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 ZNF266 10781 broad.mit.edu 37 19 9524550 9524550 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:9524550G>A ENST00000592904.1 - 5 3127 c.1051C>T c.(1051-1053)Ccc>Tcc p.P351S ZNF266_ENST00000588933.1_Missense_Mutation_p.P351S|ZNF266_ENST00000361151.1_Missense_Mutation_p.P351S|ZNF266_ENST00000588221.1_Missense_Mutation_p.P351S|ZNF266_ENST00000592292.1_Missense_Mutation_p.P351S|ZNF266_ENST00000361451.2_Missense_Mutation_p.P351S|ZNF266_ENST00000590306.1_Missense_Mutation_p.P351S Q14584 ZN266_HUMAN zinc finger protein 266 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 CATTTATAGGGTTTTATTCCA 0.413000 59 32 0 0 0.003610 0 0 ELOVL4 6785 broad.mit.edu 37 6 80635910 80635910 + Splice_Site SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:80635910C>T ENST00000369816.4 - 2 589 c.e2+1 NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) TAAAAACATACCTCTCTGAAG 0.318000 6 12 0 0 0.001168 0 0 MYH11 4629 broad.mit.edu 37 16 15831463 15831463 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:15831463C>T ENST00000338282.6 - 25 3242 c.3136G>A c.(3136-3138)Gaa>Aaa p.E1046K MYH11_ENST00000452625.2_Missense_Mutation_p.E1053K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1053K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1046K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1046K NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1046 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CTCTTCTCTTCCTTCTTTAGC 0.587000 T CBFB AML 18 34 0 0 0.006122 0 0 LPCAT2 54947 broad.mit.edu 37 16 55616943 55616943 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:55616943C>T ENST00000262134.5 + 14 1752 c.1568C>T c.(1567-1569)tCc>tTc p.S523F NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 523 cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 12 ACAACCCCCTCCACCGCCAGT 0.418000 18 35 0 0 0.004990 0 0 UTP20 27340 broad.mit.edu 37 12 101767224 101767224 + Silent SNP C C T rs112278934 byFrequency TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:101767224C>T ENST00000261637.4 + 53 7098 c.6924C>T c.(6922-6924)gcC>gcT p.A2308A NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2308 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 AAATGATCGCCTATCTCTTTG 0.463000 25 30 0 0 0.001512 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 76 0 0 0.001168 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518267 113518267 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:113518267G>A ENST00000284601.3 - 4 2948 c.2880C>T c.(2878-2880)atC>atT p.I960I NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 960 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 CAATACCCTGGATTTCTCTTG 0.388000 64 29 0 0 0.003610 0 0 ARF5 381 broad.mit.edu 37 7 127229612 127229612 + Silent SNP T T A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:127229612T>A ENST00000000233.5 + 3 376 c.222T>A c.(220-222)atT>atA p.I74I GCC1_ENST00000497650.1_Intron|ARF5_ENST00000467281.1_3'UTR NM_001662.3 NP_001653.1 P84085 ARF5_HUMAN ADP-ribosylation factor 5 74 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding cervix(2)|kidney(1)|lung(10)|ovary(1) 14 AGGACAAGATTCGGCCTCTGT 0.488000 14 73 0 0 0.004990 0 0 SETD1A 9739 broad.mit.edu 37 16 30976574 30976574 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:30976574C>T ENST00000262519.8 + 7 2197 c.1511C>T c.(1510-1512)tCc>tTc p.S504F NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 504 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 TCCAAGTTTTCCTTCTTGGCC 0.602000 28 45 0 0 0.001786 0 0 CSMD1 64478 broad.mit.edu 37 8 2813184 2813184 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:2813184G>A ENST00000602557.1 - 65 10479 c.9924C>T c.(9922-9924)ttC>ttT p.F3308F CSMD1_ENST00000542608.1_Silent_p.F3130F|CSMD1_ENST00000537824.1_Silent_p.F3307F|CSMD1_ENST00000520002.1_Silent_p.F3308F|CSMD1_ENST00000602723.1_Silent_p.F3131F|CSMD1_ENST00000400186.3_Silent_p.F3131F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3308 Sushi 28. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCCCTGCGAGGAAAAAGCCTG 0.507000 37 42 0 0 0.004289 0 0 GLRA1 2741 broad.mit.edu 37 5 151239414 151239414 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:151239414G>A ENST00000274576.4 - 4 700 c.408C>T c.(406-408)ttC>ttT p.F136F GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Silent_p.F136F|GLRA1_ENST00000545569.1_Silent_p.F53F NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 136 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGATCTCATGGAAGTGGGCCC 0.522000 48 38 0 0 0.003610 0 0 LIX1 167410 broad.mit.edu 37 5 96460206 96460206 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:96460206C>T ENST00000274382.4 - 2 505 c.210G>A c.(208-210)gtG>gtA p.V70V CTD-2215E18.1_ENST00000509481.1_Intron NM_153234.4 NP_694966.3 Q8N485 LIX1_HUMAN Lix1 homolog (chicken) 70 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1) 10 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) CTGGGAGGGTCACGTAACTCA 0.473000 37 47 0 0 0.004878 0 0 MUC17 140453 broad.mit.edu 37 7 100686664 100686664 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:100686664G>A ENST00000306151.4 + 3 12031 c.11967G>A c.(11965-11967)aaG>aaA p.K3989K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3989 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.K3989N(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAACTACTAAGGAATTTACAA 0.478000 27 110 0 0 0.002445 0 0 GPER1 2852 broad.mit.edu 37 7 1131809 1131809 + Missense_Mutation SNP A A T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:1131809A>T ENST00000397092.1 + 3 1329 c.445A>T c.(445-447)Acc>Tcc p.T149S GPER_ENST00000401670.1_Missense_Mutation_p.T149S|GPER_ENST00000297469.3_Missense_Mutation_p.T149S|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.T149S NM_001039966.1 NP_001035055.1 Q99527 GPER_HUMAN 149 endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 13 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) CTTCTTCCTCACCTGGATGAG 0.612000 16 50 0 0 0.006122 0 0 AGBL1 123624 broad.mit.edu 37 15 87531290 87531290 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:87531290C>T ENST00000441037.2 + 23 3251 c.3156C>T c.(3154-3156)ttC>ttT p.F1052F RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000421325.2_Silent_p.F1052F|AGBL1_ENST00000389298.3_Silent_p.F783F NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 1052 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 caaactttttcaagatgaacc 0.403000 72 141 0 0 0.003610 0 0 MCF2 4168 broad.mit.edu 37 X 138708441 138708441 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chrX:138708441C>T ENST00000520602.1 - 9 1063 c.778G>A c.(778-780)Gaa>Aaa p.E260K MCF2_ENST00000519895.1_Missense_Mutation_p.E260K|MCF2_ENST00000370576.4_Missense_Mutation_p.E200K|MCF2_ENST00000370573.4_Missense_Mutation_p.E200K|MCF2_ENST00000536274.1_Missense_Mutation_p.E161K|MCF2_ENST00000370578.4_Missense_Mutation_p.E345K|MCF2_ENST00000414978.1_Missense_Mutation_p.E260K|MCF2_ENST00000338585.6_Missense_Mutation_p.E200K P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 200 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) AAAGCTGTTTCCATATCATGT 0.343000 33 7 0 0 0.004289 0 0 UGT2B10 7365 broad.mit.edu 37 4 69696575 69696575 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr4:69696575G>A ENST00000265403.7 + 6 1592 c.1565G>A c.(1564-1566)gGa>gAa p.G522E UGT2B10_ENST00000458688.2_Missense_Mutation_p.G438E NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 522 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GCTAGAAAAGGAAAGAAGGGA 0.383000 45 28 0 0 0.003214 0 0 C10orf137 26098 broad.mit.edu 37 10 127414358 127414358 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:127414358C>T ENST00000337623.3 + 6 848 c.743C>T c.(742-744)cCc>cTc p.P248L C10orf137_ENST00000356792.4_Missense_Mutation_p.P248L NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGGCCTGCTCCCTTCGAAATG 0.478000 47 5 0 0 0.003610 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37524229 37524229 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:37524229G>A ENST00000299824.1 + 4 532 c.343G>A c.(343-345)Gaa>Aaa p.E115K PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E115K NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 115 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CAACTTTGAGGAAATTGTGAA 0.602000 19 30 0 0 0.001216 0 0 MED17 9440 broad.mit.edu 37 11 93528151 93528151 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:93528151C>T ENST00000251871.3 + 6 1224 c.937C>T c.(937-939)Cgg>Tgg p.R313W MED17_ENST00000533367.1_Intron NM_004268.4 NP_004259.3 Q9NVC6 MED17_HUMAN mediator complex subunit 17 313 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACAGCTCTCTCGGGAAGCTGT 0.403000 66 55 0 0 0.003610 0 0 ADAM7 8756 broad.mit.edu 37 8 24300064 24300064 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:24300064G>A ENST00000175238.6 + 2 214 c.131G>A c.(130-132)gGa>gAa p.G44E ADAM7_ENST00000441335.2_Missense_Mutation_p.G44E|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G44E|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 44 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CGAGATACTGGACACACCCAT 0.413000 31 122 0 0 0.001786 0 0 USP24 23358 broad.mit.edu 37 1 55586392 55586392 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:55586392C>T ENST00000294383.6 - 38 4384 c.4385G>A c.(4384-4386)aGt>aAt p.S1462N USP24_ENST00000407756.1_Missense_Mutation_p.S1302N NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1462 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 GTCTGTCTGACTAAGAGTGTA 0.468000 4 0 0 0 0.000602 0 0 SLC36A2 153201 broad.mit.edu 37 5 150714951 150714951 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:150714951G>A ENST00000335244.4 - 6 812 c.683C>T c.(682-684)tCc>tTc p.S228F SLC36A2_ENST00000521967.1_Missense_Mutation_p.S228F NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 228 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCCAGCATGGAGAAGATGGT 0.567000 22 36 0 0 0.001523 0 0 TRPC6 7225 broad.mit.edu 37 11 101375213 101375213 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:101375213C>T ENST00000344327.3 - 2 911 c.487G>A c.(487-489)Gat>Aat p.D163N TRPC6_ENST00000348423.4_Missense_Mutation_p.D163N|TRPC6_ENST00000532133.1_Missense_Mutation_p.D163N|TRPC6_ENST00000360497.4_Missense_Mutation_p.D163N NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 163 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGCAAAGCATCCCCAACTCGA 0.463000 26 33 0 0 0.003330 0 0 TTN 7273 broad.mit.edu 37 2 179444752 179444752 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:179444752C>T ENST00000589042.1 - 318 67486 c.67262G>A c.(67261-67263)gGa>gAa p.G22421E RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G20780E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13548E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G19853E|TTN_ENST00000460472.2_Missense_Mutation_p.G13356E|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13481E|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20780 Ig-like 116. 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) GTAGGATTTTCCCTCCTCCAA 0.443000 45 83 0 0 0.002852 0 0 FCRL4 83417 broad.mit.edu 37 1 157548560 157548560 + Splice_Site SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:157548560C>T ENST00000271532.1 - 9 1495 c.1360_splice c.e9+1 p.V454_splice FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 454 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GAATCCTCACCATCAACATAC 0.562000 26 18 0 0 0.005443 0 0 NPAP1 23742 broad.mit.edu 37 15 24923342 24923342 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:24923342C>T ENST00000329468.2 + 1 2802 c.2328C>T c.(2326-2328)gcC>gcT p.A776A NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.A776A(1) AATTTGGGGCCCCTGATGGGC 0.552000 67 104 0 0 0.003610 0 0 TNFRSF25 8718 broad.mit.edu 37 1 6521677 6521677 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:6521677G>A ENST00000377782.3 - 10 1165 c.1098C>T c.(1096-1098)cgC>cgT p.R366R TNFRSF25_ENST00000351959.5_Silent_p.R320R|TNFRSF25_ENST00000351748.3_Silent_p.R174R|TNFRSF25_ENST00000356876.3_Silent_p.R357R|TNFRSF25_ENST00000348333.3_Silent_p.R312R NM_148965.1 NP_683866.1 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, member 25 357 Death. apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1) 10 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) TCTCTGCCTCGCGCAGCCCCA 0.701000 5 25 0 0 0.001984 0 0 MYRF 745 broad.mit.edu 37 11 61539203 61539203 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:61539203G>A ENST00000278836.5 + 6 1068 c.972G>A c.(970-972)ccG>ccA p.P324P TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.P315P NM_001127392.1 NP_001120864.1 myelin regulatory factor CTTGGCACCCGCCAGGTGCCC 0.697000 22 112 0 0 0.003330 0 0 ANO5 203859 broad.mit.edu 37 11 22294508 22294508 + Silent SNP A A T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:22294508A>T ENST00000324559.8 + 19 2525 c.2208A>T c.(2206-2208)ggA>ggT p.G736G ANO5_ENST00000532043.1_3'UTR NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 736 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTCTTTATGGAATGGCTGTCC 0.433000 55 50 0 0 0.003610 0 0 FSHR 2492 broad.mit.edu 37 2 49190802 49190802 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:49190802G>A ENST00000406846.2 - 10 1277 c.1158C>T c.(1156-1158)atC>atT p.I386I FSHR_ENST00000346173.3_Silent_p.I324I|FSHR_ENST00000541117.1_Silent_p.I122I|FSHR_ENST00000304421.4_Silent_p.I360I NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 386 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TGGTAGTTAGGATCACTAGCA 0.463000 Gonadal Dysgenesis, 46 XX 28 33 0 0 0.001061 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21015416 21015416 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:21015416G>A ENST00000381545.3 + 7 771 c.552G>A c.(550-552)ggG>ggA p.G184G SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.G184G|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.G184G|LST3_ENST00000540229.1_Silent_p.G184G NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 184 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GTGGCATAGGGGAAACCCCCA 0.373000 21 61 0 0 0.002780 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140983 143140983 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:143140983C>T ENST00000332690.1 + 1 438 c.438C>T c.(436-438)ttC>ttT p.F146F EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 146 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) GGATGCTCTTCAGCTCTGTAG 0.453000 33 148 0 0 0.002096 0 0 ANK2 287 broad.mit.edu 37 4 114294463 114294463 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr4:114294463G>A ENST00000357077.4 + 45 11770 c.11717G>A c.(11716-11718)cGg>cAg p.R3906Q ANK2_ENST00000509550.1_Missense_Mutation_p.R997Q|ANK2_ENST00000506722.1_Missense_Mutation_p.R1812Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R1821Q|ANK2_ENST00000510275.2_Missense_Mutation_p.R504Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R3873Q NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3873 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.R3906Q(2) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATCATTAGGCGGTATGTATCC 0.388000 10 49 0 0 0.000673 0 0 ATP7B 540 broad.mit.edu 37 13 52548946 52548946 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr13:52548946G>A ENST00000242839.4 - 2 566 c.410C>T c.(409-411)tCc>tTc p.S137F ATP7B_ENST00000542656.1_Missense_Mutation_p.S105F|ATP7B_ENST00000344297.5_Missense_Mutation_p.S137F|ATP7B_ENST00000418097.2_Missense_Mutation_p.S137F|ATP7B_ENST00000400370.3_Missense_Mutation_p.S137F|ATP7B_ENST00000400366.3_Missense_Mutation_p.S137F|ATP7B_ENST00000448424.2_Missense_Mutation_p.S137F NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 137 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GGCAGGCAAGGACCTTGAGGG 0.592000 Wilson disease 40 15 0 0 0.001485 0 0 EZH2 2146 broad.mit.edu 37 7 148514973 148514973 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:148514973G>A ENST00000320356.2 - 10 1357 c.1236C>T c.(1234-1236)tcC>tcT p.S412S EZH2_ENST00000350995.2_Silent_p.S368S|EZH2_ENST00000541220.1_Silent_p.S398S|EZH2_ENST00000460911.1_Silent_p.S407S|EZH2_ENST00000483967.1_Silent_p.S398S|EZH2_ENST00000478654.1_Silent_p.S398S|EZH2_ENST00000476773.1_Silent_p.S398S NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 407 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TCTTACCAGAGGAGCTCGAAG 0.393000 Mis DLBCL 14 70 0 0 0.000958 0 0 CRB1 23418 broad.mit.edu 37 1 197313433 197313433 + Silent SNP T T C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:197313433T>C ENST00000367400.3 + 3 810 c.675T>C c.(673-675)atT>atC p.I225I CRB1_ENST00000538660.1_Silent_p.I225I|CRB1_ENST00000535699.1_Silent_p.I156I|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 225 EGF-like 6; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AATTGGAAATTGACGAATGTT 0.408000 41 131 0 0 0.003610 0 0 HNRNPR 10236 broad.mit.edu 37 1 23637799 23637799 + Missense_Mutation SNP T T A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:23637799T>A ENST00000478691.1 - 9 1161 c.890A>T c.(889-891)aAt>aTt p.N297I HNRNPR_ENST00000427764.2_Missense_Mutation_p.N357I|HNRNPR_ENST00000606561.1_Missense_Mutation_p.N256I|HNRNPR_ENST00000302271.6_Missense_Mutation_p.N395I|HNRNPR_ENST00000426846.2_Missense_Mutation_p.N235I|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374612.1_Missense_Mutation_p.N395I|HNRNPR_ENST00000374616.3_Missense_Mutation_p.N398I NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 395 RRM 2. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) TTCTTTGCCATTCATTTCATC 0.338000 14 12 0 0 0.001855 0 0 SWAP70 23075 broad.mit.edu 37 11 9771499 9771499 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:9771499G>A ENST00000318950.6 + 12 1843 c.1740G>A c.(1738-1740)gaG>gaA p.E580E SWAP70_ENST00000447399.2_Silent_p.E522E NM_015055.2 NP_055870.2 Q9UH65 SWP70_HUMAN SWAP switching B-cell complex 70kDa subunit 580 cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 11 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) ACTGGAAAGAGAAAAAGACCA 0.463000 45 38 0 0 0.002852 0 0 C5orf46 389336 broad.mit.edu 37 5 147286010 147286010 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:147286010G>A ENST00000515291.1 - 1 91 c.55C>T c.(55-57)Ctg>Ttg p.L19L C5orf46_ENST00000318315.4_Silent_p.L19L|C5orf46_ENST00000510432.1_5'UTR Q6UWT4 CE046_HUMAN chromosome 5 open reading frame 46 19 extracellular region NS(1)|lung(1)|prostate(1) 3 TAGCAGGTCAGGAATAAGACA 0.453000 10 17 0 0 0.001368 0 0 CHERP 10523 broad.mit.edu 37 19 16638908 16638908 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:16638908G>A ENST00000546361.2 - 9 1439 c.1288C>T c.(1288-1290)Cct>Tct p.P430S CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.P441S NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 430 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 TGGCCCCAAGGAGCCACGGGG 0.662000 13 59 0 0 0.001368 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42158988 42158988 + Missense_Mutation SNP A A G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:42158988A>G ENST00000444063.1 + 7 983 c.851A>G c.(850-852)aAt>aGt p.N284S L3MBTL1_ENST00000418998.1_Missense_Mutation_p.N352S|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.N284S|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.N352S|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.N284S Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 284 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TTCTGGGTCAATGCCAACTCC 0.557000 66 81 0 0 0.003610 0 0 EYA1 2138 broad.mit.edu 37 8 72229851 72229851 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:72229851G>A ENST00000340726.3 - 7 1131 c.492C>T c.(490-492)ctC>ctT p.L164L EYA1_ENST00000388742.4_Silent_p.L164L|EYA1_ENST00000388741.2_Silent_p.L130L|EYA1_ENST00000303824.7_Silent_p.L158L|EYA1_ENST00000419131.1_Silent_p.L159L|EYA1_ENST00000388740.3_Silent_p.L131L|EYA1_ENST00000388743.2_Silent_p.L163L NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 164 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TGCCATAGCTGAGAAATCCTG 0.463000 62 112 0 0 0.003610 0 0 SCN9A 6335 broad.mit.edu 37 2 167055770 167055770 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:167055770C>T ENST00000375387.4 - 27 5722 c.5382G>A c.(5380-5382)gcG>gcA p.A1794A AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.A1782A|SCN9A_ENST00000303354.6_Silent_p.A1794A|SCN9A_ENST00000409435.1_Silent_p.A1793A Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1793 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TAAACTGGGTCGCATCGGGAT 0.448000 45 59 0 0 0.003214 0 0 DAPK2 23604 broad.mit.edu 37 15 64332401 64332401 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:64332401C>T ENST00000261891.3 - 1 65 c.60G>A c.