107C>T ENST00000345988.2 - 8 872 c.783G>A c.(781-783)cgG>cgA p.R261R PPL_ENST00000590782.2_Silent_p.R259R NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 261 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CCTCCAGGTTCCGGTTGATGA 0.637000 23 44 0 0 0.00047179 0 0 IKZF1 10320 broad.mit.edu 37 7 50459562 50459562 + Splice_Site SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:50459562G>A ENST00000331340.3 + 7 1005 c.e7+1 IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000440768.2_Splice_Site|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000439701.1_Splice_Site|IKZF1_ENST00000343574.5_Splice_Site|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000438033.1_Splice_Site|IKZF1_ENST00000359197.5_Splice_Site NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(27) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) AAATTTCTTGGTAAGAGTTAA 0.398000 """D,T""" BCL6 """ALL, DLBCL""" 8 7 0 0 0.000157383 0 0 OR4D5 219875 broad.mit.edu 37 11 123810407 123810407 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:123810407C>T ENST00000307033.2 + 1 158 c.84C>T c.(82-84)ttC>ttT p.F28F NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) TTGTTTTCTTCACTGTTTTCT 0.453000 44 18 0 0 0.0025221 0 0 GPX5 2880 broad.mit.edu 37 6 28500198 28500198 + Splice_Site SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:28500198G>A ENST00000412168.2 + 4 548 c.e4+1 GPX5_ENST00000469384.1_Splice_Site|GPX5_ENST00000442674.2_Splice_Site NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) TTTCTTGAAGGTGAGTAAATT 0.453000 9 23 0 0 0.000442599 0 0 MYH4 4622 broad.mit.edu 37 17 10362699 10362699 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:10362699C>T ENST00000255381.2 - 15 1566 c.1456G>A c.(1456-1458)Gag>Aag p.E486K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 486 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 TGCAGTTTCTCGTTGGTGAAG 0.433000 34 24 0 0 0.00128727 0 0 EVPL 2125 broad.mit.edu 37 17 74003217 74003217 + Silent SNP G G A rs144079186 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:74003217G>A ENST00000301607.3 - 22 6322 c.6069C>T c.(6067-6069)tcC>tcT p.S2023S EVPL_ENST00000586740.1_Silent_p.S2045S NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 2023 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 TGGGGGAGGCGGAGCGGTAGC 0.682000 10 26 0 0 0.000442599 0 0 HYAL1 3373 broad.mit.edu 37 3 50339712 50339712 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:50339712G>A ENST00000266031.4 - 1 1291 c.676C>T c.(676-678)Cgt>Tgt p.R226C HYAL1_ENST00000395144.2_Missense_Mutation_p.R226C|HYAL1_ENST00000320295.8_Missense_Mutation_p.R226C|HYAL1_ENST00000395143.2_Missense_Mutation_p.R226C|HYAL1_ENST00000457214.2_Missense_Mutation_p.R44C|HYAL1_ENST00000447605.2_Intron Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 226 extracellular space|lysosome hyalurononglucosaminidase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) TTTTGGGCACGGATGCCTGAT 0.602000 10 6 0 0 0.00136819 0 0 OR2L8 391190 broad.mit.edu 37 1 248112734 248112734 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:248112734G>A ENST00000357191.3 + 1 575 c.575G>A c.(574-576)tGg>tAg p.W192* OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATGGACACCTGGGTCTATGAG 0.468000 8 18 0 0 0.00185496 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47533216 47533216 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:47533216C>T ENST00000334194.3 + 1 57 c.54C>T c.(52-54)atC>atT p.I18I NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 18 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 TGCTGCTGATCCTCCTCTGCA 0.562000 10 20 0 0 0.00185496 0 0 ETV6 2120 broad.mit.edu 37 12 12022505 12022505 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:12022505C>T ENST00000396373.4 + 5 885 c.611C>T c.(610-612)cCc>cTc p.P204L NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 204 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CTCCGGTCCCCCCTGGACAAC 0.632000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 40 70 0 0 0.0025221 0 0 BRD1 23774 broad.mit.edu 37 22 50169268 50169268 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:50169268G>A ENST00000216267.8 - 11 3450 c.2964C>T c.(2962-2964)ctC>ctT p.L988L BRD1_ENST00000404760.1_Silent_p.L1119L|BRD1_ENST00000404034.1_Silent_p.L988L|BRD1_ENST00000342989.5_Silent_p.L714L|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000542442.1_Silent_p.L676L NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 988 PWWP. histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) AAAAGAGAACGAGGAACAGCT 0.587000 68 97 0 0 0.000781405 0 0 ART5 116969 broad.mit.edu 37 11 3661430 3661430 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:3661430C>T ENST00000397068.3 - 2 621 c.229G>A c.(229-231)Gac>Aac p.D77N ART5_ENST00000359918.4_Missense_Mutation_p.D77N|ART5_ENST00000397067.3_Missense_Mutation_p.D77N NM_053017.3 NP_443750.2 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 77 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) CGACGCTTGTCCTCCCAGGTC 0.577000 18 19 0 0 0.00121646 0 0 PCIF1 63935 broad.mit.edu 37 20 44569573 44569573 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:44569573C>T ENST00000372409.3 + 6 877 c.513C>T c.(511-513)ccC>ccT p.P171P NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 171 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 TCCTACGACCCACTGAGTGAG 0.602000 15 21 0 0 0.00244969 0 0 OR2T3 343173 broad.mit.edu 37 1 248637188 248637188 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:248637188C>T ENST00000359594.2 + 1 562 c.537C>T c.(535-537)atC>atT p.I179I NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTAGGAAAATCCTGAGTTTTT 0.522000 40 59 0 0 0.00285205 0 0 STAB2 55576 broad.mit.edu 37 12 104109615 104109615 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:104109615C>T ENST00000388887.2 + 43 4764 c.4560C>T c.(4558-4560)aaC>aaT p.N1520N NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1520 EGF-like 13. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GTTTGGAGAACCATGGTGGCT 0.502000 29 19 0 0 0.00209593 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925386 67925386 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:67925386C>T ENST00000304363.4 - 11 2780 c.2427G>A c.(2425-2427)ttG>ttA p.L809L NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 809 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TTCGAGACTCCAAGAGAGAAA 0.443000 66 118 0 0 0.000781405 0 0 NLRP8 126205 broad.mit.edu 37 19 56499263 56499263 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:56499263C>T ENST00000291971.3 + 10 3202 c.3131C>T c.(3130-3132)tCc>tTc p.S1044F NLRP8_ENST00000590542.1_Missense_Mutation_p.S1025F NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 1044 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) GACTGCCTATCCCAGATTAAT 0.502000 18 35 0 0 0.000958276 0 0 SLC4A1 6521 broad.mit.edu 37 17 42338145 42338145 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:42338145C>T ENST00000262418.6 - 5 362 c.207G>A c.(205-207)aaG>aaA p.K69K SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 69 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GCTCCTGGTTCTTTTCGTCCA 0.617000 15 8 0 0 0.00074312 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270746 1270746 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:1270746G>A ENST00000348261.5 + 35 7062 c.6814G>A c.(6814-6816)Gac>Aac p.D2272N CACNA1H_ENST00000358590.4_Missense_Mutation_p.D2266N|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D2266N NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2272 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TGAGCCGCTGGACCTCGGGGT 0.677000 13 10 0 0 0.00244969 0 0 LRRN1 57633 broad.mit.edu 37 3 3886446 3886446 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:3886446C>T ENST00000319331.3 + 2 882 c.121C>T c.(121-123)Cgt>Tgt p.R41C SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 41 LRRNT. 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) ATGTGAAATTCGTCCCTGGTT 0.458000 33 19 0 0 0.00283554 0 0 GPR111 222611 broad.mit.edu 37 6 47654739 47654739 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:47654739C>T ENST00000398742.2 + 6 1924 c.1875C>T c.(1873-1875)atC>atT p.I625I GPR115_ENST00000371220.1_Intron Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 0 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GTTTCTTCATCCTAGTGTTTG 0.358000 30 81 0 0 0.00111076 0 0 ANKRD36 375248 broad.mit.edu 37 2 97849224 97849224 + Splice_Site SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:97849224G>A ENST00000420699.2 + 27 2110 c.1866_splice c.e27+1 p.K622_splice ANKRD36_ENST00000461153.2_Splice_Site_p.K622_splice NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 622 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CGGCCTGGAAGGTAGTTACTC 0.279000 3 7 0 0 0.000602214 0 0 ZNF711 7552 broad.mit.edu 37 X 84526624 84526624 + Silent SNP A A G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:84526624A>G ENST00000360700.4 + 10 3100 c.2214A>G c.(2212-2214)aaA>aaG p.K738K ZNF711_ENST00000395402.1_Silent_p.K700K|ZNF711_ENST00000276123.3_Silent_p.K692K|ZNF711_ENST00000373165.3_Silent_p.K692K|ZNF711_ENST00000542798.1_Silent_p.K534K Q9Y462 ZN711_HUMAN zinc finger protein 711 692 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 ATGAGCTAAAAAAACATATGA 0.358000 11 34 0 0 0.000673444 0 0 MCPH1 79648 broad.mit.edu 37 8 6302358 6302358 + Missense_Mutation SNP A A G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:6302358A>G ENST00000344683.5 + 8 1191 c.1115A>G c.(1114-1116)aAg>aGg p.K372R MCPH1_ENST00000519480.1_Missense_Mutation_p.K372R|MCPH1_ENST00000522905.1_Missense_Mutation_p.K324R NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 372 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) GAAAAATGCAAGAGAAAGAGG 0.522000 7 37 0 0 0.00198382 0 0 ADAM19 8728 broad.mit.edu 37 5 156918648 156918648 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:156918648G>A ENST00000257527.4 - 18 2148 c.2070C>T c.(2068-2070)atC>atT p.I690I ADAM19_ENST00000394020.1_Silent_p.I692I|ADAM19_ENST00000517905.1_Silent_p.I690I|ADAM19_ENST00000430702.2_Silent_p.I423I NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 690 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCCACTGTCGATACTGCCCC 0.637000 6 4 0 0 0.00198382 0 0 NWD1 284434 broad.mit.edu 37 19 16860679 16860679 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:16860679C>T ENST00000524140.2 + 6 1644 c.1226C>T c.(1225-1227)gCc>gTc p.A409V NWD1_ENST00000552788.1_Missense_Mutation_p.A409V|NWD1_ENST00000549814.1_Missense_Mutation_p.A409V|NWD1_ENST00000523826.1_Missense_Mutation_p.A203V|NWD1_ENST00000379808.3_Missense_Mutation_p.A409V|NWD1_ENST00000339803.6_Missense_Mutation_p.A274V NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 409 NACHT. 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 GTTCTGGACGCCCACACCAGG 0.582000 16 11 0 0 0.00074312 0 0 FBLN2 2199 broad.mit.edu 37 3 13679197 13679197 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:13679197C>T ENST00000404922.3 + 18 3593 c.3474C>T c.(3472-3474)gcC>gcT p.A1158A FBLN2_ENST00000535798.1_Silent_p.A1137A|FBLN2_ENST00000492059.1_Silent_p.A1158A|FBLN2_ENST00000295760.7_Silent_p.A1111A NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 1111 Domain III. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CCGCGCCAGCCTTCACGGGGG 0.622000 4 8 0 0 0.000602214 0 0 LRRC6 23639 broad.mit.edu 37 8 133595957 133595957 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:133595957C>T ENST00000519595.1 - 11 1308 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K LRRC6_ENST00000518642.1_Missense_Mutation_p.E401K|LRRC6_ENST00000250173.1_Missense_Mutation_p.E404K Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 404 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTTGTTTGTTCTCTGCTCCTG 0.403000 22 42 0 0 0.00047179 0 0 MAGEB10 139422 broad.mit.edu 37 X 27839446 27839446 + Missense_Mutation SNP A A G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:27839446A>G ENST00000356790.2 + 3 268 c.23A>G c.(22-24)aAa>aGa p.K8R NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 8 NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 CAGAAGAGTAAACTCCGTGCC 0.527000 13 9 0 0 0.00185496 0 0 NAALAD2 10003 broad.mit.edu 37 11 89868809 89868809 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:89868809G>A ENST00000534061.1 + 2 395 c.165G>A c.(163-165)atG>atA p.M55I NAALAD2_ENST00000525171.1_Missense_Mutation_p.M55I|NAALAD2_ENST00000375944.3_Missense_Mutation_p.M55I|NAALAD2_ENST00000321955.4_Missense_Mutation_p.M55I NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 55 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TATCCGAAATGAAAGCTGAAA 0.328000 31 47 0 0 0.000692331 0 0 NPHS1 4868 broad.mit.edu 37 19 36330412 36330412 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:36330412C>T ENST00000378910.5 - 21 2912 c.2913G>A c.(2911-2913)caG>caA p.Q971Q NPHS1_ENST00000353632.6_Silent_p.Q971Q NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 971 Fibronectin type-III. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 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) TGCAGAACCTCTGTGGCAGGC 0.592000 37 40 0 0 0.000781405 0 0 PCNT 5116 broad.mit.edu 37 21 47831878 47831878 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr21:47831878C>T ENST00000359568.5 + 28 5998 c.5891C>T c.(5890-5892)gCc>gTc p.A1964V PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1964 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) GTGCCCGGGGCCCACCCACAG 0.697000 5 11 0 0 0.000602214 0 0 KIAA1161 57462 broad.mit.edu 37 9 34372240 34372240 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:34372240C>T ENST00000297625.7 - 2 825 c.600G>A c.(598-600)gcG>gcA p.A200A NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 234 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) TGATGGCGGCCGCGCGCGAAG 0.652000 3 4 0 0 0.00024832 0 0 DAGLA 747 broad.mit.edu 37 11 61511889 61511889 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:61511889C>T ENST00000257215.5 + 20 3173 c.3057C>T c.(3055-3057)atC>atT p.I1019I NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 1019 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity p.I1019I(1) 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) CTGACAAGATCCGGACTTCTA 0.662000 17 22 0 0 0.00074312 0 0 COL8A1 1295 broad.mit.edu 37 3 99513711 99513711 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:99513711G>A ENST00000261037.3 + 5 1346 c.966G>A c.(964-966)ggG>ggA p.G322G COL8A1_ENST00000273342.4_Silent_p.G322G NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 322 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 GCCAGGATGGGATCCCAGGCC 0.632000 9 23 0 0 0.000274275 0 0 MUC5B 727897 broad.mit.edu 37 11 1252739 1252739 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:1252739C>T ENST00000447027.1 + 14 1694 c.1636C>T c.(1636-1638)Ctc>Ttc p.L546F MUC5B_ENST00000529681.1_Missense_Mutation_p.L543F Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 543 VWFD 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCTGGTGCCACTCATGCAGGT 0.667000 3 5 0 0 6.4e-05 0 0 DHRS3 9249 broad.mit.edu 37 1 12628406 12628406 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:12628406G>A ENST00000376223.2 - 6 1255 c.872C>T c.(871-873)aCc>aTc p.T291I NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 291 retinol metabolic process|visual perception integral to membrane electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) GCAGGTGTAGGTTCCTGAGAA 0.527000 40 58 0 0 0.000781405 0 0 CEP350 9857 broad.mit.edu 37 1 179989945 179989945 + Missense_Mutation SNP A A T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:179989945A>T ENST00000367607.3 + 12 3454 c.3036A>T c.(3034-3036)ttA>ttT p.L1012F NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1012 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CAGAAATTTTAAAAGAAAAGG 0.408000 27 62 0 0 0.000720815 0 0 CCDC60 160777 broad.mit.edu 37 12 119961610 119961610 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:119961610G>A ENST00000327554.2 + 11 1681 c.1216G>A c.(1216-1218)Gaa>Aaa p.E406K RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 406 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GGACAAGATGGAAATCCTCAT 0.493000 26 8 0 0 0.000720815 0 0 PIK3R5 23533 broad.mit.edu 37 17 8790475 8790475 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:8790475C>T ENST00000447110.1 - 12 1967 c.1843G>A c.(1843-1845)Gac>Aac p.D615N PIK3R5_ENST00000581552.1_Missense_Mutation_p.D615N|PIK3R5_ENST00000584803.1_Missense_Mutation_p.D615N NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 615 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 TACCAGGGGTCCAGCATGCCG 0.612000 17 12 0 0 0.00074312 0 0 AGAP1 116987 broad.mit.edu 37 2 237028969 237028969 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:237028969C>T ENST00000409538.1 + 16 3380 c.2884C>T c.(2884-2886)Ctg>Ttg p.L962L AGAP1_ENST00000336665.5_Silent_p.L697L|AGAP1_ENST00000304032.7_Silent_p.L750L|AGAP1_ENST00000428334.2_Silent_p.L589L Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 750 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GACGGCCATCCTGCTGCTGGC 0.716000 22 22 0 0 0.000586117 0 0 ITGAD 3681 broad.mit.edu 37 16 31435519 31435519 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:31435519G>A ENST00000389202.2 + 28 3305 c.3256G>A c.(3256-3258)Gct>Act p.A1086T NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 1086 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 ATTTATGAGAGCTCAGGTAGA 0.562000 16 21 0 0 0.000422831 0 0 USP8 9101 broad.mit.edu 37 15 50741605 50741605 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:50741605C>T ENST00000433963.1 + 5 758 c.258C>T c.(256-258)ttC>ttT p.F86F USP8_ENST00000396444.3_Silent_p.F86F|USP8_ENST00000307179.4_Silent_p.F86F|USP8_ENST00000425032.3_Intron NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 86 MIT. 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) AGGATTATTTCCATTCAATAC 0.318000 12 17 0 0 0.00185496 0 0 PCDH20 64881 broad.mit.edu 37 13 61987393 61987393 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:61987393C>T ENST00000409186.1 - 5 2944 c.839G>A c.(838-840)aGg>aAg p.R280K PCDH20_ENST00000409204.4_Missense_Mutation_p.R280K Q8N6Y1 PCD20_HUMAN protocadherin 20 253 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CTGGGTTTCCCTGTCCAAAGC 0.522000 20 25 0 0 0.000958276 0 0 KDM3A 55818 broad.mit.edu 37 2 86711263 86711263 + Nonsense_Mutation SNP G G T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:86711263G>T ENST00000409556.1 + 20 3441 c.3076G>T c.(3076-3078)Gga>Tga p.G1026* KDM3A_ENST00000312912.5_Nonsense_Mutation_p.G1026*|KDM3A_ENST00000542128.1_Nonsense_Mutation_p.G974*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.G1026* Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 1026 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 CTTCTGGGATGGATTTGAAGA 0.453000 25 22 1.96895e-08 8.7463e-08 0.00278032 1 0 SLC12A9 56996 broad.mit.edu 37 7 100460418 100460418 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:100460418G>A ENST00000354161.3 + 13 1952 c.1827G>A c.