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 CLEC4E 26253 broad.mit.edu 37 12 8693386 8693386 + Nonsense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:8693386G>T ENST00000299663.3 - 1 173 c.8C>A c.(7-9)tCa>tAa p.S3* CLEC4E_ENST00000446457.2_Nonsense_Mutation_p.S3*|CLEC4E_ENST00000545274.1_Nonsense_Mutation_p.S3* NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 3 integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) TGATTTAGATGAATTCATTTT 0.363000 12 43 0.00185496 0.00260109 0.001855 1 0 EYA1 2138 broad.mit.edu 37 8 72229804 72229804 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr8:72229804T>C ENST00000340726.3 - 7 1178 c.539A>G c.(538-540)tAc>tGc p.Y180C EYA1_ENST00000388742.4_Missense_Mutation_p.Y180C|EYA1_ENST00000388741.2_Missense_Mutation_p.Y146C|EYA1_ENST00000419131.1_Missense_Mutation_p.Y175C|EYA1_ENST00000303824.7_Missense_Mutation_p.Y174C|EYA1_ENST00000388743.2_Missense_Mutation_p.Y179C|EYA1_ENST00000388740.3_Missense_Mutation_p.Y147C NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 180 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) CTGGTAGCTGTATGGTGCCTG 0.438000 45 94 0 0 0.013114 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75553701 75553701 + Missense_Mutation SNP A A C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr10:75553701A>C ENST00000604729.1 + 12 2821 c.2524A>C c.(2524-2526)Aca>Cca p.T842P ZSWIM8_ENST00000604524.1_Missense_Mutation_p.T842P|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.T842P|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.T809P|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.T842P zinc finger, SWIM-type containing 8 CTTCCTGTTGACAGTGCTAAG 0.562000 7 20 0 0 0.001984 0 0 HERC3 8916 broad.mit.edu 37 4 89583677 89583677 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr4:89583677C>T ENST00000402738.1 + 11 1481 c.1242C>T c.(1240-1242)ctC>ctT p.L414L HERC3_ENST00000264345.3_Silent_p.L414L|HERC3_ENST00000543130.1_Intron NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 414 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GACAAAAACTCTCAGAACACA 0.343000 5 32 0 0 0.000602 0 0 SMTN 6525 broad.mit.edu 37 22 31485785 31485785 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr22:31485785T>C ENST00000333137.7 + 7 790 c.572T>C c.(571-573)cTg>cCg p.L191P SMTN_ENST00000358743.1_Missense_Mutation_p.L191P|SMTN_ENST00000347557.2_Missense_Mutation_p.L191P NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 191 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 ACACTCCTGCTGCGAGCCCCA 0.637000 14 51 0 0 0.003163 0 0 PCSK2 5126 broad.mit.edu 37 20 17462446 17462446 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr20:17462446G>C ENST00000262545.2 + 12 1963 c.1648G>C c.(1648-1650)Gac>Cac p.D550H PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.D515H|PCSK2_ENST00000377899.1_Missense_Mutation_p.D531H NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 550 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGTGGGCTTTGACAAGTGGCC 0.597000 11 31 0 0 0.010729 0 0 HSD17B6 8630 broad.mit.edu 37 12 57167654 57167654 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:57167654G>A ENST00000554643.1 + 3 367 c.18G>A c.(16-18)gcG>gcA p.A6A HSD17B6_ENST00000554150.1_Silent_p.A6A|HSD17B6_ENST00000322165.1_Silent_p.A6A|HSD17B6_ENST00000555805.1_Silent_p.A6A|HSD17B6_ENST00000555159.1_Silent_p.A6A O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 6 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Succinic acid(DB00139) TCTACCTGGCGGCCTTCGTGG 0.463000 14 65 0 0 0.003163 0 0 CSNK1D 1453 broad.mit.edu 37 17 80211118 80211118 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr17:80211118G>A ENST00000314028.6 - 4 688 c.339C>T c.(337-339)atC>atT p.I113I CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Silent_p.I113I|CSNK1D_ENST00000392334.2_Silent_p.I113I NM_001893.4 NP_001884.2 P48730 KC1D_HUMAN casein kinase 1, delta 113 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) CGATGCGACTGATCTGTGAGC 0.552000 55 40 0 0 0.014410 0 0 CCP110 9738 broad.mit.edu 37 16 19557137 19557137 + Splice_Site SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr16:19557137A>G ENST00000396212.2 + 12 3139 c.e12-1 CCP110_ENST00000381396.5_Splice_Site|CCP110_ENST00000396208.2_Splice_Site NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 TGTATATTAAAGGATAAAATG 0.338000 24 52 0 0 0.005443 0 0 COCH 1690 broad.mit.edu 37 14 31346874 31346874 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr14:31346874C>G ENST00000396618.3 + 4 235 c.179C>G c.(178-180)tCt>tGt p.S60C COCH_ENST00000216361.4_Missense_Mutation_p.S60C|COCH_ENST00000475087.1_Missense_Mutation_p.S60C|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000460581.2_5'UTR NM_004086.2 NP_004077.1 O43405 COCH_HUMAN cochlin 60 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) GAGGAATTCTCTGTGTATGGG 0.507000 9 34 0 0 0.004482 0 0 MSX2 4488 broad.mit.edu 37 5 174156337 174156337 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr5:174156337G>T ENST00000239243.6 + 2 682 c.555G>T c.(553-555)caG>caT p.Q185H NM_002449.4 NP_002440.2 P35548 MSX2_HUMAN msh homeobox 2 185 cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CAGAGACCCAGGTCAAAATCT 0.547000 13 58 4.36969e-10 6.56762e-10 0.001855 1 0 CSMD3 114788 broad.mit.edu 37 8 113599348 113599348 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr8:113599348C>G ENST00000297405.5 - 23 4076 c.3832G>C c.(3832-3834)Gga>Cga p.G1278R CSMD3_ENST00000352409.3_Missense_Mutation_p.G1278R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1238R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1174R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1278 CUB 7. integral to membrane|plasma membrane p.G1238*(1)|p.G1278*(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATATTGATTCCCTTTCCTGCT 0.338000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 46 0 0 0.003330 0 0 ZNF322 79692 broad.mit.edu 37 6 26638669 26638669 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:26638669A>G ENST00000415922.2 - 4 758 c.113T>C c.(112-114)aTa>aCa p.I38T ZNF322_ENST00000471278.1_Missense_Mutation_p.I38T NM_024639.4 NP_078915.2 Q6U7Q0 Z322A_HUMAN zinc finger protein 322 38 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ATGACCATCTATCTGAATAAT 0.343000 37 179 0 0 0.014410 0 0 HERC3 8916 broad.mit.edu 37 4 89583679 89583679 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr4:89583679C>T ENST00000402738.1 + 11 1483 c.1244C>T c.(1243-1245)tCa>tTa p.S415L HERC3_ENST00000264345.3_Missense_Mutation_p.S415L|HERC3_ENST00000543130.1_Intron NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 415 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) CAAAAACTCTCAGAACACAAC 0.348000 5 33 0 0 0.000602 0 0 PUS1 80324 broad.mit.edu 37 12 132425944 132425944 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:132425944C>G ENST00000542167.2 + 4 1246 c.493C>G c.(493-495)Cag>Gag p.Q165E PUS1_ENST00000376649.3_Missense_Mutation_p.Q218E|PUS1_ENST00000443358.2_Missense_Mutation_p.Q190E|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.Q190E Q9Y606 TRUA_HUMAN pseudouridylate synthase 1 218 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 11 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) CCGGGACGTTCAGGATGAGAC 0.592000 8 48 0 0 0.003080 0 0 MYH8 4626 broad.mit.edu 37 17 10303758 10303758 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr17:10303758C>A ENST00000403437.2 - 27 3778 c.3684G>T c.(3682-3684)aaG>aaT p.K1228N CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1228 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CAGTCTCCATCTTCAGCTCAC 0.488000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 28 137 2.12542e-12 3.25292e-12 0.006320 1 0 PLEKHG4B 153478 broad.mit.edu 37 5 140744 140744 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr5:140744T>C ENST00000283426.6 + 1 372 c.322T>C c.(322-324)Tcc>Ccc p.S108P NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 108 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CTCAGCAGGCTCCAGGCCTGG 0.647000 10 63 0 0 0.010729 0 0 LMBRD1 55788 broad.mit.edu 37 6 70386390 70386390 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:70386390G>A ENST00000370577.3 - 15 1690 c.1461C>T c.