(58-60)gaG>gaA p.E20E DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Silent_p.E20E|DAPK2_ENST00000558069.1_Silent_p.E20E Q9UIK4 DAPK2_HUMAN death-associated protein kinase 2 20 apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) CATAAAAGTCCTCCACCTTCT 0.527000 31 63 0 0 0.002836 0 0 DSCAM 1826 broad.mit.edu 37 21 41725626 41725626 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr21:41725626G>A ENST00000400454.1 - 5 1177 c.700C>T c.(700-702)Cgc>Tgc p.R234C NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 234 Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATGGCTTTGCGATGGTCAAAC 0.537000 21 17 0 0 0.002299 0 0 MGAM 8972 broad.mit.edu 37 7 141754553 141754553 + Splice_Site SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:141754553G>A ENST00000475668.2 + 27 3213 c.e27-1 MGAM_ENST00000549489.2_Splice_Site O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 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) CTCTGGCCTAGATTTATGATC 0.428000 118 59 0 0 0.003610 0 0 SCARA5 286133 broad.mit.edu 37 8 27729502 27729502 + Silent SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:27729502C>A ENST00000354914.3 - 9 1922 c.1437G>T c.(1435-1437)gtG>gtT p.V479V SCARA5_ENST00000380385.2_Silent_p.V254V NM_173833.5 NP_776194.2 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) 479 SRCR. cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CACAGTTTGTCACCCCCCATT 0.577000 27 39 2.12542e-12 4.84595e-12 0.001061 1 0 CAPSL 133690 broad.mit.edu 37 5 35921135 35921135 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:35921135G>A ENST00000397367.2 - 2 214 c.88C>T c.(88-90)Cga>Tga p.R30* CAPSL_ENST00000397366.1_Nonsense_Mutation_p.R30*|CAPSL_ENST00000514524.1_Nonsense_Mutation_p.R30* NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 30 cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) CACTGCAGTCGGAGTCTTTCA 0.607000 22 36 0 0 0.001523 0 0 CYP2C19 1557 broad.mit.edu 37 10 96612508 96612508 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:96612508G>A ENST00000371321.3 + 9 1392 c.1310G>A c.(1309-1311)gGa>gAa p.G437E CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 437 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) ATTTGTGTGGGAGAGGGCCTG 0.433000 53 19 0 0 0.003610 0 0 C12orf50 160419 broad.mit.edu 37 12 88376883 88376883 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:88376883G>A ENST00000298699.2 - 12 1396 c.1216C>T c.(1216-1218)Cca>Tca p.P406S C12orf50_ENST00000550553.1_Missense_Mutation_p.P367S NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 406 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 TAGTTACCTGGATATATCTTT 0.289000 46 24 0 0 0.003214 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713473 138713473 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr9:138713473C>T ENST00000389532.4 - 11 3098 c.3034G>A c.(3034-3036)Ggg>Agg p.G1012R CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G1023R|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G734R NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1012 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) ACAACCTCCCCAACAGTGTCC 0.522000 24 9 0 0 0.003954 0 0 GPAM 57678 broad.mit.edu 37 10 113926232 113926232 + Missense_Mutation SNP T T G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:113926232T>G ENST00000348367.4 - 12 1346 c.1149A>C c.(1147-1149)agA>agC p.R383S GPAM_ENST00000423155.1_Missense_Mutation_p.R383S|GPAM_ENST00000369425.1_Missense_Mutation_p.R383S Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 383 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) TAATAACACCTCTTGCTACAC 0.383000 56 9 0 0 0.003610 0 0 BCMO1 53630 broad.mit.edu 37 16 81314522 81314522 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:81314522G>A ENST00000258168.2 + 8 1623 c.1162G>A c.(1162-1164)Gaa>Aaa p.E388K BCMO1_ENST00000425577.2_Missense_Mutation_p.E319K NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 388 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 GGCCCTGAAGGAAGAAGATGG 0.413000 11 9 0 0 0.000978 0 0 LLGL1 3996 broad.mit.edu 37 17 18139963 18139963 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:18139963G>A ENST00000316843.4 + 12 1491 c.1395G>A c.(1393-1395)gtG>gtA p.V465V NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 465 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) CCTCGGGTGTGGCGCTGCGGC 0.667000 51 28 0 0 0.003610 0 0 EXD2 55218 broad.mit.edu 37 14 69704552 69704552 + Missense_Mutation SNP A A T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:69704552A>T ENST00000409014.1 + 10 1835 c.1178A>T c.(1177-1179)cAg>cTg p.Q393L EXD2_ENST00000409949.1_Missense_Mutation_p.Q393L|EXD2_ENST00000409675.1_Missense_Mutation_p.Q393L|EXD2_ENST00000409018.3_Missense_Mutation_p.Q518L|EXD2_ENST00000312994.5_Missense_Mutation_p.Q518L|EXD2_ENST00000409242.1_Missense_Mutation_p.Q393L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.Q393L NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 393 Q -> H (in dbSNP:rs8007859). nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 CTGCCTACTCAGCGAAAGGAG 0.607000 25 12 0 0 0.004656 0 0 CSMD2 114784 broad.mit.edu 37 1 34209041 34209041 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:34209041G>A ENST00000373381.4 - 14 2189 c.2013C>T c.(2011-2013)ttC>ttT p.F671F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 631 CUB 4. 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) TGATGACCAGGAAATCAAACT 0.617000 22 72 0 0 0.002780 0 0 USP21 27005 broad.mit.edu 37 1 161134339 161134339 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:161134339C>T ENST00000368002.3 + 11 1698 c.1321C>T c.(1321-1323)Cgg>Tgg p.R441W USP21_ENST00000487163.1_3'UTR|USP21_ENST00000368001.1_Missense_Mutation_p.R441W|USP21_ENST00000289865.8_Missense_Mutation_p.R441W NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 441 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TGACCGATGTCGGCAGAAAAC 0.408000 26 13 0 0 0.001061 0 0 DSCAM 1826 broad.mit.edu 37 21 41447075 41447075 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr21:41447075G>A ENST00000400454.1 - 27 5254 c.4777C>T c.(4777-4779)Ctc>Ttc p.L1593F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1593 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGCATCTTGAGCCCCTCGTTG 0.542000 27 22 0 0 0.001061 0 0 KIAA0930 23313 broad.mit.edu 37 22 45593792 45593792 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr22:45593792G>A ENST00000336156.4 - 9 1118 c.1053C>T c.(1051-1053)tcC>tcT p.S351S KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000443310.3_Silent_p.S333S|KIAA0930_ENST00000251993.7_Silent_p.S356S|KIAA0930_ENST00000391627.2_Silent_p.S317S NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 351 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 TGCCCGACAGGGACCGAGACC 0.607000 23 82 0 0 0.002299 0 0 OR51A7 119687 broad.mit.edu 37 11 4928635 4928635 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:4928635C>T ENST00000359350.4 + 1 36 c.36C>T c.(34-36)ttC>ttT p.F12F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCAAGCTTTTCCTTCTGATTG 0.458000 20 40 0 0 0.001882 0 0 DLST 1743 broad.mit.edu 37 14 75365133 75365133 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:75365133C>T ENST00000334220.4 + 11 893 c.832C>T c.(832-834)Cta>Tta p.L278L DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Silent_p.L192L NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 278 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) TAACCTCAAACTAGGCTTCAT 0.458000 14 48 0 0 0.001855 0 0 COL3A1 1281 broad.mit.edu 37 2 189850417 189850417 + Silent SNP T T C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:189850417T>C ENST00000304636.3 + 4 530 c.360T>C c.(358-360)aaT>aaC p.N120N COL3A1_ENST00000317840.5_Silent_p.N120N NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 120 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTGGGAGAAATGGTGACCCTG 0.438000 22 27 0 0 0.001523 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47583502 47583502 + Missense_Mutation SNP C C T rs145758676 TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:47583502C>T ENST00000334194.3 + 12 1417 c.1414C>T c.(1414-1416)Cgc>Tgc p.R472C CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 472 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 AACTCTGCTCCGCTTCAAGCT 0.468000 37 10 0 0 0.003755 0 0 CSMD2 114784 broad.mit.edu 37 1 34046481 34046481 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:34046481G>A ENST00000373381.4 - 48 7435 c.7259C>T c.(7258-7260)cCt>cTt p.P2420L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2422 CUB 14. 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) TTTCAGCAGAGGACTCTGTCC 0.557000 22 11 0 0 0.003330 0 0 LDB2 9079 broad.mit.edu 37 4 16760851 16760851 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr4:16760851G>A ENST00000502640.1 - 2 313 c.165C>T c.(163-165)gcC>gcT p.A55A LDB2_ENST00000515064.1_Silent_p.A55A|LDB2_ENST00000304523.5_Silent_p.A55A|LDB2_ENST00000441778.2_Silent_p.A55A O43679 LDB2_HUMAN LIM domain binding 2 55 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 AAAATTCAGTGGCAAAGGCGT 0.373000 22 26 0 0 0.002780 0 0 LILRB1 10859 broad.mit.edu 37 19 55143640 55143640 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:55143640C>T ENST00000396331.1 + 6 970 c.613C>T c.(613-615)Ccc>Tcc p.P205S LILRB1_ENST00000434867.2_Missense_Mutation_p.P205S|LILRB1_ENST00000396321.2_Missense_Mutation_p.P205S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P205S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P205S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P205S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P205S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P205S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P205S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P241S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P205S NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 205 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.P205T(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CTCGAACTCTCCCTATGAGTG 0.607000 HNSCC(37;0.09) 110 41 0 0 0.003610 0 0 ACVR1B 91 broad.mit.edu 37 12 52370345 52370345 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:52370345C>T ENST00000257963.4 + 3 643 c.566C>T c.(565-567)tCa>tTa p.S189L ACVR1B_ENST00000541224.1_Missense_Mutation_p.S189L|ACVR1B_ENST00000415850.2_Missense_Mutation_p.S189L|ACVR1B_ENST00000426655.2_Missense_Mutation_p.S189L|ACVR1B_ENST00000542485.1_Missense_Mutation_p.S137L NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 189 GS. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) CTCTCCACCTCAGGGTCTGGC 0.512000 53 49 0 0 0.003610 0 0 CCNE2 9134 broad.mit.edu 37 8 95906295 95906295 + Missense_Mutation SNP G G T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:95906295G>T ENST00000520509.1 - 3 319 c.67C>A c.(67-69)Caa>Aaa p.Q23K CCNE2_ENST00000308108.4_Missense_Mutation_p.Q23K|CCNE2_ENST00000396133.3_Missense_Mutation_p.Q23K O96020 CCNE2_HUMAN cyclin E2 23 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) TGGGCTTCTTGGGGGGATTCC 0.458000 10 1036 0.00448238 0.00994631 0.004482 1 0 MRGPRX1 259249 broad.mit.edu 37 11 18955425 18955425 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:18955425C>T ENST00000302797.3 - 1 1131 c.907G>A c.(907-909)Gaa>Aaa p.E303K NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 303 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCTCCACCTTCATCCACCTCA 0.552000 31 55 0 0 0.001512 0 0 MUC16 94025 broad.mit.edu 37 19 9047181 9047181 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:9047181C>T ENST00000397910.4 - 5 34653 c.34450G>A c.(34450-34452)Gaa>Aaa p.E11484K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11486 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 GTCTCTGGTTCATATGGGGTC 0.507000 92 44 0 0 0.003610 0 0 LAMA1 284217 broad.mit.edu 37 18 7080389 7080389 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr18:7080389C>T ENST00000389658.3 - 2 222 c.129G>A c.(127-129)gaG>gaA p.E43E NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 43 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCGGCCCCTTCTCGCCACAGG 0.547000 8 45 0 0 0.003080 0 0 ATAD2 29028 broad.mit.edu 37 8 124359340 124359340 + Nonsense_Mutation SNP A A T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:124359340A>T ENST00000287394.5 - 16 2311 c.2204T>A c.(2203-2205)tTa>tAa p.L735* ATAD2_ENST00000521903.1_Nonsense_Mutation_p.L53* NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 735 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ACCTGAGTCTAATGTTTTATT 0.318000 17 50 0 0 0.004990 0 0 MROH8 140699 broad.mit.edu 37 20 35769577 35769577 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:35769577G>A ENST00000400441.3 - 12 1475 c.1476C>T c.(1474-1476)tcC>tcT p.S492S MROH8_ENST00000217333.8_Intron|MROH8_ENST00000441008.2_Silent_p.S478S maestro heat-like repeat family member 8 TCTCAAATTGGGACTCTGTAT 0.418000 17 26 0 0 0.004990 0 0 FCRL4 83417 broad.mit.edu 37 1 157548559 157548559 + Splice_Site SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:157548559C>A ENST00000271532.1 - 9 1496 c.e9+1 FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GGAATCCTCACCATCAACATA 0.562000 25 18 9.22233e-05 0.000205642 0.004656 1 0 RXFP1 59350 broad.mit.edu 37 4 159533492 159533492 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr4:159533492G>A ENST00000307765.5 + 8 909 c.658G>A c.(658-660)Gga>Aga p.G220R RXFP1_ENST00000470033.1_Missense_Mutation_p.G187R|RXFP1_ENST00000343542.5_Missense_Mutation_p.G220R|RXFP1_ENST00000448688.2_Missense_Mutation_p.G139R|RXFP1_ENST00000460056.2_Missense_Mutation_p.G139R NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 220 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AACATTTTATGGACTAAATTC 0.274000 4 22 0 0 0.000602 0 0 LGSN 51557 broad.mit.edu 37 6 63990205 63990205 + Nonsense_Mutation SNP G G C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:63990205G>C ENST00000370657.4 - 4 1284 c.1251C>G c.(1249-1251)taC>taG p.Y417* LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 417 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) CCAGCACCAAGTAAGGGTTTG 0.458000 17 51 0 0 0.004990 0 0 MTUS2 23281 broad.mit.edu 37 13 29599560 29599560 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr13:29599560G>A ENST00000431530.3 + 1 813 c.755G>A c.(754-756)cGt>cAt p.R252H NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 242 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 AAGAGTGTGCGTCATCCTAAA 0.562000 15 10 0 0 0.003163 0 0 CISH 1154 broad.mit.edu 37 3 50645938 50645938 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr3:50645938G>A ENST00000443053.2 - 3 385 c.158C>T c.(157-159)cCc>cTc p.P53L CISH_ENST00000348721.3_Missense_Mutation_p.P36L NM_013324.5 NP_037456.5 Q9NSE2 CISH_HUMAN cytokine inducible SH2-containing protein 36 intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth intracellular breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) AGCAGGCAAGGGCTGCATGAC 0.657000 26 5 0 0 0.004656 0 0 SLFN11 91607 broad.mit.edu 37 17 33680383 33680383 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:33680383C>T ENST00000394566.1 - 6 2166 c.1894G>A c.(1894-1896)Gaa>Aaa p.E632K SLFN11_ENST00000308377.4_Missense_Mutation_p.E632K NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 632 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGCTGGTTTTCACAAACGTAG 0.428000 10 44 0 0 0.004007 0 0 ALMS1 7840 broad.mit.edu 37 2 73717740 73717740 + Missense_Mutation SNP G G C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:73717740G>C ENST00000264448.6 + 10 8762 c.8651G>C c.(8650-8652)cGa>cCa p.R2884P ALMS1_ENST00000409009.1_Missense_Mutation_p.R2842P NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2884 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CTTGAACAACGAGAGCTCTTT 0.438000 41 69 0 0 0.002522 0 0 GRID2 2895 broad.mit.edu 37 4 94128596 94128596 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr4:94128596C>T ENST00000282020.4 + 5 1035 c.777C>T c.(775-777)atC>atT p.I259I GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.I164I NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 259 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GTCACTGGATCATTATAAATG 0.328000 12 70 0 0 0.001368 0 0 SACS 26278 broad.mit.edu 37 13 23910492 23910492 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr13:23910492C>T ENST00000382298.3 - 10 8111 c.7523G>A c.(7522-7524)aGa>aAa p.R2508K SACS_ENST00000402364.1_Missense_Mutation_p.R1758K|SACS_ENST00000382292.3_Missense_Mutation_p.R2508K NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2508 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) GGATGCATATCTTTCTAAGGC 0.393000 18 81 0 0 0.001523 0 0 TMC1 117531 broad.mit.edu 37 9 75435973 75435973 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr9:75435973C>T ENST00000297784.5 + 20 2519 c.1979C>T c.(1978-1980)cCa>cTa p.P660L TMC1_ENST00000396237.3_Missense_Mutation_p.P660L|TMC1_ENST00000340019.3_Missense_Mutation_p.P660L|TMC1_ENST00000486417.1_3'UTR NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 660 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TCCCTCCCACCATCTTTTGAT 0.458000 129 30 0 0 0.003610 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420514 55420514 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:55420514G>A ENST00000242994.3 + 2 669 c.291G>A c.(289-291)cgG>cgA p.R97R NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 97 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 CCAGAGAACGGACCCGGATGC 0.498000 11 55 0 0 0.000673 0 0 TMC5 79838 broad.mit.edu 37 16 19474688 19474688 + Splice_Site SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:19474688G>A ENST00000396229.2 + 7 1984 c.1236_splice c.e7+1 p.R412_splice TMC5_ENST00000561503.1_Splice_Site_p.R53_splice|TMC5_ENST00000542583.2_Splice_Site_p.R412_splice|TMC5_ENST00000564959.1_Splice_Site_p.R95_splice|TMC5_ENST00000541464.1_Splice_Site_p.R412_splice|TMC5_ENST00000381414.4_Splice_Site_p.R412_splice|TMC5_ENST00000219821.5_Splice_Site_p.R166_splice NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 412 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCCATTTCCCGGGTAAGTCAG 0.463000 44 42 0 0 0.002852 0 0 RYR1 6261 broad.mit.edu 37 19 39013913 39013913 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:39013913C>T ENST00000355481.4 + 69 10535 c.10404C>T c.(10402-10404)tcC>tcT p.S3468S RYR1_ENST00000359596.3_Silent_p.S3468S|RYR1_ENST00000360985.3_Silent_p.S3468S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3468 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACAACATGTCCTTCCTGACTG 0.552000 114 29 0 0 0.003610 0 0 LEFTY2 7044 broad.mit.edu 37 1 226127455 226127455 + Splice_Site SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:226127455C>T ENST00000366820.5 - 2 846 c.e2+1 LEFTY2_ENST00000474493.1_Splice_Site|LEFTY2_ENST00000420304.2_Splice_Site NM_003240.3 NP_003231.2 O00292 LFTY2_HUMAN left-right determination factor 2 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) GCGACCCCCACCTGGAGTCGA 0.781000 11 10 0 0 0.000673 0 0 SPAG11B 10407 broad.mit.edu 37 8 7308309 7308309 + Missense_Mutation SNP T T C rs149408918 by1000genomes TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:7308309T>C ENST00000398462.2 - 3 478 c.328A>G c.(328-330)Aat>Gat p.N110D SPAG11B_ENST00000458665.1_Missense_Mutation_p.N57D|SPAG11B_ENST00000297498.2_3'UTR|SPAG11B_ENST00000528168.1_3'UTR|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000361111.2_Intron NM_058201.2 NP_478108.2 Q08648 SG11B_HUMAN sperm associated antigen 11B 0 spermatogenesis extracellular region large_intestine(2)|lung(3)|urinary_tract(1) 6 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) CAACACCTATTCCAGGGATCA 0.438000 3 56 0 0 0.004672 0 0 HSPB2 3316 broad.mit.edu 37 11 111784566 111784566 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:111784566C>T ENST00000304298.3 + 2 1084 c.496C>T c.(496-498)Cct>Tct p.P166S HSPB2_ENST00000537382.1_Missense_Mutation_p.P166S|CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533475.1_5'UTR NM_001541.3 NP_001532.1 Q16082 HSPB2_HUMAN heat shock 27kDa protein 2 166 response to heat|response to unfolded protein cytosol|nucleus enzyme activator activity|protein binding large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) CTCCCTGCTCCCTGCGCCTCC 0.577000 19 30 0 0 0.001216 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47218690 47218690 + Missense_Mutation SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:47218690C>A ENST00000300404.2 + 2 335 c.276C>A c.(274-276)ttC>ttA p.F92L B4GALNT2_ENST00000393354.2_Missense_Mutation_p.F32L|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.F6L NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 92 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) GAAGCATGTTCCTTCAAGCAG 0.502000 29 144 1.74807e-11 3.96577e-11 0.002096 1 0 ASPM 259266 broad.mit.edu 37 1 197093279 197093279 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:197093279C>T ENST00000367409.4 - 13 3607 c.3351G>A c.