(1825-1827)ggG>ggA p.G609G SLC12A9_ENST00000540482.1_Silent_p.G609G|SLC12A9_ENST00000415287.1_Silent_p.G520G|SLC12A9_ENST00000275729.3_Silent_p.G520G|SLC12A9_ENST00000428758.1_Silent_p.G609G NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 609 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) TGCGCCAGGGGGCTCAGCATC 0.637000 20 52 0 0 0.00278032 0 0 RAB7L1 8934 broad.mit.edu 37 1 205739492 205739492 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:205739492G>A ENST00000367139.3 - 6 893 c.590C>T c.(589-591)tCc>tTc p.S197F RAB7L1_ENST00000235932.4_Missense_Mutation_p.S197F|RAB7L1_ENST00000437324.2_Missense_Mutation_p.S125F|RAB7L1_ENST00000446390.2_Missense_Mutation_p.S173F|RAB7L1_ENST00000414729.1_Missense_Mutation_p.S197F|RAB7L1_ENST00000468887.1_5'UTR NM_003929.2 NP_003920.1 O14966 RAB7L_HUMAN RAB7, member RAS oncogene family-like 1 197 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 10 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0194) CCAGCTGGAGGACTTGGTTTG 0.433000 9 33 0 0 0.000673444 0 0 WDR72 256764 broad.mit.edu 37 15 53991959 53991959 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:53991959C>T ENST00000396328.1 - 13 1992 c.1753G>A c.(1753-1755)Gaa>Aaa p.E585K WDR72_ENST00000557913.1_Missense_Mutation_p.E582K|WDR72_ENST00000559418.1_Missense_Mutation_p.E595K|WDR72_ENST00000360509.5_Missense_Mutation_p.E585K NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 585 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) GTTTCAATTTCCCAGATATAA 0.373000 43 93 0 0 0.000680045 0 0 CLCN7 1186 broad.mit.edu 37 16 1507738 1507738 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:1507738G>A ENST00000382745.4 - 8 1300 c.695C>T c.(694-696)tCc>tTc p.S232F CLCN7_ENST00000262318.8_Missense_Mutation_p.S208F|CLCN7_ENST00000448525.1_Missense_Mutation_p.S208F NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 232 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) GATCACACCGGACACTTTGAT 0.607000 12 36 0 0 0.000422831 0 0 TTN 7273 broad.mit.edu 37 2 179596099 179596099 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179596099C>T ENST00000589042.1 - 59 17618 c.17394G>A c.(17392-17394)ggG>ggA p.G5798G TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.G5481G|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.G4554G|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5481 Ig-like 39. 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) AGACATATTTCCCATCATGCT 0.408000 76 164 0 0 0.000781405 0 0 IGSF9 57549 broad.mit.edu 37 1 159904045 159904045 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:159904045G>A ENST00000368094.1 - 9 1236 c.1039C>T c.(1039-1041)Cgt>Tgt p.R347C IGSF9_ENST00000361509.3_Missense_Mutation_p.R331C NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 347 Ig-like 4. 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) GGGTTGGCACGAACCGGGCAG 0.622000 6 15 0 0 0.000157383 0 0 POTEC 388468 broad.mit.edu 37 18 14542999 14542999 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:14542999G>A ENST00000358970.5 - 1 146 c.147C>T c.(145-147)caC>caT p.H49H POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 49 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AGGAGTCGTCGTGGTCTCCAG 0.587000 16 194 0 0 0.00188189 0 0 CACNG7 59284 broad.mit.edu 37 19 54418697 54418697 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:54418697G>A ENST00000391767.1 + 4 574 c.362G>A c.(361-363)gGc>gAc p.G121D CACNG7_ENST00000222212.2_Missense_Mutation_p.G121D|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.G121D P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 121 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) AGCAACATCGGCCACATCCGC 0.597000 23 25 0 0 0.000586117 0 0 MARK3 4140 broad.mit.edu 37 14 103932026 103932026 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:103932026C>T ENST00000429436.2 + 8 1183 c.673C>T c.(673-675)Cag>Tag p.Q225* MARK3_ENST00000440884.3_Intron|MARK3_ENST00000303622.9_Nonsense_Mutation_p.Q225*|MARK3_ENST00000216288.7_Nonsense_Mutation_p.Q225*|MARK3_ENST00000416682.2_Nonsense_Mutation_p.Q248*|MARK3_ENST00000335102.5_Nonsense_Mutation_p.Q248*|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000553942.1_Nonsense_Mutation_p.Q225* NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 225 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) TGAGCTCTTCCAGGGCAAGAA 0.468000 8 93 0 0 0.000442599 0 0 BRINP2 57795 broad.mit.edu 37 1 177250635 177250635 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:177250635G>A ENST00000361539.4 + 8 2635 c.2323G>A c.(2323-2325)Gaa>Aaa p.E775K FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 775 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 AAACCCTGTGGAATATGAGAC 0.542000 39 58 0 0 0.000680045 0 0 BCL10 8915 broad.mit.edu 37 1 85742019 85742019 + Missense_Mutation SNP G G T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:85742019G>T ENST00000370580.1 - 1 754 c.17C>A c.(16-18)cCg>cAg p.P6Q NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 6 apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) GGTGAGGGACGGTGCGGTGGG 0.726000 T IGH@ MALT 4 37 0.00116845 0.00516158 0.00116845 1 0 LUZP2 338645 broad.mit.edu 37 11 24936070 24936070 + Missense_Mutation SNP G G A rs138759346 by1000genomes TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:24936070G>A ENST00000533227.1 + 7 537 c.250G>A c.(250-252)Gat>Aat p.D84N LUZP2_ENST00000336930.6_Missense_Mutation_p.D170N NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 170 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 TGGGAAGAAGGATTTATTATT 0.313000 8 27 0 0 0.000978159 0 0 EPHX1 2052 broad.mit.edu 37 1 226019506 226019506 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:226019506C>T ENST00000366837.4 + 3 406 c.210C>T c.(208-210)ttC>ttT p.F70F EPHX1_ENST00000272167.5_Silent_p.F70F|EPHX1_ENST00000467015.1_3'UTR NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 70 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) TCGATAAGTTCCGTTTCACCC 0.488000 25 51 0 0 0.000720815 0 0 TTN 7273 broad.mit.edu 37 2 179431857 179431857 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179431857C>T ENST00000589042.1 - 326 79226 c.79002G>A c.(79000-79002)tgG>tgA p.W26334* TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W17269*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W24693*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W17461*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W23766*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W17394*|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24693 Ig-like 127. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.W23764*(1)|p.W23766*(1)|p.W17394*(1)|p.W17269*(1)|p.W17461*(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAACAACAGTCCAGGCAAGTC 0.398000 37 73 0 0 0.000814825 0 0 MUC16 94025 broad.mit.edu 37 19 9069754 9069754 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:9069754G>A ENST00000397910.4 - 3 17895 c.17692C>T c.(17692-17694)Cca>Tca p.P5898S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5900 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 TCTGAGTGTGGAAATCTCTGA 0.517000 34 20 0 0 0.000692331 0 0 OR13C4 138804 broad.mit.edu 37 9 107289416 107289416 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:107289416G>A ENST00000277216.3 - 1 74 c.75C>T c.(73-75)atC>atT p.I25I NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 CAAAGAAAATGATCTCAAGTT 0.418000 26 9 0 0 0.000586117 0 0 SLIT2 9353 broad.mit.edu 37 4 20598263 20598263 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:20598263G>A ENST00000504154.1 + 32 3798 c.3546G>A c.(3544-3546)acG>acA p.T1182T SLIT2_ENST00000503837.1_Silent_p.T1178T|SLIT2_ENST00000503823.1_Silent_p.T1174T|SLIT2_ENST00000273739.5_Silent_p.T1195T NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1182 Laminin G-like. 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 GGCCTCAGACGAACATAACAC 0.383000 19 25 0 0 0.00152264 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518396 113518396 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:113518396G>A ENST00000284601.3 - 4 2819 c.2751C>T c.(2749-2751)tcC>tcT p.S917S NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 917 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TATGATGTTTGGAAAAAGGAG 0.393000 25 71 0 0 0.00047179 0 0 TATDN2 9797 broad.mit.edu 37 3 10312400 10312400 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:10312400C>T ENST00000287652.4 + 4 2585 c.1534C>T c.(1534-1536)Caa>Taa p.Q512* TATDN2_ENST00000448281.2_Nonsense_Mutation_p.Q512*|RP11-438J1.1_ENST00000450534.1_3'UTR NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 512 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GCTATCTTTCCAAGGGACCTT 0.498000 32 11 0 0 0.000692331 0 0 ADAM30 11085 broad.mit.edu 37 1 120438014 120438014 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:120438014C>T ENST00000369400.1 - 1 1104 c.946G>A c.(946-948)Gaa>Aaa p.E316K NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 316 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CCAGCATATTCTAGAGAACAC 0.408000 231 411 0 0 0.000781405 0 0 HAO2 51179 broad.mit.edu 37 1 119936430 119936430 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:119936430C>T ENST00000361035.4 + 9 1345 c.1062C>T c.(1060-1062)atC>atT p.I354I HAO2_ENST00000325945.3_Silent_p.I341I|HAO2_ENST00000482991.1_3'UTR NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 341 fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) TCGCTGAGATCAATCGAAACT 0.473000 45 80 0 0 0.000781405 0 0 ABCC1 4363 broad.mit.edu 37 16 16215849 16215849 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:16215849C>T ENST00000399408.2 + 25 3613 c.3438C>T c.(3436-3438)tcC>tcT p.S1146S ABCC1_ENST00000349029.5_Silent_p.S1021S|ABCC1_ENST00000346370.5_Silent_p.S1080S|ABCC1_ENST00000399410.3_Silent_p.S1136S|ABCC1_ENST00000345148.5_Silent_p.S1136S|ABCC1_ENST00000351154.5_Silent_p.S1077S P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1136 ABC transmembrane type-1 2. V -> I (in dbSNP:rs28706727). hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ACGTGGCTTCCTCCCGGCAGC 0.612000 12 21 0 0 0.00244969 0 0 DAGLA 747 broad.mit.edu 37 11 61504776 61504776 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:61504776C>T ENST00000257215.5 + 14 1610 c.1494C>T c.(1492-1494)tcC>tcT p.S498S NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 498 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) TTGCCTACTCCCCGCCAGGGG 0.657000 70 105 0 0 0.000781405 0 0 OR4K1 79544 broad.mit.edu 37 14 20404050 20404050 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:20404050C>T ENST00000285600.4 + 1 284 c.225C>T c.(223-225)aaC>aaT p.N75N NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N75K(1) 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) GTCAGTCTAACTTTGCCACCC 0.378000 15 140 0 0 0.000308642 0 0 RET 5979 broad.mit.edu 37 10 43606833 43606833 + Missense_Mutation SNP T T G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:43606833T>G ENST00000355710.3 + 7 1674 c.1442T>G c.(1441-1443)cTt>cGt p.L481R RET_ENST00000340058.5_Missense_Mutation_p.L481R NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 481 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 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) TGTGCCGAACTTCACTACATG 0.622000 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 4 20 0 0 0.00024832 0 0 LRTM1 57408 broad.mit.edu 37 3 54952869 54952869 + Nonsense_Mutation SNP T T A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:54952869T>A ENST00000273286.5 - 3 817 c.655A>T c.(655-657)Aag>Tag p.K219* CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Nonsense_Mutation_p.K143*|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 219 LRRCT. integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AGGAGGTCCTTTCCCTTCCAG 0.527000 12 6 0 0 0.000978159 0 0 PPM1G 5496 broad.mit.edu 37 2 27605342 27605342 + Splice_Site SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:27605342C>T ENST00000344034.4 - 8 1596 c.e8+1 PPM1G_ENST00000350803.4_Splice_Site NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) CCAGTGCTCACCAGATGCCAT 0.512000 39 80 0 0 0.00148497 0 0 CNTN2 6900 broad.mit.edu 37 1 205027462 205027462 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:205027462G>A ENST00000331830.4 + 4 653 c.369G>A c.(367-369)agG>agA p.R123R NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 123 Ig-like C2-type 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TTGTCAGCAGGGAGGCCATCC 0.627000 15 23 0 0 0.000422831 0 0 XIRP2 129446 broad.mit.edu 37 2 168100889 168100889 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:168100889G>A ENST00000409195.1 + 9 3076 c.2987G>A c.(2986-2988)gGa>gAa p.G996E XIRP2_ENST00000409273.1_Missense_Mutation_p.G774E|XIRP2_ENST00000295237.9_Missense_Mutation_p.G996E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 821 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATCCCCTTGGAAAATATCAT 0.403000 22 30 0 0 0.000586117 0 0 VWA3B 200403 broad.mit.edu 37 2 98804458 98804458 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:98804458C>T ENST00000477737.1 + 10 1536 c.1332C>T c.(1330-1332)gtC>gtT p.V444V VWA3B_ENST00000435344.1_Silent_p.V444V|VWA3B_ENST00000451075.2_Silent_p.V294V NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 444 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AGAAGACAGTCCATGCAAAAT 0.483000 26 23 0 0 0.000586117 0 0 GTF3C1 2975 broad.mit.edu 37 16 27503770 27503770 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:27503770G>A ENST00000356183.4 - 19 3055 c.3040C>T c.(3040-3042)Ctg>Ttg p.L1014L GTF3C1_ENST00000561623.1_Silent_p.L1014L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1014 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CTGCGGGCCAGGTTGTAATGT 0.522000 22 70 0 0 0.000720815 0 0 CRTC1 23373 broad.mit.edu 37 19 18870915 18870915 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:18870915C>T ENST00000338797.6 + 9 836 c.811C>T c.(811-813)Ccc>Tcc p.P271S CRTC1_ENST00000321949.8_Missense_Mutation_p.P255S|CRTC1_ENST00000601916.1_Missense_Mutation_p.P180S|CRTC1_ENST00000594658.1_Missense_Mutation_p.P214S NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 255 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 CATCCACTTCCCCTCCCCGCT 0.672000 20 4 0 0 0.00188189 0 0 EHMT2 10919 broad.mit.edu 37 6 31852227 31852227 + Missense_Mutation SNP G G T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:31852227G>T ENST00000395728.3 - 20 2883 c.2884C>A c.(2884-2886)Cgc>Agc p.R962S EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.R928S|EHMT2_ENST00000375530.4_Missense_Mutation_p.R871S|EHMT2_ENST00000375537.4_Missense_Mutation_p.R905S Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 905 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 CGGAGCTTGCGGTTGAGTTGA 0.632000 7 199 0.00198382 0.00873923 0.00198382 1 0 KCNQ4 9132 broad.mit.edu 37 1 41283874 41283874 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:41283874C>T ENST00000347132.5 + 3 526 c.444C>T c.(442-444)atC>atT p.I148I KCNQ4_ENST00000509682.2_Silent_p.I148I NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 148 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TGGAGTACATCGTCCGGGTCT 0.607000 25 56 0 0 0.000720815 0 0 LRP1B 53353 broad.mit.edu 37 2 141739790 141739790 + Silent SNP T T C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:141739790T>C ENST00000389484.3 - 18 3797 c.2826A>G c.(2824-2826)agA>agG p.R942R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 942 LDL-receptor class A 5. 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) ACAGCCATGCTCTGGGAATGC 0.418000 TSP Lung(27;0.18) 7 62 0 0 0.000274275 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110453035 110453035 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:110453035G>A ENST00000378402.5 + 33 4157 c.4053G>A c.(4051-4053)agG>agA p.R1351R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1351 IPT/TIG 7. 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) TCACCATAAGGGGTTTTGGAT 0.378000 HNSCC(38;0.096) 61 121 0 0 0.000781405 0 0 OR5F1 338674 broad.mit.edu 37 11 55761613 55761613 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:55761613G>A ENST00000278409.1 - 1 488 c.489C>T c.(487-489)gtC>gtT p.V163V NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) ACAAGCTGCTGACATGGCTTG 0.473000 34 49 0 0 0.000692331 0 0 SNUPN 10073 broad.mit.edu 37 15 75902304 75902304 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:75902304G>A ENST00000564644.1 - 5 913 c.335C>T c.(334-336)cCt>cTt p.P112L SNUPN_ENST00000567134.1_Missense_Mutation_p.P112L|SNUPN_ENST00000308588.5_Missense_Mutation_p.P112L|SNUPN_ENST00000564675.1_Missense_Mutation_p.P112L|SNUPN_ENST00000371091.5_Missense_Mutation_p.P154L O95149 SPN1_HUMAN snurportin 1 112 Necessary for interaction with XPO1. ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore protein transporter activity|RNA cap binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1) 8 CAAATCTGAAGGAACGTCAAT 0.493000 20 25 0 0 0.00188189 0 0 C1orf168 199920 broad.mit.edu 37 1 57257776 57257776 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:57257776C>T ENST00000343433.6 - 2 790 c.710G>A c.(709-711)aGc>aAc p.S237N C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 237 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CTGGCAGGGGCTGCTTGCCGG 0.498000 35 61 0 0 0.00283554 0 0 PRSS1 5644 broad.mit.edu 37 7 142459661 142459661 + Missense_Mutation SNP A A C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:142459661A>C ENST00000486171.1 + 4 296 c.279A>C c.(277-279)gaA>gaC p.E93D PRSS1_ENST00000311737.7_Missense_Mutation_p.E79D P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 79 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) ACAACATCGAAGTCCTGGAGG 0.547000 7 115 0 0 0.00198382 0 0 BSN 8927 broad.mit.edu 37 3 49689299 49689299 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:49689299C>T ENST00000296452.4 + 5 2424 c.2310C>T c.(2308-2310)gcC>gcT p.A770A NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 770 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) CGCCTGAGGCCTTTGACTCTG 0.632000 13 7 0 0 0.00185496 0 0 PRAME 23532 broad.mit.edu 37 22 22890990 22890990 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:22890990G>A ENST00000543184.1 - 5 1891 c.1029C>T c.(1027-1029)tcC>tcT p.S343S PRAME_ENST00000398741.1_Silent_p.S343S|PRAME_ENST00000398743.2_Silent_p.S343S|PRAME_ENST00000405655.3_Silent_p.S343S|PRAME_ENST00000402697.1_Silent_p.S343S|PRAME_ENST00000539862.1_Silent_p.S327S|PRAME_ENST00000424204.2_Silent_p.S327S NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 343 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TGGGACTCTGGGACAGATGCA 0.537000 48 82 0 0 0.000781405 0 0 OTOGL 283310 broad.mit.edu 37 12 80707373 80707373 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:80707373G>A ENST00000458043.2 + 30 3547 c.3541G>A c.(3541-3543)Gaa>Aaa p.E1181K OTOGL_ENST00000547103.1_Missense_Mutation_p.E1181K NM_173591.3 NP_775862.3 otogelin-like p.E1181*(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GTGTTGTCAGGAAGGAATATC 0.358000 36 39 0 0 0.00285205 0 0 EML5 161436 broad.mit.edu 37 14 89094155 89094155 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:89094155G>A ENST00000554922.1 - 34 4614 c.4366C>T c.(4366-4368)Cct>Tct p.P1456S EML5_ENST00000380664.5_Missense_Mutation_p.P1448S|EML5_ENST00000352093.5_Missense_Mutation_p.P1410S NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1448 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TGAATAGAAGGAGCTGTAGCT 0.358000 4 3 0 0 0.000602214 0 0 MURC 347273 broad.mit.edu 37 9 103340465 103340465 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:103340465C>T ENST00000307584.5 + 1 105 c.40C>T c.