(1459-1461)ttC>ttT p.F487F LMBRD1_ENST00000370570.1_Silent_p.F414F NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 487 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 TGAAGAACCAGAACTTGTGAA 0.383000 4 24 0 0 0.000602 0 0 STOML1 9399 broad.mit.edu 37 15 74284510 74284510 + Nonsense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr15:74284510G>A ENST00000316900.5 - 1 179 c.55C>T c.(55-57)Cag>Tag p.Q19* STOML1_ENST00000564777.1_Nonsense_Mutation_p.Q19*|STOML1_ENST00000359750.4_Nonsense_Mutation_p.Q19*|STOML1_ENST00000316911.6_Nonsense_Mutation_p.Q19*|STOML1_ENST00000541638.1_5'UTR|STOML1_ENST00000561656.1_Intron NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4 NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 19 integral to membrane sterol binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 CTCGACTGCTGGAAGCGGTCA 0.716000 7 55 0 0 0.001984 0 0 SHANK2 22941 broad.mit.edu 37 11 70333123 70333123 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr11:70333123C>T ENST00000338508.4 - 32 3277 c.3278G>A c.(3277-3279)cGg>cAg p.R1093Q SHANK2_ENST00000423696.2_Missense_Mutation_p.R713Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R496Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.R497Q Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 713 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GGCTTCCAGCCGCTTCTCACG 0.721000 13 347 0 0 0.003163 0 0 NKRF 55922 broad.mit.edu 37 X 118723979 118723979 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chrX:118723979T>C ENST00000371527.1 - 2 2061 c.1409A>G c.(1408-1410)tAt>tGt p.Y470C NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.Y485C|NKRF_ENST00000304449.5_Missense_Mutation_p.Y470C NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 470 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 CATCCTTTCATAGACATACTC 0.408000 3 81 0 0 0.004672 0 0 BRPF3 27154 broad.mit.edu 37 6 36175199 36175199 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:36175199G>A ENST00000357641.6 + 4 1968 c.1715G>A c.(1714-1716)aGa>aAa p.R572K BRPF3_ENST00000443324.2_Missense_Mutation_p.R572K|BRPF3_ENST00000339717.7_Missense_Mutation_p.R572K|BRPF3_ENST00000534694.1_Missense_Mutation_p.R572K|BRPF3_ENST00000534400.1_Missense_Mutation_p.R572K|BRPF3_ENST00000543502.1_Missense_Mutation_p.R572K NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 572 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 ATTCGGAAGAGAGAGAAGCTC 0.537000 5 35 0 0 0.000602 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111953845 111953845 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr13:111953845A>G ENST00000218789.5 + 20 2458 c.1961A>G c.(1960-1962)tAt>tGt p.Y654C ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y670C|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y595C|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y595C|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y680C Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 418 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) GATACCGTATATGCATTAAAG 0.368000 39 37 0 0 0.014410 0 0 ARID1A 8289 broad.mit.edu 37 1 27106940 27106940 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:27106940C>T ENST00000324856.7 + 20 6922 c.6551C>T c.(6550-6552)gCc>gTc p.A2184V ARID1A_ENST00000457599.2_Missense_Mutation_p.A1967V|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1801V|ARID1A_ENST00000540690.1_Missense_Mutation_p.A512V NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2184 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.A2182fs*36(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCAGCTCGTGCCATTGCAGTG 0.632000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 4 81 0 0 0.009096 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 4 55 0 0 0.000602 0 0 SCN1A 6323 broad.mit.edu 37 2 166894613 166894613 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:166894613C>A ENST00000423058.2 - 15 2636 c.2619G>T c.(2617-2619)tgG>tgT p.W873C AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.W845C|SCN1A_ENST00000375405.3_Missense_Mutation_p.W862C|SCN1A_ENST00000303395.4_Missense_Mutation_p.W873C|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 873 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTAACGTTGGCCAAGATTTTG 0.373000 11 75 2.80697e-09 4.16894e-09 0.010729 1 0 ANKH 56172 broad.mit.edu 37 5 14758660 14758660 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr5:14758660C>T ENST00000284268.6 - 3 691 c.361G>A c.(361-363)Gac>Aac p.D121N NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 121 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 ACCGACTCGTCCACATGGTGC 0.433000 12 63 0 0 0.001855 0 0 NACA 4666 broad.mit.edu 37 12 57111028 57111028 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:57111028G>C ENST00000454682.1 - 3 4567 c.4286C>G c.(4285-4287)tCc>tGc p.S1429C NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 ATCTCCTTTGGATGGGGTGGC 0.592000 T BCL6 NHL 4 37 0 0 0.000602 0 0 ANKMY1 51281 broad.mit.edu 37 2 241492385 241492385 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:241492385G>A ENST00000391987.1 - 4 525 c.159C>T c.(157-159)taC>taT p.Y53Y ANKMY1_ENST00000406958.1_Silent_p.Y142Y|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000403283.1_Silent_p.Y221Y|ANKMY1_ENST00000373320.4_Silent_p.Y53Y|ANKMY1_ENST00000361678.4_Silent_p.Y142Y|ANKMY1_ENST00000373318.2_Silent_p.Y142Y|ANKMY1_ENST00000401804.1_Silent_p.Y142Y|ANKMY1_ENST00000272972.3_Silent_p.Y53Y|ANKMY1_ENST00000405523.3_Silent_p.Y142Y|ANKMY1_ENST00000536462.1_Silent_p.Y95Y|ANKMY1_ENST00000405002.1_Silent_p.Y53Y Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 53 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GGTGGCTGAGGTAAAATGTGC 0.567000 36 56 0 0 0.003755 0 0 LIG4 3981 broad.mit.edu 37 13 108862659 108862659 + Missense_Mutation SNP T T G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr13:108862659T>G ENST00000356922.4 - 2 1230 c.958A>C c.(958-960)Aaa>Caa p.K320Q LIG4_ENST00000405925.1_Missense_Mutation_p.K320Q|LIG4_ENST00000442234.1_Missense_Mutation_p.K320Q NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 320 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) ATATCTGCTTTGAATGCATTA 0.338000 Non-homologous end-joining 35 30 0 0 0.003271 0 0 EPHB6 2051 broad.mit.edu 37 7 142564288 142564288 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr7:142564288C>T ENST00000392957.2 + 10 2299 c.1512C>T c.(1510-1512)atC>atT p.I504I EPHB6_ENST00000411471.2_Silent_p.I227I|EPHB6_ENST00000442129.1_Silent_p.I504I NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 504 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CCAACAGCATCACGGTGTCCT 0.592000 34 46 0 0 0.013726 0 0 CMTM8 152189 broad.mit.edu 37 3 32398887 32398887 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr3:32398887C>T ENST00000307526.3 + 2 464 c.170C>T c.(169-171)aCg>aTg p.T57M CMTM8_ENST00000458535.2_Intron NM_178868.3 NP_849199.2 Q8IZV2 CKLF8_HUMAN CKLF-like MARVEL transmembrane domain containing 8 57 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 CTGGTATGGACGCTTATTGCT 0.483000 22 60 0 0 0.014323 0 0 SEMA5A 9037 broad.mit.edu 37 5 9066619 9066619 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr5:9066619G>T ENST00000382496.5 - 17 2878 c.2213C>A c.(2212-2214)gCt>gAt p.A738D NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 738 TSP type-1 4. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ATTCGGATCAGCCAGGCGGGC 0.542000 32 150 9.78306e-22 1.54437e-21 0.009535 1 0 NMS 129521 broad.mit.edu 37 2 101097599 101097599 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:101097599G>A ENST00000376865.1 + 8 391 c.384G>A c.(382-384)gcG>gcA p.A128A NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 128 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 ATCACACTGCGACCTGGGGAC 0.418000 18 94 0 0 0.007413 0 0 ITGA1 3672 broad.mit.edu 37 5 52201636 52201636 + Silent SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr5:52201636C>G ENST00000282588.6 + 12 1811 c.1353C>G c.