(3349-3351)atG>atA p.M1117I ASPM_ENST00000294732.7_Missense_Mutation_p.M1117I|ASPM_ENST00000367408.1_Missense_Mutation_p.M367I NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1117 CH 2. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTACCCAATCCATCAATAACT 0.284000 7 54 0 0 0.003080 0 0 FLAD1 80308 broad.mit.edu 37 1 154960536 154960536 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:154960536C>T ENST00000368431.3 + 3 851 c.31C>T c.(31-33)Cat>Tat p.H11Y FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000405236.2_Missense_Mutation_p.H11Y|FLAD1_ENST00000315144.10_Intron NM_001184892.1 NP_001171821.1 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 0 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCCTCCCCTTCATCCCTACAG 0.577000 56 37 0 0 0.003610 0 0 COL5A3 50509 broad.mit.edu 37 19 10079154 10079154 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:10079154C>T ENST00000264828.3 - 59 4306 c.4221G>A c.(4219-4221)ttG>ttA p.L1407L NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1407 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TGAGACCGATCAATCCAATGT 0.582000 99 43 0 0 0.003610 0 0 WDTC1 23038 broad.mit.edu 37 1 27618877 27618877 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:27618877C>T ENST00000319394.3 + 7 1186 c.651C>T c.(649-651)atC>atT p.I217I WDTC1_ENST00000361771.3_Silent_p.I217I NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 217 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) TCCGCATGATCCATAACCACA 0.567000 9 54 0 0 0.004482 0 0 THEMIS 387357 broad.mit.edu 37 6 128176299 128176299 + Silent SNP A A G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:128176299A>G ENST00000543064.1 - 2 274 c.126T>C c.(124-126)tgT>tgC p.C42C THEMIS_ENST00000537166.1_Silent_p.C7C|THEMIS_ENST00000368248.2_Silent_p.C42C|THEMIS_ENST00000368250.1_5'UTR NM_001164685.1 NP_001158157.1 Q8N1K5 THMS1_HUMAN thymocyte selection associated 42 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 CTGTTGAAAAACAGCATTCAT 0.318000 14 5 0 0 0.002450 0 0 GPSM3 63940 broad.mit.edu 37 6 32159178 32159178 + Nonsense_Mutation SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:32159178C>A ENST00000375040.3 - 4 840 c.448G>T c.(448-450)Gag>Tag p.E150* GPSM3_ENST00000375043.3_Nonsense_Mutation_p.E150*|GPSM3_ENST00000487761.1_Nonsense_Mutation_p.E147* NM_001276501.1 NP_001263430.1 Q9Y4H4 GPSM3_HUMAN G-protein signaling modulator 3 150 GoLoco 3. signal transduction cytoplasm GTPase activator activity|protein binding large_intestine(1) 1 GACCTTTGCTCCTCCATTCGA 0.647000 111 126 9.67539e-52 2.22827e-51 0.003610 1 0 TMEM132B 114795 broad.mit.edu 37 12 126068397 126068397 + Splice_Site SNP G G C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:126068397G>C ENST00000299308.3 + 5 1287 c.1278_splice c.e5-1 p.D427_splice NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 427 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCCTGTTTAGGACACCGAGGT 0.547000 9 208 0 0 0.000443 0 0 BAZ2B 29994 broad.mit.edu 37 2 160241774 160241774 + Missense_Mutation SNP A A G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:160241774A>G ENST00000392783.2 - 23 4073 c.3578T>C c.(3577-3579)cTt>cCt p.L1193P BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1159P|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1157P|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1093P NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 ACTTTCAGTAAGCTCAGTTTG 0.443000 32 57 0 0 0.002096 0 0 CRHR1 1394 broad.mit.edu 37 17 43898779 43898779 + Silent SNP C C T rs113796058 TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:43898779C>T ENST00000314537.5 + 4 525 c.300C>T c.(298-300)tcC>tcT p.S100S CRHR1_ENST00000577353.1_Silent_p.S100S|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000352855.5_Silent_p.S60S|CRHR1_ENST00000398285.3_Silent_p.S100S NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 100 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) TGAATTACTCCGAGTGCCAGG 0.617000 14 96 0 0 0.004990 0 0 OR4M2 390538 broad.mit.edu 37 15 22368906 22368906 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:22368906G>A ENST00000332663.2 + 1 429 c.331G>A c.(331-333)Gag>Aag p.E111K RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGGGGCTTCGGAGATGTTCTT 0.468000 61 358 0 0 0.003610 0 0 FAAH2 158584 broad.mit.edu 37 X 57405106 57405106 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chrX:57405106G>A ENST00000374900.4 + 6 885 c.765G>A c.(763-765)caG>caA p.Q255Q NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 255 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 ACAAAGGTCAGTTTCCCTTGG 0.493000 HNSCC(52;0.14) 41 7 0 0 0.002522 0 0 FAT1 2195 broad.mit.edu 37 4 187557862 187557862 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr4:187557862G>A ENST00000441802.2 - 5 4058 c.3849C>T c.(3847-3849)ccC>ccT p.P1283P NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1283 Cadherin 11. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTTCTGCATTGGGGCCCTCAT 0.507000 HNSCC(5;0.00058) 150 92 0 0 0.003610 0 0 FBXO48 554251 broad.mit.edu 37 2 68692015 68692015 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:68692015C>T ENST00000377957.2 - 3 670 c.263G>A c.(262-264)cGa>cAa p.R88Q NM_001024680.1 NP_001019851.1 Q5FWF7 FBX48_HUMAN F-box protein 48 88 endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 TATTTCTCTTCGGCACACAGC 0.433000 17 94 0 0 0.001523 0 0 INTS1 26173 broad.mit.edu 37 7 1518129 1518129 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:1518129G>A ENST00000389470.4 - 34 5099 c.5100C>T c.(5098-5100)ctC>ctT p.L1700L INTS1_ENST00000404767.3_Silent_p.L1501L Q8N201 INT1_HUMAN integrator complex subunit 1 1501 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CCAGGCGCAGGAGCCCCCCTC 0.687000 7 18 0 0 0.000443 0 0 UPP2 151531 broad.mit.edu 37 2 158977948 158977948 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:158977948C>T ENST00000605860.1 + 8 699 c.653C>T c.(652-654)aCg>aTg p.T218M UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.T218M|UPP2_ENST00000005756.4_Missense_Mutation_p.T161M O95045 UPP2_HUMAN uridine phosphorylase 2 161 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 GTTGTAATAACGGATATAGCT 0.393000 74 134 0 0 0.003610 0 0 ZNF300 91975 broad.mit.edu 37 5 150275613 150275613 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:150275613C>T ENST00000446148.2 - 7 1663 c.1236G>A c.(1234-1236)ctG>ctA p.L412L ZNF300_ENST00000418587.2_Silent_p.L360L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Silent_p.L396L|ZNF300_ENST00000394226.2_Silent_p.L396L NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTGTATAATCAGCTGTGACT 0.443000 27 30 0 0 0.001061 0 0 KMT2A 4297 broad.mit.edu 37 11 118363900 118363900 + Silent SNP A A G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:118363900A>G ENST00000534358.1 + 16 5156 c.5133A>G c.(5131-5133)ctA>ctG p.L1711L KMT2A_ENST00000389506.5_Silent_p.L1708L|KMT2A_ENST00000354520.4_Silent_p.L1670L NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CTTTAGATCTAGAAGGAGTCA 0.468000 35 31 0 0 0.004878 0 0 RP1 6101 broad.mit.edu 37 8 55538614 55538614 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:55538614G>A ENST00000220676.1 + 4 2320 c.2172G>A c.(2170-2172)ggG>ggA p.G724G NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 724 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTAAAGGAGGGATACTTTGTG 0.338000 17 27 0 0 0.004007 0 0 MYO3A 53904 broad.mit.edu 37 10 26385322 26385322 + Missense_Mutation SNP T T A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:26385322T>A ENST00000265944.5 + 16 1741 c.1575T>A c.(1573-1575)aaT>aaA p.N525K MYO3A_ENST00000543632.1_Missense_Mutation_p.N525K NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 525 Myosin head-like. N -> K (in an ovarian mucinous carcinoma sample; somatic mutation). protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.N525K(2) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GAGAAAAAAATTTTCATATTT 0.318000 15 21 0 0 0.004007 0 0 SEMA6D 80031 broad.mit.edu 37 15 48052083 48052083 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:48052083C>T ENST00000316364.5 + 2 527 c.88C>T c.(88-90)Ctt>Ttt p.L30F SEMA6D_ENST00000355997.3_Missense_Mutation_p.L30F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.L30F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.L30F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.L30F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.L30F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.L30F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.L30F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.L30F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.L30F|SEMA6D_ENST00000389425.3_Missense_Mutation_p.L30F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.L30F NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 30 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TGATGAACCCCTTAATACTGT 0.443000 25 51 0 0 0.001271 0 0 CDH15 1013 broad.mit.edu 37 16 89245928 89245928 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:89245928C>T ENST00000289746.2 + 2 212 c.147C>T c.(145-147)atC>atT p.I49I CDH15_ENST00000521087.1_3'UTR NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 49 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding p.I52fs*38(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) CCTGGGTCATCCCCCCGATCA 0.682000 31 48 0 0 0.003755 0 0 KPNA6 23633 broad.mit.edu 37 1 32636331 32636331 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:32636331C>T ENST00000373625.3 + 14 1540 c.1447C>T c.(1447-1449)Cag>Tag p.Q483* KPNA6_ENST00000537234.1_Nonsense_Mutation_p.Q480*|KPNA6_ENST00000545542.1_Nonsense_Mutation_p.Q488* NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 483 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TGAGTTTCTCCAGAGCCACGA 0.468000 10 70 0 0 0.000673 0 0 BBS9 27241 broad.mit.edu 37 7 33392474 33392474 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:33392474G>A ENST00000242067.6 + 15 2062 c.1541G>A c.(1540-1542)cGa>cAa p.R514Q BBS9_ENST00000396127.2_Missense_Mutation_p.R479Q|BBS9_ENST00000355070.2_Intron|BBS9_ENST00000354265.4_Intron|BBS9_ENST00000350941.3_Intron NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 514 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGGACAGATCGAAATCCTGAT 0.323000 Bardet-Biedl syndrome 12 27 0 0 0.002450 0 0 COL12A1 1303 broad.mit.edu 37 6 75887636 75887636 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:75887636C>T ENST00000322507.8 - 12 2489 c.2180G>A c.(2179-2181)cGa>cAa p.R727Q COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.R727Q|COL12A1_ENST00000416123.2_Missense_Mutation_p.R727Q NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 727 Fibronectin type-III 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CTTTAGGTTTCGAGGTGCTCC 0.294000 38 32 0 0 0.001485 0 0 MYH1 4619 broad.mit.edu 37 17 10406157 10406157 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:10406157G>A ENST00000226207.5 - 24 3103 c.3009C>T c.(3007-3009)ctC>ctT p.L1003L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1003 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGGCCTCCTGGAGAGCCTTCT 0.498000 29 154 0 0 0.002836 0 0 KIAA1407 57577 broad.mit.edu 37 3 113753789 113753789 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr3:113753789C>T ENST00000295878.3 - 6 947 c.801G>A c.(799-801)gtG>gtA p.V267V KIAA1407_ENST00000545063.1_Silent_p.V98V NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 267 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 ATGCTGCTTTCACAGTGCGTC 0.448000 110 24 0 0 0.003610 0 0 PDCL 5082 broad.mit.edu 37 9 125582801 125582801 + Missense_Mutation SNP G G T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr9:125582801G>T ENST00000259467.4 - 4 634 c.469C>A c.(469-471)Caa>Aaa p.Q157K NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 157 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 TGCTTGAATTGGGGCCCCTTG 0.438000 49 19 4.29476e-34 9.86605e-34 0.003610 1 0 ERCC6-PGBD3 101243544 broad.mit.edu 37 10 50724534 50724534 + Silent SNP A A G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:50724534A>G ENST00000515869.1 - 6 2151 c.2031T>C c.(2029-2031)caT>caC p.H677H PGBD3_ENST00000508005.2_Silent_p.H209H|PGBD3_ENST00000603152.1_Silent_p.H677H|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Silent_p.H677H|PGBD3_ENST00000374127.3_Silent_p.H209H NM_001277059.1 NP_001263988.1 CCAGTACATTATGCACATCTG 0.383000 54 7 0 0 0.003610 0 0 SLC22A25 387601 broad.mit.edu 37 11 62997100 62997100 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:62997100G>A ENST00000306494.6 - 1 24 c.25C>T c.(25-27)Caa>Taa p.Q9* SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 9 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CCTCCAACTTGATCTAGGAGG 0.438000 18 45 0 0 0.001216 0 0 YBX3 8531 broad.mit.edu 37 12 10862627 10862627 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:10862627C>T ENST00000228251.4 - 6 860 c.660G>A c.(658-660)cgG>cgA p.R220R YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR NM_003651.4 NP_003642.3 Y box binding protein 3 GCAGCTGATTCCGGGCCCCAG 0.637000 9 25 0 0 0.000673 0 0 UNC79 57578 broad.mit.edu 37 14 94063707 94063707 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:94063707G>A ENST00000553484.1 + 24 3347 c.3193G>A c.(3193-3195)Gaa>Aaa p.E1065K UNC79_ENST00000393151.2_Missense_Mutation_p.E1065K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1065K|UNC79_ENST00000256339.4_Missense_Mutation_p.E888K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1065 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CATTGCAGTGGAAAAAGTTGC 0.423000 6 51 0 0 0.001984 0 0 MOGS 7841 broad.mit.edu 37 2 74688900 74688900 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:74688900G>A ENST00000233616.4 - 4 2178 c.2016C>T c.(2014-2016)ctC>ctT p.L672L MOGS_ENST00000452063.2_Silent_p.L566L|MOGS_ENST00000409065.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 672 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 CCACCCGAACGAGCCCCTGAG 0.587000 37 61 0 0 0.001485 0 0 SSX3 10214 broad.mit.edu 37 X 48214129 48214129 + Missense_Mutation SNP T T C rs113403735 TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chrX:48214129T>C ENST00000298396.2 - 3 174 c.122A>G c.(121-123)aAa>aGa p.K41R SSX3_ENST00000376893.3_Missense_Mutation_p.K41R NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 41 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 CTCCGAGACTTTCATCTTTTC 0.398000 57 9 0 0 0.003610 0 0 ACBD4 79777 broad.mit.edu 37 17 43216450 43216450 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:43216450C>T ENST00000398322.3 + 8 1170 c.712C>T c.(712-714)Cga>Tga p.R238* ACBD4_ENST00000592162.1_Intron|ACBD4_ENST00000591859.1_Silent_p.F250F|ACBD4_ENST00000431281.1_Silent_p.F250F|ACBD4_ENST00000376955.4_Silent_p.F234F|ACBD4_ENST00000321854.8_Nonsense_Mutation_p.R238*|ACBD4_ENST00000586346.1_Silent_p.F250F NM_024722.2 NP_078998.1 Q8NC06 ACBD4_HUMAN acyl-CoA binding domain containing 4 235 fatty-acyl-CoA binding kidney(1)|lung(3)|ovary(1) 5 GGGGACAGTTCGAGCACTACA 0.682000 51 21 0 0 0.003610 0 0 DBF4 10926 broad.mit.edu 37 7 87516704 87516704 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:87516704C>T ENST00000265728.1 + 5 1015 c.511C>T c.(511-513)Cat>Tat p.H171Y NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 171 BRCT 2. cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) AAAAATTCTTCATATTGATGG 0.279000 18 8 0 0 0.002299 0 0 AOC4P 90586 broad.mit.edu 37 17 41020555 41020555 + RNA SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:41020555C>T ENST00000585538.1 + 0 1394 NR_002773.1 AGTCCCAGGCCGCCAAGACAA 0.592000 5 15 0 0 0.000602 0 0 COL7A1 1294 broad.mit.edu 37 3 48622503 48622503 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr3:48622503C>T ENST00000328333.8 - 32 4048 c.3941G>A c.(3940-3942)gGg>gAg p.G1314E COL7A1_ENST00000454817.1_Missense_Mutation_p.G1314E NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1314 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCCAGGATTCCCGGCGCGGCC 0.682000 42 9 0 0 0.003610 0 0 OR56B4 196335 broad.mit.edu 37 11 6129257 6129257 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:6129257C>T ENST00000316529.3 + 1 344 c.249C>T c.(247-249)atC>atT p.I83I NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCACCACCATCATGCCCAAGA 0.493000 33 36 0 0 0.002445 0 0 RBAK 57786 broad.mit.edu 37 7 5104616 5104616 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:5104616C>T ENST00000396912.1 + 5 2048 c.1529C>T c.(1528-1530)cCc>cTc p.P510L RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.P510L NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 510 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GAAGAGAAACCCTATGAATGT 0.403000 10 32 0 0 0.000673 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826519 43826519 + Missense_Mutation SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:43826519C>A ENST00000389420.3 - 20 2815 c.2816G>T c.(2815-2817)gGa>gTa p.G939V ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G93V|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G939V NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 939 TSP type-1 3. proteinaceous extracellular matrix zinc ion binding p.G939L(1)|p.G939V(1) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AACAGTCTGTCCTTCATGAAT 0.423000 23 72 9.57634e-11 2.15645e-10 0.003330 1 0 RUSC2 9853 broad.mit.edu 37 9 35548090 35548090 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr9:35548090G>A ENST00000455600.1 + 2 2141 c.1572G>A c.(1570-1572)ttG>ttA p.L524L NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 524 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CAGTGCGCTTGAGTGAGGGCC 0.667000 4 39 0 0 0.000602 0 0 STK24 8428 broad.mit.edu 37 13 99127125 99127125 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr13:99127125G>A ENST00000397517.2 - 5 623 c.547C>T c.(547-549)Cca>Tca p.P183S STK24_ENST00000376547.3_Missense_Mutation_p.P195S|STK24_ENST00000539966.1_Missense_Mutation_p.P164S NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 195 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) ATCCAGAATGGGGTGCCCACG 0.632000 53 29 0 0 0.003610 0 0 MYO15A 51168 broad.mit.edu 37 17 18023225 18023225 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:18023225C>T ENST00000205890.5 + 2 1449 c.1111C>T c.(1111-1113)Ccc>Tcc p.P371S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 371 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CTACTTTGATCCCTACGGAGT 0.592000 21 111 0 0 0.002299 0 0 SLC5A12 159963 broad.mit.edu 37 11 26743063 26743063 + Missense_Mutation SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:26743063C>A ENST00000396005.3 - 1 508 c.199G>T c.(199-201)Gtc>Ttc p.V67F SLC5A12_ENST00000280467.6_Missense_Mutation_p.V67F NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 67 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 GTCCCCAGGACCGTGACAGCT 0.507000 33 30 2.68265e-12 6.10119e-12 0.002836 1 0 IGF1R 3480 broad.mit.edu 37 15 99500369 99500369 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:99500369G>A ENST00000268035.6 + 21 4413 c.3802G>A c.(3802-3804)Gag>Aag p.E1268K IGF1R_ENST00000558762.1_Missense_Mutation_p.E1267K|RP11-654A16.3_ENST00000559468.1_RNA NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 1268 Protein kinase. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CAGCATCAAAGAGGAGATGGA 0.567000 25 33 0 0 0.002780 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768105 31768105 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:31768105G>A ENST00000240587.4 - 2 2921 c.2594C>T c.(2593-2595)cCt>cTt p.P865L NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 865 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GATGCTGGAAGGAGTGGAGGA 0.547000 18 65 0 0 0.000958 0 0 FPR1 2357 broad.mit.edu 37 19 52250117 52250117 + Missense_Mutation SNP T T C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:52250117T>C ENST00000595042.1 - 3 272 c.131A>G c.(130-132)aAc>aGc p.N44S FPR1_ENST00000304748.4_Missense_Mutation_p.N44S NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 44 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) CACAAGCCCGTTGCCCAGGAC 0.532000 39 13 0 0 0.001287 0 0 KRT71 112802 broad.mit.edu 37 12 52946764 52946764 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:52946764C>T ENST00000267119.5 - 1 167 c.98G>A c.(97-99)cGg>cAg p.R33Q NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 33 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) GCTCCCTGCCCGGAAGGAGGA 0.652000 23 85 0 0 0.004656 0 0 CHRM3 1131 broad.mit.edu 37 1 240071827 240071827 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:240071827C>T ENST00000255380.4 + 5 1855 c.1076C>T c.(1075-1077)tCc>tTc p.S359F NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 359 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GACATTGGCTCCGAGACGAGA 0.572000 3 10 0 0 0.004672 0 0 IKZF1 10320 broad.mit.edu 37 7 50467675 50467675 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:50467675G>A ENST00000331340.3 + 8 1065 c.910G>A c.