(40-42)Cac>Tac p.H14Y NM_001018116.1 NP_001018126.1 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 14 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) TGATAAAATCCACCAGAATCG 0.433000 22 11 0 0 0.00047179 0 0 DSG3 1830 broad.mit.edu 37 18 29041205 29041205 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:29041205G>A ENST00000257189.4 + 8 912 c.829G>A c.(829-831)Gaa>Aaa p.E277K NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 277 Cadherin 3. 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) AGCACGTATTGAAGAAAATAT 0.328000 7 16 0 0 0.00198382 0 0 PTPRT 11122 broad.mit.edu 37 20 40980844 40980844 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:40980844C>T ENST00000373198.3 - 10 1877 c.1642G>A c.(1642-1644)Gaa>Aaa p.E548K PTPRT_ENST00000373193.3_Missense_Mutation_p.E548K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E548K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E548K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E548K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E548K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E548K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 548 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGTGGGTTTCATTCCGGAGC 0.572000 32 58 0 0 0.00283554 0 0 ALPK2 115701 broad.mit.edu 37 18 56184326 56184326 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:56184326G>A ENST00000361673.3 - 9 5967 c.5754C>T c.(5752-5754)atC>atT p.I1918I NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1918 Alpha-type protein kinase. 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 CCTCCGTGGCGATCTGACCAC 0.547000 23 21 0 0 0.00278032 0 0 APEH 327 broad.mit.edu 37 3 49713332 49713332 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:49713332G>A ENST00000296456.5 + 5 775 c.375G>A c.(373-375)gaG>gaA p.E125E APEH_ENST00000438011.1_Silent_p.E125E NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 125 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGGTCTGGGAGAAGAACCGGA 0.567000 10 15 0 0 0.000442599 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221258 140221258 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:140221258C>T ENST00000531613.1 + 1 352 c.352C>T c.(352-354)Cat>Tat p.H118Y PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.H118Y|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGGTTTTCCATGTGGACGT 0.557000 61 38 0 0 0.000781405 0 0 NPSR1 387129 broad.mit.edu 37 7 34851465 34851465 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:34851465C>T ENST00000360581.1 + 4 596 c.468C>T c.(466-468)ttC>ttT p.F156F NPSR1_ENST00000359791.1_Silent_p.F156F|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Silent_p.F156F|NPSR1_ENST00000531252.1_Silent_p.F145F NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 156 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CCATGAAGTTCCTTCAAGGAG 0.443000 44 58 0 0 0.000781405 0 0 GLRB 2743 broad.mit.edu 37 4 158073936 158073936 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:158073936C>T ENST00000264428.4 + 9 1241 c.971C>T c.(970-972)tCc>tTc p.S324F GLRB_ENST00000541722.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.S324F|GLRB_ENST00000512619.1_Intron NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 324 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CCCAAAGTTTCCTATGTGAAG 0.483000 39 62 0 0 0.00128727 0 0 SLC25A29 123096 broad.mit.edu 37 14 100758856 100758856 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:100758856G>A ENST00000554912.1 - 2 3765 c.478C>T c.(478-480)Ccg>Tcg p.P160S SLC25A29_ENST00000359232.3_Missense_Mutation_p.P226S|SLC25A29_ENST00000539621.1_Missense_Mutation_p.P160S|SLC25A29_ENST00000555927.1_Missense_Mutation_p.P160S|SLC25A29_ENST00000392908.3_3'UTR|SLC25A29_ENST00000556505.1_Missense_Mutation_p.P160S|RP11-638I2.6_ENST00000556458.1_lincRNA Q8N8R3 MCATL_HUMAN solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29 226 integral to membrane|mitochondrial inner membrane binding NS(1)|endometrium(1)|ovary(1) 3 Melanoma(154;0.152) L-Carnitine(DB00583) CGGTAGCGCGGGGCGCCCCGC 0.706000 5 4 0 0 0.00116845 0 0 FLG 2312 broad.mit.edu 37 1 152282710 152282710 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152282710C>T ENST00000368799.1 - 3 4687 c.4652G>A c.(4651-4653)gGa>gAa p.G1551E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1551 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) GGAGCCGTCTCCTGATTGTTC 0.597000 Ichthyosis 56 155 0 0 0.000781405 0 0 KIAA1257 57501 broad.mit.edu 37 3 128695841 128695841 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:128695841C>T ENST00000265068.5 - 6 1044 c.877G>A c.(877-879)Gac>Aac p.D293N KIAA1257_ENST00000511438.1_Missense_Mutation_p.D293N|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D181N NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 293 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 GAAGAATCGTCCATTTTGAGG 0.438000 13 26 0 0 0.00244969 0 0 ANO2 57101 broad.mit.edu 37 12 6030386 6030386 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:6030386G>A ENST00000546188.1 - 3 413 c.342C>T c.(340-342)ttC>ttT p.F114F ANO2_ENST00000356134.5_Silent_p.F114F|ANO2_ENST00000327087.8_Silent_p.F114F Q9NQ90 ANO2_HUMAN anoctamin 2 118 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 AGTGGCCAGGGAAGCCTTGGG 0.617000 9 23 0 0 0.000442599 0 0 ZNF676 163223 broad.mit.edu 37 19 22363024 22363024 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:22363024G>A ENST00000397121.2 - 3 1812 c.1495C>T c.(1495-1497)Cat>Tat p.H499Y NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 499 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) TCTCCAGTATGAATTATCTTA 0.383000 15 13 0 0 0.00244969 0 0 BEST3 144453 broad.mit.edu 37 12 70049039 70049039 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:70049039G>A ENST00000330891.5 - 10 1881 c.1655C>T c.(1654-1656)cCc>cTc p.P552L BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.P446L|BEST3_ENST00000488961.1_Missense_Mutation_p.P339L NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 552 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) CTTCTCTGAGGGAGACAGGAT 0.547000 33 100 0 0 0.00283554 0 0 POM121L12 285877 broad.mit.edu 37 7 53104225 53104225 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:53104225C>T ENST00000408890.4 + 1 877 c.861C>T c.(859-861)gtC>gtT p.V287V NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 287 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCTCGAGGTCACCCAGTCTG 0.622000 15 30 0 0 0.00074312 0 0 MGP 4256 broad.mit.edu 37 12 15035095 15035095 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:15035095C>T ENST00000539261.1 - 4 424 c.290G>A c.(289-291)aGg>aAg p.R97K C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Missense_Mutation_p.R122K NM_000900.3 NP_000891.2 P08493 MGP_HUMAN matrix Gla protein 97 Gla. cartilage condensation|cell differentiation|ossification|regulation of bone mineralization proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent|structural constituent of bone large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 7 TCGGCGCTTCCTGAAGTAGCG 0.478000 71 88 0 0 0.000781405 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529171 5529171 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:5529171G>A ENST00000311659.4 - 2 1765 c.1618C>T c.(1618-1620)Cgc>Tgc p.R540C HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 540 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTAGGAGGCGAGGTGCTTCA 0.577000 12 26 0 0 0.00136819 0 0 EGF 1950 broad.mit.edu 37 4 110925678 110925678 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:110925678C>T ENST00000265171.5 + 22 3636 c.3191C>T c.(3190-3192)tCg>tTg p.S1064L EGF_ENST00000509793.1_Missense_Mutation_p.S1022L|EGF_ENST00000503392.1_Missense_Mutation_p.S1023L NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 1064 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AAGCTGCTATCGAAAAACCCA 0.468000 50 81 0 0 0.000781405 0 0 XKR6 286046 broad.mit.edu 37 8 10756103 10756103 + Missense_Mutation SNP A A G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:10756103A>G ENST00000416569.2 - 3 1311 c.1285T>C c.(1285-1287)Tgc>Cgc p.C429R XKR6_ENST00000304437.2_Missense_Mutation_p.C150R NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 429 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) TTAAACCAGCAGAAAATGTAC 0.478000 14 19 0 0 0.00185496 0 0 EFCAB6 64800 broad.mit.edu 37 22 44112819 44112819 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:44112819G>A ENST00000262726.7 - 9 1044 c.791C>T c.(790-792)tCc>tTc p.S264F EFCAB6_ENST00000356087.4_Missense_Mutation_p.S158F|EFCAB6_ENST00000358439.4_Missense_Mutation_p.S158F|EFCAB6_ENST00000396231.2_Missense_Mutation_p.S112F NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 264 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) TTCCTTTTTGGAATTTTTGGC 0.353000 18 48 0 0 0.000566183 0 0 HTR2C 3358 broad.mit.edu 37 X 114141186 114141186 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:114141186G>A ENST00000371950.3 + 6 1214 c.490G>A c.(490-492)Gga>Aga p.G164R HTR2C_ENST00000371951.1_Silent_p.R195R|HTR2C_ENST00000276198.1_Silent_p.R195R NM_001256761.1 NP_001243690.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 0 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 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) TTGGACTGAGGGACGAAGAAA 0.458000 54 18 0 0 0.000781405 0 0 DIDO1 11083 broad.mit.edu 37 20 61511288 61511288 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:61511288G>A ENST00000266070.4 - 16 6345 c.6020C>T c.(6019-6021)tCg>tTg p.S2007L DIDO1_ENST00000395343.1_Missense_Mutation_p.S2007L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2007 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GTGAAATCGCGAAGGGGTCTG 0.632000 36 67 0 0 0.000953801 0 0 THPO 7066 broad.mit.edu 37 3 184091239 184091239 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:184091239G>A ENST00000204615.7 - 5 574 c.360C>T c.(358-360)ctC>ctT p.L120L THPO_ENST00000421442.2_Silent_p.L120L|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Silent_p.L120L NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 120 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCCCAAGGAGGAGACGGACCT 0.587000 7 32 0 0 0.000274275 0 0 LDHC 3948 broad.mit.edu 37 11 18460142 18460142 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:18460142G>A ENST00000541669.1 + 6 771 c.660G>A c.(658-660)acG>acA p.T220T LDHC_ENST00000537486.1_Intron|LDHC_ENST00000546146.1_Silent_p.T162T|LDHC_ENST00000544105.1_Silent_p.T220T|LDHC_ENST00000536880.1_Silent_p.T206T|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000280704.4_Silent_p.T220T P07864 LDHC_HUMAN lactate dehydrogenase C 220 glycolysis cytoplasm binding|L-lactate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) AATTAGGAACGGATTCAGATA 0.358000 11 26 0 0 0.000673444 0 0 ADAP2 55803 broad.mit.edu 37 17 29272027 29272027 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:29272027G>A ENST00000330889.3 + 6 948 c.613G>A c.(613-615)Gat>Aat p.D205N ADAP2_ENST00000580525.1_Missense_Mutation_p.D211N NM_018404.2 NP_060874.1 Q9NPF8 ADAP2_HUMAN ArfGAP with dual PH domains 2 205 PH 1. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CTACAGGAGAGATGGCCACAC 0.547000 15 11 0 0 0.000422831 0 0 HGF 3082 broad.mit.edu 37 7 81381514 81381514 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:81381514C>T ENST00000222390.5 - 5 773 c.547G>A c.(547-549)Gaa>Aaa p.E183K HGF_ENST00000453411.1_Missense_Mutation_p.E178K|HGF_ENST00000444829.2_Missense_Mutation_p.E183K|HGF_ENST00000457544.2_Missense_Mutation_p.E178K|HGF_ENST00000423064.2_Missense_Mutation_p.E183K NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 183 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CCCCCTTCTTCCCCTCGAGGA 0.438000 15 49 0 0 0.000566183 0 0 SLC35B1 10237 broad.mit.edu 37 17 47785270 47785270 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:47785270C>T ENST00000415270.2 - 1 43 c.37G>A c.(37-39)Gag>Aag p.E13K SLC35B1_ENST00000240333.6_5'UTR NM_005827.1 NP_005818.1 P78383 S35B1_HUMAN solute carrier family 35, member B1 0 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 GGCGACAGCTCCAGCCGGACA 0.697000 OREG0024545 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 2 0 0 0.00116845 0 0 KRT71 112802 broad.mit.edu 37 12 52946563 52946563 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:52946563C>T ENST00000267119.5 - 1 368 c.299G>A c.(298-300)gGa>gAa p.G100E NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 100 Gly-rich.|Head. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GTGGATGCCTCCAGGTGGGCA 0.637000 20 14 0 0 0.00121646 0 0 IGDCC4 57722 broad.mit.edu 37 15 65687481 65687481 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:65687481C>T ENST00000352385.2 - 8 1736 c.1527G>A c.(1525-1527)ctG>ctA p.L509L NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 509 Fibronectin type-III 1. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GGCTGGCTCCCAGCTGGGAGT 0.557000 8 23 0 0 0.000274275 0 0 CACNA1I 8911 broad.mit.edu 37 22 40078628 40078628 + Missense_Mutation SNP A A G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:40078628A>G ENST00000336649.4 + 38 5810 c.5810A>G c.(5809-5811)aAc>aGc p.N1937S CACNA1I_ENST00000402142.3_Missense_Mutation_p.N1931S|CACNA1I_ENST00000404898.1_Missense_Mutation_p.N1896S|CACNA1I_ENST00000400164.3_Missense_Mutation_p.N1896S|CACNA1I_ENST00000401624.1_Missense_Mutation_p.N1931S|CACNA1I_ENST00000407673.1_Missense_Mutation_p.N1896S Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1931 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) ATCCCATTCAACCCTGTCCGG 0.602000 6 16 0 0 0.00116845 0 0 RELN 5649 broad.mit.edu 37 7 103124250 103124250 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:103124250C>T ENST00000428762.1 - 62 10190 c.10031G>A c.(10030-10032)aGc>aAc p.S3344N RELN_ENST00000424685.2_Missense_Mutation_p.S3344N|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000343529.5_Missense_Mutation_p.S3344N NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3344 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) ACTGTTGCAGCTGTCCGTCTG 0.463000 32 51 0 0 0.00058488 0 0 IGHV3-13 28449 broad.mit.edu 37 14 106586352 106586352 + RNA SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:106586352C>T ENST00000390602.2 - 0 212 AAGGTGAATCCAGAGGCTGCA 0.567000 5 51 0 0 0.00116845 0 0 CALCRL 10203 broad.mit.edu 37 2 188216985 188216985 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:188216985G>A ENST00000409998.1 - 14 1765 c.984C>T c.(982-984)tcC>tcT p.S328S AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Silent_p.S328S|CALCRL_ENST00000410068.1_Silent_p.S328S Q16602 CALRL_HUMAN calcitonin receptor-like 328 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TGTACAGATTGGATTCCGCTT 0.393000 14 31 0 0 0.000422831 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111697979 111697979 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:111697979C>T ENST00000340433.2 + 1 253 c.23C>T c.(22-24)tCa>tTa p.S8L NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 8 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 ACGAAATCATCATCTACCATG 0.468000 43 10 0 0 0.000781405 0 0 DHRS12 79758 broad.mit.edu 37 13 52364186 52364186 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:52364186C>T ENST00000218981.1 - 4 373 c.262G>A c.(262-264)Gaa>Aaa p.E88K DHRS12_ENST00000280056.2_Missense_Mutation_p.E88K|DHRS12_ENST00000444610.2_Missense_Mutation_p.E137K|DHRS12_ENST00000490949.1_5'UTR NM_024705.2 NP_078981.1 A0PJE2 DHR12_HUMAN dehydrogenase/reductase (SDR family) member 12 137 binding|oxidoreductase activity cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 7 Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.81e-08) AGTCCATCTTCTGTGAGCTCT 0.308000 31 63 0 0 0.000953801 0 0 CSMD2 114784 broad.mit.edu 37 1 34090134 34090134 + Silent SNP T T C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:34090134T>C ENST00000373381.4 - 35 5786 c.5610A>G c.(5608-5610)gaA>gaG p.E1870E CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.E743E NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1830 CUB 11. 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) TGCCAGCGCCTTCGGGGACCA 0.647000 23 28 0 0 0.000586117 0 0 PAX1 5075 broad.mit.edu 37 20 21687290 21687290 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:21687290G>A ENST00000398485.2 + 2 555 c.501G>A c.(499-501)ggG>ggA p.G167G PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.G143G NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 167 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CCATCGGGGGGAGCAAGCCCC 0.652000 22 19 0 0 0.00152264 0 0 ALDH2 217 broad.mit.edu 37 12 112219760 112219760 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:112219760G>A ENST00000546840.2 + 3 143 c.143G>A c.(142-144)gGa>gAa p.G48E ALDH2_ENST00000261733.2_Silent_p.R51R|ALDH2_ENST00000416293.3_Silent_p.R51R CCGTCAGCAGGAAAACATTCC 0.483000 37 15 0 0 0.00222228 0 0 AGAP1 116987 broad.mit.edu 37 2 237028968 237028968 + Silent SNP C C A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:237028968C>A ENST00000409538.1 + 16 3379 c.2883C>A c.(2881-2883)atC>atA p.I961I AGAP1_ENST00000336665.5_Silent_p.I696I|AGAP1_ENST00000304032.7_Silent_p.I749I|AGAP1_ENST00000428334.2_Silent_p.I588I Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 749 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GGACGGCCATCCTGCTGCTGG 0.716000 21 23 1.64293e-13 7.33905e-13 0.00047179 1 0 TXNDC2 84203 broad.mit.edu 37 18 9887635 9887635 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:9887635G>A ENST00000306084.6 + 2 1358 c.1159G>A c.(1159-1161)Ggt>Agt p.G387S TXNDC2_ENST00000357775.4_Missense_Mutation_p.G320S|TXNDC2_ENST00000536353.2_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 387 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GCCCAAGGAGGGTGACATTCC 0.567000 18 32 0 0 0.00152264 0 0 HNF1B 6928 broad.mit.edu 37 17 36047354 36047354 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:36047354G>A ENST00000560016.1 - 8 1709 c.1576C>T c.(1576-1578)Cgt>Tgt p.R526C HNF1B_ENST00000427275.2_Missense_Mutation_p.R435C|HNF1B_ENST00000225893.4_3'UTR|HNF1B_ENST00000561193.1_3'UTR P35680 HNF1B_HUMAN HNF1 homeobox B 0 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TGTTGCGCACGAAGTAAGTGG 0.572000 110 90 0 0 0.000781405 0 0 PAPPA2 60676 broad.mit.edu 37 1 176671742 176671742 + Splice_Site SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:176671742G>A ENST00000367662.3 + 9 4400 c.e9-1 NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 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 GGTTTCCACAGGGAGGTCACA 0.498000 13 28 0 0 0.00136819 0 0 CRNN 49860 broad.mit.edu 37 1 152382122 152382122 + Missense_Mutation SNP C C T rs138795800 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152382122C>T ENST00000271835.3 - 3 1498 c.1436G>A c.(1435-1437)cGa>cAa p.R479Q RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 479 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGATGCCTCGCTTCTCTTC 0.542000 22 52 0 0 0.00229938 0 0 STRN3 29966 broad.mit.edu 37 14 31424860 31424860 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:31424860G>A ENST00000355683.5 - 3 641 c.426C>T c.