(1351-1353)ctC>ctG p.L451L NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 451 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GAGATGTGCTCTATATTGCTG 0.433000 14 37 0 0 0.001855 0 0 TRA2A 29896 broad.mit.edu 37 7 23561386 23561386 + Missense_Mutation SNP C C T rs142235949 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr7:23561386C>T ENST00000297071.4 - 2 326 c.110G>A c.(109-111)cGt>cAt p.R37H TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR NM_013293.3 NP_037425.1 Q13595 TRA2A_HUMAN transformer 2 alpha homolog (Drosophila) 37 Arg/Ser-rich (RS1 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 TGATGGACTACGAGATCCTGA 0.413000 28 44 0 0 0.004656 0 0 RYR2 6262 broad.mit.edu 37 1 237969513 237969513 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:237969513T>C ENST00000366574.2 + 99 14545 c.14228T>C c.(14227-14229)cTt>cCt p.L4743P RYR2_ENST00000542537.1_Missense_Mutation_p.L4727P|RYR2_ENST00000360064.6_Missense_Mutation_p.L4749P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4743 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCGCTCACCTTCTCGACATT 0.408000 24 35 0 0 0.014323 0 0 TANC1 85461 broad.mit.edu 37 2 160006935 160006935 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:160006935G>T ENST00000263635.6 + 7 787 c.550G>T c.(550-552)Gca>Tca p.A184S TANC1_ENST00000454300.1_Intron NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 184 Ser-rich. cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 AAGCAGCACCGCATCTCCTAG 0.527000 16 13 1.67942e-08 2.45078e-08 0.006122 1 0 MCU 90550 broad.mit.edu 37 10 74620189 74620189 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr10:74620189C>T ENST00000536019.1 + 4 698 c.253C>T c.(253-255)Cgc>Tgc p.R85C MCU_ENST00000357157.6_Missense_Mutation_p.R134C|MCU_ENST00000373053.3_Missense_Mutation_p.R134C NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 134 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 AGATGGTGTTCGCGTTGCTGC 0.358000 18 77 0 0 0.006122 0 0 CPAMD8 27151 broad.mit.edu 37 19 17122306 17122306 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr19:17122306C>T ENST00000443236.1 - 5 626 c.595G>A c.(595-597)Gtc>Atc p.V199I CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.V152I NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 152 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TTTGGAGAGACGGTGAAGATG 0.587000 20 65 0 0 0.007413 0 0 KCNT2 343450 broad.mit.edu 37 1 196295872 196295872 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:196295872G>C ENST00000367433.5 - 19 2352 c.2251C>G c.(2251-2253)Ccc>Gcc p.P751A KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.P701A|KCNT2_ENST00000451324.2_Missense_Mutation_p.P362A|KCNT2_ENST00000294725.8_Missense_Mutation_p.P751A Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 751 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 AGTACTATGGGATTAAGTTCT 0.284000 3 38 0 0 0.009096 0 0 ELP4 26610 broad.mit.edu 37 11 31616423 31616423 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr11:31616423G>A ENST00000395934.2 + 4 495 c.488G>A c.(487-489)cGt>cAt p.R163H ELP4_ENST00000379163.5_Missense_Mutation_p.R163H|ELP4_ENST00000350638.5_Missense_Mutation_p.R163H Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 163 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) ATAGCTTGGCGTTACCAGTTA 0.318000 6 22 0 0 0.001168 0 0 TCHH 7062 broad.mit.edu 37 1 152085381 152085381 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:152085381G>A ENST00000368804.1 - 2 311 c.312C>T c.(310-312)gaC>gaT p.D104D NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 104 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCCTTTCCGTCACACCGGG 0.527000 135 97 0 0 0.014410 0 0 NXF1 10482 broad.mit.edu 37 11 62564806 62564806 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr11:62564806G>A ENST00000532297.1 - 13 1735 c.1106C>T c.(1105-1107)aCg>aTg p.T369M NXF1_ENST00000294172.2_Missense_Mutation_p.T369M|NXF1_ENST00000531709.2_3'UTR Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 369 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGGCGGTAACGTCGTGGGGGC 0.498000 12 76 0 0 0.010729 0 0 TRIM51 84767 broad.mit.edu 37 11 55653123 55653123 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr11:55653123G>A ENST00000449290.2 + 2 311 c.219G>A c.(217-219)atG>atA p.M73I NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 73 intracellular zinc ion binding TGAAGAACATGGCTTTCATTG 0.478000 11 13 0 0 0.008291 0 0 HDHD3 81932 broad.mit.edu 37 9 116136605 116136605 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr9:116136605C>T ENST00000238379.5 - 2 927 c.30G>A c.(28-30)ctG>ctA p.L10L HDHD3_ENST00000374180.3_Silent_p.L10L|HDHD3_ENST00000485934.1_5'UTR NM_031219.2 NP_112496.1 Q9BSH5 HDHD3_HUMAN haloacid dehalogenase-like hydrolase domain containing 3 10 phosphoglycolate phosphatase activity|protein binding large_intestine(2)|liver(1) 3 CATCCCACGTCAGCAGTCGTA 0.657000 7 40 0 0 0.004482 0 0 DSC1 1823 broad.mit.edu 37 18 28713884 28713884 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr18:28713884C>A ENST00000257197.3 - 13 2347 c.2086G>T c.(2086-2088)Gct>Tct p.A696S DSC1_ENST00000257198.5_Missense_Mutation_p.A696S|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 696 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AACACCATAGCAAGAATAGCC 0.318000 24 23 3.10358e-05 4.40112e-05 0.014323 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79059275 79059275 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr15:79059275A>G ENST00000388820.4 - 19 3188 c.2978T>C c.(2977-2979)cTc>cCc p.L993P ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 993 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCACCGACAGAGTGGCAGAGA 0.652000 3 68 0 0 0.004672 0 0 WWP1 11059 broad.mit.edu 37 8 87454892 87454892 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr8:87454892A>G ENST00000517970.1 + 18 2190 c.1883A>G c.(1882-1884)tAt>tGt p.Y628C WWP1_ENST00000341922.2_Missense_Mutation_p.Y498C|WWP1_ENST00000349423.2_Missense_Mutation_p.Y410C|WWP1_ENST00000265428.4_Missense_Mutation_p.Y628C NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 628 HECT. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 AACCCAATGTATTGCTTATTT 0.318000 18 36 0 0 0.007413 0 0 BTN1A1 696 broad.mit.edu 37 6 26505323 26505323 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:26505323T>C ENST00000244513.6 + 3 664 c.598T>C c.(598-600)Ttc>Ctc p.F200L NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 200 Ig-like V-type 2. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 AGAAGGTTTGTTCACTGTGGC 0.478000 12 71 0 0 0.013537 0 0 KDM5B 10765 broad.mit.edu 37 1 202733221 202733221 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:202733221T>C ENST00000367265.3 - 6 1928 c.764A>G c.(763-765)aAt>aGt p.N255S KDM5B_ENST00000367264.2_Missense_Mutation_p.N291S NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 255 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ACGTCTCAGATTATGAGTTCT 0.303000 11 42 0 0 0.002450 0 0 ATXN2 6311 broad.mit.edu 37 12 111926424 111926424 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:111926424G>A ENST00000377617.3 - 15 2737 c.2576C>T c.(2575-2577)cCg>cTg p.P859L ATXN2_ENST00000550104.1_Missense_Mutation_p.P859L|ATXN2_ENST00000542287.2_Missense_Mutation_p.P594L|ATXN2_ENST00000535949.1_Missense_Mutation_p.P570L|ATXN2_ENST00000389153.4_Missense_Mutation_p.P594L NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 859 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 GGGGCTATTCGGCTTGCTGCT 0.463000 12 30 0 0 0.002450 0 0 GON4L 54856 broad.mit.edu 37 1 155744943 155744943 + Nonsense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:155744943G>A ENST00000437809.1 - 17 2322 c.2200C>T c.(2200-2202)Caa>Taa p.Q734* GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Nonsense_Mutation_p.Q734*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q734*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q734* Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 734 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) ATGGAGCTTTGAGCAAAGGTT 0.438000 17 129 0 0 0.002780 0 0 DYM 54808 broad.mit.edu 37 18 46889584 46889584 + Silent SNP A A T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr18:46889584A>T ENST00000269445.6 - 6 898 c.441T>A c.