(910-912)Gaa>Aaa p.E304K IKZF1_ENST00000439701.1_Missense_Mutation_p.E262K|IKZF1_ENST00000343574.5_Missense_Mutation_p.E217K|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.E262K|IKZF1_ENST00000438033.1_Missense_Mutation_p.E217K|IKZF1_ENST00000357364.4_Missense_Mutation_p.E217K|IKZF1_ENST00000346667.4_Missense_Mutation_p.E74K|IKZF1_ENST00000349824.4_Missense_Mutation_p.E161K 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) 304 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) 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) GAAGGAGAACGAAATGATGAA 0.652000 """D,T""" BCL6 """ALL, DLBCL""" 10 5 0 0 0.000978 0 0 IL17A 3605 broad.mit.edu 37 6 52052559 52052559 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:52052559G>A ENST00000340057.1 + 2 231 c.186G>A c.(184-186)agG>agA p.R62R NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 62 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) ATCCCAAAAGGTCCTCAGATT 0.443000 22 75 0 0 0.002299 0 0 NEBL 10529 broad.mit.edu 37 10 21185923 21185923 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:21185923C>T ENST00000377122.4 - 2 513 c.117G>A c.(115-117)atG>atA p.M39I NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.M39I NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 39 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGGCCAATTCCATGCTTAAGT 0.333000 116 25 0 0 0.003610 0 0 PIK3R5 23533 broad.mit.edu 37 17 8792001 8792001 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:8792001C>T ENST00000447110.1 - 10 1227 c.1103G>A c.(1102-1104)gGg>gAg p.G368E PIK3R5_ENST00000584803.1_Missense_Mutation_p.G368E|PIK3R5_ENST00000581552.1_Missense_Mutation_p.G368E 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 5 368 DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). 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 GAGGGCCGGCCCCGAGGCCTG 0.627000 6 47 0 0 0.003080 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717680 142717680 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chrX:142717680C>T ENST00000381779.4 - 2 1470 c.1245G>A c.(1243-1245)gtG>gtA p.V415V SLITRK4_ENST00000338017.4_Silent_p.V415V|SLITRK4_ENST00000356928.1_Silent_p.V415V NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 415 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CTCCCTTAATCACTGTAATTT 0.393000 53 7 0 0 0.003610 0 0 HSPB2 3316 broad.mit.edu 37 11 111784565 111784565 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:111784565C>T ENST00000304298.3 + 2 1083 c.495C>T c.(493-495)ctC>ctT p.L165L HSPB2_ENST00000537382.1_Silent_p.L165L|CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533475.1_5'UTR NM_001541.3 NP_001532.1 Q16082 HSPB2_HUMAN heat shock 27kDa protein 2 165 response to heat|response to unfolded protein cytosol|nucleus enzyme activator activity|protein binding large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) TCTCCCTGCTCCCTGCGCCTC 0.577000 19 30 0 0 0.001216 0 0 CKAP2L 150468 broad.mit.edu 37 2 113496484 113496484 + Silent SNP T T C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:113496484T>C ENST00000541405.1 - 9 2182 c.1659A>G c.(1657-1659)ttA>ttG p.L553L CKAP2L_ENST00000302450.6_Silent_p.L718L|NT5DC4_ENST00000327581.4_Intron Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 718 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 CTTCCACTTCTAACAGTTCAT 0.443000 49 86 0 0 0.003610 0 0 ZFHX3 463 broad.mit.edu 37 16 72923658 72923658 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:72923658G>A ENST00000268489.5 - 4 4092 c.3420C>T c.(3418-3420)acC>acT p.T1140T ZFHX3_ENST00000397992.5_Silent_p.T226T NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1140 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACCTGCGGATGGTGAAGATCT 0.642000 14 20 0 0 0.004990 0 0 LTN1 26046 broad.mit.edu 37 21 30339415 30339415 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr21:30339415G>A ENST00000361371.4 - 10 1548 c.1398C>T c.(1396-1398)tcC>tcT p.S466S LTN1_ENST00000389194.2_Silent_p.S512S|LTN1_ENST00000389195.2_Silent_p.S512S NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 466 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TGGCTTCCCAGGAACTTAGAG 0.413000 39 88 0 0 0.004878 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142526862 142526862 + Missense_Mutation SNP T T C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:142526862T>C ENST00000378004.3 + 20 2259 c.1904T>C c.(1903-1905)cTt>cCt p.L635P ARHGAP26_ENST00000274498.4_Missense_Mutation_p.L635P NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 635 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACAGCATCCTTAATTCCAGC 0.483000 21 38 0 0 0.001216 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672908 141672908 + Silent SNP G G T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:141672908G>T ENST00000547270.1 - 1 665 c.582C>A c.(580-582)tcC>tcA p.S194S NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 194 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) AGAAGAGAAAGGAATAAAATA 0.418000 12 51 5.50884e-06 1.23139e-05 0.001368 1 0 DBR1 51163 broad.mit.edu 37 3 137888984 137888984 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr3:137888984G>A ENST00000260803.4 - 4 607 c.454C>T c.(454-456)Cat>Tat p.H152Y DBR1_ENST00000505015.2_5'UTR NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 152 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTTCTCACATGATATATACTC 0.303000 183 37 0 0 0.003610 0 0 TMEM41B 440026 broad.mit.edu 37 11 9321194 9321194 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:9321194G>A ENST00000528080.1 - 2 514 c.176C>T c.(175-177)tCc>tTc p.S59F TMEM41B_ENST00000527813.1_Missense_Mutation_p.S59F|TMEM41B_ENST00000533723.1_Missense_Mutation_p.S59F NM_015012.3 NP_055827.1 Q5BJD5 TM41B_HUMAN transmembrane protein 41B 59 integral to membrane kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2) 7 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) TAAGAAAATGGACACCAATAT 0.308000 46 44 0 0 0.003610 0 0 SVEP1 79987 broad.mit.edu 37 9 113192706 113192706 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr9:113192706C>T ENST00000401783.2 - 33 5714 c.5378G>A c.(5377-5379)gGa>gAa p.G1793E SVEP1_ENST00000374469.1_Missense_Mutation_p.G1770E NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1793 Sushi 7. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TTCCGGATTTCCTGGAGCCTT 0.423000 20 2 0 0 0.001882 0 0 U2SURP 23350 broad.mit.edu 37 3 142769880 142769880 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr3:142769880C>T ENST00000397933.2 + 24 2699 c.1417C>T c.(1417-1419)Ctt>Ttt p.L473F U2SURP_ENST00000493598.2_Missense_Mutation_p.L881F|U2SURP_ENST00000473835.2_Missense_Mutation_p.L882F O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 882 RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 CAGAGATAAACTTCTTCAACG 0.338000 17 4 0 0 0.004990 0 0 SDK1 221935 broad.mit.edu 37 7 4152989 4152989 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:4152989C>T ENST00000404826.2 + 24 3642 c.3503C>T c.(3502-3504)aCc>aTc p.T1168I SDK1_ENST00000389531.3_Missense_Mutation_p.T1168I NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1168 Fibronectin type-III 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GTCATCCAGACCCTGCAGGCC 0.597000 75 73 0 0 0.003610 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170412 90170412 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr4:90170412C>T ENST00000333209.3 - 2 1368 c.850G>A c.(850-852)Gtg>Atg p.V284M NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 284 p.V284M(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) GGCAGCGGCACCTTCTCTGGA 0.567000 26 101 0 0 0.001061 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679106 37679106 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr13:37679106G>A ENST00000379800.3 - 1 697 c.288C>T c.(286-288)agC>agT p.S96S NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 96 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) GGTCTTCGAGGCTGGGTCCCA 0.453000 20 57 0 0 0.001216 0 0 MUC16 94025 broad.mit.edu 37 19 9071825 9071825 + Silent SNP T T G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:9071825T>G ENST00000397910.4 - 3 15824 c.15621A>C c.(15619-15621)acA>acC p.T5207T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5209 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 GTAGAAAACTTGTGTCCGTGG 0.458000 40 194 0 0 0.001287 0 0 OR7G3 390883 broad.mit.edu 37 19 9237431 9237431 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:9237431G>A ENST00000305444.2 - 1 195 c.196C>T c.(196-198)Ctg>Ttg p.L66L NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 ACCAAGGACAGGATAGAGAGG 0.552000 74 41 0 0 0.003610 0 0 CXorf22 170063 broad.mit.edu 37 X 35994002 35994002 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chrX:35994002G>A ENST00000297866.5 + 15 2751 c.2685G>A c.(2683-2685)ggG>ggA p.G895G NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 895 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 CAGGAAGAGGGATAGCATTTT 0.333000 51 13 0 0 0.003610 0 0 FCER1A 2205 broad.mit.edu 37 1 159273949 159273949 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:159273949C>T ENST00000368115.1 + 4 407 c.308C>T c.(307-309)cCt>cTt p.P103L FCER1A_ENST00000368114.1_Missense_Mutation_p.P70L NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 103 Ig-like 1. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GAGAGTGAACCTGTGTACCTG 0.393000 36 17 0 0 0.001706 0 0 GSS 2937 broad.mit.edu 37 20 33539633 33539633 + Missense_Mutation SNP A A G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:33539633A>G ENST00000216951.2 - 2 121 c.23T>C c.(22-24)cTc>cCc p.L8P GSS_ENST00000451957.2_Missense_Mutation_p.L8P NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 8 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) ATCCTGCAAGAGGCTCCCCCA 0.597000 17 27 0 0 0.004990 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473102 22473102 + RNA SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:22473102C>A ENST00000557788.2 - 0 168 GGCTGGCGGACCCAGCTCCAC 0.602000 61 187 1.12612e-26 2.58045e-26 0.003610 1 0 SLC12A5 57468 broad.mit.edu 37 20 44666019 44666019 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:44666019C>T ENST00000454036.1 + 6 752 c.676C>T c.(676-678)Ctg>Ttg p.L226L SLC12A5_ENST00000372315.1_Silent_p.L203L|SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.L203L NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 226 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CATCGAAATCCTGCTGGTAAG 0.577000 18 25 0 0 0.006122 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37419246 37419246 + Missense_Mutation SNP G G C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:37419246G>C ENST00000374660.1 + 3 381 c.282G>C c.(280-282)gaG>gaC p.E94D ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E94D|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E94D Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 150 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TTTATAGTGAGATTTTGTCAG 0.403000 8 26 0 0 0.003080 0 0 DENND4B 9909 broad.mit.edu 37 1 153907303 153907303 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:153907303C>T ENST00000361217.4 - 18 3124 c.2706G>A c.(2704-2706)caG>caA p.Q902Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 902 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgctgctgttgctgct 0.642000 7 75 0 0 0.001984 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453942 84453942 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr13:84453942C>T ENST00000377084.2 - 1 2586 c.1701G>A c.(1699-1701)aaG>aaA p.K567K NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 567 LRRCT 2. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GCATGAAATCCTTTCTAAAGA 0.527000 7 35 0 0 0.001984 0 0 GPR20 2843 broad.mit.edu 37 8 142367699 142367699 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:142367699G>A ENST00000377741.3 - 2 415 c.325C>T c.(325-327)Cgc>Tgc p.R109C NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 109 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) ACAGCGAAGCGCGTGGGCAGG 0.617000 25 41 0 0 0.002780 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503929 140503929 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:140503929G>A ENST00000194152.1 + 1 2349 c.2349G>A c.(2347-2349)aaG>aaA p.K783K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 783 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGAAGTTAAGGAAAACCCCA 0.448000 22 45 0 0 0.003954 0 0 RGPD4 285190 broad.mit.edu 37 2 108487225 108487225 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:108487225G>A ENST00000408999.3 + 20 2842 c.2765G>A c.(2764-2766)gGa>gAa p.G922E RGPD4_ENST00000354986.4_Missense_Mutation_p.G922E NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 922 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCTGCTGATGGATTTAAATTT 0.388000 77 98 0 0 0.003610 0 0 ARF5 381 broad.mit.edu 37 7 127229613 127229613 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:127229613C>T ENST00000000233.5 + 3 377 c.223C>T c.(223-225)Cgg>Tgg p.R75W GCC1_ENST00000497650.1_Intron|ARF5_ENST00000467281.1_3'UTR NM_001662.3 NP_001653.1 P84085 ARF5_HUMAN ADP-ribosylation factor 5 75 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding cervix(2)|kidney(1)|lung(10)|ovary(1) 14 GGACAAGATTCGGCCTCTGTG 0.488000 14 72 0 0 0.004990 0 0 DDO 8528 broad.mit.edu 37 6 110714493 110714493 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:110714493C>T ENST00000368924.3 - 5 610 c.595G>A c.(595-597)Gaa>Aaa p.E199K DDO_ENST00000368923.3_Missense_Mutation_p.E140K|DDO_ENST00000368925.1_Missense_Mutation_p.E171K NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 171 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) GGATGAAGTTCCCACAGGTCT 0.498000 48 47 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179604775 179604775 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:179604775C>T ENST00000589042.1 - 48 13409 c.13185G>A c.(13183-13185)ctG>ctA p.L4395L TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.L4078L|TTN_ENST00000342175.6_Silent_p.L4224L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Silent_p.L4032L|TTN_ENST00000359218.5_Silent_p.L4157L|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4078 Ig-like 24. 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) TTTGAATTTTCAGGTTTAATC 0.488000 35 34 0 0 0.003271 0 0 OR52B2 255725 broad.mit.edu 37 11 6191344 6191344 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:6191344C>T ENST00000530810.1 - 1 294 c.213G>A c.(211-213)atG>atA p.M71I RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGGATGTCCATGACGGCCA 0.493000 84 85 0 0 0.003610 0 0 ZCCHC3 85364 broad.mit.edu 37 20 279331 279331 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:279331G>A ENST00000382352.3 + 1 1595 c.1104G>A c.(1102-1104)cgG>cgA p.R368R NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 368 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CTTACTGCCGGAAGGGCATCG 0.617000 48 42 0 0 0.003610 0 0 ABHD2 11057 broad.mit.edu 37 15 89698640 89698640 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:89698640G>A ENST00000352732.5 + 5 933 c.413G>A c.(412-414)aGc>aAc p.S138N ABHD2_ENST00000355100.3_Missense_Mutation_p.S138N|ABHD2_ENST00000565973.1_Missense_Mutation_p.S138N NM_152924.4 NP_690888.1 P08910 ABHD2_HUMAN abhydrolase domain containing 2 138 integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1) 23 Lung NSC(78;0.0472)|all_lung(78;0.089) GCCAATCACAGCGAGAAGCAA 0.478000 40 54 0 0 0.003610 0 0 RPUSD4 84881 broad.mit.edu 37 11 126073509 126073509 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:126073509G>A ENST00000298317.4 - 7 991 c.938C>T c.(937-939)tCg>tTg p.S313L RPUSD4_ENST00000533628.1_Missense_Mutation_p.S282L NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 313 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) GCGGGCCTTCGACTGTTCTAG 0.577000 18 42 0 0 0.001216 0 0 PEAR1 375033 broad.mit.edu 37 1 156873814 156873814 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:156873814G>A ENST00000338302.3 + 3 321 c.96G>A c.(94-96)tgG>tgA p.W32* PEAR1_ENST00000292357.7_Nonsense_Mutation_p.W32* Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 32 EMI. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCAGCTTCTGGGAAAGGTGAG 0.592000 55 41 0 0 0.003610 0 0 OR4S2 219431 broad.mit.edu 37 11 55418383 55418383 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:55418383G>A ENST00000312422.2 + 1 4 c.4G>A c.(4-6)Gaa>Aaa p.E2K NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) CCATTCCATGGAAAAAATAAA 0.328000 21 43 0 0 0.002299 0 0 NUP98 4928 broad.mit.edu 37 11 3797138 3797138 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:3797138G>A ENST00000324932.7 - 5 889 c.469C>T c.(469-471)Cct>Tct p.P157S NUP98_ENST00000397004.4_Missense_Mutation_p.P157S|NUP98_ENST00000397007.4_Missense_Mutation_p.P157S|NUP98_ENST00000359171.4_Missense_Mutation_p.P157S|NUP98_ENST00000355260.3_Missense_Mutation_p.P157S NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 157 Gly/Thr-rich. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GTCCCAGTAGGAGCAGCTGTA 0.398000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 80 58 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179475004 179475004 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:179475004G>A ENST00000589042.1 - 271 51473 c.51249C>T c.(51247-51249)gtC>gtT p.V17083V TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.V15442V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.V8210V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V14515V|TTN_ENST00000460472.2_Silent_p.V8018V|TTN_ENST00000359218.5_Silent_p.V8143V|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15442 Ig-like 102. 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) TGCGCTCCAGGACATAATGAA 0.418000 77 109 0 0 0.003610 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67314416 67314416 + Silent SNP T T C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:67314416T>C ENST00000360461.5 + 1 3004 c.469T>C c.(469-471)Tta>Cta p.L157L PLEKHG4_ENST00000450733.1_Intron|PLEKHG4_ENST00000427155.2_Silent_p.L157L|PLEKHG4_ENST00000379344.3_Silent_p.L157L NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 157 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TGGAGACCCTTTATCAGAAAT 0.577000 33 72 0 0 0.003271 0 0 DBH 1621 broad.mit.edu 37 9 136501646 136501646 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr9:136501646C>T ENST00000393056.2 + 1 165 c.153C>T c.(151-153)atC>atT p.I51I NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 51 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) CCTATCACATCCCCCTGGACC 0.642000 19 7 0 0 0.006122 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28304486 28304486 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr21:28304486C>T ENST00000284987.5 - 6 2007 c.1886G>A c.(1885-1887)cGt>cAt p.R629H AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 629 Cys-rich. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CTGTTCATGACGAAATGATTT 0.373000 12 66 0 0 0.004007 0 0 TRIM7 81786 broad.mit.edu 37 5 180625727 180625727 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:180625727C>T ENST00000393315.1 - 5 1024 c.327G>A c.(325-327)aaG>aaA p.K109K TRIM7_ENST00000361809.3_Silent_p.K109K|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393319.3_Silent_p.K135K|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000422067.2_Silent_p.K109K|TRIM7_ENST00000274773.7_Silent_p.K317K|CTC-338M12.6_ENST00000509080.1_RNA NM_203296.1 NP_976041.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 317 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) AGACAAAGGTCTTGAGAGAAA 0.527000 11 27 0 0 0.000978 0 0 SNAP91 9892 broad.mit.edu 37 6 84291985 84291985 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:84291985C>T ENST00000428679.2 - 23 2698 c.2105G>A c.(2104-2106)gGg>gAg p.G702E SNAP91_ENST00000520302.1_Missense_Mutation_p.G672E|SNAP91_ENST00000521485.1_Missense_Mutation_p.G702E|SNAP91_ENST00000521743.1_Missense_Mutation_p.G702E|SNAP91_ENST00000520213.1_Missense_Mutation_p.G395E|SNAP91_ENST00000437520.1_Missense_Mutation_p.G395E|SNAP91_ENST00000369694.2_Missense_Mutation_p.G702E|SNAP91_ENST00000439399.2_Missense_Mutation_p.G702E|SNAP91_ENST00000195649.6_Missense_Mutation_p.G702E O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 702 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) AGGCGTTGTCCCAAAAGCTGC 0.453000 28 27 0 0 0.001271 0 0 DSCAM 1826 broad.mit.edu 37 21 41450723 41450723 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr21:41450723G>A ENST00000400454.1 - 26 5079 c.4602C>T c.(4600-4602)atC>atT p.I1534I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1534 Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGTCATACAGGATGTAGGACT 0.582000 29 26 0 0 0.001786 0 0 ALG10B 144245 broad.mit.edu 37 12 38715009 38715009 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:38715009G>A ENST00000308742.4 + 3 1732 c.1416G>A c.