(424-426)aaC>aaT p.N142N STRN3_ENST00000357479.5_Silent_p.N142N NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 142 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 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;0.0124) AGTCACCTTGGTTCAGTTCCG 0.303000 18 17 0 0 0.00229938 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48212944 48212944 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:48212944C>T ENST00000316878.6 - 11 2370 c.2368G>A c.(2368-2370)Gag>Aag p.E790K PPP1R9B_ENST00000501501.2_5'UTR NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 790 Interacts with TGN38 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 TCCATCTCCTCCTTTCTGGCC 0.632000 10 3 0 0 0.000673444 0 0 LLGL2 3993 broad.mit.edu 37 17 73567847 73567847 + Missense_Mutation SNP C C T rs150971482 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:73567847C>T ENST00000392550.3 + 18 2393 c.2276C>T c.(2275-2277)cCt>cTt p.P759L LLGL2_ENST00000577200.1_Missense_Mutation_p.P759L|LLGL2_ENST00000167462.5_Missense_Mutation_p.P759L NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 759 P -> S (in dbSNP:rs1661715). 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) ATGGATGAGCCTGTGCGGGCA 0.701000 14 20 0 0 0.000422831 0 0 SDK1 221935 broad.mit.edu 37 7 4152925 4152925 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:4152925C>T ENST00000404826.2 + 24 3578 c.3439C>T c.(3439-3441)Cga>Tga p.R1147* SDK1_ENST00000389531.3_Nonsense_Mutation_p.R1147* NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1147 Fibronectin type-III 5. cell adhesion integral to membrane p.R1147*(1) 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) CTTTAGATTTCGAATGAAGCA 0.537000 76 153 0 0 0.000781405 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325450 150325450 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:150325450G>A ENST00000328902.5 - 3 452 c.236C>T c.(235-237)tCc>tTc p.S79F GIMAP6_ENST00000493969.1_Intron NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 79 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCGTCTCTGGGAGGTCTTGGT 0.582000 49 56 0 0 0.000781405 0 0 EVPL 2125 broad.mit.edu 37 17 74006472 74006472 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:74006472C>T ENST00000301607.3 - 22 3067 c.2814G>A c.(2812-2814)caG>caA p.Q938Q EVPL_ENST00000586740.1_Silent_p.Q960Q NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 938 Central fibrous rod domain. 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 GTTGGCTCCTCTGCGCCTCCA 0.662000 27 23 0 0 0.001512 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20896269 20896269 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:20896269C>T ENST00000381552.1 + 13 2132 c.1764C>T c.(1762-1764)gcC>gcT p.A588A SLCO1C1_ENST00000540354.1_Silent_p.A539A|SLCO1C1_ENST00000545604.1_Silent_p.A588A|SLCO1C1_ENST00000266509.2_Silent_p.A588A|SLCO1C1_ENST00000545102.1_Silent_p.A470A Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 588 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AGTCTTTTGCCTTGGGTATCT 0.308000 71 140 0 0 0.000781405 0 0 FNIP1 96459 broad.mit.edu 37 5 131066709 131066709 + Missense_Mutation SNP A A C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:131066709A>C ENST00000307968.7 - 3 241 c.242T>G c.(241-243)gTt>gGt p.V81G FNIP1_ENST00000307954.8_Intron|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.V81G|FNIP1_ENST00000511848.1_Missense_Mutation_p.V81G NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) AAAGACTTTAACTTGAGCATC 0.348000 38 13 0 0 0.0025221 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142479932 142479932 + RNA SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:142479932G>A ENST00000603901.1 + 0 64 NR_001296.3 TGATGATGATGACAAGATCGT 0.552000 12 134 0 0 0.000308642 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841502 8841502 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:8841502G>A ENST00000324060.2 + 1 187 c.112G>A c.(112-114)Ggc>Agc p.G38S NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTTTGTCATAGGCCTTCTGGG 0.547000 24 14 0 0 0.000586117 0 0 RALYL 138046 broad.mit.edu 37 8 85774565 85774565 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:85774565C>T ENST00000521268.1 + 6 1553 c.448C>T c.(448-450)Ccc>Tcc p.P150S RALYL_ENST00000518566.1_Missense_Mutation_p.P139S|RALYL_ENST00000517638.1_Missense_Mutation_p.P163S|RALYL_ENST00000523850.1_Missense_Mutation_p.P77S|RALYL_ENST00000521695.1_Missense_Mutation_p.P150S|RALYL_ENST00000522455.1_Missense_Mutation_p.P150S|RALYL_ENST00000521376.1_Missense_Mutation_p.P61S NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 150 identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 GCCTCCACCTCCCCGTGCAGT 0.493000 4 13 0 0 0.00024832 0 0 TTN 7273 broad.mit.edu 37 2 179553407 179553407 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179553407C>T ENST00000589042.1 - 126 32418 c.32194G>A c.(32194-32196)Gaa>Aaa p.E10732K TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10415K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9488K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10415 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) TATATACCTTCGTGCCGCGTG 0.398000 17 56 0 0 0.000566183 0 0 RSU1 6251 broad.mit.edu 37 10 16794967 16794967 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:16794967C>T ENST00000377921.3 - 5 734 c.433G>A c.(433-435)Gat>Aat p.D145N RSU1_ENST00000345264.5_Missense_Mutation_p.D145N|RSU1_ENST00000602389.1_Missense_Mutation_p.D92N|RSU1_ENST00000464074.2_5'UTR Q15404 RSU1_HUMAN Ras suppressor protein 1 145 cell junction assembly|signal transduction cytosol protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(1;7.54e-08) ATTTCAAAATCGTTGTCACTT 0.398000 20 12 0 0 0.00278032 0 0 SCN1A 6323 broad.mit.edu 37 2 166895947 166895947 + Missense_Mutation SNP G G A rs121918784 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:166895947G>A ENST00000423058.2 - 14 2592 c.2575C>T c.(2575-2577)Cgt>Tgt p.R859C SCN1A_ENST00000303395.4_Missense_Mutation_p.R859C|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R848C|SCN1A_ENST00000409050.1_Missense_Mutation_p.R831C|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 859 R -> C (in GEFS+2; causes a positive shift in the voltage dependence of channel activation, slower recovery from slow inactivation and lower levels of current compared with the wild-type channel; dbSNP:rs121918784). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CGAAATGAACGGAGAACAGAT 0.363000 12 27 0 0 0.00244969 0 0 PKP3 11187 broad.mit.edu 37 11 396967 396967 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:396967C>T ENST00000331563.2 + 3 542 c.466C>T c.(466-468)Ccc>Tcc p.P156S PKP3_ENST00000530695.1_3'UTR NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 156 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) GCCCACCCCTCCCATGCCCAC 0.716000 4 11 0 0 0.00024832 0 0 GCN1L1 10985 broad.mit.edu 37 12 120578761 120578761 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:120578761G>A ENST00000300648.6 - 45 5908 c.5896C>T c.(5896-5898)Ccc>Tcc p.P1966S NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1966 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) TCAAGGATGGGGATGATCTCG 0.532000 78 22 0 0 0.000781405 0 0 OR2V2 285659 broad.mit.edu 37 5 180582587 180582587 + Silent SNP C C T rs146384535 byFrequency TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:180582587C>T ENST00000328275.1 + 1 645 c.645C>T c.(643-645)atC>atT p.I215I NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTCCATCATCGTGGCCTCCT 0.522000 92 46 0 0 0.000781405 0 0 GABPB1 2553 broad.mit.edu 37 15 50570924 50570924 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:50570924G>A ENST00000380877.3 - 9 1480 c.1057C>T c.(1057-1059)Cga>Tga p.R353* GABPB1_ENST00000543881.1_Nonsense_Mutation_p.R289*|GABPB1_ENST00000220429.8_Nonsense_Mutation_p.R365* NM_005254.5|NM_016654.4 NP_005245.2|NP_057738.1 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta subunit 1 365 positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding cervix(1)|endometrium(1)|large_intestine(7)|lung(5) 14 AGCTGCTGTCGATATTTTTGT 0.368000 40 77 0 0 0.00170553 0 0 DOT1L 84444 broad.mit.edu 37 19 2220136 2220136 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:2220136C>T ENST00000398665.3 + 23 2757 c.2721C>T c.(2719-2721)ccC>ccT p.P907P NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 907 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) TGCTGCAGCCCCGTGACCCCT 0.637000 12 11 0 0 0.00074312 0 0 GSG1 83445 broad.mit.edu 37 12 13240852 13240852 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:13240852G>A ENST00000337630.6 - 4 582 c.515C>T c.(514-516)tCt>tTt p.S172F GSG1_ENST00000537302.1_Intron|GSG1_ENST00000324458.8_Missense_Mutation_p.S208F|GSG1_ENST00000396302.3_Silent_p.L213L|GSG1_ENST00000351606.6_Silent_p.L249L|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000432710.2_Missense_Mutation_p.S185F NM_153823.3 NP_722545.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 195 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) TGACAGGACAGAGGAAACAGC 0.557000 10 24 0 0 0.000442599 0 0 PLIN4 729359 broad.mit.edu 37 19 4516655 4516655 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:4516655C>T ENST00000301286.3 - 2 186 c.187G>A c.(187-189)Gag>Aag p.E63K NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 63 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 AGCTCCTTCTCCGTCCATGGG 0.637000 7 3 0 0 0.000442599 0 0 ARL10 285598 broad.mit.edu 37 5 175793397 175793397 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:175793397G>A ENST00000310389.5 + 2 294 c.198G>A c.(196-198)gaG>gaA p.E66E NM_173664.4 NP_775935.1 Q8N8L6 ARL10_HUMAN ADP-ribosylation factor-like 10 66 GTP binding endometrium(2)|lung(1)|ovary(1) 4 all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) 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;0.000178) Kidney(146;0.0965) AGGACGAGGAGGACGAGGAGC 0.692000 7 3 0 0 0.000157383 0 0 TRIM55 84675 broad.mit.edu 37 8 67064740 67064740 + Missense_Mutation SNP A A T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:67064740A>T ENST00000315962.4 + 8 1487 c.1114A>T c.(1114-1116)Aac>Tac p.N372Y TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.N372Y|TRIM55_ENST00000353317.5_Missense_Mutation_p.N372Y NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 372 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) AGAAGATGAAAACCCAGAAAA 0.527000 33 41 0 0 0.000953801 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195625 18195625 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 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 33 52 0 0 0.000814825 0 0 DYSF 8291 broad.mit.edu 37 2 71743372 71743372 + Splice_Site SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:71743372G>A ENST00000258104.3 + 8 1132 c.855_splice c.e8+1 p.T285_splice DYSF_ENST00000429174.2_Splice_Site_p.T285_splice|DYSF_ENST00000394120.2_Splice_Site_p.T286_splice|DYSF_ENST00000409582.3_Splice_Site_p.T316_splice|DYSF_ENST00000410041.1_Splice_Site_p.T317_splice|DYSF_ENST00000409744.1_Splice_Site_p.T286_splice|DYSF_ENST00000410020.3_Splice_Site_p.T317_splice|DYSF_ENST00000409762.1_Splice_Site_p.T316_splice|DYSF_ENST00000409651.1_Splice_Site_p.T317_splice|DYSF_ENST00000409366.1_Splice_Site_p.T286_splice|DYSF_ENST00000413539.2_Splice_Site_p.T316_splice NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 285 C2 2. 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 TCTTTATCACGGTATGTCTCA 0.488000 8 11 0 0 0.000274275 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205768 36205768 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:36205768G>A ENST00000392197.2 + 3 558 c.240G>A c.(238-240)ggG>ggA p.G80G ZBTB32_ENST00000262630.3_Silent_p.G80G Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 80 BTB. DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TTGTGTATGGGGAGAGTGTAG 0.632000 22 62 0 0 0.000720815 0 0 NLRP7 199713 broad.mit.edu 37 19 55451105 55451105 + Missense_Mutation SNP G G A rs143169084 byFrequency TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:55451105G>A ENST00000446217.1 - 6 1568 c.1166C>T c.(1165-1167)tCg>tTg p.S389L NLRP7_ENST00000340844.2_Missense_Mutation_p.S361L|NLRP7_ENST00000328092.5_Missense_Mutation_p.S361L|NLRP7_ENST00000448121.2_Missense_Mutation_p.S361L|NLRP7_ENST00000592784.1_Missense_Mutation_p.S361L|NLRP7_ENST00000590030.1_Missense_Mutation_p.S361L|NLRP7_ENST00000588756.1_Missense_Mutation_p.S361L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 361 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CGCGGGGGCCGAGCCCAGCTG 0.632000 18 27 0 0 0.00229938 0 0 ABCA2 20 broad.mit.edu 37 9 139906452 139906452 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:139906452G>A ENST00000265662.5 - 35 5526 c.5379C>T c.(5377-5379)gtC>gtT p.V1793V ABCA2_ENST00000341511.6_Silent_p.V1793V|ABCA2_ENST00000371605.3_Silent_p.V1792V Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1792 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TGGCGATGACGACATCCGTGC 0.637000 23 6 0 0 0.000720815 0 0 AFP 174 broad.mit.edu 37 4 74302028 74302028 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:74302028G>A ENST00000395792.2 + 1 149 c.49G>A c.(49-51)Gaa>Aaa p.E17K AFP_ENST00000226359.2_Missense_Mutation_p.E17K NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 17 transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAATTTTACTGAATCCAGAAC 0.284000 Alpha-Fetoprotein, Hereditary Persistence of 21 30 0 0 0.000878237 0 0 LILRA1 11024 broad.mit.edu 37 19 55107841 55107841 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:55107841C>T ENST00000251372.3 + 7 1328 c.1146C>T c.(1144-1146)ttC>ttT p.F382F LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 382 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) AGGCTGAATTCCCTATGAGTC 0.587000 35 74 0 0 0.00128727 0 0 PGM2L1 283209 broad.mit.edu 37 11 74085522 74085522 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:74085522G>A ENST00000298198.4 - 2 528 c.217C>T c.(217-219)Cgt>Tgt p.R73C NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 73 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) ATGGCAGAACGAAGTCCTGCA 0.413000 15 19 0 0 0.000422831 0 0 ARAP2 116984 broad.mit.edu 37 4 36230649 36230649 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:36230649G>A ENST00000303965.4 - 2 949 c.460C>T c.(460-462)Ccc>Tcc p.P154S NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 154 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TCTGCAGTGGGGAAGTCGCGT 0.388000 23 38 0 0 0.00278032 0 0 PKD2 5311 broad.mit.edu 37 4 88996693 88996693 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:88996693C>T ENST00000237596.2 + 15 2820 c.2754C>T c.(2752-2754)tcC>tcT p.S918S PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Silent_p.S336S|PKD2_ENST00000502363.1_Silent_p.S336S NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 918 C-terminal coiled coil domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) GCTGGGAATCCGATGATGCAG 0.512000 37 62 0 0 0.000814825 0 0 TMEM39B 55116 broad.mit.edu 37 1 32560459 32560459 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:32560459C>T ENST00000427288.1 + 8 1137 c.657C>T c.(655-657)ctC>ctT p.L219L TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Silent_p.L135L|TMEM39B_ENST00000336294.5_Silent_p.L334L Q9GZU3 TM39B_HUMAN transmembrane protein 39B 334 integral to membrane endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CCGTGATCCTCATGCAGCACC 0.602000 29 37 0 0 0.00209593 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635712 141635712 + Missense_Mutation SNP A A T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:141635712A>T ENST00000546910.1 - 5 443 c.247T>A c.(247-249)Ttt>Att p.F83I CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.F60I|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.F60I NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 83 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) GATAAGAAAAAACATCTTGCT 0.418000 31 34 0 0 0.00209593 0 0 AMBP 259 broad.mit.edu 37 9 116840465 116840465 + Silent SNP A A G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:116840465A>G ENST00000265132.3 - 1 287 c.25T>C c.(25-27)Ttg>Ctg p.L9L NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 9 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) CTCAGCAGCAAGAGCAGGGCC 0.617000 26 23 0 0 0.001512 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820308 35820308 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:35820308G>A ENST00000399992.1 + 3 190 c.91G>A c.(91-93)Gtc>Atc p.V31I MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR A2A368 MAGBG_HUMAN melanoma antigen family B, 16 0 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 ACCCACAAGGGTCATCATGTC 0.537000 20 14 0 0 0.00229938 0 0 OR2T12 127064 broad.mit.edu 37 1 248458752 248458752 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:248458752C>T ENST00000317996.1 - 1 128 c.129G>A c.(127-129)atG>atA p.M43I NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TCAGGAGAATCATGAGGGCAT 0.522000 29 50 0 0 0.00178596 0 0 LGSN 51557 broad.mit.edu 37 6 63991013 63991013 + Missense_Mutation SNP A A G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:63991013A>G ENST00000370658.5 - 4 476 c.443T>C c.(442-444)gTc>gCc p.V148A LGSN_ENST00000370657.4_Missense_Mutation_p.V148A NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 148 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TGGCATTAGGACTATGTCGCT 0.418000 7 89 0 0 0.00198382 0 0 FAM83D 81610 broad.mit.edu 37 20 37576532 37576532 + Missense_Mutation SNP G G T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:37576532G>T ENST00000217429.4 + 3 796 c.755G>T c.(754-756)cGg>cTg p.R252L NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 222 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) ATGACAGTTCGGACTATCACA 0.413000 5 103 0.00116845 0.00516158 0.00116845 1 0 ZNF488 118738 broad.mit.edu 37 10 48371431 48371431 + Missense_Mutation SNP A A T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:48371431A>T ENST00000395702.2 + 2 1126 c.899A>T c.(898-900)aAg>aTg p.K300M ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.K193M Q96MN9 ZN488_HUMAN zinc finger protein 488 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CACCACAAAAAGGAGCATGCG 0.602000 25 14 0 0 0.00106085 0 0 MED12L 116931 broad.mit.edu 37 3 150877779 150877779 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:150877779G>A ENST00000474524.1 + 7 1036 c.998G>A c.(997-999)aGc>aAc p.S333N MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.S333N|MED12L_ENST00000422248.2_Missense_Mutation_p.S333N NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 333 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGGGCCCCCAGCCCTGGCCCC 0.597000 22 68 0 0 0.00229938 0 0 SPANXN2 494119 broad.mit.edu 37 X 142803707 142803707 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:142803707G>A ENST00000370498.1 - 1 809 c.56C>T c.(55-57)tCc>tTc p.S19F NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 19 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTTGTTATTGGATTCACAGGG 0.443000 48 20 0 0 0.000781405 0 0 HIVEP2 3097 broad.mit.edu 37 6 143081308 143081308 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:143081308G>A ENST00000367603.2 - 9 6859 c.6117C>T c.