(439-441)ctT>ctA p.L147L DYM_ENST00000578396.1_5'UTR|DYM_ENST00000442713.2_Intron NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 147 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 ATTCTTCCAAAAGATCTTCTG 0.348000 6 27 0 0 0.001168 0 0 TEX15 56154 broad.mit.edu 37 8 30695359 30695359 + Missense_Mutation SNP T T G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr8:30695359T>G ENST00000256246.2 - 3 7366 c.7292A>C c.(7291-7293)aAt>aCt p.N2431T NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2431 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GCTATTTAAATTTTCCTGTTG 0.358000 47 121 0 0 0.013114 0 0 GCNT2 2651 broad.mit.edu 37 6 10529730 10529730 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:10529730C>T ENST00000379597.3 + 1 1142 c.586C>T c.(586-588)Ccc>Tcc p.P196S GCNT2_ENST00000495262.1_Missense_Mutation_p.P196S|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 196 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GCAAGACTTTCCCCTGAAAAC 0.532000 38 34 0 0 0.004878 0 0 PDE5A 8654 broad.mit.edu 37 4 120427082 120427082 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr4:120427082C>T ENST00000354960.3 - 17 2514 c.2195G>A c.(2194-2196)cGa>cAa p.R732Q PDE5A_ENST00000394439.1_Missense_Mutation_p.R680Q|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.R690Q NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 732 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding p.G733delG(1) breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AAATTCTCCTCGCCTCCTACA 0.318000 6 39 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179552943 179552943 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:179552943C>G ENST00000589042.1 - 127 32430 c.32206G>C c.(32206-32208)Gag>Cag p.E10736Q TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9492Q|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10419Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10419 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTCCTCCTCTGCAGATACT 0.398000 19 190 0 0 0.007413 0 0 ANKRD26 22852 broad.mit.edu 37 10 27303483 27303483 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr10:27303483T>C ENST00000376087.4 - 31 4829 c.4664A>G c.(4663-4665)tAt>tGt p.Y1555C ANKRD26_ENST00000436985.2_Missense_Mutation_p.Y1571C|ANKRD26_ENST00000376070.3_Missense_Mutation_p.Y1112C NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1554 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 GAGTTGCTTATATTTTTCCAG 0.284000 17 13 0 0 0.004007 0 0 TRIM32 22954 broad.mit.edu 37 9 119461761 119461761 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr9:119461761C>T ENST00000450136.1 + 2 1901 c.1740C>T c.(1738-1740)ggC>ggT p.G580G ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.G580G|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 580 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 GCATTGCTGGCATGTGTGTGG 0.527000 52 28 0 0 0.014410 0 0 LRP1 4035 broad.mit.edu 37 12 57560805 57560805 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:57560805C>G ENST00000243077.3 + 18 3356 c.2890C>G c.(2890-2892)Cgc>Ggc p.R964G NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 964 LDL-receptor class A 5. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTGTGGGGACCGCTCTGATGA 0.657000 20 87 0 0 0.010504 0 0 CDKN2C 1031 broad.mit.edu 37 1 51439744 51439744 + Silent SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:51439744G>C ENST00000262662.1 + 4 2343 c.309G>C c.(307-309)ggG>ggC p.G103G CDKN2C_ENST00000396148.1_Silent_p.G103G|CDKN2C_ENST00000371761.3_Silent_p.G103G P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) 103 cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(11)|p.?(1) central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1) 23 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) ATAATGAAGGGAACCTGCCCT 0.532000 D """glioma, MM""" 6 59 0 0 0.001984 0 0 ANK2 287 broad.mit.edu 37 4 114095604 114095604 + Silent SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr4:114095604C>A ENST00000357077.4 + 2 170 c.117C>A c.(115-117)gcC>gcA p.A39A ANK2_ENST00000264366.6_Silent_p.A39A|ANK2_ENST00000506722.1_Silent_p.A18A|ANK2_ENST00000394537.3_Silent_p.A39A NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 39 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding 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) TCCGTGCTGCCAGAGCAGGCA 0.433000 6 31 0.000157383 0.000221928 0.003080 1 0 RER1 11079 broad.mit.edu 37 1 2327276 2327276 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:2327276C>T ENST00000605895.1 + 2 180 c.47C>T c.(46-48)tCg>tTg p.S16L RER1_ENST00000378518.1_Missense_Mutation_p.S16L|RER1_ENST00000378512.1_Missense_Mutation_p.S16L|RER1_ENST00000488353.1_Missense_Mutation_p.S16L|RER1_ENST00000378513.3_Missense_Mutation_p.S16L NM_007033.4 NP_008964.3 O15258 RER1_HUMAN retention in endoplasmic reticulum sorting receptor 1 16 retrograde vesicle-mediated transport, Golgi to ER integral to Golgi membrane endometrium(3)|kidney(1) 4 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204) GGGAAACCTTCGGTGGTGTAC 0.413000 14 60 0 0 0.003163 0 0 STAT1 6772 broad.mit.edu 37 2 191862724 191862724 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:191862724G>A ENST00000361099.3 - 9 1030 c.643C>T c.(643-645)Cac>Tac p.H215Y STAT1_ENST00000409465.1_Missense_Mutation_p.H215Y|STAT1_ENST00000540176.1_Missense_Mutation_p.S184L|STAT1_ENST00000392322.3_Missense_Mutation_p.H215Y|STAT1_ENST00000392323.2_Missense_Mutation_p.H217Y NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 215 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) ATTATTTTGTGAACTACTTCC 0.328000 7 72 0 0 0.001984 0 0 CALM3 808 broad.mit.edu 37 19 47111573 47111573 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr19:47111573A>G ENST00000291295.9 + 3 353 c.154A>G c.(154-156)Atg>Gtg p.M52V CALM3_ENST00000599839.1_Missense_Mutation_p.M16V|CALM3_ENST00000598871.1_Missense_Mutation_p.M16V|CALM3_ENST00000597743.1_Missense_Mutation_p.M52V|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000596362.1_Missense_Mutation_p.M52V|CALM3_ENST00000594523.1_Missense_Mutation_p.M16V|CALM3_ENST00000391918.2_Missense_Mutation_p.M16V NM_005184.2 NP_005175.2 P62158 CALM_HUMAN calmodulin 3 (phosphorylase kinase, delta) 52 EF-hand 2. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1) 6 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) GCTGCAGGATATGATCAATGA 0.582000 28 20 0 0 0.007291 0 0 PSMB2 5690 broad.mit.edu 37 1 36068938 36068938 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:36068938C>G ENST00000373237.3 - 6 947 c.536G>C c.(535-537)aGt>aCt p.S179T NM_002794.4 NP_002785.1 P49721 PSB2_HUMAN proteasome (prosome, macropain) subunit, beta type, 2 179 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|large_intestine(2) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) Bortezomib(DB00188) GATTCGAACACTGAAGGTTGG 0.468000 15 74 0 0 0.004007 0 0 FCRLA 84824 broad.mit.edu 37 1 161677051 161677051 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:161677051C>T ENST00000367959.2 + 1 290 c.48C>T c.(46-48)gtC>gtT p.V16V FCRLA_ENST00000546024.1_Silent_p.V16V|FCRLA_ENST00000540926.1_5'UTR|FCRLA_ENST00000367957.2_Silent_p.V16V|FCRLA_ENST00000540521.1_Silent_p.V16V|FCRLA_ENST00000236938.6_Silent_p.V16V|FCRLA_ENST00000367949.2_Silent_p.V16V|FCRLA_ENST00000350710.3_Silent_p.V16V|FCRLA_ENST00000349527.4_5'UTR NM_001184866.1 NP_001171795.1 Q7L513 FCRLA_HUMAN Fc receptor-like A 0 cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) TAAACACAGTCACCATGAAGC 0.463000 6 33 0 0 0.001168 0 0 NRG3 10718 broad.mit.edu 37 10 84625186 84625186 + Missense_Mutation SNP A A T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr10:84625186A>T ENST00000372142.2 + 5 658 c.384A>T c.(382-384)gaA>gaT p.E128D NRG3_ENST00000537893.1_5'UTR|NRG3_ENST00000404547.1_Missense_Mutation_p.E349D|NRG3_ENST00000404576.2_Missense_Mutation_p.E153D|NRG3_ENST00000372141.2_Missense_Mutation_p.E349D|NRG3_ENST00000545131.1_5'UTR|NRG3_ENST00000556918.1_Missense_Mutation_p.E179D NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 349 Poly-Thr.|Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TGGGGATTGAATTCATGGGTA 0.373000 12 50 0 0 0.002450 0 0 FAM47A 158724 broad.mit.edu 37 X 34148619 34148619 + Nonsense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chrX:34148619C>A ENST00000346193.3 - 1 1828 c.1777G>T c.