(1414-1416)atG>atA p.M472I ALG10B_ENST00000551464.1_Intron NM_001013620.3 NP_001013642.1 Q5I7T1 AG10B_HUMAN ALG10B, alpha-1,2-glucosyltransferase 472 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) AAAGGTTTATGTGGTAATATC 0.308000 65 34 0 0 0.003610 0 0 KCNH1 3756 broad.mit.edu 37 1 210970930 210970930 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:210970930C>T ENST00000367007.4 - 9 1923 c.1754G>A c.(1753-1755)gGa>gAa p.G585E KCNH1_ENST00000271751.4_Missense_Mutation_p.G612E NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 612 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AACGCTCTCTCCTGCATGGTA 0.607000 42 30 0 0 0.001485 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672000 4 74 0 0 0.001984 0 0 KMT2A 4297 broad.mit.edu 37 11 118372446 118372446 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:118372446C>T ENST00000534358.1 + 26 6402 c.6379C>T c.(6379-6381)Cga>Tga p.R2127* KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R2124*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R2086* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A ATCACCAGACCGACCTCCTCA 0.428000 34 70 0 0 0.004878 0 0 TTN 7273 broad.mit.edu 37 2 179454707 179454707 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:179454707G>A ENST00000589042.1 - 304 61969 c.61745C>T c.(61744-61746)aCc>aTc p.T20582I TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T18941I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11709I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T18014I|TTN_ENST00000460472.2_Missense_Mutation_p.T11517I|TTN_ENST00000359218.5_Missense_Mutation_p.T11642I|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18941 Fibronectin type-III 49. 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) GTTCTCTTTGGTTACATTGGT 0.433000 25 30 0 0 0.003954 0 0 DSCAM 1826 broad.mit.edu 37 21 41550861 41550861 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr21:41550861G>A ENST00000400454.1 - 15 3417 c.2940C>T c.(2938-2940)gaC>gaT p.D980D NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 980 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.D980D(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TACCTGCCTCGTCCGCCGTGA 0.587000 37 22 0 0 0.005524 0 0 NR2E1 7101 broad.mit.edu 37 6 108502054 108502054 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:108502054C>T ENST00000368986.4 + 7 1491 c.783C>T c.(781-783)atC>atT p.I261I NR2E1_ENST00000368983.3_Silent_p.I298I NM_003269.3 NP_003260.1 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 261 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) TGAACAAGATCATATCTGAAA 0.373000 43 24 0 0 0.002222 0 0 SLC5A12 159963 broad.mit.edu 37 11 26743064 26743064 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:26743064C>T ENST00000396005.3 - 1 507 c.198G>A c.(196-198)acG>acA p.T66T SLC5A12_ENST00000280467.6_Silent_p.T66T NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 66 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TCCCCAGGACCGTGACAGCTG 0.512000 34 29 0 0 0.003271 0 0 DGKZ 8525 broad.mit.edu 37 11 46400584 46400584 + Missense_Mutation SNP A A G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:46400584A>G ENST00000454345.1 + 29 3151 c.3026A>G c.(3025-3027)gAc>gGc p.D1009G DGKZ_ENST00000343674.6_Missense_Mutation_p.D837G|DGKZ_ENST00000456247.2_Missense_Mutation_p.D820G|DGKZ_ENST00000527911.1_Missense_Mutation_p.D821G|DGKZ_ENST00000528615.1_Missense_Mutation_p.D599G|DGKZ_ENST00000318201.8_Missense_Mutation_p.D798G|DGKZ_ENST00000395574.3_Missense_Mutation_p.D787G|DGKZ_ENST00000421244.2_Missense_Mutation_p.D821G|DGKZ_ENST00000543978.1_Missense_Mutation_p.D173G|DGKZ_ENST00000532868.2_Missense_Mutation_p.D825G NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 1009 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) ATGCACCGAGACGAGCAGAGT 0.682000 10 7 0 0 0.000443 0 0 IGSF22 283284 broad.mit.edu 37 11 18735421 18735421 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:18735421G>A ENST00000513874.1 - 14 2212 c.2073C>T c.(2071-2073)gcC>gcT p.A691A RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 691 Ig-like 4. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 GGTGCAGAGTGGCCGTGGCTG 0.637000 12 20 0 0 0.000978 0 0 SYTL2 54843 broad.mit.edu 37 11 85436334 85436334 + Missense_Mutation SNP A A C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:85436334A>C ENST00000359152.5 - 1 2737 c.2738T>G c.(2737-2739)gTa>gGa p.V913G SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.V389G|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.V389G NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 0 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GACTTTCTCTACAGTCTCCGA 0.478000 16 35 0 0 0.000958 0 0 ANKRD55 79722 broad.mit.edu 37 5 55407474 55407474 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:55407474C>T ENST00000341048.4 - 10 1252 c.1101G>A c.(1099-1101)agG>agA p.R367R ANKRD55_ENST00000434982.2_Silent_p.R79R|ANKRD55_ENST00000504958.2_Silent_p.R324R|ANKRD55_ENST00000505970.2_5'UTR NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 366 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TGTATCGGTCCCTGCTGGGAT 0.507000 86 124 0 0 0.003610 0 0 BMS1 9790 broad.mit.edu 37 10 43293981 43293981 + Missense_Mutation SNP A A G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:43293981A>G ENST00000374518.4 + 12 2218 c.2155A>G c.(2155-2157)Aac>Gac p.N719D NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 719 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GTTTCGTGTCAACCAGCCTGA 0.463000 83 16 0 0 0.003610 0 0 RBM48 84060 broad.mit.edu 37 7 92161833 92161833 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:92161833G>A ENST00000481551.1 + 3 459 c.418G>A c.(418-420)Gca>Aca p.A140T RBM48_ENST00000265732.5_Missense_Mutation_p.A140T Q5RL73 CG064_HUMAN RNA binding motif protein 48 140 nucleotide binding AATGCGGAAGGCATATGTAGT 0.393000 8 45 0 0 0.003080 0 0 OR52K1 390036 broad.mit.edu 37 11 4510460 4510460 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:4510460C>T ENST00000307632.3 + 1 352 c.330C>T c.(328-330)tcC>tcT p.S110S NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) ACTCCTTCTCCATCATGGAGT 0.527000 21 18 0 0 0.001523 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780678 106780678 + RNA SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:106780678C>T ENST00000390612.2 - 0 257 CCAGTCCCTTCCCTGGGGGCT 0.562000 22 116 0 0 0.001882 0 0 CLSTN2 64084 broad.mit.edu 37 3 140123409 140123409 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr3:140123409C>T ENST00000458420.3 + 4 628 c.438C>T c.(436-438)gtC>gtT p.V146V NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 146 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGGCCGTGGTCCATATACAGG 0.537000 HNSCC(16;0.037) 51 5 0 0 0.003610 0 0 UGT1A6 54578 broad.mit.edu 37 2 234681148 234681148 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:234681148G>A ENST00000305139.6 + 5 1681 c.1542G>A c.(1540-1542)cgG>cgA p.R514R UGT1A4_ENST00000373409.3_Silent_p.R516R|UGT1A3_ENST00000482026.1_Silent_p.R516R|UGT1A5_ENST00000373414.3_Silent_p.R516R|UGT1A6_ENST00000373424.1_Silent_p.R247R|UGT1A7_ENST00000373426.3_Silent_p.R512R|UGT1A8_ENST00000373450.4_Silent_p.R512R|UGT1A9_ENST00000354728.4_Silent_p.R512R|UGT1A10_ENST00000344644.5_Silent_p.R512R|UGT1A1_ENST00000305208.5_Silent_p.R515R NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) ATGGCTACCGGAAATGCTTGG 0.468000 26 23 0 0 0.004656 0 0 SDK2 54549 broad.mit.edu 37 17 71419607 71419607 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:71419607C>T ENST00000392650.3 - 14 1815 c.1815G>A c.(1813-1815)agG>agA p.R605R SDK2_ENST00000388726.3_Silent_p.R605R NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 605 Fibronectin type-III 1. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGATGGCTCGCCTTTCCACGG 0.597000 4 39 0 0 0.000248 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16056311 16056311 + Missense_Mutation SNP A A G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:16056311A>G ENST00000375799.3 + 14 2322 c.2095A>G c.(2095-2097)Aag>Gag p.K699E PLEKHM2_ENST00000375793.2_Missense_Mutation_p.K679E|RP11-288I21.1_ENST00000453804.1_RNA NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 699 Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GGCTTCTTTGAAGTCAGCCAT 0.547000 11 62 0 0 0.001368 0 0 INPPL1 3636 broad.mit.edu 37 11 71941854 71941854 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:71941854C>T ENST00000541756.1 + 11 1416 c.486C>T c.(484-486)ttC>ttT p.F162F INPPL1_ENST00000538751.1_Silent_p.F162F|INPPL1_ENST00000298229.2_Silent_p.F404F O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 404 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GGGAGGCCTTCTGCCAGCTGT 0.617000 15 20 0 0 0.003163 0 0 MAT2A 4144 broad.mit.edu 37 2 85769831 85769831 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:85769831C>T ENST00000306434.3 + 7 1035 c.912C>T c.(910-912)tcC>tcT p.S304S MAT2A_ENST00000409017.1_Silent_p.S241S NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 304 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TGGCAAAATCCCTTGTTAAAG 0.468000 27 22 0 0 0.005443 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570154 47570154 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:47570154C>T ENST00000253048.5 - 15 3408 c.3371G>A c.(3370-3372)cGc>cAc p.R1124H ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1124 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CGCCAGCACGCGGGGGTCGTA 0.746000 4 24 0 0 0.000602 0 0 OR10J5 127385 broad.mit.edu 37 1 159505705 159505705 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:159505705G>A ENST00000334857.2 - 1 137 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) AGACAGTTAGGAAAACCACAA 0.378000 41 31 0 0 0.001485 0 0 TNP2 7142 broad.mit.edu 37 16 11362754 11362754 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:11362754G>A ENST00000312693.3 - 1 435 c.366C>T c.(364-366)atC>atT p.I122I RMI2_ENST00000572173.1_Intron NM_005425.4 NP_005416.1 Q05952 STP2_HUMAN transition protein 2 (during histone to protamine replacement) 122 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 ACACCTGCTGGATCCTCTTGG 0.562000 20 26 0 0 0.001882 0 0 TTN 7273 broad.mit.edu 37 2 179635022 179635022 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:179635022C>T ENST00000589042.1 - 36 8630 c.8406G>A c.(8404-8406)aaG>aaA p.K2802K TTN_ENST00000360870.5_Silent_p.K2802K|TTN_ENST00000591111.1_Silent_p.K2802K|TTN_ENST00000342175.6_Silent_p.K2756K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.K2802K|TTN_ENST00000460472.2_Silent_p.K2756K|TTN_ENST00000359218.5_Silent_p.K2756K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2540 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) CTGTCACATCCTTTGGCTTTT 0.403000 34 65 0 0 0.004289 0 0 FRMPD2 143162 broad.mit.edu 37 10 49430399 49430399 + Missense_Mutation SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:49430399C>A ENST00000374201.3 - 12 1714 c.1412G>T c.(1411-1413)gGg>gTg p.G471V FRMPD2_ENST00000407470.4_Missense_Mutation_p.G440V|FRMPD2_ENST00000305531.3_Missense_Mutation_p.G447V NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 471 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GGCAAGGACCCCCAGCTGCAG 0.532000 6 133 0.00116845 0.00259908 0.001168 1 0 GABRB2 2561 broad.mit.edu 37 5 160721238 160721238 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:160721238C>T ENST00000274547.2 - 11 1606 c.1389G>A c.(1387-1389)aaG>aaA p.K463K GABRB2_ENST00000520240.1_Silent_p.K425K|GABRB2_ENST00000517547.1_Silent_p.K265K|GABRB2_ENST00000353437.6_Silent_p.K425K|GABRB2_ENST00000517901.1_Silent_p.K362K|GABRB2_ENST00000393959.1_Silent_p.K463K NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 463 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGCGACTTTTCTTTTGCGCCA 0.522000 10 30 0 0 0.000443 0 0 PTPRT 11122 broad.mit.edu 37 20 40827886 40827886 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:40827886C>T ENST00000373198.3 - 17 2786 c.2551G>A c.(2551-2553)Gga>Aga p.G851R PTPRT_ENST00000373187.1_Missense_Mutation_p.G829R|PTPRT_ENST00000373190.1_Missense_Mutation_p.G829R|PTPRT_ENST00000373193.3_Missense_Mutation_p.G832R|PTPRT_ENST00000373201.1_Missense_Mutation_p.G819R|PTPRT_ENST00000356100.2_Missense_Mutation_p.G838R|PTPRT_ENST00000373184.1_Missense_Mutation_p.G819R NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 829 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) TTACTGAATCCGTTGACGTCC 0.567000 229 339 0 0 0.003610 0 0 OPCML 4978 broad.mit.edu 37 11 132306020 132306020 + Silent SNP C C T rs150470513 TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:132306020C>T ENST00000331898.7 - 6 1475 c.897G>A c.(895-897)acG>acA p.T299T OPCML_ENST00000541867.1_Silent_p.T299T|OPCML_ENST00000524381.1_Silent_p.T292T|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Silent_p.T258T NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 299 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CAAGCTTGTTCGTGGCCACAC 0.488000 33 25 0 0 0.003755 0 0 AKAP3 10566 broad.mit.edu 37 12 4737278 4737278 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:4737278C>T ENST00000545990.2 - 5 1314 c.790G>A c.(790-792)Gag>Aag p.E264K AKAP3_ENST00000228850.1_Missense_Mutation_p.E264K NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 264 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 CTCTTTCTCTCCCGAGGAAAG 0.443000 12 54 0 0 0.000978 0 0 CLGN 1047 broad.mit.edu 37 4 141315179 141315179 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr4:141315179C>T ENST00000325617.5 - 11 1606 c.1166G>A c.(1165-1167)cGa>cAa p.R389Q CLGN_ENST00000537281.1_Missense_Mutation_p.R389Q|CLGN_ENST00000414773.1_Missense_Mutation_p.R389Q NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 389 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) AGGAATTTTTCGAGGACTCCA 0.343000 9 28 0 0 0.000673 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722674 58722674 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:58722674G>A ENST00000300079.5 + 6 482 c.432G>A c.(430-432)ggG>ggA p.G144G GLYATL1_ENST00000317391.4_Silent_p.G113G|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 113 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) TAGGTGAGGGGATAAGAGTGG 0.428000 34 56 0 0 0.003755 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 68 26 0 0 0.003610 0 0 F8 2157 broad.mit.edu 37 X 154157053 154157053 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chrX:154157053C>T ENST00000360256.4 - 14 5212 c.5012G>A c.(5011-5013)cGt>cAt p.R1671H NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1671 acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAGAGTAGTACGAGTTATTTC 0.408000 48 7 0 0 0.003610 0 0 PTPRT 11122 broad.mit.edu 37 20 40827885 40827885 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:40827885C>T ENST00000373198.3 - 17 2787 c.2552G>A c.(2551-2553)gGa>gAa p.G851E PTPRT_ENST00000373187.1_Missense_Mutation_p.G829E|PTPRT_ENST00000373190.1_Missense_Mutation_p.G829E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G832E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G819E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G838E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G819E NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 829 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) CTTACTGAATCCGTTGACGTC 0.562000 231 340 0 0 0.003610 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87448144 87448144 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:87448144C>T ENST00000268616.4 - 10 1285 c.1068G>A c.(1066-1068)gaG>gaA p.E356E NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 356 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) TCTCTGACTTCTCCCTGTGAA 0.632000 13 17 0 0 0.002450 0 0 KMT2B 9757 broad.mit.edu 37 19 36223707 36223707 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:36223707C>T ENST00000222270.7 + 28 6257 c.6257C>T c.(6256-6258)tCg>tTg p.S2086L WBP7_ENST00000420124.1_Missense_Mutation_p.S2086L|KMT2B_ENST00000607650.1_RNA NM_014727.1 NP_055542.1 ACGCCTCCTTCGGGGCCAGGA 0.672000 4 13 0 0 0.000602 0 0 DPP8 54878 broad.mit.edu 37 15 65756209 65756209 + Missense_Mutation SNP A A C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:65756209A>C ENST00000341861.5 - 15 3489 c.1909T>G c.(1909-1911)Tct>Gct p.S637A DPP8_ENST00000559233.1_Missense_Mutation_p.S637A|DPP8_ENST00000321147.6_Missense_Mutation_p.S637A|DPP8_ENST00000321118.7_Missense_Mutation_p.S637A|DPP8_ENST00000300141.6_Missense_Mutation_p.S621A|DPP8_ENST00000358939.4_Missense_Mutation_p.S621A|DPP8_ENST00000339244.5_Missense_Mutation_p.S464A NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 637 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTTTCAAAAGAGAAAATTTCT 0.398000 23 25 0 0 0.003330 0 0 ZNF646 9726 broad.mit.edu 37 16 31090737 31090737 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:31090737C>T ENST00000394979.2 + 1 3515 c.3092C>T c.(3091-3093)cCc>cTc p.P1031L ZNF646_ENST00000300850.5_Missense_Mutation_p.P1031L O15015 ZN646_HUMAN zinc finger protein 646 1031 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GCAGGCACCCCCTTGGGAGAC 0.587000 50 96 0 0 0.003610 0 0 GXYLT2 727936 broad.mit.edu 37 3 73024140 73024140 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr3:73024140G>A ENST00000389617.4 + 7 1323 c.1162G>A c.(1162-1164)Gac>Aac p.D388N NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 388 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 TCCCTTTCAAGACAATCTCTT 0.348000 79 32 0 0 0.003610 0 0 VPS13B 157680 broad.mit.edu 37 8 100479687 100479687 + Missense_Mutation SNP A A G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:100479687A>G ENST00000395996.1 + 24 3602 c.3491A>G c.(3490-3492)tAt>tGt p.Y1164C VPS13B_ENST00000357162.2_Missense_Mutation_p.Y1164C|VPS13B_ENST00000358544.2_Missense_Mutation_p.Y1164C Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1164 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTCAGCATATATACCCTTCTT 0.428000 58 152 0 0 0.003610 0 0 COL11A1 1301 broad.mit.edu 37 1 103348859 103348859 + Missense_Mutation SNP A A G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:103348859A>G ENST00000358392.2 - 64 5220 c.4903T>C c.(4903-4905)Tgg>Cgg p.W1635R COL11A1_ENST00000353414.4_Missense_Mutation_p.W1584R|COL11A1_ENST00000370096.3_Missense_Mutation_p.W1623R|COL11A1_ENST00000512756.1_Missense_Mutation_p.W1507R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1623 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGATCAATCCAATATTCACCT 0.323000 35 8 0 0 0.004878 0 0 MAP3K10 4294 broad.mit.edu 37 19 40715123 40715123 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:40715123C>T ENST00000253055.3 + 6 1837 c.1549C>T c.(1549-1551)Cgc>Tgc p.R517C NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 517 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GAGGGCCATTCGCCGTGAGTA 0.557000 11 78 0 0 0.000673 0 0 SLC6A3 6531 broad.mit.edu 37 5 1403158 1403158 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:1403158C>T ENST00000270349.9 - 13 1773 c.1646G>A c.(1645-1647)gGa>gAa p.G549E SLC6A3_ENST00000453492.2_Missense_Mutation_p.G549E NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 549 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GATGTAGGCTCCGTAGTGGGG 0.622000 15 19 0 0 0.004007 0 0 ZFPL1 7542 broad.mit.edu 37 11 64854200 64854200 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:64854200G>A ENST00000294258.3 + 5 569 c.417G>A c.(415-417)gaG>gaA p.E139E NM_006782.3 NP_006773.2 O95159 ZFPL1_HUMAN zinc finger protein-like 1 139 regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 AGATCGATGAGGTGGTGAGCC 0.562000 35 52 0 0 0.004878 0 0 FOXR1 283150 broad.mit.edu 37 11 118850239 118850239 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:118850239C>T ENST00000317011.3 + 4 697 c.472C>T c.(472-474)Cgg>Tgg p.R158W NM_181721.2 NP_859072.1 Q6PIV2 FOXR1_HUMAN forkhead box R1 158 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) CCTCCAGAGTCGGAGGCTTCG 0.602000 34 51 0 0 0.002445 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141493 143141493 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:143141493G>A ENST00000332690.1 + 1 948 c.948G>A c.(946-948)ggG>ggA p.G316G EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 316 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CAAGGTGTGGGACACCTTGAG 0.483000 16 112 0 0 0.006122 0 0 SLC7A2 6542 broad.mit.edu 37 8 17401060 17401060 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:17401060C>T ENST00000470360.1 + 4 449 c.332C>T c.