(6115-6117)ttC>ttT p.F2039F HIVEP2_ENST00000367604.1_Silent_p.F2039F|HIVEP2_ENST00000012134.2_Silent_p.F2039F NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2039 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TTGAGGGTGAGAAGTCCCTGG 0.478000 34 23 0 0 0.000953801 0 0 SAMD9 54809 broad.mit.edu 37 7 92735124 92735124 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:92735124G>A ENST00000379958.2 - 3 556 c.287C>T c.(286-288)cCt>cTt p.P96L NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 96 cytoplasm p.P96L(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTGGTCTTTAGGAGCATTTTT 0.388000 54 118 0 0 0.000781405 0 0 BIRC6 57448 broad.mit.edu 37 2 32724764 32724764 + Silent SNP C C T rs111947829 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:32724764C>T ENST00000421745.2 + 46 8753 c.8619C>T c.(8617-8619)tgC>tgT p.C2873C NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2873 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATATCACTTGCTCAGACAAAG 0.433000 64 135 0 0 0.000781405 0 0 KCNB2 9312 broad.mit.edu 37 8 73848737 73848737 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:73848737G>A ENST00000523207.1 + 3 1735 c.1147G>A c.(1147-1149)Ggc>Agc p.G383S NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 383 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GACCACTGTTGGCTATGGTGA 0.453000 34 55 0 0 0.000692331 0 0 VPS13C 54832 broad.mit.edu 37 15 62241655 62241655 + Silent SNP G G A rs80151244 byFrequency TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:62241655G>A ENST00000261517.5 - 42 4819 c.4746C>T c.(4744-4746)atC>atT p.I1582I VPS13C_ENST00000249837.3_Silent_p.I1539I|VPS13C_ENST00000395898.3_Silent_p.I1539I|VPS13C_ENST00000395896.4_Silent_p.I1582I NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1582 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 CTTTGACAGCGATACTTCTGG 0.348000 38 63 0 0 0.00128727 0 0 PSG8 440533 broad.mit.edu 37 19 43258585 43258585 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:43258585G>A ENST00000404209.4 - 5 1239 c.1143C>T c.(1141-1143)atC>atT p.I381I PSG8_ENST00000406636.3_Silent_p.I259I|PSG8_ENST00000306511.4_Silent_p.I381I|PSG8_ENST00000401467.2_Silent_p.I288I|PSG8_ENST00000600709.1_5'UTR NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 381 Ig-like C2-type 3. 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) TAATTTGGGGGATAAAGAGCT 0.458000 74 153 0 0 0.000781405 0 0 DRD5 1816 broad.mit.edu 37 4 9784440 9784440 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:9784440G>A ENST00000304374.2 + 1 1183 c.787G>A c.(787-789)Gag>Aag p.E263K NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 263 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TTCCTCCCTGGAGAGGGCCGC 0.627000 8 17 0 0 0.000157383 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971017 21971017 + Missense_Mutation SNP G G A rs121913386 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:21971017G>A ENST00000304494.5 - 2 611 c.341C>T c.(340-342)cCc>cTc p.P114L CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000361570.3_Silent_p.A169A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000579755.1_Silent_p.A128A|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000530628.2_Silent_p.A128A NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 114 P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGGTCCACGGGCAGACGGCC 0.731000 P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 36 24 0 0 0.00170553 0 0 CCDC40 55036 broad.mit.edu 37 17 78055753 78055753 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:78055753G>A ENST00000397545.4 + 12 1912 c.1885G>A c.(1885-1887)Gat>Aat p.D629N CCDC40_ENST00000374877.3_Missense_Mutation_p.D629N NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 629 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GAGGAAGACGGATGCTGCCAT 0.567000 14 25 0 0 0.00244969 0 0 CEP350 9857 broad.mit.edu 37 1 180062691 180062691 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:180062691C>T ENST00000367607.3 + 34 7869 c.7451C>T c.(7450-7452)tCc>tTc p.S2484F CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2484 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GAATCCCCTTCCTTGGCTTCA 0.453000 13 26 0 0 0.00136819 0 0 SLC44A2 57153 broad.mit.edu 37 19 10738467 10738467 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:10738467C>T ENST00000586078.1 + 3 265 c.156C>T c.(154-156)atC>atT p.I52I SLC44A2_ENST00000335757.5_Silent_p.I52I|SLC44A2_ENST00000407327.4_Silent_p.I50I NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 52 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) CTGTAGGCATCATAGGTGAGT 0.587000 28 16 0 0 0.001512 0 0 ACTR5 79913 broad.mit.edu 37 20 37400315 37400315 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:37400315G>A ENST00000243903.4 + 9 1717 c.1680G>A c.(1678-1680)aaG>aaA p.K560K NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 560 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) ATGAAGAAAAGGGAGGAGAGT 0.552000 21 35 0 0 0.00106085 0 0 LYST 1130 broad.mit.edu 37 1 235969602 235969602 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:235969602G>A ENST00000389794.3 - 6 3008 c.2834C>T c.(2833-2835)tCt>tTt p.S945F LYST_ENST00000536965.1_Missense_Mutation_p.S945F|LYST_ENST00000389793.2_Missense_Mutation_p.S945F Q99698 LYST_HUMAN lysosomal trafficking regulator 945 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GCTCTCGAGAGATATACATGG 0.483000 46 60 0 0 0.000781405 0 0 HERC1 8925 broad.mit.edu 37 15 63955388 63955388 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:63955388G>A ENST00000443617.2 - 44 8783 c.8696C>T c.(8695-8697)tCt>tTt p.S2899F NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2899 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GGCCTGCACAGAGCGGTATAA 0.393000 56 105 0 0 0.000781405 0 0 LSP1 4046 broad.mit.edu 37 11 1874417 1874417 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:1874417G>A ENST00000311604.3 + 1 218 c.43G>A c.(43-45)Gag>Aag p.E15K NM_002339.2 NP_002330.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 15 Missing (in Ref. 3; AAB29545). cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 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;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) GGAGCGGGAAGAGTTGCTGGG 0.667000 8 10 0 0 0.000274275 0 0 ZNF560 147741 broad.mit.edu 37 19 9579859 9579859 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:9579859C>T ENST00000301480.4 - 9 747 c.534G>A c.(532-534)tgG>tgA p.W178* NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 178 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GGCACATTTTCCATTCTGAAA 0.289000 10 8 0 0 0.000673444 0 0 CACNG6 59285 broad.mit.edu 37 19 54515287 54515287 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:54515287G>A ENST00000252729.2 + 4 1217 c.627G>A c.(625-627)ccG>ccA p.P209P CACNG6_ENST00000352529.1_Silent_p.P138P|CACNG6_ENST00000346968.2_Silent_p.P163P NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 209 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) AGCCTCCCCCGGCCCCACGCC 0.692000 18 26 0 0 0.00229938 0 0 CDCA2 157313 broad.mit.edu 37 8 25343304 25343304 + Silent SNP T T C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:25343304T>C ENST00000330560.3 + 11 1872 c.1395T>C c.(1393-1395)ttT>ttC p.F465F CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.F450F NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 465 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AAGTATCATTTGCCGTTCTCA 0.313000 23 48 0 0 0.000586117 0 0 KIAA1199 57214 broad.mit.edu 37 15 81224217 81224217 + Missense_Mutation SNP G G A rs141395577 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:81224217G>A ENST00000394685.3 + 22 3049 c.2630G>A c.(2629-2631)gGa>gAa p.G877E KIAA1199_ENST00000220244.3_Missense_Mutation_p.G877E|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G877E|RP11-351M8.2_ENST00000560873.1_RNA Q8WUJ3 K1199_HUMAN KIAA1199 877 p.G877E(1) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CCAATTAGAGGAATTCAGTTA 0.473000 31 55 0 0 0.00283554 0 0 ZZEF1 23140 broad.mit.edu 37 17 3947590 3947590 + Missense_Mutation SNP A A T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:3947590A>T ENST00000381638.2 - 38 6218 c.6094T>A c.(6094-6096)Tcg>Acg p.S2032T NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2032 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GGATCCTTCGATAATGATACA 0.393000 25 20 0 0 0.000720815 0 0 TTN 7273 broad.mit.edu 37 2 179498381 179498381 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179498381C>T ENST00000589042.1 - 232 42929 c.42705G>A c.(42703-42705)gtG>gtA p.V14235V TTN_ENST00000460472.2_Silent_p.V5170V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V12594V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.V5362V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V11667V|TTN_ENST00000359218.5_Silent_p.V5295V|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12594 Fibronectin type-III 3. 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) CATGTAATTTCACAGTGAAGT 0.338000 14 21 0 0 0.00244969 0 0 LRG1 116844 broad.mit.edu 37 19 4538062 4538062 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 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 32 13 0 0 0.00209593 0 0 AKAP11 11215 broad.mit.edu 37 13 42875847 42875847 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:42875847C>T ENST00000025301.2 + 8 3140 c.2965C>T c.(2965-2967)Cct>Tct p.P989S NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 989 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TCCCAAATTTCCTGACTCTCA 0.403000 18 33 0 0 0.000566183 0 0 AOC1 26 broad.mit.edu 37 7 150553714 150553714 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:150553714G>A ENST00000493429.1 + 4 740 c.156G>A c.(154-156)aaG>aaA p.K52K AOC1_ENST00000416793.2_Silent_p.K52K|AOC1_ENST00000360937.4_Silent_p.K52K|AOC1_ENST00000467291.1_Silent_p.K52K amine oxidase, copper containing 1 GGTCCAAGAAGGAGCTGAGGC 0.582000 23 35 0 0 0.00047179 0 0 PACRGL 133015 broad.mit.edu 37 4 20728951 20728951 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:20728951C>T ENST00000360916.5 + 8 1044 c.653C>T c.(652-654)tCc>tTc p.S218F PACRGL_ENST00000295290.8_Missense_Mutation_p.S218F|PACRGL_ENST00000503585.1_Missense_Mutation_p.S245F|PACRGL_ENST00000502374.1_3'UTR|PACRGL_ENST00000444671.2_Missense_Mutation_p.S120F|PACRGL_ENST00000502938.1_Missense_Mutation_p.S84F|PACRGL_ENST00000513459.1_Missense_Mutation_p.S165F|PACRGL_ENST00000507634.1_Missense_Mutation_p.S218F|PACRGL_ENST00000538990.1_Missense_Mutation_p.S120F NM_145048.3 NP_659485.1 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like 245 binding endometrium(2)|lung(7)|prostate(1) 10 ACATACTGCTCCATATGCTGT 0.368000 30 62 0 0 0.00127121 0 0 HOXD3 3232 broad.mit.edu 37 2 177036457 177036457 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:177036457G>A ENST00000468418.3 + 4 2844 c.754G>A c.(754-756)Gac>Aac p.D252N HOXD3_ENST00000410016.1_Missense_Mutation_p.D252N|HOXD3_ENST00000249440.3_Missense_Mutation_p.D252N P31249 HXD3_HUMAN homeobox D3 252 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) GTACAAGAAGGACCAGAAGGC 0.662000 15 44 0 0 0.00074312 0 0 PPM1L 151742 broad.mit.edu 37 3 160474204 160474204 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:160474204G>A ENST00000498165.1 + 1 209 c.108G>A c.(106-108)tgG>tgA p.W36* PPM1L_ENST00000497343.1_Nonsense_Mutation_p.W36* NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 36 protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity 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) TGGCTCTATGGAGTTACTTCT 0.542000 10 51 0 0 0.000442599 0 0 CRB1 23418 broad.mit.edu 37 1 197398663 197398663 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:197398663G>A ENST00000367397.1 + 4 1762 c.904G>A c.(904-906)Gcc>Acc p.A302T CRB1_ENST00000367399.2_Missense_Mutation_p.A809T|CRB1_ENST00000544212.1_Missense_Mutation_p.A402T|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.A897T|CRB1_ENST00000367400.3_Missense_Mutation_p.A921T P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 921 EGF-like 8. 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 AAGTGGGAAAGCCTGTGAGGA 0.537000 33 44 0 0 0.0024448 0 0 OTOL1 131149 broad.mit.edu 37 3 161221535 161221535 + Missense_Mutation SNP C C G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:161221535C>G ENST00000327928.4 + 4 1239 c.1239C>G c.(1237-1239)ttC>ttG p.F413L NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 413 C1q. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 AGAAGCAGTTCAAGTCCAGAG 0.473000 5 14 0 0 0.000157383 0 0 PGK2 5232 broad.mit.edu 37 6 49754580 49754580 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:49754580G>A ENST00000304801.3 - 1 473 c.321C>T c.(319-321)gcC>gcT p.A107A NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 107 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) GGTTGGCACAGGCTTTCTCCA 0.507000 22 41 0 0 0.00188189 0 0 BIRC6 57448 broad.mit.edu 37 2 32724761 32724761 + Silent SNP T T C rs137947891 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:32724761T>C ENST00000421745.2 + 46 8750 c.8616T>C c.(8614-8616)acT>acC p.T2872T NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2872 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ACTATATCACTTGCTCAGACA 0.433000 63 132 0 0 0.000781405 0 0 POTEC 388468 broad.mit.edu 37 18 14537894 14537894 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:14537894C>T ENST00000358970.5 - 3 715 c.716G>A c.(715-717)gGa>gAa p.G239E POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 239 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AGTGGTATTTCCATACTCATC 0.383000 35 76 0 0 0.00283554 0 0 DRD5 1816 broad.mit.edu 37 4 9784667 9784667 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:9784667G>A ENST00000304374.2 + 1 1410 c.1014G>A c.(1012-1014)gaG>gaA p.E338E NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 338 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GCGTCAGTGAGACCACCTTCG 0.587000 34 42 0 0 0.00111076 0 0 NUCB1 4924 broad.mit.edu 37 19 49416361 49416361 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:49416361G>A ENST00000405315.4 + 6 908 c.574G>A c.(574-576)Gag>Aag p.E192K NUCB1_ENST00000407032.1_Missense_Mutation_p.E192K|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Missense_Mutation_p.E192K NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 192 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) GCGTTATCTGGAGTCACTGGG 0.597000 27 51 0 0 0.001512 0 0 IGLV3-27 28791 broad.mit.edu 37 22 23011165 23011165 + RNA SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:23011165C>T ENST00000390304.2 + 0 266 CCTCAGGGATCCCTGAGCGAT 0.562000 8 16 0 0 0.000442599 0 0 UBR4 23352 broad.mit.edu 37 1 19443892 19443892 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:19443892G>A ENST00000375267.2 - 73 10649 c.10646C>T c.(10645-10647)tCc>tTc p.S3549F UBR4_ENST00000375254.3_Missense_Mutation_p.S3549F|UBR4_ENST00000375226.2_Missense_Mutation_p.S3525F|UBR4_ENST00000375217.2_Missense_Mutation_p.S3542F|UBR4_ENST00000375218.3_5'UTR Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3549 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CACTTTAATGGAAGACAGCTT 0.423000 32 50 0 0 0.000692331 0 0 RALGPS2 55103 broad.mit.edu 37 1 178846663 178846663 + Missense_Mutation SNP A A T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:178846663A>T ENST00000367635.3 + 9 976 c.638A>T c.(637-639)gAt>gTt p.D213V RALGPS2_ENST00000367634.2_Missense_Mutation_p.D213V|RALGPS2_ENST00000324778.4_Missense_Mutation_p.D178V NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 213 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 ACATACATCGATTCAGCATAC 0.333000 14 51 0 0 0.00074312 0 0 ATP13A4 84239 broad.mit.edu 37 3 193207525 193207525 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:193207525G>A ENST00000342695.4 - 7 1054 c.732C>T c.(730-732)ctC>ctT p.L244L ATP13A4_ENST00000295548.3_Silent_p.L244L|ATP13A4_ENST00000392443.3_Silent_p.L244L NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 244 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) TCACCTCTCTGAGATCATATA 0.313000 66 117 0 0 0.000781405 0 0 DCAF6 55827 broad.mit.edu 37 1 168014467 168014467 + Splice_Site SNP T T C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:168014467T>C ENST00000367840.3 + 16 2352 c.e16+2 DCAF6_ENST00000312263.6_Splice_Site|DCAF6_ENST00000367843.3_Splice_Site|DCAF6_ENST00000432587.2_Splice_Site NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TGGTGATAGGTTGGTAAATTT 0.418000 8 31 0 0 0.000157383 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325114 79325114 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:79325114G>A ENST00000428286.1 - 8 2199 c.999C>T c.(997-999)agC>agT p.S333S PRUNE2_ENST00000376718.3_Silent_p.S692S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 692 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TATCAATGGAGCTTGGCTTAT 0.448000 6 5 0 0 0.00116845 0 0 CSMD1 64478 broad.mit.edu 37 8 2836242 2836242 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:2836242C>T ENST00000520002.1 - 56 9016 c.8461G>A c.(8461-8463)Gga>Aga p.G2821R CSMD1_ENST00000602723.1_Missense_Mutation_p.G2763R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2762R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2821R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2820R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2763R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2821 Sushi 20. 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) ATACTCATTCCATACTCAAAA 0.448000 5 16 0 0 0.000602214 0 0 ATP8A1 10396 broad.mit.edu 37 4 42554606 42554606 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:42554606C>T ENST00000381668.5 - 17 1666 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K ATP8A1_ENST00000264449.10_Missense_Mutation_p.E464K NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 479 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GTAAGAAATTCACATATTATA 0.373000 34 41 0 0 0.00128727 0 0 C12orf36 283422 broad.mit.edu 37 12 13529288 13529288 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:13529288G>A ENST00000318426.2 - 2 269 c.52C>T c.(52-54)Cct>Tct p.P18S C12orf36_ENST00000539026.1_Missense_Mutation_p.P18S|C12orf36_ENST00000532841.1_Missense_Mutation_p.P18S|C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000527705.2_Missense_Mutation_p.P18S chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) taaaaggcagggtgggaacag 0.433000 5 10 0 0 0.000602214 0 0 GPR84 53831 broad.mit.edu 37 12 54757305 54757305 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:54757305G>A ENST00000551809.1 - 1 966 c.331C>T c.(331-333)Ctc>Ttc p.L111F RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.L111F Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 111 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 ATGAGGCAGAGGGTCAGGATG 0.572000 10 6 0 0 0.00136819 0 0 ENPEP 2028 broad.mit.edu 37 4 111397573 111397573 + Translation_Start_Site SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:111397573G>A ENST00000265162.5 + 1 345 c.3G>A c.(1-3)atG>atA p.M1I NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 1 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AAGCAAAAATGAACTTTGCGG 0.408000 39 71 0 0 0.00222228 0 0 IDO2 169355 broad.mit.edu 37 8 39806781 39806781 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:39806781C>T ENST00000502986.2 + 2 378 c.136C>T c.