(1777-1779)Gag>Tag p.E593* NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 593 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GAAACGCACTCTTTTGTGCTT 0.468000 15 17 1.3612e-06 1.94126e-06 0.003163 1 0 TUBB4B 10383 broad.mit.edu 37 9 140137606 140137606 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr9:140137606G>A ENST00000340384.4 + 4 1084 c.936G>A c.(934-936)acG>acA p.T312T NM_006088.5 NP_006079.1 P68371 TBB2C_HUMAN tubulin, beta 4B class IVb 312 'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding GCTACCTGACGGTTGCCGCCG 0.567000 4 116 0 0 0.000602 0 0 OR5T2 219464 broad.mit.edu 37 11 55999656 55999656 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr11:55999656C>A ENST00000313264.4 - 1 1081 c.1006G>T c.(1006-1008)Gta>Tta p.V336L NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 336 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) GAGTCTTTTACATCTTTGTTC 0.328000 17 49 1.5739e-10 2.37981e-10 0.004007 1 0 AHNAK2 113146 broad.mit.edu 37 14 105415341 105415341 + Missense_Mutation SNP T T A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr14:105415341T>A ENST00000333244.5 - 7 6566 c.6447A>T c.(6445-6447)aaA>aaT p.K2149N AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2149 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) ACTTGCTGTCTTTGGTAGTCA 0.592000 206 627 0 0 0.014410 0 0 GH2 2689 broad.mit.edu 37 17 61958488 61958488 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr17:61958488C>T ENST00000332800.7 - 3 325 c.192G>A c.(190-192)aaG>aaA p.K64K GH2_ENST00000456543.2_Silent_p.K64K|GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Silent_p.K64K NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 64 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 ACTTCTGCTCCTTCAGGATAT 0.507000 106 79 0 0 0.014410 0 0 SCRIB 23513 broad.mit.edu 37 8 144891191 144891191 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr8:144891191G>A ENST00000356994.2 - 15 1709 c.1703C>T c.(1702-1704)aCg>aTg p.T568M SCRIB_ENST00000377533.3_Missense_Mutation_p.T487M|SCRIB_ENST00000320476.3_Missense_Mutation_p.T568M NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 568 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GAAATGCACCGTGGGCTGTGC 0.657000 18 70 0 0 0.006122 0 0 GRM4 2914 broad.mit.edu 37 6 34101096 34101096 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:34101096G>A ENST00000374181.3 - 1 347 c.178C>T c.(178-180)Cgg>Tgg p.R60W GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.R60W NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 60 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TCTGAGCCCCGGCCATGCACC 0.597000 6 40 0 0 0.001168 0 0 HEXIM2 124790 broad.mit.edu 37 17 43246702 43246702 + Silent SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr17:43246702A>G ENST00000307275.3 + 4 823 c.387A>G c.(385-387)gaA>gaG p.E129E HEXIM2_ENST00000592695.1_Silent_p.E129E|HEXIM2_ENST00000591576.1_Silent_p.E129E|RP13-890H12.2_ENST00000589796.1_RNA NM_144608.1 NP_653209.1 Q96MH2 HEXI2_HUMAN hexamethylene bis-acetamide inducible 2 129 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding endometrium(1)|large_intestine(3)|lung(1) 5 GGGTCCGCGAAGAGATGTTCG 0.627000 7 41 0 0 0.001984 0 0 TP53 7157 broad.mit.edu 37 17 7577580 7577580 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr17:7577580T>C ENST00000420246.2 - 7 833 c.701A>G c.(700-702)tAc>tGc p.Y234C TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 234 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATGTAGTTGTAGTGGATGGT 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 45 25 0 0 0.009718 0 0 ZNF8 7554 broad.mit.edu 37 19 58806142 58806142 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr19:58806142G>T ENST00000196548.5 + 4 1099 c.968G>T c.(967-969)tGc>tTc p.C323F AC010642.1_ENST00000591325.1_3'UTR NM_021089.2 NP_066575.2 P17098 ZNF8_HUMAN zinc finger protein 8 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) AAGTCTTTCTGCCATAGTACA 0.557000 25 23 2.39556e-15 3.7347e-15 0.002780 1 0 GPHN 10243 broad.mit.edu 37 14 67390956 67390956 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr14:67390956G>A ENST00000478722.1 + 8 1896 c.775G>A c.(775-777)Gaa>Aaa p.E259K GPHN_ENST00000315266.5_Intron|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000459628.1_Missense_Mutation_p.E241K|GPHN_ENST00000543237.1_Intron NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 243 Interaction with GABARAP (By similarity). Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) GGCACACGGTGAACAGCCCAT 0.398000 T MLL AL 9 43 0 0 0.008291 0 0 GSG1 83445 broad.mit.edu 37 12 13243618 13243618 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:13243618G>A ENST00000337630.6 - 2 211 c.144C>T c.(142-144)ccC>ccT p.P48P GSG1_ENST00000432710.2_Silent_p.P61P|GSG1_ENST00000457134.2_Silent_p.P48P|GSG1_ENST00000537302.1_Silent_p.P48P|GSG1_ENST00000396310.2_Silent_p.P45P|GSG1_ENST00000396302.3_Silent_p.P48P|GSG1_ENST00000324458.8_Silent_p.P61P|GSG1_ENST00000351606.6_Silent_p.P61P NM_153823.3 NP_722545.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 48 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) TCTCGCACAGGGGCTTGGGCA 0.542000 25 69 0 0 0.004656 0 0 UCHL5 51377 broad.mit.edu 37 1 192985497 192985497 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:192985497G>C ENST00000367455.3 - 11 1209 c.974C>G c.(973-975)gCt>gGt p.A325G UCHL5_ENST00000367451.4_Missense_Mutation_p.A351G|UCHL5_ENST00000367454.1_Missense_Mutation_p.A324G NM_015984.3 NP_057068.1 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 325 Interaction with ADRM1. DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1) 19 GGTTTCCTGAGCTTTCTTTGC 0.289000 12 121 0 0 0.003163 0 0 DUSP27 92235 broad.mit.edu 37 1 167088559 167088559 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:167088559G>A ENST00000361200.2 + 5 677 c.511G>A c.(511-513)Ggc>Agc p.G171S DUSP27_ENST00000271385.5_Missense_Mutation_p.G171S|DUSP27_ENST00000443333.1_Missense_Mutation_p.G171S Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 171 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GCATGGCACCGGCGTTTACAC 0.567000 4 37 0 0 0.009096 0 0 PRB2 653247 broad.mit.edu 37 12 11546897 11546897 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:11546897C>G ENST00000389362.4 - 3 150 c.115G>C c.(115-117)Gca>Cca p.A39P PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGTGGGGGTGCTCCTTGTGGA 0.502000 43 108 0 0 0.014410 0 0 STEAP2 261729 broad.mit.edu 37 7 89854672 89854672 + Silent SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr7:89854672T>C ENST00000287908.3 + 2 669 c.276T>C c.(274-276)gcT>gcC p.A92A STEAP2_ENST00000402625.2_Silent_p.A92A|STEAP2_ENST00000394622.2_Silent_p.A92A|STEAP2_ENST00000394632.1_Silent_p.A92A|STEAP2_ENST00000394629.2_Silent_p.A92A|STEAP2_ENST00000394621.2_Silent_p.A92A|STEAP2_ENST00000394626.1_Silent_p.A92A NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 92 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) TATTTGTTGCTATACACAGAG 0.378000 55 59 0 0 0.014410 0 0 ARPC1B 10095 broad.mit.edu 37 7 98984357 98984357 + Silent SNP C C T rs144704984 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr7:98984357C>T ENST00000451682.1 + 5 423 c.114C>T c.(112-114)agC>agT p.S38S ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000252725.5_Silent_p.S38S|ARPC1B_ENST00000474880.1_3'UTR O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 38 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) ATGAAAAGAGCGGTGCCAAAT 0.572000 26 156 0 0 0.005443 0 0 NIPA2 81614 broad.mit.edu 37 15 23006379 23006379 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr15:23006379G>A ENST00000337451.3 - 8 1537 c.925C>T c.(925-927)Ctg>Ttg p.L309L NIPA2_ENST00000398014.2_Silent_p.L309L|NIPA2_ENST00000539711.2_Silent_p.L290L|NIPA2_ENST00000398013.3_Silent_p.L309L|NIPA2_ENST00000359727.4_Silent_p.L290L NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 309 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) GACACAGGCAGACTTGCTAGA 0.373000 20 30 0 0 0.007413 0 0 CACNG2 10369 broad.mit.edu 37 22 37098605 37098605 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr22:37098605C>G ENST00000300105.6 - 1 998 c.17G>C c.