(331-333)tCc>tTc p.S111F SLC7A2_ENST00000494857.1_Missense_Mutation_p.S71F|SLC7A2_ENST00000522656.1_Missense_Mutation_p.S71F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S111F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.S111F P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 71 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) ATCGTGGTGTCCTTCCTCATT 0.612000 20 27 0 0 0.001216 0 0 ZNF713 349075 broad.mit.edu 37 7 56006850 56006850 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:56006850G>A ENST00000429591.2 + 4 482 c.444G>A c.(442-444)aaG>aaA p.K148K MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AAAACCACAAGAGATATTTAG 0.408000 6 28 0 0 0.001168 0 0 RGS18 64407 broad.mit.edu 37 1 192153620 192153620 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:192153620G>A ENST00000367460.3 + 5 825 c.644G>A c.(643-645)cGa>cAa p.R215Q NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 215 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTTAGGAGACGATCACGCTCA 0.358000 8 27 0 0 0.003080 0 0 FTMT 94033 broad.mit.edu 37 5 121187736 121187736 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:121187736C>T ENST00000321339.1 + 1 87 c.78C>T c.(76-78)ttC>ttT p.F26F NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 26 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) GCTGCTGCTTCGCGCTCCCGC 0.741000 10 14 0 0 0.000443 0 0 PSG4 5672 broad.mit.edu 37 19 43698609 43698609 + Missense_Mutation SNP C C T rs150596916 by1000genomes TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:43698609C>T ENST00000405312.3 - 5 1363 c.1126G>A c.(1126-1128)Gga>Aga p.G376R PSG4_ENST00000433626.2_Missense_Mutation_p.G283R|PSG4_ENST00000244295.9_Missense_Mutation_p.G283R NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 376 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) AGCTTTTGTCCTGATAGCTGA 0.458000 160 71 0 0 0.003610 0 0 FFAR4 338557 broad.mit.edu 37 10 95347060 95347060 + Missense_Mutation SNP C C G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:95347060C>G ENST00000371483.4 + 4 884 c.828C>G c.(826-828)ttC>ttG p.F276L FFAR4_ENST00000371481.4_Missense_Mutation_p.F260L|FFAR4_ENST00000604414.1_Intron NM_181745.3 NP_859529.2 free fatty acid receptor 4 AGCAGGACTTCCGGCTCTTCC 0.547000 96 13 0 0 0.003610 0 0 COL7A1 1294 broad.mit.edu 37 3 48626838 48626838 + Missense_Mutation SNP C C G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr3:48626838C>G ENST00000328333.8 - 17 2343 c.2236G>C c.(2236-2238)Gat>Cat p.D746H COL7A1_ENST00000454817.1_Missense_Mutation_p.D746H NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 746 Fibronectin type-III 6.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TACTCAGTATCTGGCTCCAGT 0.622000 6 51 0 0 0.001984 0 0 CFHR3 10878 broad.mit.edu 37 1 196749096 196749096 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:196749096C>T ENST00000471440.2 + 3 497 c.423C>T c.(421-423)atC>atT p.I141I CFHR3_ENST00000391985.3_Silent_p.I141I|CFHR3_ENST00000367425.4_Silent_p.I141I complement factor H-related 3 p.I141I(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 CCAGATGCATCCGTGTCAGTA 0.483000 24 26 0 0 0.001061 0 0 CSPG5 10675 broad.mit.edu 37 3 47618694 47618694 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr3:47618694G>A ENST00000383738.2 - 2 2920 c.822C>T c.(820-822)gaC>gaT p.D274D CSPG5_ENST00000456150.1_Silent_p.D136D|CSPG5_ENST00000264723.4_Silent_p.D274D NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 274 Interaction with TNC and TNR (By similarity). cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) cttcatccAAGTCATCATAAA 0.493000 11 1 0 0 0.000978 0 0 CACNA1E 777 broad.mit.edu 37 1 181726222 181726222 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:181726222G>A ENST00000526775.1 + 29 4397 c.4232G>A c.(4231-4233)gGg>gAg p.G1411E CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1430E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1037E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1362E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1411E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1381E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1430E NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1430 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 CAGGAGCAAGGGGATAAGATG 0.458000 28 24 0 0 0.001061 0 0 ZNF131 7690 broad.mit.edu 37 5 43174852 43174852 + Missense_Mutation SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:43174852C>A ENST00000509634.1 + 7 1843 c.1387C>A c.(1387-1389)Caa>Aaa p.Q463K ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.Q497K|ZNF131_ENST00000505606.2_Missense_Mutation_p.Q463K|ZNF131_ENST00000306938.4_Missense_Mutation_p.Q463K|ZNF131_ENST00000509156.1_Missense_Mutation_p.Q497K P52739 ZN131_HUMAN zinc finger protein 131 497 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 GACTGTGGAACAAGTCCATCC 0.478000 9 31 3.09899e-07 6.94416e-07 0.004482 1 0 OR5D14 219436 broad.mit.edu 37 11 55563503 55563503 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:55563503C>T ENST00000335605.1 + 1 472 c.472C>T c.(472-474)Ccc>Tcc p.P158S NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) CATGTTTGGCCCCTTGGTACT 0.493000 48 102 0 0 0.003610 0 0 MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G rs138128932 by1000genomes TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr18:47363917A>G ENST00000285039.7 - 37 5407 c.5108T>C c.(5107-5109)gTc>gCc p.V1703A SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1703 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.V1703A(5) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCAAGAGCAGACGTCCTTCCG 0.527000 5 47 0 0 0.000443 0 0 SFTPB 6439 broad.mit.edu 37 2 85892780 85892780 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:85892780G>A ENST00000342375.3 - 6 666 c.531C>T c.(529-531)gtC>gtT p.V177V SFTPB_ENST00000409383.1_Silent_p.V189V|SFTPB_ENST00000519937.2_Silent_p.V177V|SFTPB_ENST00000393822.3_Silent_p.V189V NM_000542.3|NM_198843.2 NP_000533.3|NP_942140.2 P07988 PSPB_HUMAN surfactant protein B 177 organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome p.V177V(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 GCACAGGGAGGACGAGCTTGT 0.667000 41 48 0 0 0.003610 0 0 SF3B2 10992 broad.mit.edu 37 11 65824394 65824394 + Missense_Mutation SNP A A G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:65824394A>G ENST00000528302.1 + 5 638 c.584A>G c.(583-585)cAg>cGg p.Q195R SF3B2_ENST00000322535.6_Missense_Mutation_p.Q212R Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 212 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 GACATGGGCCAGATTGGTGTG 0.557000 26 39 0 0 0.003330 0 0 OC90 729330 broad.mit.edu 37 8 133045342 133045342 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:133045342G>A ENST00000262283.5 - 15 1538 c.1439C>T c.(1438-1440)tCt>tTt p.S480F OC90_ENST00000603859.1_Missense_Mutation_p.S268F|OC90_ENST00000443356.2_Missense_Mutation_p.S284F|OC90_ENST00000254627.3_Missense_Mutation_p.S268F Q02509 OC90_HUMAN otoconin 90 284 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CAGCCCCAGAGATTTAATGCC 0.453000 5 11 0 0 0.000602 0 0 CEP97 79598 broad.mit.edu 37 3 101483760 101483760 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr3:101483760C>T ENST00000341893.3 + 11 2715 c.1963C>T c.(1963-1965)Cct>Tct p.P655S CEP97_ENST00000494050.1_Missense_Mutation_p.P596S|CEP97_ENST00000327230.4_Missense_Mutation_p.P681S Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 655 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 TGATGTTCCTCCTATATCAAG 0.408000 58 11 0 0 0.003610 0 0 SNX27 81609 broad.mit.edu 37 1 151641027 151641027 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:151641027G>A ENST00000368843.3 + 7 1185 c.1065G>A c.(1063-1065)ttG>ttA p.L355L SNX27_ENST00000368838.1_Silent_p.L262L|SNX27_ENST00000458013.2_Silent_p.L355L|SNX27_ENST00000482791.1_3'UTR NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 355 Ras-associating. cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GCACCTGCTTGACCATTCGAA 0.383000 50 36 0 0 0.003610 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106405666 106405666 + RNA SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:106405666G>A ENST00000390593.2 - 0 359 CAGCTGCAGGGAGAACTGGTT 0.493000 101 43 0 0 0.003610 0 0 OR6C74 254783 broad.mit.edu 37 12 55641850 55641850 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:55641850C>T ENST00000343870.4 + 1 869 c.779C>T c.(778-780)cCc>cTc p.P260L NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TATGTGAAACCCTCAGCAAAA 0.403000 38 31 0 0 0.001287 0 0 OR5B3 441608 broad.mit.edu 37 11 58170180 58170180 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:58170180G>A ENST00000309403.2 - 1 702 c.703C>T c.(703-705)Cct>Tct p.P235S NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) GTGGACAAAGGCTTCTGGTAT 0.423000 19 40 0 0 0.006122 0 0 FAM47C 442444 broad.mit.edu 37 X 37026916 37026916 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chrX:37026916C>T ENST00000358047.3 + 1 485 c.433C>T c.(433-435)Ctc>Ttc p.L145F NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 145 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GCCTCCAGATCTCCTACTACA 0.577000 36 11 0 0 0.003755 0 0 AADACL3 126767 broad.mit.edu 37 1 12785954 12785954 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:12785954G>A ENST00000332530.3 + 3 1060 c.834G>A c.(832-834)aaG>aaA p.K278K AADACL3_ENST00000359318.5_Silent_p.K348K NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 348 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) AATTTGTAAAGGGACTGTGAC 0.493000 11 31 0 0 0.001368 0 0 SERPINA1 5265 broad.mit.edu 37 14 94844815 94844815 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:94844815C>T ENST00000448921.1 - 7 1800 c.1228G>A c.(1228-1230)Gga>Aga p.G410R SERPINA1_ENST00000449399.3_Missense_Mutation_p.G410R|SERPINA1_ENST00000440909.1_Missense_Mutation_p.G410R|SERPINA1_ENST00000393088.4_Missense_Mutation_p.G410R|SERPINA1_ENST00000355814.4_Missense_Mutation_p.G410R|SERPINA1_ENST00000393087.4_Missense_Mutation_p.G410R|SERPINA1_ENST00000437397.1_Missense_Mutation_p.G410R|SERPINA1_ENST00000404814.4_Missense_Mutation_p.G410R NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 410 G -> L (in Ref. 24; AA sequence). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) ACCACTTTTCCCATGAAGAGG 0.493000 78 49 0 0 0.003610 0 0 C2orf49 79074 broad.mit.edu 37 2 105959566 105959566 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:105959566C>T ENST00000258457.2 + 3 757 c.528C>T c.(526-528)gaC>gaT p.D176D C2orf49_ENST00000410049.1_Silent_p.D134D|C2orf49_ENST00000437250.2_Silent_p.D172D Q9BVC5 ASHWN_HUMAN chromosome 2 open reading frame 49 176 tRNA-splicing ligase complex endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 AGAACCATGACTTAACGCATA 0.428000 28 23 0 0 0.001061 0 0 ANLN 54443 broad.mit.edu 37 7 36450695 36450695 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:36450695C>T ENST00000265748.2 + 7 1536 c.1315C>T c.(1315-1317)Cgt>Tgt p.R439C ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.R439C NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 439 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 AGCATGTCTTCGTGGCCGATT 0.368000 7 37 0 0 0.000443 0 0 RFX6 222546 broad.mit.edu 37 6 117237424 117237424 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:117237424G>A ENST00000332958.2 + 9 935 c.919G>A c.(919-921)Gaa>Aaa p.E307K RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 307 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TCCCCTGCTCGAAAATCCTGT 0.343000 49 36 0 0 0.003610 0 0 TEX11 56159 broad.mit.edu 37 X 69843814 69843814 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chrX:69843814C>T ENST00000395889.2 - 21 1937 c.1782G>A c.(1780-1782)ccG>ccA p.P594P TEX11_ENST00000374320.2_Silent_p.P269P|TEX11_ENST00000374333.2_Silent_p.P579P|TEX11_ENST00000344304.3_Silent_p.P594P NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 594 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) CTTCAGATTCCGGCATTTCAG 0.303000 34 7 0 0 0.004289 0 0 PAPLN 89932 broad.mit.edu 37 14 73731022 73731022 + Missense_Mutation SNP A A C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:73731022A>C ENST00000427855.1 + 21 3067 c.2965A>C c.(2965-2967)Aag>Cag p.K989Q PAPLN_ENST00000555445.1_Missense_Mutation_p.K973Q|PAPLN_ENST00000554301.1_Missense_Mutation_p.K989Q|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000340738.5_Missense_Mutation_p.K962Q|PAPLN_ENST00000381166.3_Missense_Mutation_p.K989Q O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 989 Ig-like C2-type 1. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CGACTCCCAGAAGATCCAACT 0.657000 37 28 0 0 0.001287 0 0 CKAP2L 150468 broad.mit.edu 37 2 113496483 113496483 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:113496483C>T ENST00000541405.1 - 9 2183 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K CKAP2L_ENST00000302450.6_Missense_Mutation_p.E719K|NT5DC4_ENST00000327581.4_Intron Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 719 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TCTTCCACTTCTAACAGTTCA 0.438000 49 84 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179396515 179396515 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:179396515G>A ENST00000589042.1 - 358 105051 c.104827C>T c.(104827-104829)Cga>Tga p.R34943* TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R33302*|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R26070*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R32375*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R25878*|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R26003*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33302 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) AGTGTGATTCGAGGGGCATGG 0.438000 29 41 0 0 0.001271 0 0 PRMT5 10419 broad.mit.edu 37 14 23393227 23393227 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:23393227G>A ENST00000324366.8 - 12 1588 c.1365C>T c.(1363-1365)caC>caT p.H455H PRMT5_ENST00000553897.1_Silent_p.H411H|PRMT5_ENST00000397441.2_Silent_p.H438H|PRMT5_ENST00000397440.4_Silent_p.H284H|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Silent_p.H349H|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000216350.8_Silent_p.H394H|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000599580.1_RNA NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 455 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) CTTTTAGGAAGTGCTGGGCTC 0.547000 34 168 0 0 0.003214 0 0 TAZ 6901 broad.mit.edu 37 X 153649022 153649022 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chrX:153649022C>T ENST00000299328.5 + 10 1014 c.725C>T c.(724-726)cCc>cTc p.P242L TAZ_ENST00000369790.4_Missense_Mutation_p.P198L|TAZ_ENST00000350743.4_Missense_Mutation_p.P212L|TAZ_ENST00000351413.4_Missense_Mutation_p.P228L|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000369776.4_Missense_Mutation_p.P212L NM_000116.3 NP_000107.1 Q16635 TAZ_HUMAN tafazzin 242 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATCGGGAAGCCCTTCAGTGCC 0.647000 23 9 0 0 0.001061 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958776 57958776 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:57958776C>T ENST00000311591.3 + 1 871 c.814C>T c.(814-816)Cga>Tga p.R272* NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) CGAGGGAGACCGAGTGGTGTC 0.557000 41 82 0 0 0.003610 0 0 OR10H2 26538 broad.mit.edu 37 19 15839113 15839113 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:15839113C>T ENST00000305899.3 + 1 280 c.260C>T c.(259-261)tCc>tTc p.S87F NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GACCTGCTGTCCACCCAGCGC 0.612000 11 59 0 0 0.002450 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515407 140515407 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:140515407C>T ENST00000231134.5 + 1 608 c.391C>T c.(391-393)Cca>Tca p.P131S NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 131 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGACCATGCCCCAGAGTTCCC 0.453000 23 47 0 0 0.002780 0 0 OR6C1 390321 broad.mit.edu 37 12 55714592 55714592 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:55714592C>T ENST00000379668.2 + 1 247 c.209C>T c.(208-210)tCg>tTg p.S70L NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 70 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 TTAGAAATTTCGTTCACAACC 0.378000 26 20 0 0 0.003330 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588503 20588503 + RNA SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:20588503G>A ENST00000428453.1 - 0 4247 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CTTCCCTAGGGAAAACCTGAG 0.488000 11 65 0 0 0.000673 0 0 GCOM1 145781 broad.mit.edu 37 15 57925928 57925928 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:57925928C>T ENST00000574161.1 + 8 1041 c.922C>T c.(922-924)Cgc>Tgc p.R308C MYZAP_ENST00000380565.4_Missense_Mutation_p.R308C|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Missense_Mutation_p.R277C|GCOM1_ENST00000587652.1_Missense_Mutation_p.R308C|GCOM1_ENST00000396180.1_Missense_Mutation_p.R277C|GCOM1_ENST00000380569.2_Missense_Mutation_p.R308C|GCOM1_ENST00000380568.3_Missense_Mutation_p.R308C|GCOM1_ENST00000380560.2_Missense_Mutation_p.R239C|GCOM1_ENST00000572390.1_Missense_Mutation_p.R308C|MYZAP_ENST00000267853.5_Missense_Mutation_p.R308C NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 308 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 GCTGATTGAGCGCATGGAAAA 0.507000 40 37 0 0 0.002522 0 0 FMNL3 91010 broad.mit.edu 37 12 50062307 50062307 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:50062307G>A ENST00000335154.5 - 2 390 c.157C>T c.(157-159)Cgg>Tgg p.R53W FMNL3_ENST00000550488.1_Missense_Mutation_p.R53W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R53W|FMNL3_ENST00000293590.5_Missense_Mutation_p.R53W NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 53 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 CGCAGGAGCCGGGCCTTGTCT 0.532000 17 62 0 0 0.001216 0 0 UCP1 7350 broad.mit.edu 37 4 141484552 141484552 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr4:141484552C>T ENST00000262999.3 - 3 521 c.446G>A c.(445-447)gGa>gAa p.G149E NM_021833.4 NP_068605.1 P25874 UCP1_HUMAN uncoupling protein 1 (mitochondrial, proton carrier) 149 brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1) 16 all_hematologic(180;0.162) AGGTTTGATTCCGTGGAGATG 0.468000 18 63 0 0 0.001216 0 0 PDCL 5082 broad.mit.edu 37 9 125582800 125582800 + Missense_Mutation SNP T T A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr9:125582800T>A ENST00000259467.4 - 4 635 c.470A>T c.(469-471)cAa>cTa p.Q157L NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 157 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 CTGCTTGAATTGGGGCCCCTT 0.433000 48 19 0 0 0.003610 0 0 ATP12A 479 broad.mit.edu 37 13 25276115 25276115 + Missense_Mutation SNP A A C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr13:25276115A>C ENST00000218548.6 + 14 2275 c.1942A>C c.(1942-1944)Att>Ctt p.I648L ATP12A_ENST00000381946.3_Missense_Mutation_p.I642L NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 642 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) AGCCAAAGCTATTGCCAAGAG 0.473000 82 53 0 0 0.003610 0 0 SHOC2 8036 broad.mit.edu 37 10 112724208 112724208 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:112724208C>T ENST00000369452.4 + 2 437 c.92C>T c.(91-93)tCt>tTt p.S31F SHOC2_ENST00000265277.5_Missense_Mutation_p.S31F|SHOC2_ENST00000489390.1_Intron NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 31 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) GCAAAAGCCTCTGGAGGTTTT 0.438000 58 14 0 0 0.003610 0 0 RP1 6101 broad.mit.edu 37 8 55539794 55539794 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:55539794C>T ENST00000220676.1 + 4 3500 c.3352C>T c.(3352-3354)Cat>Tat p.H1118Y NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1118 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGTTCCCTTTCATTCTGCAAT 0.423000 16 28 0 0 0.003163 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18691147 18691147 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:18691147G>A ENST00000433979.1 + 24 3374 c.3258G>A c.(3256-3258)ggG>ggA p.G1086G PIK3C2G_ENST00000266497.5_Silent_p.G1086G|PIK3C2G_ENST00000538779.1_Silent_p.G1127G NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1086 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CAGAGGGTGGGAAAAACCCAC 0.398000 18 58 0 0 0.006122 0 0 MCPH1 79648 broad.mit.edu 37 8 6302683 6302683 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr8:6302683C>T ENST00000344683.5 + 8 1516 c.1440C>T c.(1438-1440)acC>acT p.T480T MCPH1_ENST00000522905.1_Silent_p.T432T|MCPH1_ENST00000519480.1_Silent_p.T480T NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 480 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) CAGCAAAAACCATCTCCAGTC 0.443000 37 38 0 0 0.004878 0 0 PCDHA11 56138 broad.mit.edu 37 5 140248752 140248752 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:140248752G>A ENST00000398640.2 + 1 64 c.64G>A c.