(136-138)Ctg>Ttg p.L46L IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000389060.4_Silent_p.L33L NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 33 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 TCCAGATTCTCTGGTAAGGAT 0.383000 4 5 0 0 0.00024832 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686458 108686458 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:108686458G>A ENST00000312143.7 - 3 645 c.282C>T c.(280-282)atC>atT p.I94I CMKLR1_ENST00000412676.1_Silent_p.I94I|CMKLR1_ENST00000397688.2_Silent_p.I92I|CMKLR1_ENST00000550402.1_Silent_p.I94I|CMKLR1_ENST00000552995.1_Silent_p.I92I NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 94 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 AGGTGATATGGATTGGGAGGA 0.493000 30 15 0 0 0.00058488 0 0 DYSF 8291 broad.mit.edu 37 2 71895914 71895914 + Missense_Mutation SNP C C T rs145832952 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:71895914C>T ENST00000258104.3 + 48 5648 c.5371C>T c.(5371-5373)Ccg>Tcg p.P1791S DYSF_ENST00000429174.2_Missense_Mutation_p.P1812S|DYSF_ENST00000394120.2_Missense_Mutation_p.P1792S|DYSF_ENST00000409582.3_Missense_Mutation_p.P1829S|DYSF_ENST00000410041.1_Missense_Mutation_p.P1809S|DYSF_ENST00000409744.1_Missense_Mutation_p.P1799S|DYSF_ENST00000410020.3_Missense_Mutation_p.P1830S|DYSF_ENST00000409762.1_Missense_Mutation_p.P1808S|DYSF_ENST00000409651.1_Missense_Mutation_p.P1823S|DYSF_ENST00000409366.1_Missense_Mutation_p.P1813S|DYSF_ENST00000413539.2_Missense_Mutation_p.P1822S|DYSF_ENST00000479049.2_3'UTR NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1791 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.P1791S(1) 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 CGACCTATTTCCGAAGGCCCT 0.617000 7 8 0 0 0.00198382 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68248162 68248162 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:68248162G>A ENST00000347230.4 - 22 4595 c.4457C>T c.(4456-4458)cCc>cTc p.P1486L ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1486L NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1486 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TGACTCCAGGGGCCACCTGTC 0.517000 32 32 0 0 0.000692331 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724353 38724353 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:38724353C>T ENST00000342213.2 - 1 1221 c.875G>A c.(874-876)gGa>gAa p.G292E NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 292 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GGTCGGCTGTCCTTCCCCACT 0.667000 18 18 0 0 0.00074312 0 0 KIAA0556 23247 broad.mit.edu 37 16 27784432 27784432 + Missense_Mutation SNP T T C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:27784432T>C ENST00000261588.4 + 23 4230 c.4211T>C c.(4210-4212)tTt>tCt p.F1404S NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1404 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 ATTTTCCAGTTTCAGCTTCTC 0.428000 14 13 0 0 0.000566183 0 0 NFASC 23114 broad.mit.edu 37 1 204948167 204948167 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:204948167C>T ENST00000367172.4 + 18 2276 c.1948C>T c.(1948-1950)Ccc>Tcc p.P650S NFASC_ENST00000360049.4_Missense_Mutation_p.P646S|NFASC_ENST00000404907.1_Missense_Mutation_p.P646S|NFASC_ENST00000338515.6_Missense_Mutation_p.P650S|NFASC_ENST00000513543.1_Missense_Mutation_p.P646S|NFASC_ENST00000338586.6_Missense_Mutation_p.P650S|NFASC_ENST00000367169.4_Missense_Mutation_p.P650S|NFASC_ENST00000539706.1_Missense_Mutation_p.P646S|NFASC_ENST00000339876.6_Missense_Mutation_p.P650S|NFASC_ENST00000404076.1_Missense_Mutation_p.P629S|NFASC_ENST00000367171.4_Missense_Mutation_p.P635S|NFASC_ENST00000367170.4_Missense_Mutation_p.P650S|NFASC_ENST00000401399.1_Missense_Mutation_p.P650S O94856 NFASC_HUMAN neurofascin 650 Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GACCTGGATCCCCGGGGATGC 0.647000 3 3 0 0 0.00024832 0 0 GALNT5 11227 broad.mit.edu 37 2 158157217 158157217 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:158157217C>T ENST00000259056.4 + 7 2630 c.2145C>T c.(2143-2145)atC>atT p.I715I NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 715 Catalytic subdomain B. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.I715I(1) breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 AAATTGAGATCATTCCCTGCT 0.438000 32 70 0 0 0.000814825 0 0 SLC26A3 1811 broad.mit.edu 37 7 107415298 107415298 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:107415298C>T ENST00000340010.5 - 16 1881 c.1697G>A c.(1696-1698)cGa>cAa p.R566Q SLC26A3_ENST00000422236.2_Missense_Mutation_p.R531Q NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 566 STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GCGTAGAATTCGAAGTGGACT 0.398000 35 50 0 0 0.00128727 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869567 151869567 + Missense_Mutation SNP A A G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:151869567A>G ENST00000329342.5 + 3 482 c.257A>G c.(256-258)gAc>gGc p.D86G NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 86 protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TCCTATGAGGACTCCAGCAAC 0.572000 29 8 0 0 0.000953801 0 0 MGLL 11343 broad.mit.edu 37 3 127411046 127411046 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:127411046G>A ENST00000434178.2 - 8 1803 c.907C>T c.(907-909)Ccc>Tcc p.P303S MGLL_ENST00000398101.3_Missense_Mutation_p.P277S|MGLL_ENST00000453507.2_Missense_Mutation_p.P283S|MGLL_ENST00000265052.5_Missense_Mutation_p.P313S|MGLL_ENST00000398104.1_Missense_Mutation_p.P303S|MGLL_ENST00000476682.1_5'UTR Q99685 MGLL_HUMAN monoglyceride lipase 303 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 TGCATTCAGGGTGGGGACGCA 0.532000 17 35 0 0 0.00074312 0 0 LRFN2 57497 broad.mit.edu 37 6 40359697 40359697 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:40359697C>T ENST00000338305.6 - 3 2897 c.2355G>A c.(2353-2355)atG>atA p.M785I NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 785 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CCGTGCTCTCCATCACCCATT 0.597000 11 26 0 0 0.00136819 0 0 PRKCB 5579 broad.mit.edu 37 16 24192196 24192196 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:24192196G>A ENST00000303531.7 + 13 1632 c.1480G>A c.(1480-1482)Gat>Aat p.D494N PRKCB_ENST00000321728.7_Missense_Mutation_p.D494N NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 494 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AAACATCTGGGATGGGGTGAC 0.507000 34 47 0 0 0.00058488 0 0 NARFL 64428 broad.mit.edu 37 16 780930 780930 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:780930C>T ENST00000540986.1 - 9 2234 c.799G>A c.(799-801)Ggc>Agc p.G267S NARFL_ENST00000568545.1_Missense_Mutation_p.G267S|NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000301694.5_3'UTR|NARFL_ENST00000251588.2_Missense_Mutation_p.G369S Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 369 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) TTGCGGAAGCCGTACGCCATT 0.607000 21 45 0 0 0.00229938 0 0 TTN 7273 broad.mit.edu 37 2 179586730 179586730 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179586730C>T ENST00000589042.1 - 78 22884 c.22660G>A c.(22660-22662)Gag>Aag p.E7554K TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E7237K|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6310K|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7237 Ig-like 57. 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) GGACGGATCTCCTTGTTATCT 0.413000 62 118 0 0 0.000781405 0 0 SLC12A9 56996 broad.mit.edu 37 7 100460419 100460419 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:100460419G>A ENST00000354161.3 + 13 1953 c.1828G>A c.(1828-1830)Gct>Act p.A610T SLC12A9_ENST00000540482.1_Missense_Mutation_p.A610T|SLC12A9_ENST00000415287.1_Missense_Mutation_p.A521T|SLC12A9_ENST00000275729.3_Missense_Mutation_p.A521T|SLC12A9_ENST00000428758.1_Missense_Mutation_p.A610T NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 610 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) GCGCCAGGGGGCTCAGCATCT 0.637000 19 53 0 0 0.00229938 0 0 PLXND1 23129 broad.mit.edu 37 3 129276010 129276010 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:129276010G>A ENST00000324093.4 - 34 5680 c.5502C>T c.(5500-5502)atC>atT p.I1834I PLXND1_ENST00000504689.1_5'UTR|PLXND1_ENST00000393239.1_3'UTR NM_015103.2 NP_055918.2 Q9Y4D7 PLXD1_HUMAN plexin D1 1834 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 AGCGCTGCACGATCTTCCGGT 0.587000 13 38 0 0 0.00244969 0 0 KMT2C 58508 broad.mit.edu 37 7 151917674 151917674 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:151917674C>T ENST00000355193.2 - 23 3864 c.3646G>A c.(3646-3648)Gtc>Atc p.V1216I KMT2C_ENST00000262189.6_Missense_Mutation_p.V1216I lysine (K)-specific methyltransferase 2C GTCTGAAGGACGGCCACGCTA 0.398000 12 41 0 0 0.00244969 0 0 EVPL 2125 broad.mit.edu 37 17 74004741 74004741 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:74004741C>T ENST00000301607.3 - 22 4798 c.4545G>A c.(4543-4545)caG>caA p.Q1515Q EVPL_ENST00000586740.1_Silent_p.Q1537Q NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1515 Central fibrous rod domain. 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 TGGTCTTCTCCTGCGATTTGG 0.597000 59 54 0 0 0.000781405 0 0 KNOP1 400506 broad.mit.edu 37 16 19726325 19726325 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:19726325C>T ENST00000219837.7 - 2 111 c.33G>A c.(31-33)ggG>ggA p.G11G AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 TCTCTGGGAGCCCAAGGTCTA 0.378000 33 51 0 0 0.00128727 0 0 TNXB 7148 broad.mit.edu 37 6 32026065 32026065 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:32026065C>T ENST00000375244.3 - 22 7796 c.7595G>A c.(7594-7596)gGa>gAa p.G2532E TNXB_ENST00000375247.2_Missense_Mutation_p.G2532E P22105 TENX_HUMAN tenascin XB 2592 Fibronectin type-III 17. 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 AGGGGAGGATCCTGTCACTGT 0.672000 89 98 0 0 0.000781405 0 0 LRP1B 53353 broad.mit.edu 37 2 141264470 141264470 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:141264470C>T ENST00000389484.3 - 53 9387 c.8416G>A c.(8416-8418)Gat>Aat p.D2806N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2806 LDL-receptor class A 18. 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) GCATTTTCATCACATGTATTA 0.378000 TSP Lung(27;0.18) 21 55 0 0 0.00047179 0 0 HEPH 9843 broad.mit.edu 37 X 65427071 65427071 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:65427071C>T ENST00000519389.1 + 14 2667 c.2488C>T c.(2488-2490)Ctc>Ttc p.L830F HEPH_ENST00000343002.2_Missense_Mutation_p.L776F|HEPH_ENST00000441993.2_Missense_Mutation_p.L779F|HEPH_ENST00000374727.3_Missense_Mutation_p.L779F|HEPH_ENST00000419594.1_Missense_Mutation_p.L587F|HEPH_ENST00000336279.5_Missense_Mutation_p.L509F Q9BQS7 HEPH_HUMAN hephaestin 776 Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CAAGGATGGGCTCCTGGGTTC 0.448000 18 8 0 0 0.00229938 0 0 COLQ 8292 broad.mit.edu 37 3 15498005 15498005 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:15498005G>A ENST00000383788.5 - 14 1161 c.1036C>T c.(1036-1038)Ctg>Ttg p.L346L COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000383786.5_Silent_p.L312L|COLQ_ENST00000383787.2_Silent_p.L337L|COLQ_ENST00000435459.2_Silent_p.L336L|COLQ_ENST00000383781.4_Silent_p.L336L|COLQ_ENST00000603808.1_Silent_p.L346L NM_005677.3 NP_005668.2 Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 346 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 TTGAAGTACAGAGATCTCTGG 0.537000 25 15 0 0 0.001512 0 0 CSMD1 64478 broad.mit.edu 37 8 3216769 3216769 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:3216769G>A ENST00000520002.1 - 22 3767 c.3212C>T c.(3211-3213)tCc>tTc p.S1071F CSMD1_ENST00000602723.1_Missense_Mutation_p.S1071F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1071F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1071F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1071 Sushi 6. 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) CAGGAAGCAGGAAAACGTCAG 0.557000 29 20 0 0 0.00178596 0 0 PRODH2 58510 broad.mit.edu 37 19 36303435 36303435 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:36303435G>A ENST00000301175.3 - 3 443 c.426C>T c.(424-426)ctC>ctT p.L142L NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 142 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGAGCCCAGGAGTCGCCGAG 0.647000 15 11 0 0 0.000422831 0 0 PKP2 5318 broad.mit.edu 37 12 32996156 32996156 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:32996156C>T ENST00000070846.6 - 6 1494 c.1470G>A c.(1468-1470)cgG>cgA p.R490R PKP2_ENST00000340811.4_Intron NM_004572.3 NP_004563.2 Q99959 PKP2_HUMAN plakophilin 2 490 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) acctcgtgatccgcccgcctt 0.547000 10 14 0 0 0.000442599 0 0 AGXT2 64902 broad.mit.edu 37 5 35010173 35010173 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:35010173C>T ENST00000231420.6 - 12 1470 c.1270G>A c.(1270-1272)Gaa>Aaa p.E424K NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 424 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) ATTTCAAATTCATCCCGCAGC 0.438000 35 68 0 0 0.000814825 0 0 MRPS26 64949 broad.mit.edu 37 20 3026876 3026876 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:3026876C>T ENST00000380325.3 + 1 286 c.162C>T c.(160-162)ttC>ttT p.F54F NM_030811.3 NP_110438.1 Q9BYN8 RT26_HUMAN mitochondrial ribosomal protein S26 54 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit kidney(1)|lung(1) 2 CGGAGTTCTTCGTGCTGATGG 0.711000 14 24 0 0 0.000422831 0 0 TMEM119 338773 broad.mit.edu 37 12 108985890 108985890 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:108985890G>A ENST00000392806.3 - 2 438 c.270C>T c.(268-270)ttC>ttT p.F90F NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 90 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 ACTGGCGGAAGAAGTCCACTA 0.632000 10 11 0 0 0.00185496 0 0 PLRG1 5356 broad.mit.edu 37 4 155461993 155461993 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:155461993G>A ENST00000499023.2 - 9 907 c.781C>T c.(781-783)Ctg>Ttg p.L261L PLRG1_ENST00000393905.2_Silent_p.L261L|PLRG1_ENST00000302078.5_Silent_p.L252L NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 261 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) CAAGAGAACAGATATGGGCTC 0.403000 30 59 0 0 0.00209593 0 0 SMYD1 150572 broad.mit.edu 37 2 88402627 88402627 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:88402627G>A ENST00000419482.2 + 7 1024 c.939G>A c.(937-939)ttG>ttA p.L313L SMYD1_ENST00000444564.2_Silent_p.L300L|SMYD1_ENST00000438570.1_Intron NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 313 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 AGGATACATTGGAAAAGATAG 0.458000 36 55 0 0 0.00148497 0 0 PRKD2 25865 broad.mit.edu 37 19 47178312 47178312 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:47178312G>A ENST00000433867.1 - 18 2879 c.2402C>T c.(2401-2403)tCt>tTt p.S801F PRKD2_ENST00000291281.4_Missense_Mutation_p.S801F|PRKD2_ENST00000600194.1_Missense_Mutation_p.S644F|PRKD2_ENST00000601806.1_Missense_Mutation_p.S644F|PRKD2_ENST00000595515.1_Missense_Mutation_p.S811F|DACT3-AS1_ENST00000525008.1_RNA NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 801 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GTGGCTGAGAGATTTGTCCAC 0.562000 6 12 0 0 0.000157383 0 0 OR4M1 441670 broad.mit.edu 37 14 20248579 20248579 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:20248579C>T ENST00000315957.4 + 1 179 c.98C>T c.(97-99)tCc>tTc p.S33F NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S33Y(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATATTTCTATCCTTCTATTTG 0.413000 13 167 0 0 0.000308642 0 0 NKG7 4818 broad.mit.edu 37 19 51875654 51875654 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:51875654C>T ENST00000221978.5 - 1 315 c.136G>A c.(136-138)Ggg>Agg p.G46R NKG7_ENST00000595217.1_Missense_Mutation_p.G46R|NKG7_ENST00000600427.1_Missense_Mutation_p.G46R NM_005601.3 NP_005592.1 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 46 integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCCCCATGCCCTGTTGGCCAG 0.587000 28 60 0 0 0.00178596 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748170 19748170 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:19748170C>T ENST00000400113.3 - 5 1290 c.1186G>A c.(1186-1188)Gat>Aat p.D396N NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 396 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TACATGAGATCGAACTTATGG 0.642000 19 55 0 0 0.000720815 0 0 HPS3 84343 broad.mit.edu 37 3 148857936 148857936 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:148857936C>T ENST00000296051.2 + 2 503 c.363C>T c.(361-363)ttC>ttT p.F121F HPS3_ENST00000460120.1_Intron NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 121 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GCAAAGCCTTCAGAGACCAGA 0.463000 Hermansky-Pudlak syndrome 65 91 0 0 0.000781405 0 0 MYNN 55892 broad.mit.edu 37 3 169496853 169496853 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:169496853C>T ENST00000349841.5 + 3 1227 c.564C>T c.(562-564)tcC>tcT p.S188S MYNN_ENST00000356716.4_Silent_p.S188S|MYNN_ENST00000392733.1_Silent_p.S188S|MYNN_ENST00000544106.1_Silent_p.S188S|RP11-362K14.5_ENST00000602342.1_RNA NM_018657.4 NP_061127.1 Q9NPC7 MYNN_HUMAN myoneurin 188 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) CTTTCAACTCCCCGAAAACAG 0.398000 14 39 0 0 0.00244969 0 0 FCGBP 8857 broad.mit.edu 37 19 40397968 40397968 + Splice_Site SNP A A T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:40397968A>T ENST00000221347.6 - 14 7006 c.7000_splice c.e14+1 p.C2333_splice NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2333 Cys-rich. 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) AGTACTCACGACAGAAGTCCG 0.652000 14 34 0 0 0.00121646 0 0 LILRA1 11024 broad.mit.edu 37 19 55107226 55107226 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:55107226G>A ENST00000251372.3 + 6 966 c.784G>A c.(784-786)Gaa>Aaa p.E262K LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 262 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TAAGGAGGGAGAACGTGACTT 0.612000 29 52 0 0 0.00283554 0 0 RGPD3 653489 broad.mit.edu 37 2 107040826 107040826 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:107040826C>T ENST00000409886.3 - 20 3684 c.3597G>A c.(3595-3597)aaG>aaA p.K1199K RGPD3_ENST00000304514.7_Silent_p.K1199K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1199 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCAGTCCACTCTTCATTTCTT 0.433000 59 81 0 0 0.000781405 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967395 106967395 + RNA SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:106967395G>A ENST00000390622.2 - 0 350 CCTCTAAACTGGAAAAAATCC 0.567000 38 23 0 0 0.000814825 0 0 TMEM169 92691 broad.mit.edu 37 2 216965042 216965042 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:216965042C>T ENST00000454545.1 + 4 997 c.671C>T c.(670-672)tCc>tTc p.S224F TMEM169_ENST00000406027.2_Missense_Mutation_p.S224F|TMEM169_ENST00000295658.4_Missense_Mutation_p.S224F|TMEM169_ENST00000437356.2_Missense_Mutation_p.S224F NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 224 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATGGCTTCTTCCCTCGGCCTC 0.562000 35 89 0 0 0.00111076 0 0 OR51G2 81282 broad.mit.edu 37 11 4936071 4936071 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:4936071G>A ENST00000322013.3 - 1 851 c.823C>T c.