(16-18)cGa>cCa p.R6P NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 6 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 TTGAACACCTCGATCAAACAG 0.468000 13 85 0 0 0.001855 0 0 ADCY2 108 broad.mit.edu 37 5 7757570 7757570 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr5:7757570C>A ENST00000338316.4 + 16 2054 c.1965C>A c.(1963-1965)agC>agA p.S655R ADCY2_ENST00000537121.1_Missense_Mutation_p.S475R NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 655 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 AGCAATGCAGCAAAAAAGCCT 0.488000 73 98 2.40655e-23 3.82307e-23 0.014410 1 0 UNC5C 8633 broad.mit.edu 37 4 96140364 96140364 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr4:96140364G>C ENST00000453304.1 - 9 1749 c.1401C>G c.(1399-1401)aaC>aaG p.N467K UNC5C_ENST00000506749.1_Missense_Mutation_p.N486K NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 467 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAATTGGAGAGTTGGTCATTG 0.522000 56 259 0 0 0.014410 0 0 RORB 6096 broad.mit.edu 37 9 77286707 77286707 + Silent SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr9:77286707C>A ENST00000376896.2 + 9 1726 c.1114C>A c.(1114-1116)Cga>Aga p.R372R RORB_ENST00000396204.2_Silent_p.R383R NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 383 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 TTCATCAGACCGAGCCTGGCT 0.403000 23 19 3.01185e-09 4.44691e-09 0.003954 1 0 VPS13A 23230 broad.mit.edu 37 9 79917956 79917956 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr9:79917956A>G ENST00000360280.3 + 34 4198 c.3938A>G c.(3937-3939)aAt>aGt p.N1313S VPS13A_ENST00000376636.3_Missense_Mutation_p.N1274S|VPS13A_ENST00000376634.4_Missense_Mutation_p.N1313S|VPS13A_ENST00000357409.5_Missense_Mutation_p.N1313S|VPS13A_ENST00000423463.2_3'UTR NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1313 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TTTAATGTAAATGCTCAGCTG 0.378000 76 37 0 0 0.014410 0 0 MMP1 4312 broad.mit.edu 37 11 102666294 102666294 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr11:102666294G>C ENST00000315274.6 - 5 737 c.670C>G c.(670-672)Ctt>Gtt p.L224V WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 224 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) GAGAGTCCAAGAGAATGGCCG 0.423000 26 338 0 0 0.005443 0 0 CEP41 95681 broad.mit.edu 37 7 130039885 130039885 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr7:130039885T>C ENST00000223208.4 - 10 1238 c.968A>G c.(967-969)cAt>cGt p.H323R CEP41_ENST00000541543.1_Intron|CEP41_ENST00000343969.5_Intron NM_001257158.1|NM_018718.2 NP_001244087.1|NP_061188.1 Q9BYV8 CEP41_HUMAN centrosomal protein 41kDa 323 G2/M transition of mitotic cell cycle centrosome|cytosol CTTACTAGGATGATCTGCAGG 0.368000 22 100 0 0 0.014323 0 0 PADI1 29943 broad.mit.edu 37 1 17552556 17552556 + Silent SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:17552556G>C ENST00000375471.4 + 6 647 c.555G>C c.(553-555)ctG>ctC p.L185L NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 185 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) CAATGCTGCTGAGCTGCAATG 0.567000 10 62 0 0 0.006214 0 0 LIPC 3990 broad.mit.edu 37 15 58840724 58840724 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr15:58840724A>G ENST00000414170.3 + 7 1291 c.1004A>G c.(1003-1005)aAg>aGg p.K335R LIPC_ENST00000433326.2_Missense_Mutation_p.K274R|LIPC_ENST00000356113.6_Missense_Mutation_p.K335R|LIPC_ENST00000299022.5_Missense_Mutation_p.K335R P11150 LIPC_HUMAN lipase, hepatic 335 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CCGCGGAGCAAGAGCAAGAGG 0.627000 8 17 0 0 0.003080 0 0 GNPTAB 79158 broad.mit.edu 37 12 102159938 102159938 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:102159938C>G ENST00000299314.7 - 12 1805 c.1543G>C c.(1543-1545)Gct>Cct p.A515P NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 515 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 AACTTATCAGCGAGCCAGGAA 0.483000 31 114 0 0 0.008361 0 0 GTDC1 79712 broad.mit.edu 37 2 144764954 144764954 + Missense_Mutation SNP T T A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:144764954T>A ENST00000409214.1 - 7 948 c.670A>T c.(670-672)Aca>Tca p.T224S GTDC1_ENST00000344850.4_Missense_Mutation_p.T224S|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000241391.5_Missense_Mutation_p.T224S|GTDC1_ENST00000542155.1_Missense_Mutation_p.T224S|GTDC1_ENST00000463875.2_Missense_Mutation_p.T95S|GTDC1_ENST00000392867.3_Missense_Mutation_p.T224S|GTDC1_ENST00000392869.1_Missense_Mutation_p.T224S NM_001006636.3 NP_001006637.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 224 biosynthetic process transferase activity, transferring glycosyl groups central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) CCACAGTGTGTATCACACTCT 0.418000 34 33 0 0 0.013726 0 0 PRNP 5621 broad.mit.edu 37 20 4680247 4680247 + Silent SNP C C A rs11538754 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr20:4680247C>A ENST00000379440.4 + 2 668 c.381C>A c.(379-381)ggC>ggA p.G127G PRNP_ENST00000430350.2_Silent_p.G127G NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2 NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1 P04156 PRIO_HUMAN prion protein 127 Interaction with GRB2, ERI3 and SYN1 (By similarity). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) GCCTTGGCGGCTACATGCTGG 0.557000 32 37 7.65355e-07 1.09774e-06 0.012213 1 0 PHF10 55274 broad.mit.edu 37 6 170112526 170112526 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:170112526C>T ENST00000339209.4 - 8 1036 c.913G>A c.(913-915)Gaa>Aaa p.E305K PHF10_ENST00000366780.4_Missense_Mutation_p.E303K NM_018288.3|NM_133325.2 NP_060758.2|NP_579866.2 Q8WUB8 PHF10_HUMAN PHD finger protein 10 305 Essential to induce neural progenitor proliferation (By similarity). nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1) 14 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) CGACCATCTTCGCCATCATCT 0.458000 18 57 0 0 0.007413 0 0 MAST4 375449 broad.mit.edu 37 5 66459360 66459360 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr5:66459360G>A ENST00000404260.3 + 29 4670 c.4362G>A c.(4360-4362)tcG>tcA p.S1454S MAST4_ENST00000261569.7_Silent_p.S1257S|MAST4_ENST00000405643.1_Silent_p.S1272S|MAST4_ENST00000403666.1_Silent_p.S1262S|MAST4_ENST00000403625.2_Silent_p.S1451S O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1454 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGAAGCTGTCGCCCTCTTACG 0.667000 10 12 0 0 0.006214 0 0 KIAA1429 25962 broad.mit.edu 37 8 95531705 95531705 + Splice_Site SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr8:95531705C>G ENST00000297591.5 - 9 2097 c.e9-1 KIAA1429_ENST00000437199.1_Splice_Site|KIAA1429_ENST00000421249.2_Splice_Site NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GTGAAGATATCTGTGGAAGAG 0.373000 10 57 0 0 0.006214 0 0 PGBD1 84547 broad.mit.edu 37 6 28251760 28251760 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:28251760G>A ENST00000405948.2 + 2 590 c.170G>A c.(169-171)gGa>gAa p.G57E PGBD1_ENST00000259883.3_Missense_Mutation_p.G57E NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 57 SCAN box. viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 GAGGCTCACGGACCCCAGGAA 0.587000 53 52 0 0 0.014410 0 0 PACS1 55690 broad.mit.edu 37 11 65960978 65960978 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr11:65960978G>C ENST00000320580.4 + 2 411 c.378G>C c.(376-378)aaG>aaC p.K126N NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 126 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 TGACCCTGAAGAAACTCGTCA 0.458000 7 27 0 0 0.003080 0 0 MAP4K2 5871 broad.mit.edu 37 11 64563761 64563761 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr11:64563761G>T ENST00000294066.2 - 24 1826 c.1735C>A c.(1735-1737)Cag>Aag p.Q579K MAP4K2_ENST00000377350.3_Missense_Mutation_p.Q571K NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 579 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 ATGATGCGCTGGGTGAGGCGG 0.642000 18 44 9.16793e-09 1.3457e-08 0.004990 1 0 PIP5KL1 138429 broad.mit.edu 37 9 130684360 130684360 + Silent SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr9:130684360C>G ENST00000388747.4 - 10 995 c.951G>C c.