(64-66)Gaa>Aaa p.E22K PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCCTCCTCGAATTCTGGGA 0.577000 60 56 0 0 0.003610 0 0 DACT1 51339 broad.mit.edu 37 14 59113645 59113645 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:59113645G>A ENST00000395153.3 + 4 2340 c.2193G>A c.(2191-2193)ggG>ggA p.G731G DACT1_ENST00000556859.1_Silent_p.G487G|DACT1_ENST00000395151.3_Silent_p.G487G|DACT1_ENST00000335867.4_Silent_p.G768G|DACT1_ENST00000541264.2_Silent_p.G487G NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 768 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 AGTTCGTGGGGGAGAGCACAA 0.582000 51 33 0 0 0.003610 0 0 OBSL1 23363 broad.mit.edu 37 2 220424197 220424197 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:220424197G>A ENST00000404537.1 - 9 3032 c.2976C>T c.(2974-2976)taC>taT p.Y992Y RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Silent_p.Y992Y|OBSL1_ENST00000603926.1_Silent_p.Y992Y|OBSL1_ENST00000265318.4_Silent_p.Y992Y NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 992 Ig-like 8. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CATCGCGAGGGTATATGATCC 0.592000 OREG0003986 type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 38 55 0 0 0.001706 0 0 HACE1 57531 broad.mit.edu 37 6 105233061 105233061 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:105233061G>A ENST00000262903.4 - 12 1484 c.1208C>T c.(1207-1209)gCt>gTt p.A403V HACE1_ENST00000369125.2_Missense_Mutation_p.A403V NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 403 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) AGGAATGGAAGCAGCATCTTG 0.423000 32 27 0 0 0.002445 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53943841 53943841 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:53943841G>A ENST00000263634.3 - 6 778 c.644C>T c.(643-645)cCc>cTc p.P215L ASB3_ENST00000406625.2_Missense_Mutation_p.P250L|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.P253L|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.P142L|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.P142L NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 250 intracellular signal transduction p.D211_L216delDKATPL(1) AATGAACAAGGGTGTAGCTTT 0.403000 23 26 0 0 0.001882 0 0 ZNF266 10781 broad.mit.edu 37 19 9524549 9524549 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:9524549G>A ENST00000592904.1 - 5 3128 c.1052C>T c.(1051-1053)cCc>cTc p.P351L ZNF266_ENST00000588933.1_Missense_Mutation_p.P351L|ZNF266_ENST00000361151.1_Missense_Mutation_p.P351L|ZNF266_ENST00000588221.1_Missense_Mutation_p.P351L|ZNF266_ENST00000592292.1_Missense_Mutation_p.P351L|ZNF266_ENST00000361451.2_Missense_Mutation_p.P351L|ZNF266_ENST00000590306.1_Missense_Mutation_p.P351L Q14584 ZN266_HUMAN zinc finger protein 266 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 ACATTTATAGGGTTTTATTCC 0.413000 59 32 0 0 0.003610 0 0 TRPV4 59341 broad.mit.edu 37 12 110240830 110240830 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:110240830G>A ENST00000418703.2 - 3 772 c.678C>T c.(676-678)ttC>ttT p.F226F TRPV4_ENST00000392719.2_Silent_p.F226F|TRPV4_ENST00000261740.2_Silent_p.F226F|TRPV4_ENST00000544971.1_Silent_p.F226F|TRPV4_ENST00000537083.1_Silent_p.F226F|TRPV4_ENST00000536838.1_Silent_p.F192F|TRPV4_ENST00000541794.1_Silent_p.F226F|TRPV4_ENST00000346520.2_Silent_p.F226F NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 226 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GCGAGTTAATGAACTCCCTCA 0.627000 24 12 0 0 0.002780 0 0 TAS2R8 50836 broad.mit.edu 37 12 10958879 10958879 + Missense_Mutation SNP A A T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:10958879A>T ENST00000240615.2 - 1 1013 c.701T>A c.(700-702)aTt>aAt p.I234N NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 234 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CATAGTTTTAATGGCTCTCAC 0.333000 36 20 0 0 0.001287 0 0 PLCB4 5332 broad.mit.edu 37 20 9417698 9417698 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:9417698G>A ENST00000378501.2 + 26 2642 c.2627G>A c.(2626-2628)gGa>gAa p.G876E PLCB4_ENST00000378493.1_Missense_Mutation_p.G876E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.G876E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G876E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G888E|PLCB4_ENST00000378473.3_Missense_Mutation_p.G888E NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 876 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 GACAAGAAAGGAAAGGCCAAC 0.498000 12 24 0 0 0.001368 0 0 FMNL3 91010 broad.mit.edu 37 12 50062308 50062308 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:50062308G>A ENST00000335154.5 - 2 389 c.156C>T c.(154-156)gcC>gcT p.A52A FMNL3_ENST00000550488.1_Silent_p.A52A|FMNL3_ENST00000352151.5_Silent_p.A52A|FMNL3_ENST00000293590.5_Silent_p.A52A NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 52 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 GCAGGAGCCGGGCCTTGTCTG 0.532000 17 59 0 0 0.001216 0 0 POTEF 728378 broad.mit.edu 37 2 130832585 130832585 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:130832585G>A ENST00000357462.5 - 15 2553 c.2460C>T c.(2458-2460)acC>acT p.T820T POTEF_ENST00000409914.2_Silent_p.T820T A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 820 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 ACATGATCTGGGTCATCTTCT 0.597000 72 64 0 0 0.003610 0 0 ZNF491 126069 broad.mit.edu 37 19 11917544 11917544 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:11917544G>A ENST00000323169.5 + 3 1107 c.776G>A c.(775-777)cGa>cAa p.R259Q ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 ATAAGCTTTCGAAGACACATG 0.408000 5 46 0 0 0.000602 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883787 19883787 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:19883787G>A ENST00000300571.2 - 2 572 c.381C>T c.(379-381)ttC>ttT p.F127F GPRC5B_ENST00000569847.1_Silent_p.F127F|GPRC5B_ENST00000569479.1_Silent_p.F127F|GPRC5B_ENST00000537135.1_Silent_p.F153F|GPRC5B_ENST00000535671.1_Silent_p.F127F NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 127 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CGCCCCAGAGGAAGCGGCGGA 0.667000 11 20 0 0 0.001855 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178821885 178821885 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:178821885C>T ENST00000234816.2 - 5 1668 c.1221G>A c.(1219-1221)ggG>ggA p.G407G RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Silent_p.G407G NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 407 Fibrinogen C-terminal. extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 TCATAGAATCCCCTGCATTTC 0.393000 13 56 0 0 0.001855 0 0 OR1M1 125963 broad.mit.edu 37 19 9204331 9204331 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:9204331C>T ENST00000429566.3 + 1 477 c.411C>T c.(409-411)agC>agT p.S137S NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 AGATCATGAGCCTACGCCTCT 0.567000 88 38 0 0 0.003610 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77327117 77327117 + Silent SNP T T C rs150608248 TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:77327117T>C ENST00000282849.5 - 20 3463 c.3045A>G c.(3043-3045)gaA>gaG p.E1015E NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 1015 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TGCAGAGGAGTTCACGCTTCC 0.527000 36 61 0 0 0.001287 0 0 CAD 790 broad.mit.edu 37 2 27455482 27455482 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:27455482C>T ENST00000264705.4 + 18 2974 c.2812C>T c.(2812-2814)Ctt>Ttt p.L938F CAD_ENST00000403525.1_Missense_Mutation_p.L875F|CAD_ENST00000464159.1_3'UTR NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 938 CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TGTCCTAGTCCTTGGCTCTGG 0.512000 36 48 0 0 0.005524 0 0 KIAA0930 23313 broad.mit.edu 37 22 45593791 45593791 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr22:45593791G>A ENST00000336156.4 - 9 1119 c.1054C>T c.(1054-1056)Ctg>Ttg p.L352L KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000443310.3_Silent_p.L334L|KIAA0930_ENST00000251993.7_Silent_p.L357L|KIAA0930_ENST00000391627.2_Silent_p.L318L NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 352 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 GTGCCCGACAGGGACCGAGAC 0.607000 23 81 0 0 0.002299 0 0 GID4 79018 broad.mit.edu 37 17 17957494 17957494 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:17957494C>T ENST00000268719.4 + 3 725 c.552C>T c.(550-552)caC>caT p.H184H GID4_ENST00000376345.3_Silent_p.H184H NM_024052.4 NP_076957.3 GID complex subunit 4 GCAAAAAACACCCTTTCTTAA 0.413000 8 53 0 0 0.004482 0 0 DDR1 780 broad.mit.edu 37 6 30864589 30864589 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:30864589C>T ENST00000324771.8 + 15 2364 c.1816C>T c.(1816-1818)Cct>Tct p.P606S DDR1_ENST00000361741.4_Missense_Mutation_p.P273S|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376567.2_Missense_Mutation_p.P569S|DDR1_ENST00000418800.2_Missense_Mutation_p.P569S|DDR1_ENST00000513240.1_Missense_Mutation_p.P606S|DDR1_ENST00000376568.3_Missense_Mutation_p.P606S|DDR1_ENST00000376575.3_Missense_Mutation_p.P606S|DDR1_ENST00000376570.4_Missense_Mutation_p.P569S|DDR1_ENST00000376569.3_Missense_Mutation_p.P569S|DDR1_ENST00000454612.2_Missense_Mutation_p.P569S|DDR1_ENST00000508312.1_Missense_Mutation_p.P587S|DDR1_ENST00000452441.1_Missense_Mutation_p.P606S Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 606 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.P568S(1)|p.P606S(1) central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) AGTGGATTTCCCTCGATCTCG 0.617000 32 38 0 0 0.002836 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450147 105450147 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chrX:105450147C>T ENST00000337685.2 + 5 1507 c.722C>T c.(721-723)tCa>tTa p.S241L MUM1L1_ENST00000372552.1_Missense_Mutation_p.S241L|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S241L NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 241 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CCACCTTTGTCACCTTTGTCA 0.428000 19 0 0 0 0.001216 0 0 AVEN 57099 broad.mit.edu 37 15 34168175 34168175 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:34168175C>T ENST00000306730.3 - 3 596 c.467G>A c.(466-468)cGg>cAg p.R156Q AVEN_ENST00000558136.1_5'UTR NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor 156 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) CTCAGCAAACCGGAACTGTGA 0.408000 14 22 0 0 0.006122 0 0 UGT2B4 7363 broad.mit.edu 37 4 70352395 70352395 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr4:70352395C>T ENST00000305107.6 - 4 1068 c.1022G>A c.(1021-1023)gGg>gAg p.G341E UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.G205E|UGT2B4_ENST00000512583.1_Missense_Mutation_p.G341E NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 341 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TGGTTTATTCCCATCAAATCT 0.348000 59 45 0 0 0.003610 0 0 OR2T6 254879 broad.mit.edu 37 1 248550993 248550993 + Silent SNP C C T rs61736237 byFrequency TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:248550993C>T ENST00000355728.2 + 1 84 c.84C>T c.(82-84)ttC>ttT p.F28F NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATTCTTTTTCGGTGTCATTT 0.438000 16 47 0 0 0.004007 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634966 70634966 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:70634966G>A ENST00000381269.2 - 2 927 c.174C>T c.(172-174)gtC>gtT p.V58V SLC8A3_ENST00000528359.1_Silent_p.V58V|SLC8A3_ENST00000357887.3_Silent_p.V58V|SLC8A3_ENST00000534137.1_Silent_p.V58V|SLC8A3_ENST00000356921.2_Silent_p.V58V NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 58 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TTGGCAGGATGACACCCTCCT 0.547000 24 15 0 0 0.001061 0 0 UTRN 7402 broad.mit.edu 37 6 144780342 144780342 + Silent SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:144780342C>A ENST00000367545.3 + 20 2559 c.2559C>A c.(2557-2559)ccC>ccA p.P853P NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 853 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCCTTCACCCCAAAATTGAAA 0.507000 24 18 9.57634e-11 2.15645e-10 0.003330 1 0 TSHZ3 57616 broad.mit.edu 37 19 31768106 31768106 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:31768106G>A ENST00000240587.4 - 2 2920 c.2593C>T c.(2593-2595)Cct>Tct p.P865S NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 865 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) ATGCTGGAAGGAGTGGAGGAT 0.542000 18 66 0 0 0.000958 0 0 GRM3 2913 broad.mit.edu 37 7 86469140 86469140 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:86469140C>T ENST00000361669.2 + 4 3409 c.2310C>T c.(2308-2310)ttC>ttT p.F770F GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.F642F|GRM3_ENST00000546348.1_Silent_p.F362F|GRM3_ENST00000439827.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 770 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AAGCTAAGTTCATAGGTTTTA 0.423000 50 30 0 0 0.003610 0 0 SLC9A2 6549 broad.mit.edu 37 2 103300682 103300682 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:103300682C>T ENST00000233969.2 + 5 1454 c.1312C>T c.(1312-1314)Cga>Tga p.R438* NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 438 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TGGAGGACTTCGAGGTGCCAT 0.438000 53 51 0 0 0.003610 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73144873 73144873 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:73144873C>T ENST00000545377.1 + 13 1884 c.1708C>T c.(1708-1710)Cgt>Tgt p.R570C ARHGEF28_ENST00000426542.2_Missense_Mutation_p.R570C|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R570C|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R257C|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R570C|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R570C|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R570C NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 AGGAAAAACTCGTTTGGTGCG 0.343000 4 1 0 0 0.000602 0 0 TRBJ2-2 28628 broad.mit.edu 37 7 142494282 142494282 + RNA SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:142494282C>A ENST00000390413.1 + 0 39 AGGCTCTAGGCTGACCGTACT 0.657000 12 53 5.16669e-11 1.16924e-10 0.000978 1 0 ARHGAP29 9411 broad.mit.edu 37 1 94643639 94643639 + Silent SNP G G C rs34014249 TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:94643639G>C ENST00000260526.6 - 21 2747 c.2565C>G c.(2563-2565)ccC>ccG p.P855P ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 855 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity p.P855P(1) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GAGCAGTTGTGGGCCTTGGCC 0.443000 56 16 0 0 0.003610 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140346810 140346810 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:140346810C>T ENST00000289269.5 + 1 991 c.459C>T c.(457-459)taC>taT p.Y153Y PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 153 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCCAACTACCAGCTTCAGG 0.612000 17 30 0 0 0.000958 0 0 A2ML1 144568 broad.mit.edu 37 12 8998726 8998726 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:8998726G>A ENST00000299698.7 + 14 1771 c.1591G>A c.(1591-1593)Gat>Aat p.D531N A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.D40N NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 375 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 ACTGGCCCCTGATCCTTCCCT 0.453000 59 46 0 0 0.003610 0 0 HMGB1 3146 broad.mit.edu 37 13 31036680 31036680 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr13:31036680C>T ENST00000405805.1 - 4 1406 c.466G>A c.(466-468)Gaa>Aaa p.E156K HMGB1_ENST00000326004.4_Missense_Mutation_p.E156K|HMGB1_ENST00000339872.4_Missense_Mutation_p.E156K|HMGB1_ENST00000399494.1_Missense_Mutation_p.E156K|HMGB1_ENST00000341423.5_Missense_Mutation_p.E156K|HMGB1_ENST00000399489.1_Missense_Mutation_p.E156K P09429 HMGB1_HUMAN high mobility group box 1 156 E -> Q. base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) CTTACCTTTTCATATTTTTCC 0.403000 6 84 0 0 0.001168 0 0 DNAH12 201625 broad.mit.edu 37 3 57509322 57509322 + Missense_Mutation SNP C C T rs34762664 TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr3:57509322C>T ENST00000351747.2 - 4 447 c.267G>A c.(265-267)atG>atA p.M89I DNAH12_ENST00000389536.4_Missense_Mutation_p.M89I|DNAH12_ENST00000311202.6_Missense_Mutation_p.M89I NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 89 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 CTTTTTTTTTCATTTCACTGG 0.249000 25 3 0 0 0.002096 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137423 40137423 + Silent SNP C C T rs142752772 byFrequency TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:40137423C>T ENST00000278198.2 - 2 2383 c.420G>A c.(418-420)ccG>ccA p.P140P LRRC4C_ENST00000528697.1_Silent_p.P140P|LRRC4C_ENST00000527150.1_Silent_p.P140P|LRRC4C_ENST00000530763.1_Silent_p.P140P Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 140 regulation of axonogenesis integral to membrane protein binding p.P140P(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) AAGCTCCATTCGGGATGGTAG 0.423000 13 40 0 0 0.001368 0 0 GPER1 2852 broad.mit.edu 37 7 1131810 1131810 + Missense_Mutation SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:1131810C>A ENST00000397092.1 + 3 1330 c.446C>A c.(445-447)aCc>aAc p.T149N GPER_ENST00000401670.1_Missense_Mutation_p.T149N|GPER_ENST00000297469.3_Missense_Mutation_p.T149N|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.T149N NM_001039966.1 NP_001035055.1 Q99527 GPER_HUMAN 149 endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 13 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) TTCTTCCTCACCTGGATGAGC 0.612000 16 50 6.94344e-10 1.55971e-09 0.006122 1 0 ACOX3 8310 broad.mit.edu 37 4 8383290 8383290 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr4:8383290C>T ENST00000356406.5 - 14 1659 c.1582G>A c.(1582-1584)Gag>Aag p.E528K ACOX3_ENST00000503233.1_Missense_Mutation_p.E528K|ACOX3_ENST00000413009.2_Missense_Mutation_p.E528K NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 528 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 TGATAAGTCTCTCGGAGCAGG 0.403000 40 26 0 0 0.001706 0 0 SVEP1 79987 broad.mit.edu 37 9 113238568 113238568 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr9:113238568C>T ENST00000401783.2 - 14 2851 c.2515G>A c.(2515-2517)Gac>Aac p.D839N SVEP1_ENST00000374469.1_Missense_Mutation_p.D816N|SVEP1_ENST00000302728.8_Missense_Mutation_p.D839N|SVEP1_ENST00000374461.1_Missense_Mutation_p.D816N|SVEP1_ENST00000467821.1_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 839 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAGTCAATGTCCTCTGCATCA 0.373000 73 11 0 0 0.003610 0 0 OR6C4 341418 broad.mit.edu 37 12 55945095 55945095 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:55945095C>T ENST00000394256.2 + 1 113 c.85C>T c.(85-87)Ctg>Ttg p.L29L RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 ATTCATCTTTCTGTTCCTCAC 0.428000 67 37 0 0 0.003610 0 0 TRBV4-1 28617 broad.mit.edu 37 7 142013358 142013358 + RNA SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:142013358G>A ENST00000390357.3 + 0 242 ACAGCTATGAGAAACTCTCTA 0.463000 100 57 0 0 0.003610 0 0 ACBD6 84320 broad.mit.edu 37 1 180461443 180461443 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:180461443G>A ENST00000367595.3 - 3 1032 c.345C>T c.(343-345)atC>atT p.I115I NM_032360.3 NP_115736.1 Q9BR61 ACBD6_HUMAN acyl-CoA binding domain containing 6 115 ACB. cytoplasm|nucleus fatty-acyl-CoA binding ACBD6/RRP15(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 7 TAACTACTGCGATATATTCCT 0.358000 29 12 0 0 0.002836 0 0 NCR1 9437 broad.mit.edu 37 19 55417934 55417934 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:55417934G>A ENST00000594765.1 + 3 149 c.124G>A c.(124-126)Gaa>Aaa p.E42K NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.E42K|NCR1_ENST00000598576.1_Missense_Mutation_p.E30K|NCR1_ENST00000338835.5_Missense_Mutation_p.E42K|NCR1_ENST00000447255.1_Missense_Mutation_p.E42K O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 42 Ig-like 1. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GGTTCCAAAGGAAAAGCAAGT 0.547000 82 43 0 0 0.003610 0 0 TOE1 114034 broad.mit.edu 37 1 45807145 45807145 + Splice_Site SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:45807145G>A ENST00000372090.5 + 4 820 c.236_splice c.e4-1 p.Q79_splice TOE1_ENST00000539779.1_Intron|TOE1_ENST00000495703.1_3'UTR NM_025077.3 NP_079353.3 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 79 nuclear speck|nucleolus nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 11 Acute lymphoblastic leukemia(166;0.155) CAACCCCAAGGTGCATTGAGG 0.582000 20 11 0 0 0.001882 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951551 119951551 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr4:119951551G>A ENST00000307142.4 + 4 1817 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K SYNPO2_ENST00000429713.2_Missense_Mutation_p.E541K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E541K|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 541 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AAGAAAGGAGGAAGAGTCGGT 0.512000 42 17 0 0 0.001706 0 0 SEMA6D 80031 broad.mit.edu 37 15 48052082 48052082 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr15:48052082C>T ENST00000316364.5 + 2 526 c.87C>T c.