(823-825)Cac>Tac p.H275Y MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) TGGACCAGGTGGGGTGCCTGC 0.512000 26 38 0 0 0.000878237 0 0 APCS 325 broad.mit.edu 37 1 159558342 159558342 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:159558342G>A ENST00000255040.2 + 2 613 c.516G>A c.(514-516)gaG>gaA p.E172E NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 172 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) TTGTGGGAGAGATTGGGGATT 0.532000 22 24 0 0 0.00229938 0 0 SLC11A1 6556 broad.mit.edu 37 2 219249953 219249953 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:219249953G>A ENST00000233202.6 + 4 697 c.357G>A c.(355-357)aaG>aaA p.K119K SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 119 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGACAGGCAAGGACTTGGGCG 0.622000 15 60 0 0 0.000308642 0 0 CYP2F1 1572 broad.mit.edu 37 19 41628759 41628759 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:41628759G>A ENST00000331105.2 + 7 927 c.855G>A c.(853-855)atG>atA p.M285I NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 285 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 ACTTCCACATGGATACCCTGC 0.567000 10 23 0 0 0.00136819 0 0 MSLNL 401827 broad.mit.edu 37 16 824237 824237 + Missense_Mutation SNP A A T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:824237A>T ENST00000293892.3 - 9 1918 c.1919T>A c.(1918-1920)tTc>tAc p.F640Y MSLNL_ENST00000442466.1_Missense_Mutation_p.F289Y Q96KJ4 MSLNL_HUMAN mesothelin-like 289 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGACTCCAGGAAGCTGGTGAC 0.677000 4 9 0 0 0.000602214 0 0 ABCD2 225 broad.mit.edu 37 12 39980071 39980071 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:39980071C>T ENST00000308666.3 - 7 1810 c.1675G>A c.(1675-1677)Gat>Aat p.D559N NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 559 ABC transporter. 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 ATGACTTGATCCCGAAGACTT 0.398000 31 14 0 0 0.0024448 0 0 ABCB4 5244 broad.mit.edu 37 7 87037460 87037460 + Missense_Mutation SNP C C G rs140387595 byFrequency TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:87037460C>G ENST00000265723.4 - 25 3283 c.3172G>C c.(3172-3174)Gag>Cag p.E1058Q ABCB4_ENST00000545634.1_Missense_Mutation_p.E1058Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.E1011Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1058Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.E1011Q NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 1058 ABC transporter 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TTCTTCACCTCCAGGCTCAGC 0.532000 25 40 0 0 0.00278032 0 0 C6 729 broad.mit.edu 37 5 41149356 41149356 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:41149356C>T ENST00000263413.3 - 17 2874 c.2610G>A c.(2608-2610)tgG>tgA p.W870* C6_ENST00000337836.5_Nonsense_Mutation_p.W870* NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 870 C5b-binding domain.|Complement control factor I module 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) AACATTTTTCCCAGTCATAGC 0.423000 95 152 0 0 0.000781405 0 0 TMEM132C 92293 broad.mit.edu 37 12 128899729 128899729 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:128899729G>A ENST00000435159.2 + 2 538 c.538G>A c.(538-540)Gag>Aag p.E180K NM_001136103.2 NP_001129575.2 Q8N3T6 T132C_HUMAN transmembrane protein 132C 180 integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 AGAAACCAGAGAGGTGCGGGG 0.642000 5 2 0 0 0.00116845 0 0 CACNA1E 777 broad.mit.edu 37 1 181686335 181686335 + Missense_Mutation SNP A A C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:181686335A>C ENST00000526775.1 + 11 1587 c.1422A>C c.(1420-1422)aaA>aaC p.K474N CACNA1E_ENST00000358338.5_Missense_Mutation_p.K425N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.K474N|CACNA1E_ENST00000367573.2_Missense_Mutation_p.K474N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.K474N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.K425N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.K81N NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 474 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 ACATGGTTAAATCCCAGGTGT 0.542000 7 79 0 0 0.000442599 0 0 MGAM 8972 broad.mit.edu 37 7 141762434 141762434 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:141762434G>A ENST00000475668.2 + 35 4243 c.4189G>A c.(4189-4191)Gaa>Aaa p.E1397K MGAM_ENST00000549489.2_Missense_Mutation_p.E1397K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1397 Glucoamylase. 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) GTGGAAGAGGGAAATAGAAGA 0.408000 15 18 0 0 0.00047179 0 0 TDRD5 163589 broad.mit.edu 37 1 179631372 179631372 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:179631372G>A ENST00000444136.1 + 15 2706 c.2456G>A c.(2455-2457)aGc>aAc p.S819N TDRD5_ENST00000294848.8_Missense_Mutation_p.S765N|TDRD5_ENST00000367614.1_Missense_Mutation_p.S765N NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 810 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 TTTACTGCAAGCCTTGGTGGA 0.448000 9 43 0 0 0.000978159 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74737367 74737367 + Missense_Mutation SNP T T G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:74737367T>G ENST00000370895.1 + 7 757 c.722T>G c.(721-723)aTt>aGt p.I241S TNNI3K_ENST00000326637.3_Missense_Mutation_p.I140S|TNNI3K_ENST00000370891.2_Missense_Mutation_p.I241S|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.I241S|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.I241S Q59H18 TNI3K_HUMAN 140 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GCCCTCCATATTGCTACAATA 0.428000 43 80 0 0 0.0025221 0 0 IL1RAP 3556 broad.mit.edu 37 3 190322008 190322008 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:190322008C>T ENST00000412504.2 + 3 408 c.156C>T c.(154-156)caC>caT p.H52H IL1RAP_ENST00000072516.3_Silent_p.H52H|IL1RAP_ENST00000443369.2_Silent_p.H52H|IL1RAP_ENST00000422485.1_Silent_p.H52H|IL1RAP_ENST00000447382.1_Silent_p.H52H|IL1RAP_ENST00000317757.3_Silent_p.H52H|IL1RAP_ENST00000439062.1_Silent_p.H52H|IL1RAP_ENST00000422940.1_Silent_p.H52H|IL1RAP_ENST00000434491.1_Intron Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 52 Ig-like C2-type 1. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) TCTTTGAACACTTCTTGAAAT 0.493000 11 41 0 0 0.00136819 0 0 AREL1 9870 broad.mit.edu 37 14 75143345 75143345 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:75143345G>A ENST00000356357.4 - 6 1107 c.592C>T c.(592-594)Ccc>Tcc p.P198S AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 TTGTTGGTGGGATTATCATAC 0.448000 9 88 0 0 0.000442599 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751332 26751332 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:26751332G>A ENST00000396641.2 + 2 761 c.169G>A c.(169-171)Gaa>Aaa p.E57K LRRC3B_ENST00000456208.2_Missense_Mutation_p.E57K|LRRC3B_ENST00000417744.1_Missense_Mutation_p.E57K NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 57 LRRNT. integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 AAATCTCAAGGAAATACCTAG 0.413000 27 16 0 0 0.0024448 0 0 PIK3CG 5294 broad.mit.edu 37 7 106513203 106513203 + Missense_Mutation SNP A A T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:106513203A>T ENST00000359195.3 + 4 2417 c.2107A>T c.(2107-2109)Ata>Tta p.I703L PIK3CG_ENST00000496166.1_Missense_Mutation_p.I703L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.I703L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 703 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GAGAAGTGAGATAGCCCAGTC 0.448000 33 55 0 0 0.00148497 0 0 PPHLN1 51535 broad.mit.edu 37 12 42839994 42839994 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:42839994C>T ENST00000432191.2 + 11 1252 c.1180C>T c.(1180-1182)Cag>Tag p.Q394* PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000256678.8_Nonsense_Mutation_p.Q323*|PPHLN1_ENST00000395568.2_Nonsense_Mutation_p.Q418* NM_001143787.1 NP_001137259.1 Q8NEY8 PPHLN_HUMAN periphilin 1 418 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) gaagacaactcaggaggctga 0.547000 4 5 0 0 0.00024832 0 0 APCS 325 broad.mit.edu 37 1 159558294 159558294 + Silent SNP G G A rs41317511 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:159558294G>A ENST00000255040.2 + 2 565 c.468G>A c.(466-468)caG>caA p.Q156Q NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 156 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) GGCAGGAACAGGATTCCTATG 0.493000 15 28 0 0 0.000308642 0 0 GFRAL 389400 broad.mit.edu 37 6 55223796 55223796 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:55223796G>A ENST00000340465.2 + 6 898 c.812G>A c.(811-813)gGa>gAa p.G271E NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 271 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) ACTTGTTCAGGAAGTGATGAC 0.433000 50 69 0 0 0.000781405 0 0 KIFC1 3833 broad.mit.edu 37 6 33371517 33371517 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:33371517C>T ENST00000428849.2 + 6 817 c.367C>T c.(367-369)Cct>Tct p.P123S KIFC1_ENST00000486695.1_3'UTR NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 123 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 ATCAGGTGTTCCTCCCATGGC 0.498000 23 17 0 0 0.00047179 0 0 XIST 7503 broad.mit.edu 37 X 73064337 73064337 + RNA SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:73064337G>A ENST00000429829.1 - 0 8251 NR_001564.2 ATTCAAATAGGATAAGCCATG 0.428000 27 6 0 0 0.00127121 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 33647421 33647421 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:33647421G>A ENST00000558425.1 - 2 178 c.179C>T c.(178-180)cCa>cTa p.P60L TCCCTTCCCTGGAGCCTGGCG 0.552000 75 149 0 0 0.000781405 0 0 STON2 85439 broad.mit.edu 37 14 81736942 81736942 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:81736942G>A ENST00000267540.2 - 5 2885 c.2685C>T c.(2683-2685)ttC>ttT p.F895F STON2_ENST00000555447.1_Intron NM_033104.3 NP_149095.2 Q8WXE9 STON2_HUMAN stonin 2 895 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) TGGCTAAAAGGAATAAGAGGG 0.468000 48 70 0 0 0.000781405 0 0 MOGAT3 346606 broad.mit.edu 37 7 100841986 100841986 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:100841986G>A ENST00000223114.4 - 4 580 c.414C>T c.(412-414)ttC>ttT p.F138F MOGAT3_ENST00000440203.2_Silent_p.F138F|MOGAT3_ENST00000379423.3_Silent_p.F138F NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 138 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GGAGCCCCGGGAAGAGCTGGG 0.597000 21 33 0 0 0.00047179 0 0 HIP1R 9026 broad.mit.edu 37 12 123334490 123334490 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:123334490C>T ENST00000253083.4 + 5 551 c.426C>T c.(424-426)tcC>tcT p.S142S NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 142 ENTH. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CCAAGATCTCCTTCCACCTCA 0.577000 23 9 0 0 0.000878237 0 0 KCTD21 283219 broad.mit.edu 37 11 77885399 77885399 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:77885399G>A ENST00000340067.3 - 2 480 c.202C>T c.(202-204)Ctt>Ttt p.L68F KCTD21-AS1_ENST00000600795.1_RNA NM_001029859.1 NP_001025030.1 Q4G0X4 KCD21_HUMAN potassium channel tetramerization domain containing 21 68 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2) 11 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.46e-24) GGCAGGTCAAGGTGGGAGGTC 0.602000 13 24 0 0 0.00136819 0 0 SSX9 280660 broad.mit.edu 37 X 48159065 48159065 + Splice_Site SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:48159065C>T ENST00000376909.1 - 6 529 c.e6+1 SSX9_ENST00000407081.2_Splice_Site breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 ATTTCCTCTTCCCAGATGCCT 0.532000 56 20 0 0 0.000781405 0 0 PCLO 27445 broad.mit.edu 37 7 82579037 82579037 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:82579037G>A ENST00000423517.2 - 6 11204 c.10867C>T c.(10867-10869)Ctt>Ttt p.L3623F PCLO_ENST00000437081.1_Missense_Mutation_p.L343F|PCLO_ENST00000333891.8_Missense_Mutation_p.L3623F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3554 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 GGTGAGTAAAGGACTTTGGGG 0.478000 31 55 0 0 0.0024448 0 0 EIF4E 1977 broad.mit.edu 37 4 99806186 99806186 + Silent SNP A A G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:99806186A>G ENST00000450253.2 - 6 1950 c.426T>C c.(424-426)ttT>ttC p.F142F EIF4E_ENST00000504432.1_Silent_p.F170F|EIF4E_ENST00000280892.6_Silent_p.F162F|EIF4E_ENST00000505992.1_Silent_p.F173F NM_001968.3 NP_001959.1 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E 142 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) TGTAGTCATCAAAAGATTCTC 0.338000 12 14 0 0 0.00136819 0 0 DEPDC1 55635 broad.mit.edu 37 1 68955286 68955286 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:68955286G>A ENST00000456315.2 - 3 434 c.320C>T c.(319-321)cCt>cTt p.P107L DEPDC1_ENST00000370966.5_Missense_Mutation_p.P107L NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 107 DEP. intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) CGAAGTTGCAGGAAATCTGGT 0.289000 20 46 0 0 0.00152264 0 0 GSPT2 23708 broad.mit.edu 37 X 51488475 51488475 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:51488475C>T ENST00000340438.4 + 1 1995 c.1753C>T c.(1753-1755)Cgt>Tgt p.R585C NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 585 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) ATGCATTGCTCGTTTAAGGAC 0.423000 28 9 0 0 0.00209593 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243589849 243589849 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:243589849G>A ENST00000366541.3 + 16 2092 c.1974G>A c.(1972-1974)acG>acA p.T658T SDCCAG8_ENST00000355875.4_Silent_p.T615T|SDCCAG8_ENST00000343783.6_Silent_p.T513T NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 658 Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity). 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) TACATGAGACGATGAAGCAAA 0.393000 22 25 0 0 0.000586117 0 0 KIF21B 23046 broad.mit.edu 37 1 200960786 200960786 + Splice_Site SNP T T G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:200960786T>G ENST00000332129.2 - 17 2769 c.2454_splice c.e17+1 p.E818_splice KIF21B_ENST00000422435.2_Splice_Site_p.E818_splice|KIF21B_ENST00000461742.2_Splice_Site_p.E818_splice|KIF21B_ENST00000360529.5_Splice_Site_p.E818_splice NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 818 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TGAGCTCACCTCCTGGGTCTT 0.607000 14 13 0 0 0.000308642 0 0 PCNXL2 80003 broad.mit.edu 37 1 233275579 233275579 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:233275579G>A ENST00000258229.8 - 20 3774 c.3540C>T c.(3538-3540)ttC>ttT p.F1180F PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Silent_p.F313F NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1180 integral to membrane 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) AGAGTCTTTCGAACCACATTA 0.323000 13 40 0 0 0.000308642 0 0 NLRP10 338322 broad.mit.edu 37 11 7984936 7984936 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:7984936G>A ENST00000328600.2 - 1 268 c.107C>T c.(106-108)aCc>aTc p.T36I NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 36 DAPIN. ATP binding p.T36I(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCAGACAGGGTCATATCCCG 0.537000 21 38 0 0 0.00278032 0 0 MGAM 8972 broad.mit.edu 37 7 141719039 141719039 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:141719039G>A ENST00000475668.2 + 4 422 c.368G>A c.(367-369)gGa>gAa p.G123E MGAM_ENST00000549489.2_Missense_Mutation_p.G123E O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 123 P-type 1. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.G123E(3) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AATCCCCAGGGAGCTGTAAGT 0.453000 44 81 0 0 0.000680045 0 0 TBC1D32 221322 broad.mit.edu 37 6 121481218 121481218 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:121481218G>A ENST00000275159.6 - 25 2833 c.2834C>T c.(2833-2835)tCa>tTa p.S945L TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Missense_Mutation_p.S904L TBC1 domain family, member 32 TGGATATGATGAAAACATTGG 0.303000 45 44 0 0 0.000781405 0 0 FLG 2312 broad.mit.edu 37 1 152282477 152282477 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152282477C>T ENST00000368799.1 - 3 4920 c.4885G>A c.(4885-4887)Ggc>Agc p.G1629S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1629 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) TTCCTGGAGCCATGTCTTGAC 0.552000 Ichthyosis 49 102 0 0 0.000781405 0 0 CCDC7 221016 broad.mit.edu 37 10 32856725 32856725 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:32856725C>T ENST00000362006.5 + 16 1868 c.1325C>T c.(1324-1326)tCa>tTa p.S442L CCDC7_ENST00000277657.6_Missense_Mutation_p.S442L|C10orf68_ENST00000572165.1_3'UTR NM_145023.4 NP_659460.3 Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 442 NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2) 14 Breast(68;0.000207)|Prostate(175;0.0107) GGTGAAGATTCAAAAAATATA 0.348000 25 15 0 0 0.000586117 0 0 TENM4 26011 broad.mit.edu 37 11 78423616 78423616 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:78423616G>A ENST00000278550.7 - 26 4427 c.3965C>T c.(3964-3966)gCg>gTg p.A1322V NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 ACCTGTCCCCGCAACCACCTC 0.577000 45 64 0 0 0.000781405 0 0 ZNF184 7738 broad.mit.edu 37 6 27424695 27424695 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:27424695G>A ENST00000211936.6 - 5 492 c.208C>T c.(208-210)Caa>Taa p.Q70* ZNF184_ENST00000377419.1_Nonsense_Mutation_p.Q70* NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 70 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTAGAAACTTGGAGTCCTGTT 0.418000 32 41 0 0 0.00283554 0 0 CNGB3 54714 broad.mit.edu 37 8 87616424 87616424 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:87616424C>T ENST00000320005.5 - 15 1725 c.1678G>A c.(1678-1680)Gaa>Aaa p.E560K NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 560 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ATATACATTTCCTTGCCAATT 0.338000 15 31 0 0 0.000308642 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44801501 44801501 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:44801501C>T ENST00000309315.4 + 11 1716 c.1593C>T c.(1591-1593)tgC>tgT p.C531C ZMIZ2_ENST00000441627.1_Silent_p.C531C|ZMIZ2_ENST00000433667.1_Silent_p.C499C|ZMIZ2_ENST00000413916.1_Silent_p.C473C|ZMIZ2_ENST00000265346.7_Silent_p.C505C NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 531 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCGCCTGCTGCTGCGTGCGTG 0.706000 8 23 0 0 0.000274275 0 0 KCNN3 3782 broad.mit.edu 37 1 154698412 154698412 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:154698412C>T ENST00000271915.3 - 5 1996 c.1681G>A c.(1681-1683)Gac>Aac p.D561N KCNN3_ENST00000358505.2_Missense_Mutation_p.D248N|KCNN3_ENST00000361147.4_Missense_Mutation_p.D256N NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 566 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) AGCTGAGTGTCCATCATGAAG 0.572000 8 33 0 0 0.000157383 0 0 ZNF425 155054 broad.mit.edu 37 7 148802061 148802061 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:148802061G>A ENST00000378061.2 - 4 1034 c.902C>T c.