(949-951)tcG>tcC p.S317S PIP5KL1_ENST00000300432.3_Silent_p.S114S NM_001135219.1 NP_001128691.1 Q5T9C9 PI5L1_HUMAN phosphatidylinositol-4-phosphate 5-kinase-like 1 317 PIPK. cytoplasm|membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1) 8 TTTGGGCTCTCGACTCTTCCG 0.677000 2 7 0 0 0.004672 0 0 WIF1 11197 broad.mit.edu 37 12 65461539 65461539 + Silent SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:65461539G>C ENST00000286574.4 - 5 944 c.570C>G c.(568-570)ggC>ggG p.G190G NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 190 EGF-like 1. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CATTACAAAAGCCTCCATTTC 0.507000 T HMGA2 pleomorphic salivary gland adenoma 9 26 0 0 0.004482 0 0 APOB 338 broad.mit.edu 37 2 21224635 21224635 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:21224635C>G ENST00000233242.1 - 29 13786 c.13659G>C c.(13657-13659)aaG>aaC p.K4553N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4553 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGGAGCAAGCTTCATGTAGG 0.348000 14 76 0 0 0.001855 0 0 CDHR1 92211 broad.mit.edu 37 10 85972970 85972970 + Missense_Mutation SNP C C T rs148280890 byFrequency TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr10:85972970C>T ENST00000372117.3 + 16 2009 c.1906C>T c.(1906-1908)Cgc>Tgc p.R636C CDHR1_ENST00000440770.2_Missense_Mutation_p.R340C|CDHR1_ENST00000332904.3_Missense_Mutation_p.R636C NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 636 Cadherin 6. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GAATTCCATCCGCTCCCTGGA 0.587000 25 74 0 0 0.003330 0 0 RPL10A 4736 broad.mit.edu 37 6 35436736 35436736 + Silent SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:35436736G>T ENST00000322203.6 + 3 120 c.93G>T c.(91-93)acG>acT p.T31T RPL10A_ENST00000467020.1_3'UTR NM_007104.4 NP_009035.3 P62906 RL10A_HUMAN ribosomal protein L10a 31 anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit RNA binding|structural constituent of ribosome p.T31T(1) breast(1)|large_intestine(2)|ovary(1) 4 TCCTGGAGACGGTGGAGTTGC 0.647000 18 19 1.01871e-10 1.54968e-10 0.008871 1 0 LCE2A 353139 broad.mit.edu 37 1 152671632 152671632 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:152671632C>T ENST00000368779.1 + 2 306 c.255C>T c.(253-255)ccC>ccT p.P85P NM_178428.3 NP_848515.1 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 85 Cys-rich. keratinization breast(1)|large_intestine(1)|liver(2)|lung(4) 8 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACCAGAGCCCCGATTGTTGTG 0.657000 120 82 0 0 0.014410 0 0 TNN 63923 broad.mit.edu 37 1 175097245 175097245 + Silent SNP T T G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:175097245T>G ENST00000239462.4 + 14 3236 c.3123T>G c.(3121-3123)ctT>ctG p.L1041L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1041 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTGTCTCCCTTGTTGCCTTTA 0.537000 8 57 0 0 0.003080 0 0 NABP1 64859 broad.mit.edu 37 2 192548983 192548983 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:192548983A>G ENST00000410026.1 + 5 421 c.166A>G c.(166-168)Atg>Gtg p.M56V NABP1_ENST00000425611.2_Missense_Mutation_p.M136V|NABP1_ENST00000409510.1_Missense_Mutation_p.M56V NM_001031716.2|NM_001254736.1 NP_001026886.1|NP_001241665.1 nucleic acid binding protein 1 GAATAATTCCATGAATAGTAA 0.299000 25 83 0 0 0.005443 0 0 ZNF181 339318 broad.mit.edu 37 19 35232698 35232698 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr19:35232698G>T ENST00000392232.3 + 6 1712 c.1544G>T c.(1543-1545)aGt>aTt p.S515I ZNF181_ENST00000492450.1_Missense_Mutation_p.S471I|ZNF181_ENST00000459757.1_Missense_Mutation_p.S470I Q2M3W8 ZN181_HUMAN zinc finger protein 181 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AAAGCCTTTAGTCATAGGTCA 0.388000 23 56 6.32553e-13 9.74054e-13 0.004656 1 0 ZNF655 79027 broad.mit.edu 37 7 99170398 99170398 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr7:99170398C>G ENST00000424881.1 + 4 992 c.772C>G c.(772-774)Cag>Gag p.Q258E ZNF655_ENST00000493277.1_Missense_Mutation_p.Q258E|ZNF655_ENST00000252713.4_Missense_Mutation_p.Q223E|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.Q223E|ZNF655_ENST00000425063.1_3'UTR NM_001083956.1|NM_001085368.1 NP_001077425.1|NP_001078837.1 Q8N720 ZN655_HUMAN zinc finger protein 655 223 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AATTTTCCATCAGAGCTCAGC 0.393000 5 38 0 0 0.000602 0 0 VWC2L 402117 broad.mit.edu 37 2 215440475 215440475 + Silent SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:215440475T>C ENST00000312504.5 + 4 1402 c.600T>C c.(598-600)tgT>tgC p.C200C AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000412896.1_RNA NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 200 extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 TCTGTCATTGTCACAACGGGG 0.468000 3 163 0 0 0.004672 0 0 RIF1 55183 broad.mit.edu 37 2 152285383 152285383 + Missense_Mutation SNP A A C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:152285383A>C ENST00000243326.4 + 8 1355 c.872A>C c.(871-873)aAg>aCg p.K291T RIF1_ENST00000430328.2_Missense_Mutation_p.K291T|RIF1_ENST00000433166.2_Missense_Mutation_p.K260T|RIF1_ENST00000428287.2_Missense_Mutation_p.K291T|RIF1_ENST00000453091.2_Missense_Mutation_p.K291T|RIF1_ENST00000444746.2_Missense_Mutation_p.K291T Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 291 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) ATGATTAAAAAGATAGCTTTT 0.323000 8 24 0 0 0.003080 0 0 COL27A1 85301 broad.mit.edu 37 9 117044557 117044557 + Splice_Site SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr9:117044557G>C ENST00000356083.3 + 38 4109 c.3717_splice c.e38-1 p.G1240_splice NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1240 Collagen-like 10.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CTCTCTTCAGGGTCCTGAAGG 0.582000 70 40 0 0 0.014410 0 0 SV2A 9900 broad.mit.edu 37 1 149884914 149884914 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:149884914C>T ENST00000369146.3 - 2 969 c.479G>A c.(478-480)gGc>gAc p.G160D SV2A_ENST00000369145.1_Missense_Mutation_p.G160D NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 160 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GCGGCCGTGGCCACACTCCCG 0.617000 57 63 0 0 0.014410 0 0 PFKM 5213 broad.mit.edu 37 12 48526750 48526750 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:48526750C>A ENST00000340802.6 + 7 774 c.550C>A c.(550-552)Ctc>Atc p.L184I PFKM_ENST00000395233.2_Missense_Mutation_p.L113I|PFKM_ENST00000551804.1_Missense_Mutation_p.L113I|PFKM_ENST00000312352.7_Missense_Mutation_p.L113I|PFKM_ENST00000547587.1_Missense_Mutation_p.L113I|PFKM_ENST00000359794.5_Missense_Mutation_p.L113I NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 113 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GATCACCAATCTCTGTGTCAT 0.567000 14 60 0.00244969 0.00341596 0.002450 1 0 DMBT1 1755 broad.mit.edu 37 10 124402660 124402660 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr10:124402660G>A ENST00000368909.3 + 53 7094 c.6988G>A c.(6988-6990)Gga>Aga p.G2330R DMBT1_ENST00000359586.6_Missense_Mutation_p.G1050R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1702R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G2320R|DMBT1_ENST00000368955.3_Missense_Mutation_p.G2320R|DMBT1_ENST00000338354.3_Missense_Mutation_p.G2330R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1702R NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2330 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGACACCTACGGACCCTACTC 0.552000 16 89 0 0 0.006122 0 0 FOXJ3 22887 broad.mit.edu 37 1 42645494 42645494 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:42645494G>A ENST00000372572.1 - 15 2067 c.1756C>T c.(1756-1758)Cat>Tat p.H586Y FOXJ3_ENST00000372573.1_Missense_Mutation_p.H586Y|FOXJ3_ENST00000361776.1_Missense_Mutation_p.H552Y|FOXJ3_ENST00000361346.1_Missense_Mutation_p.H586Y|FOXJ3_ENST00000372571.1_Missense_Mutation_p.H100Y|FOXJ3_ENST00000545068.1_Missense_Mutation_p.H586Y NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 586 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCTCTGTGATGGCCTGGAAGG 0.493000 44 251 0 0 0.010771 0 0 HCAR3 8843 broad.mit.edu 37 12 123200718 123200718 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:123200718G>A ENST00000528880.2 - 1 721 c.567C>T c.