(85-87)ccC>ccT p.P29P SEMA6D_ENST00000355997.3_Silent_p.P29P|SEMA6D_ENST00000358066.4_Silent_p.P29P|SEMA6D_ENST00000536845.2_Silent_p.P29P|SEMA6D_ENST00000537942.1_Silent_p.P29P|SEMA6D_ENST00000558816.1_Silent_p.P29P|SEMA6D_ENST00000389432.2_Silent_p.P29P|SEMA6D_ENST00000389433.2_Silent_p.P29P|SEMA6D_ENST00000389428.3_Silent_p.P29P|SEMA6D_ENST00000558014.1_Silent_p.P29P|SEMA6D_ENST00000389425.3_Silent_p.P29P|SEMA6D_ENST00000354744.4_Silent_p.P29P NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 29 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) ATGATGAACCCCTTAATACTG 0.448000 25 49 0 0 0.001061 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801739 185801739 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:185801739G>A ENST00000302277.6 + 4 2210 c.1616G>A c.(1615-1617)gGa>gAa p.G539E NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 539 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGTGATTCTGGAAAAAATGAG 0.343000 21 26 0 0 0.001523 0 0 MPL 4352 broad.mit.edu 37 1 43818334 43818334 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:43818334G>A ENST00000372470.3 + 12 1841 c.1799G>A c.(1798-1800)gGg>gAg p.G600E NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 600 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCTTGCCTGGGGACCATGCCC 0.572000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 14 37 0 0 0.003163 0 0 HYDIN 54768 broad.mit.edu 37 16 70954741 70954741 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:70954741C>T ENST00000393567.2 - 46 7688 c.7538G>A c.(7537-7539)aGa>aAa p.R2513K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2513 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) caggcgctctctctcccGGTC 0.711000 7 9 0 0 0.001984 0 0 PITPNM2 57605 broad.mit.edu 37 12 123489905 123489905 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:123489905G>A ENST00000280562.5 - 6 1039 c.834C>T c.(832-834)gaC>gaT p.D278D PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Silent_p.D278D|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Silent_p.D278D|PITPNM2_ENST00000546049.1_Silent_p.D278D Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 278 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CAGAGGTCTGGTCCGAGACGG 0.617000 50 30 0 0 0.003610 0 0 GPR158 57512 broad.mit.edu 37 10 25886921 25886921 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:25886921G>A ENST00000376351.3 + 11 2725 c.2366G>A c.(2365-2367)aGg>aAg p.R789K GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 789 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GCCCTCATCAGGAAGAACCCC 0.547000 69 10 0 0 0.003610 0 0 NUP98 4928 broad.mit.edu 37 11 3797137 3797137 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:3797137G>A ENST00000324932.7 - 5 890 c.470C>T c.(469-471)cCt>cTt p.P157L NUP98_ENST00000397004.4_Missense_Mutation_p.P157L|NUP98_ENST00000397007.4_Missense_Mutation_p.P157L|NUP98_ENST00000359171.4_Missense_Mutation_p.P157L|NUP98_ENST00000355260.3_Missense_Mutation_p.P157L NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 157 Gly/Thr-rich. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AGTCCCAGTAGGAGCAGCTGT 0.398000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 79 59 0 0 0.003610 0 0 VPS54 51542 broad.mit.edu 37 2 64189210 64189210 + Missense_Mutation SNP T T C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:64189210T>C ENST00000354504.3 - 5 1230 c.641A>G c.(640-642)cAg>cGg p.Q214R VPS54_ENST00000409558.3_Missense_Mutation_p.Q319R|VPS54_ENST00000272322.4_Missense_Mutation_p.Q331R Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 331 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 GTGAATGCCCTGAAGTTCCTG 0.358000 48 81 0 0 0.003610 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995273 140995273 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chrX:140995273C>T ENST00000285879.4 + 4 2369 c.2083C>T c.(2083-2085)Cct>Tct p.P695S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 695 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCAAATTCCTCAGAGTCC 0.562000 HNSCC(15;0.026) 46 9 0 0 0.002522 0 0 DNAH8 1769 broad.mit.edu 37 6 38738263 38738263 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr6:38738263G>A ENST00000359357.3 + 10 1295 c.1041G>A c.(1039-1041)ggG>ggA p.G347G DNAH8_ENST00000449981.2_Silent_p.G564G|DNAH8_ENST00000441566.1_Silent_p.G347G 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 AATCCTCAGGGGAAAAATCTT 0.343000 20 10 0 0 0.000958 0 0 RBAK 57786 broad.mit.edu 37 7 5104617 5104617 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:5104617C>T ENST00000396912.1 + 5 2049 c.1530C>T c.(1528-1530)ccC>ccT p.P510P RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Silent_p.P510P NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 510 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) AAGAGAAACCCTATGAATGTA 0.403000 9 31 0 0 0.000443 0 0 PDE1B 5153 broad.mit.edu 37 12 54966496 54966496 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:54966496C>T ENST00000243052.3 + 7 1142 c.706C>T c.(706-708)Cat>Tat p.H236Y PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.H216Y|PDE1B_ENST00000538346.1_Missense_Mutation_p.H195Y NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 236 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 CCAGACAGTCCATTGCTTCTT 0.507000 147 98 0 0 0.003610 0 0 CYP2A7 1549 broad.mit.edu 37 19 41383104 41383104 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr19:41383104G>A ENST00000301146.4 - 7 1693 c.1152C>T c.(1150-1152)ttC>ttT p.F384F CYP2A7_ENST00000291764.3_Silent_p.F333F|CTC-490E21.12_ENST00000601627.1_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 384 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.F384L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCTTAGGGAGGAAAAAATCCC 0.527000 15 82 0 0 0.004007 0 0 UGT3A1 133688 broad.mit.edu 37 5 35955882 35955882 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:35955882C>T ENST00000274278.3 - 6 1517 c.1160G>A c.(1159-1161)gGa>gAa p.G387E UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G353E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G387E NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 387 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GACTGGTAATCCCACCATGGG 0.507000 31 62 0 0 0.002836 0 0 USP21 27005 broad.mit.edu 37 1 161130921 161130921 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:161130921C>T ENST00000368002.3 + 3 868 c.491C>T c.(490-492)cCt>cTt p.P164L USP21_ENST00000368001.1_Missense_Mutation_p.P164L|USP21_ENST00000289865.8_Missense_Mutation_p.P164L NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 164 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGGGGCTTTCCTGGACCCCCT 0.627000 32 20 0 0 0.003271 0 0 RAB42 115273 broad.mit.edu 37 1 28920589 28920589 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:28920589C>T ENST00000373826.3 + 2 584 c.278C>T c.(277-279)tCc>tTc p.S93F TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR NM_152304.1 NP_689517.1 Q8N4Z0 RAB42_HUMAN RAB42, member RAS oncogene family 93 small GTPase mediated signal transduction membrane GTP binding breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649) ATCCCCAGGTCCCCCAGCAGG 0.607000 5 32 0 0 0.001168 0 0 KDM5A 5927 broad.mit.edu 37 12 432368 432368 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:432368G>A ENST00000399788.2 - 16 2517 c.2155C>T c.(2155-2157)Cgc>Tgc p.R719C KDM5A_ENST00000382815.4_Missense_Mutation_p.R719C NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 719 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 AATGGGTAGCGATATCTACaa 0.318000 T NUP98 AML 6 23 0 0 0.001168 0 0 ATP9A 10079 broad.mit.edu 37 20 50286579 50286579 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:50286579G>A ENST00000338821.5 - 13 1514 c.1250C>T c.(1249-1251)tCa>tTa p.S417L ATP9A_ENST00000402822.1_Missense_Mutation_p.S296L|ATP9A_ENST00000311637.5_Missense_Mutation_p.S281L NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 417 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TTCGTCCATTGAGTCGAGGCC 0.438000 52 73 0 0 0.003610 0 0 TCL6 27004 broad.mit.edu 37 14 96136873 96136873 + RNA SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:96136873C>T ENST00000467865.1 + 0 1983 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) CTTCCTTCTCCTTCTTGGAGT 0.517000 T TRA@ T-ALL 8 25 0 0 0.000443 0 0 OR51E2 81285 broad.mit.edu 37 11 4703277 4703277 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:4703277C>T ENST00000396950.3 - 2 904 c.665G>A c.(664-666)cGa>cAa p.R222Q NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CAGAACCGTTCGTATTATCAG 0.488000 38 42 0 0 0.004878 0 0 CLEC4C 170482 broad.mit.edu 37 12 7882228 7882228 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:7882228C>T ENST00000542353.1 - 7 1096 c.606G>A c.(604-606)caG>caA p.Q202Q CLEC4C_ENST00000360345.3_Silent_p.Q202Q|CLEC4C_ENST00000354629.5_Silent_p.Q171Q|CLEC4C_ENST00000540085.1_Silent_p.Q171Q NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 202 C-type lectin. innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) AAATTGACTTCTGAGGTACAT 0.393000 33 22 0 0 0.002096 0 0 RNF19B 127544 broad.mit.edu 37 1 33402703 33402703 + Missense_Mutation SNP G G T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:33402703G>T ENST00000373456.7 - 9 1902 c.1903C>A c.(1903-1905)Ccc>Acc p.P635T RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.P634T NM_153341.2 NP_699172.2 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 635 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTGCAGGGGGGATCCTCTTCA 0.567000 28 115 3.80469e-20 8.69644e-20 0.001786 1 0 FIBIN 387758 broad.mit.edu 37 11 27016325 27016325 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:27016325C>T ENST00000318627.2 + 1 698 c.252C>T c.(250-252)ttC>ttT p.F84F NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 84 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 GGGAGGAGTTCACCGTGCTGG 0.647000 9 17 0 0 0.004482 0 0 ZNF831 128611 broad.mit.edu 37 20 57767335 57767335 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:57767335G>A ENST00000371030.2 + 1 1261 c.1261G>A c.(1261-1263)Gat>Aat p.D421N NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 421 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGTGGTGGACGATGCCCAGCT 0.672000 13 16 0 0 0.001368 0 0 RMND5A 64795 broad.mit.edu 37 2 86979038 86979038 + Missense_Mutation SNP G G C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:86979038G>C ENST00000283632.4 + 3 800 c.305G>C c.(304-306)aGc>aCc p.S102T NM_022780.3 NP_073617.1 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog A (S. cerevisiae) 102 kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 17 TCTGACATTAGCAGTGTGGGA 0.428000 14 19 0 0 0.003163 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413481 105413481 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:105413481G>A ENST00000333244.5 - 7 8426 c.8307C>T c.(8305-8307)gcC>gcT p.A2769A AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2769 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCACATCGGGGGCTGTCACTT 0.622000 128 72 0 0 0.003610 0 0 CDH8 1006 broad.mit.edu 37 16 61935082 61935082 + Splice_Site SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:61935082C>T ENST00000577390.1 - 3 1502 c.e3+1 CDH8_ENST00000584337.1_Splice_Site|CDH8_ENST00000299345.6_Splice_Site|CDH8_ENST00000577730.1_Splice_Site NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AGCATACATACCCAAAATGGA 0.358000 15 24 0 0 0.000958 0 0 RGS6 9628 broad.mit.edu 37 14 72936746 72936746 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr14:72936746C>T ENST00000553530.1 + 8 698 c.491C>T c.(490-492)gCg>gTg p.A164V RGS6_ENST00000404301.2_Missense_Mutation_p.A164V|RGS6_ENST00000554782.1_Missense_Mutation_p.A25V|RGS6_ENST00000553525.1_Missense_Mutation_p.A164V|RGS6_ENST00000402788.2_Missense_Mutation_p.A164V|RGS6_ENST00000406236.4_Missense_Mutation_p.A164V|RGS6_ENST00000355512.6_Missense_Mutation_p.A164V|RGS6_ENST00000434263.2_Missense_Mutation_p.A95V|RGS6_ENST00000343854.6_Missense_Mutation_p.A164V|RGS6_ENST00000556437.1_Missense_Mutation_p.A164V|RGS6_ENST00000555571.1_Missense_Mutation_p.A164V|RGS6_ENST00000407322.4_Missense_Mutation_p.A164V|RGS6_ENST00000553690.1_3'UTR NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 164 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) AGGGCCTTTGCGAGGAAGTGG 0.403000 6 46 0 0 0.001168 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478943 14478943 + RNA SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr18:14478943C>T ENST00000581457.1 - 0 965 NR_024076.1 GCTGTAAATTCGTTACATTTA 0.363000 8 17 0 0 0.003080 0 0 NINL 22981 broad.mit.edu 37 20 25439082 25439082 + Silent SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:25439082G>A ENST00000278886.6 - 22 3853 c.3780C>T c.(3778-3780)gcC>gcT p.A1260A NINL_ENST00000422516.1_Silent_p.A911A|NINL_ENST00000464285.1_5'UTR NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1260 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GATGCAGCTCGGCCACACGGT 0.672000 35 28 0 0 0.002836 0 0 STRIP2 57464 broad.mit.edu 37 7 129098202 129098202 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr7:129098202C>T ENST00000249344.2 + 10 1225 c.1185C>T c.(1183-1185)gaC>gaT p.D395D STRIP2_ENST00000435494.2_Silent_p.D395D NM_020704.2 NP_065755.1 striatin interacting protein 2 TAGAGCAGGACCCTCTGGTGC 0.597000 16 13 0 0 0.004007 0 0 GPR98 84059 broad.mit.edu 37 5 89924572 89924572 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:89924572G>A ENST00000405460.2 + 8 1528 c.1432G>A c.(1432-1434)Gaa>Aaa p.E478K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 478 Calx-beta 4. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGATCTTCCAGAAGAGGCAGA 0.453000 37 37 0 0 0.004289 0 0 GALNT5 11227 broad.mit.edu 37 2 158115636 158115636 + Missense_Mutation SNP C C T rs144689586 TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr2:158115636C>T ENST00000259056.4 + 1 1527 c.1042C>T c.(1042-1044)Cct>Tct p.P348S NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 348 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.P348S(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 AACAATATTTCCTAAAGTATT 0.393000 40 40 0 0 0.001706 0 0 TOE1 114034 broad.mit.edu 37 1 45807144 45807144 + Splice_Site SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr1:45807144G>A ENST00000372090.5 + 4 819 c.e4-1 TOE1_ENST00000539779.1_Intron|TOE1_ENST00000495703.1_Splice_Site NM_025077.3 NP_079353.3 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) nuclear speck|nucleolus nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 11 Acute lymphoblastic leukemia(166;0.155) CCAACCCCAAGGTGCATTGAG 0.587000 20 11 0 0 0.002299 0 0 FAM196A 642938 broad.mit.edu 37 10 128973855 128973855 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:128973855C>T ENST00000522781.1 - 4 1360 c.805G>A c.(805-807)Ggt>Agt p.G269S FAM196A_ENST00000424811.2_Missense_Mutation_p.G269S|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 269 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TCTGACAAACCAGGCTCGGGG 0.647000 7 35 0 0 0.003080 0 0 ANAPC7 51434 broad.mit.edu 37 12 110841400 110841400 + Silent SNP C C G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:110841400C>G ENST00000455511.3 - 1 135 c.135G>C c.(133-135)gcG>gcC p.A45A RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Silent_p.A45A NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 45 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 GCCCCGCGGCCGCCATGTCCC 0.602000 6 15 0 0 0.001984 0 0 MED12L 116931 broad.mit.edu 37 3 151129185 151129185 + Silent SNP A A T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr3:151129185A>T ENST00000474524.1 + 39 5963 c.5925A>T c.(5923-5925)gcA>gcT p.A1975A MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1975 Gln-rich. 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) ATCCGGCCGCACATTCCAACC 0.577000 105 6 0 0 0.003610 0 0 KRT20 54474 broad.mit.edu 37 17 39036510 39036510 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr17:39036510C>T ENST00000167588.3 - 4 675 c.634G>A c.(634-636)Gtc>Atc p.V212I NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 212 Coil 1B.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) AGGCCATCGACTTCCTATGAA 0.443000 13 83 0 0 0.002450 0 0 SNCAIP 9627 broad.mit.edu 37 5 121761165 121761165 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr5:121761165G>A ENST00000261367.7 + 7 2690 c.1262G>A c.(1261-1263)gGa>gAa p.G421E SNCAIP_ENST00000503116.2_Missense_Mutation_p.G421E|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G374E|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G421E|SNCAIP_ENST00000504884.2_Silent_p.G83G|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 374 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TCTTTGATGGGAGAAGACTGC 0.493000 32 51 0 0 0.003755 0 0 LOC399815 399815 broad.mit.edu 37 10 124654324 124654325 + RNA INS - - GTTACTAGTTTGTAACTACACTTTTTTTTTTCAA rs144762615 by1000genomes TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr10:124654324_124654325insGTTACTAGTTTGTAACTACACTTTTTTTTTTCAA ENST00000425266.1 + 0 291 TCTCCCTTCTTGTTACTAGTTT 0.386 2 4 --- --- --- --- HNRNPUL2 221092 broad.mit.edu 37 11 62491837 62491838 + Frame_Shift_Ins INS - - C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:62491837_62491838insC ENST00000301785.5 - 2 791_792 c.599_600insG c.(598-600)gaafs p.E200fs RP11-831H9.16_ENST00000403734.2_Frame_Shift_Ins_p.E200fs NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 200 Glu-rich. cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GCTGTCTCTTTACCCCCCGCCG 0.495 9 158 --- --- --- --- HNRNPUL2 221092 broad.mit.edu 37 11 62491838 62491839 + Frame_Shift_Ins INS - - C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:62491838_62491839insC ENST00000301785.5 - 2 790_791 c.598_599insG c.(598-600)aaafs p.K200fs RP11-831H9.16_ENST00000403734.2_Frame_Shift_Ins_p.K200fs NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 200 Glu-rich. cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CTGTCTCTTTACCCCCCGCCGC 0.500 21 148 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535677 119535678 + In_Frame_Ins INS - - CCT rs137909701 by1000genomes TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr11:119535677_119535678insCCT ENST00000264025.3 - 6 1863_1864 c.1333_1334insAGG c.(1333-1335)cgg>AGGcgg p.445_445R>RR PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 445 Poly-Gly. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCCTCCACCGCcctcctcctcc 0.658 10 45 --- --- --- --- ATF7IP 55729 broad.mit.edu 37 12 14577971 14577973 + In_Frame_Del DEL TAT TAT - TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr12:14577971_14577973delTAT ENST00000544627.1 + 2 1466_1468 c.1146_1148delTAT c.(1144-1149)gat>ga p.DI382del ATF7IP_ENST00000540793.1_In_Frame_Del_p.DI374del|ATF7IP_ENST00000536444.1_In_Frame_Del_p.DI374del|ATF7IP_ENST00000543189.1_In_Frame_Del_p.DI374del|ATF7IP_ENST00000261168.4_In_Frame_Del_p.DI374del|ATF7IP_ENST00000541654.1_3'UTR Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 374 Glu-rich. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TAGAGGAAGATATTATCACAGAG 0.350 27 91 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 10 206 --- --- --- --- SALL3 27164 broad.mit.edu 37 18 76755055 76755055 + Frame_Shift_Del DEL C C - TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr18:76755055delC ENST00000537592.2 + 2 3064 c.3064delC c.(3064-3066)agfs p.Q1022fs SALL3_ENST00000575389.2_Intron|SALL3_ENST00000536229.3_Intron NM_171999.3 NP_741996.2 Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1022 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TAATTTAAAACAGCACTTACT 0.522 37 27 --- --- --- --- C20orf27 54976 broad.mit.edu 37 20 3735139 3735139 + Frame_Shift_Del DEL G G - TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr20:3735139delG ENST00000379772.3 - 5 1139 c.329delC c.(328-330)ggfs p.A110fs C20orf27_ENST00000217195.8_Frame_Shift_Del_p.A135fs NM_001258429.1 NP_001245358.1 Q9GZN8 CT027_HUMAN chromosome 20 open reading frame 27 110 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 7 CTCTTTGTGCGCCGAGTACTC 0.642 19 63 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)del p.Q262del MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000478831.1_3'UTR NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 8 56 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42898666 42898666 + RNA DEL C C - TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c24feb7-7460-49db-b6f7-64ccf377311a 50ea367b-5ca1-4338-9fcf-0fd0db568b1a g.chr22:42898666delC ENST00000359906.2 + 0 409 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CCATATGGTGCCCCCCCCCCA 0.592 7 40 --- --- --- ---