(901-903)cCg>cTg p.P301L NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 301 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GCAGCAGAACGGCCGCTCCCC 0.672000 10 19 0 0 0.000673444 0 0 ROS1 6098 broad.mit.edu 37 6 117714445 117714445 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:117714445C>T ENST00000368508.3 - 11 1402 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E411K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 402 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) GGAGTAATTTCCTCGATGTTT 0.363000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 155 85 0 0 0.000781405 0 0 RDX 5962 broad.mit.edu 37 11 110134695 110134695 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:110134695G>A ENST00000343115.4 - 5 776 c.457C>T c.(457-459)Cta>Tta p.L153L RDX_ENST00000528498.1_Silent_p.L153L|RDX_ENST00000544551.1_Intron|RDX_ENST00000405097.1_Silent_p.L153L|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Silent_p.L121L NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 153 FERM. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) CGCTGGGGTAGGAGTCTATCA 0.358000 16 13 0 0 0.00074312 0 0 XRCC1 7515 broad.mit.edu 37 19 44047642 44047642 + Missense_Mutation SNP G G A rs137950555 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:44047642G>A ENST00000262887.5 - 17 2351 c.1804C>T c.(1804-1806)Ccc>Tcc p.P602S XRCC1_ENST00000543982.1_Missense_Mutation_p.P571S P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 602 BRCT 2. base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) GCCAGGGAGGGGTTGTCCATC 0.582000 Other BER factors 25 47 0 0 0.00106085 0 0 SPATC1 375686 broad.mit.edu 37 8 145095179 145095179 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:145095179C>T ENST00000377470.3 + 2 683 c.581C>T c.(580-582)tCt>tTt p.S194F SPATC1_ENST00000447830.2_Missense_Mutation_p.S194F NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 194 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTGGCTGTCTCTCTGAGCAGC 0.667000 14 26 0 0 0.000566183 0 0 DCHS2 54798 broad.mit.edu 37 4 155278420 155278420 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:155278420C>T ENST00000357232.3 - 6 750 c.751G>A c.(751-753)Gaa>Aaa p.E251K DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 251 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ttcattacttccttgtctgct 0.438000 45 73 0 0 0.000680045 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23003354 23003354 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:23003354G>A ENST00000312584.3 - 5 657 c.563C>T c.(562-564)tCc>tTc p.S188F NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 188 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TTTCCCAGTGGAACTGGCAGC 0.522000 46 45 0 0 0.000781405 0 0 ZNF212 7988 broad.mit.edu 37 7 148947573 148947573 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:148947573C>T ENST00000335870.2 + 2 476 c.348C>T c.(346-348)aaC>aaT p.N116N NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) ACGTGGAGAACCTGCTGCGCA 0.612000 58 80 0 0 0.000781405 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554476 20554476 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:20554476C>T ENST00000329697.6 - 11 1558 c.1390G>A c.(1390-1392)Gat>Aat p.D464N ACSM2B_ENST00000565322.1_Missense_Mutation_p.D385N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D464N|ACSM2B_ENST00000565232.1_Missense_Mutation_p.D464N NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 464 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.D464N(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TTAATGATATCATCTGCCCGT 0.507000 75 228 0 0 0.000781405 0 0 OR4N2 390429 broad.mit.edu 37 14 20296197 20296197 + Missense_Mutation SNP T T A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:20296197T>A ENST00000315947.1 + 1 590 c.590T>A c.(589-591)cTt>cAt p.L197H OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 197 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) GTGGTGGAGCTTCTGATGGTC 0.527000 23 50 0 0 0.00188189 0 0 SEL1L2 80343 broad.mit.edu 37 20 13869134 13869134 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:13869134C>T ENST00000284951.5 - 6 648 c.574G>A c.(574-576)Gga>Aga p.G192R SEL1L2_ENST00000378072.5_Missense_Mutation_p.G192R|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 192 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 ATTCCTATTCCATAAGAAGAC 0.274000 17 34 0 0 0.00188189 0 0 FAM49A 81553 broad.mit.edu 37 2 16742506 16742506 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:16742506G>A ENST00000381323.3 - 8 773 c.553C>T c.(553-555)Cga>Tga p.R185* FAM49A_ENST00000355549.2_Nonsense_Mutation_p.R185*|FAM49A_ENST00000406434.1_Nonsense_Mutation_p.R185* NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 185 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) AGGGACATTCGATTGGCCATC 0.403000 46 80 0 0 0.000781405 0 0 ANPEP 290 broad.mit.edu 37 15 90348422 90348422 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:90348422G>A ENST00000300060.6 - 4 1097 c.784C>T c.(784-786)Ccc>Tcc p.P262S NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 262 Interaction with HCoV-229E.|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) TTCCAGTTGGGGTCTTCTGGA 0.607000 39 84 0 0 0.000680045 0 0 ITFG3 83986 broad.mit.edu 37 16 304619 304619 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:304619C>T ENST00000399932.3 + 3 658 c.207C>T c.(205-207)gtC>gtT p.V69V ITFG3_ENST00000600536.1_Silent_p.V69V|ITFG3_ENST00000301678.3_Silent_p.V69V|ITFG3_ENST00000301679.2_Silent_p.V69V|ITFG3_ENST00000450082.2_Silent_p.V69V|ITFG3_ENST00000442458.2_Silent_p.V69V Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 69 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) TCTCATTCGTCATCCCGTGTC 0.607000 79 126 0 0 0.000781405 0 0 EPG5 57724 broad.mit.edu 37 18 43435618 43435618 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:43435618G>A ENST00000282041.5 - 43 7511 c.7477C>T c.(7477-7479)Ctt>Ttt p.L2493F NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2493 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TGAACTGAAAGGAAGGCAGCC 0.453000 13 11 0 0 0.000566183 0 0 LILRB4 11006 broad.mit.edu 37 19 55179408 55179408 + Missense_Mutation SNP C C A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:55179408C>A ENST00000391736.1 + 14 1600 c.1285C>A c.(1285-1287)Cca>Aca p.P429T LILRB4_ENST00000391733.3_Missense_Mutation_p.P430T|LILRB4_ENST00000430952.2_Missense_Mutation_p.P428T|LILRB4_ENST00000270452.2_Missense_Mutation_p.P429T|LILRB4_ENST00000391734.3_Missense_Mutation_p.P376T NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 429 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) TGAGCCTCCTCCATCCCAGGA 0.622000 24 47 1.32143e-28 5.9195e-28 0.00106085 1 0 HTR5A 3361 broad.mit.edu 37 7 154862641 154862641 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:154862641C>T ENST00000287907.2 + 1 608 c.32C>T c.(31-33)tCc>tTc p.S11F AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000493904.1_Intron NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 11 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) ACCTCCTTTTCCCTCTCCACC 0.597000 33 49 0 0 0.00111076 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882709 228882709 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 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 29 54 0 0 0.0024448 0 0 RGS7 6000 broad.mit.edu 37 1 240975228 240975228 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:240975228C>T ENST00000366565.1 - 14 1453 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K RGS7_ENST00000446183.2_Missense_Mutation_p.E274K|RGS7_ENST00000366563.1_Missense_Mutation_p.E358K|RGS7_ENST00000331110.7_Missense_Mutation_p.E332K|RGS7_ENST00000407727.1_Missense_Mutation_p.E358K|RGS7_ENST00000348120.2_Missense_Mutation_p.E305K|RGS7_ENST00000401882.1_Missense_Mutation_p.E305K|RGS7_ENST00000366562.4_Missense_Mutation_p.E358K|RGS7_ENST00000366564.1_Missense_Mutation_p.E358K NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 358 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CTTAAATTTTCCGAGCTGAAT 0.398000 34 27 0 0 0.000814825 0 0 PDE1A 5136 broad.mit.edu 37 2 183129112 183129112 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:183129112C>T ENST00000435564.1 - 2 331 c.131G>A c.(130-132)aGa>aAa p.R44K PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000358139.2_Missense_Mutation_p.R44K|PDE1A_ENST00000351439.5_Missense_Mutation_p.R28K|PDE1A_ENST00000456212.1_Missense_Mutation_p.R44K|PDE1A_ENST00000331935.6_Missense_Mutation_p.R44K|PDE1A_ENST00000409365.1_Missense_Mutation_p.R28K|PDE1A_ENST00000410103.1_Missense_Mutation_p.R44K NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 44 Calmodulin-binding (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) AACATCACCTCTTTCCAGCTG 0.363000 29 43 0 0 0.001512 0 0 P2RX6 9127 broad.mit.edu 37 22 21377663 21377663 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:21377663C>T ENST00000413302.2 + 7 886 c.738C>T c.(736-738)ctC>ctT p.L246L P2RX6_ENST00000401443.1_Silent_p.L220L|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Silent_p.L236L|P2RX6_ENST00000443995.3_Silent_p.L193L O15547 P2RX6_HUMAN purinergic receptor P2X, ligand-gated ion channel, 6 246 muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity TTGGGGACCTCGTGGCCAAGG 0.627000 16 31 0 0 0.000566183 0 0 GFRA1 2674 broad.mit.edu 37 10 118029037 118029037 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:118029037G>A ENST00000439649.3 - 4 763 c.396C>T c.(394-396)ttC>ttT p.F132F GFRA1_ENST00000355422.6_Silent_p.F132F|GFRA1_ENST00000369236.1_Silent_p.F132F NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 132 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) GGACCACCCGGAATATATCTG 0.418000 14 9 0 0 0.000422831 0 0 NTF3 4908 broad.mit.edu 37 12 5603428 5603428 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:5603428C>T ENST00000423158.3 + 2 299 c.87C>T c.(85-87)atC>atT p.I29I NTF3_ENST00000331010.6_Silent_p.I16I|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 16 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 TCCGTGGCATCCAAGGTAACA 0.418000 18 49 0 0 0.000958276 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40259840 40259840 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:40259840C>T ENST00000263791.5 + 9 1356 c.1313C>T c.(1312-1314)aCc>aTc p.T438I EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T438I|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.T438I NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 438 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GCAGAAGGCACCGTCAAGATT 0.478000 28 28 0 0 0.000720815 0 0 SYK 6850 broad.mit.edu 37 9 93629429 93629429 + Missense_Mutation SNP G G A rs143341039 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:93629429G>A ENST00000375754.4 + 7 1011 c.863G>A c.(862-864)gGa>gAa p.G288E SYK_ENST00000375751.4_Intron|SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Missense_Mutation_p.G288E NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 288 Linker. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TCAGCGGGTGGAATAATCTCA 0.443000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 48 32 0 0 0.000781405 0 0 MTUS2 23281 broad.mit.edu 37 13 29600708 29600708 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:29600708G>A ENST00000431530.3 + 1 1961 c.1903G>A c.(1903-1905)Gag>Aag p.E635K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 625 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AAAAACAGAGGAGAGGACAGA 0.537000 15 21 0 0 0.000422831 0 0 HCN1 348980 broad.mit.edu 37 5 45462025 45462025 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:45462025C>T ENST00000303230.4 - 3 991 c.934G>A c.(934-936)Gat>Aat p.D312N NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 312 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.D312N(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGACAACCATCCCAGTGGCAC 0.413000 19 18 0 0 0.00121646 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40259841 40259841 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:40259841C>T ENST00000263791.5 + 9 1357 c.1314C>T c.(1312-1314)acC>acT p.T438T EIF2AK4_ENST00000382727.2_Silent_p.T438T|EIF2AK4_ENST00000559624.1_Silent_p.T438T NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 438 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CAGAAGGCACCGTCAAGATTA 0.483000 27 26 0 0 0.000586117 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616580 77616580 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:77616580C>T ENST00000521891.2 + 2 705 c.257C>T c.(256-258)gCc>gTc p.A86V ZFHX4_ENST00000455469.2_Missense_Mutation_p.A86V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A86V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A86V|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 86 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A86V(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACGAATGTGCCACTTCTTTT 0.507000 HNSCC(33;0.089) 48 95 0 0 0.000781405 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47333652 47333652 + RNA SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:47333652C>T ENST00000505841.1 - 0 1036 NR_002788.2 TAGGAGTTCCCTGATTTCATC 0.428000 4 13 0 0 0.000602214 0 0 NKTR 4820 broad.mit.edu 37 3 42679340 42679340 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:42679340C>T ENST00000232978.8 + 13 2332 c.2144C>T c.(2143-2145)tCa>tTa p.S715L RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 715 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) CTAGCTAGTTCACATTCAAGG 0.378000 40 25 0 0 0.000781405 0 0 PCSK5 5125 broad.mit.edu 37 9 78803520 78803520 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:78803520C>T ENST00000545128.1 + 18 2847 c.2309C>T c.(2308-2310)tCc>tTc p.S770F PCSK5_ENST00000376752.4_Missense_Mutation_p.S770F NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 770 CRM (Cys-rich motif). 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 TGCTCTGTCTCCTGTGAAGAT 0.517000 24 13 0 0 0.00106085 0 0 CHIAP2 149620 broad.mit.edu 37 1 111825284 111825284 + RNA SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:111825284G>A ENST00000369743.4 + 0 1073 NR_003928.1 TGACGGGCTGGACTTTGACTG 0.517000 22 25 0 0 0.00047179 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475286 50475286 + RNA SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:50475286G>A ENST00000602139.1 + 0 1232 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 AATGGAGCACGAAGGAGAGTT 0.677000 12 21 0 0 0.00136819 0 0 LRBA 987 broad.mit.edu 37 4 151203748 151203748 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:151203748C>T ENST00000535741.1 - 55 8643 c.8170G>A c.(8170-8172)Gag>Aag p.E2724K LRBA_ENST00000510413.1_Missense_Mutation_p.E2723K|LRBA_ENST00000357115.3_Missense_Mutation_p.E2735K|LRBA_ENST00000503716.1_5'UTR P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2735 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TCAGGACCCTCCAAGGTCCTC 0.408000 41 72 0 0 0.00285205 0 0 NAV3 89795 broad.mit.edu 37 12 78400287 78400287 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:78400287C>T ENST00000397909.2 + 8 1142 c.969C>T c.(967-969)atC>atT p.I323I NAV3_ENST00000228327.6_Silent_p.I323I|NAV3_ENST00000266692.7_Silent_p.I323I|NAV3_ENST00000536525.2_Silent_p.I323I Q8IVL0 NAV3_HUMAN neuron navigator 3 323 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity 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 CCTCTGCCATCCCTTCTCCAA 0.532000 HNSCC(70;0.22) 33 21 0 0 0.0024448 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579560 140579560 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:140579560G>A ENST00000354757.3 + 1 213 c.213G>A c.(211-213)aaG>aaA p.K71K PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 71 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTAATGATAAGAAACAGCGTT 0.527000 49 18 0 0 0.000781405 0 0 TRIM61 391712 broad.mit.edu 37 4 165891010 165891010 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:165891010C>T ENST00000329314.5 - 3 757 c.145G>A c.(145-147)Gat>Aat p.D49N NM_001012414.2 NP_001012414.1 Q5EBN2 TRI61_HUMAN tripartite motif containing 61 49 intracellular zinc ion binding NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1) 5 all_hematologic(180;0.221) Prostate(90;0.109) GBM - Glioblastoma multiforme(119;0.155) GGGAAACTATCATGTAGATCC 0.463000 15 71 0 0 0.000422831 0 0 CCDC132 55610 broad.mit.edu 37 7 92978050 92978050 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:92978050C>T ENST00000544910.1 + 25 2365 c.2145C>T c.(2143-2145)ttC>ttT p.F715F CCDC132_ENST00000305866.5_Silent_p.F745F|CCDC132_ENST00000541136.1_Silent_p.F556F|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Silent_p.F465F NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 745 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AGTTTGAGTTCCTTCAGCCAC 0.413000 31 72 0 0 0.000692331 0 0 GRK1 6011 broad.mit.edu 37 13 114322079 114322079 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:114322079G>A ENST00000335678.6 + 1 610 c.378G>A c.(376-378)ctG>ctA p.L126L NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 126 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) GCAGCTTCCTGGATGAGGGGA 0.617000 4 13 0 0 0.00024832 0 0 MARK1 4139 broad.mit.edu 37 1 220789325 220789325 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:220789325C>T ENST00000402574.1 + 7 1137 c.135C>T c.(133-135)caC>caT p.H45H MARK1_ENST00000366918.4_Silent_p.H158H|MARK1_ENST00000366917.4_Silent_p.H180H NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 180 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) ACATTGTTCACCGTGATCTTA 0.259000 38 91 0 0 0.0025221 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 9 35 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 2 4 --- --- --- --- KRT8P40 100418728 broad.mit.edu 37 2 178063145 178063168 + RNA DEL TGGGCTCCAGCTTTGGCTCTGGCG TGGGCTCCAGCTTTGGCTCTGGCG - TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:178063145_178063168delTGGGCTCCAGCTTTGGCTCTGGCG ENST00000455416.1 - 0 166 AGCTACGGCCTGGGCTCCAGCTTTGGCTCTGGCGTGGGCTCCAG 0.598 2 4 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57663166 57663167 + Frame_Shift_Del DEL GA GA - TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:57663166_57663167delGA ENST00000402412.1 - 16 2043_2044 c.1653_1654delTC c.(1651-1656)tcacfs p.SH551fs R3HDM2_ENST00000413953.2_Frame_Shift_Del_p.SH264fs|R3HDM2_ENST00000393811.2_Frame_Shift_Del_p.SH264fs|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Frame_Shift_Del_p.SH232fs|R3HDM2_ENST00000403821.2_Frame_Shift_Del_p.SH571fs|R3HDM2_ENST00000358907.2_Frame_Shift_Del_p.SH537fs|R3HDM2_ENST00000347140.3_Frame_Shift_Del_p.SH537fs Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 537 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GCCACCGGGTGAGAGAGAGGTC 0.525 26 32 --- --- --- --- LOC101927978 101927978 broad.mit.edu 37 16 72763868 72763869 + RNA INS - - A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:72763868_72763869insA ENST00000563328.2 + 0 164 CGGTCCAAAACAAAAAAAAAAA 0.436 3 4 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843564 54843565 + RNA INS - - C rs144647366 by1000genomes TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:54843564_54843565insC ENST00000507363.1 - 0 430 CGGCTGCTCCTCCCCAGGCTGC 0.723 2 4 --- --- --- --- DGCR5 26220 broad.mit.edu 37 22 18976301 18976324 + RNA DEL TATTTATTTATTTATTTATTTATT TATTTATTTATTTATTTATTTATT - rs139950802 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT ENST00000438934.1 + 0 394 DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA TGGCTGGACAtatttatttatttatttatttatttatttattta 0.411 3 3 --- --- --- ---