(565-567)caC>caT p.H189H HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 189 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) ACATAGCTTCGTGCCACCGGA 0.537000 17 66 0 0 0.004990 0 0 SPATS2L 26010 broad.mit.edu 37 2 201303979 201303979 + Missense_Mutation SNP A A T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:201303979A>T ENST00000409988.3 + 7 1103 c.580A>T c.(580-582)Aca>Tca p.T194S SPATS2L_ENST00000409140.3_Missense_Mutation_p.T194S|SPATS2L_ENST00000409151.1_Missense_Mutation_p.T202S|SPATS2L_ENST00000451764.2_Missense_Mutation_p.T194S|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000358677.4_Missense_Mutation_p.T194S|SPATS2L_ENST00000409755.3_Missense_Mutation_p.T224S|SPATS2L_ENST00000409718.1_Missense_Mutation_p.T194S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.T134S NM_001100422.1 NP_001093892.1 Q9NUQ6 SPS2L_HUMAN spermatogenesis associated, serine-rich 2-like 194 cytoplasm|nucleolus endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 10 TAAGGCAAAAACATCTCCTGT 0.443000 25 21 0 0 0.003330 0 0 ROS1 6098 broad.mit.edu 37 6 117641132 117641132 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:117641132G>C ENST00000368508.3 - 36 6037 c.5839C>G c.(5839-5841)Ctg>Gtg p.L1947V GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Missense_Mutation_p.L1941V NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1947 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AAGAGACGCAGAGTCAGTTTT 0.463000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 17 35 0 0 0.004007 0 0 ZBTB2 57621 broad.mit.edu 37 6 151694704 151694704 + Silent SNP C C T rs142578824 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:151694704C>T ENST00000325144.4 - 2 209 c.69G>A c.(67-69)ctG>ctA p.L23L NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) TGCAGTCACACAGGAAACCAA 0.388000 7 32 0 0 0.001984 0 0 FLOT1 10211 broad.mit.edu 37 6 30698343 30698343 + Splice_Site SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:30698343C>G ENST00000376389.3 - 11 1172 c.e11-1 FLOT1_ENST00000456573.2_Splice_Site NM_005803.2 NP_005794.1 O75955 FLOT1_HUMAN flotillin 1 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 13 CCCCACGCATCTGAGGGTTAA 0.562000 43 183 0 0 0.007835 0 0 PNPLA6 10908 broad.mit.edu 37 19 7619913 7619913 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr19:7619913C>T ENST00000221249.6 + 25 3086 c.2655C>T c.(2653-2655)caC>caT p.H885H PNPLA6_ENST00000545201.2_Silent_p.H858H|PNPLA6_ENST00000600737.1_Silent_p.H923H|PNPLA6_ENST00000450331.3_Silent_p.H885H|PNPLA6_ENST00000414982.3_Silent_p.H933H NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 924 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 GGCACCTGCACCTGCGCTGTC 0.711000 16 10 0 0 0.004990 0 0 ZAN 7455 broad.mit.edu 37 7 100361512 100361512 + RNA SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr7:100361512G>C ENST00000542585.1 + 0 4218 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTCTGTGGACGGCTGGTCGAC 0.602000 68 79 0 0 0.014410 0 0 KDM4A 9682 broad.mit.edu 37 1 44156525 44156525 + Nonsense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:44156525G>T ENST00000372396.3 + 14 2181 c.2047G>T c.(2047-2049)Gga>Tga p.G683* NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 683 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 GGTTGAATTTGGAGGCTTTAA 0.478000 7 663 0.00621372 0.00856947 0.006214 1 0 CYP2W1 54905 broad.mit.edu 37 7 1026395 1026395 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr7:1026395G>A ENST00000340150.6 + 5 635 c.613G>A c.(613-615)Gtg>Atg p.V205M CYP2W1_ENST00000308919.7_Missense_Mutation_p.V261M Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 261 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GGGGGACCCCGTGTGCAGCTA 0.682000 7 28 0 0 0.001984 0 0 ELOVL6 79071 broad.mit.edu 37 4 110980841 110980841 + Silent SNP T T G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr4:110980841T>G ENST00000394607.3 - 4 454 c.291A>C c.(289-291)tcA>tcC p.S97S ELOVL6_ENST00000506461.1_5'UTR|ELOVL6_ENST00000302274.3_Silent_p.S97S Q9H5J4 ELOV6_HUMAN ELOVL fatty acid elongase 6 97 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) GGTCACAAACTGACTGCTTCA 0.413000 10 40 0 0 0.010729 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 9 14 0 0 0.006214 0 0 MANSC1 54682 broad.mit.edu 37 12 12483163 12483163 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:12483163C>A ENST00000535902.1 - 4 1657 c.1094G>T c.(1093-1095)gGc>gTc p.G365V MANSC1_ENST00000396349.3_Missense_Mutation_p.G331V|MANSC1_ENST00000545735.1_Missense_Mutation_p.G284V Q9H8J5 MANS1_HUMAN MANSC domain containing 1 365 integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) GGAGGAACTGCCTGGACTGGC 0.488000 18 48 1.99824e-07 2.88251e-07 0.004990 1 0 GCC2 9648 broad.mit.edu 37 2 109086566 109086566 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:109086566G>C ENST00000309863.6 + 6 1495 c.781G>C c.(781-783)Gca>Cca p.A261P GCC2_ENST00000485546.1_3'UTR NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 261 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 CCAGATTGAAGCATCAGCTAA 0.358000 26 91 0 0 0.004656 0 0 STAB2 55576 broad.mit.edu 37 12 104063402 104063402 + Silent SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:104063402A>G ENST00000388887.2 + 21 2460 c.2256A>G c.(2254-2256)ggA>ggG p.G752G NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 752 EGF-like 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CAGGAAATGGACAGGTGAATA 0.413000 13 67 0 0 0.001855 0 0 LRP10 26020 broad.mit.edu 37 14 23346653 23346653 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr14:23346653G>C ENST00000359591.4 + 7 2750 c.2059G>C c.(2059-2061)Gat>Cat p.D687H LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Intron NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 687 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GGCCCTGGAAGATGAGGACGA 0.682000 12 46 0 0 0.013537 0 0 IGHG3 3502 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C C T rs2983776 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr14:106237582C>T ENST00000390551.2 - 0 160 GTAGGACAGCCGGGAAGGTGT 0.637000 4 77 0 0 0.000602 0 0 PSG8 440533 broad.mit.edu 37 19 43259226 43259226 + Missense_Mutation SNP G G C rs150991804 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr19:43259226G>C ENST00000404209.4 - 4 998 c.902C>G c.(901-903)aCg>aGg p.T301R PSG8_ENST00000406636.3_Missense_Mutation_p.T179R|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.T208R|PSG8_ENST00000306511.4_Missense_Mutation_p.T301R NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 301 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TTCATTTCTCGTGACACTGGG 0.478000 92 77 0 0 0.014410 0 0 PCLO 27445 broad.mit.edu 37 7 82545296 82545296 + Silent SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr7:82545296A>G ENST00000423517.2 - 7 12343 c.12006T>C c.(12004-12006)ctT>ctC p.L4002L PCLO_ENST00000437081.1_Silent_p.L722L|PCLO_ENST00000333891.8_Silent_p.L4002L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3933 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACTTACTACCAAGATGGGAAA 0.398000 141 174 0 0 0.014410 0 0 SON 6651 broad.mit.edu 37 21 34926744 34926744 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr21:34926744C>T ENST00000356577.4 + 3 5682 c.5207C>T c.(5206-5208)cCg>cTg p.P1736L SON_ENST00000290239.6_Missense_Mutation_p.P1736L|SON_ENST00000300278.4_Missense_Mutation_p.P1736L|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P1736L NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 1736 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TTAGTGAGACCGTTACTTCCT 0.453000 21 77 0 0 0.014323 0 0 ANKHD1 54882 broad.mit.edu 37 5 139903729 139903729 + Nonsense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr5:139903729G>T ENST00000297183.6 + 25 4520 c.4396G>T c.(4396-4398)Gaa>Taa p.E1466* ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.E1466*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.E1466* NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) gaaaaaagaggaacagaaaag 0.368000 9 14 1.76689e-08 2.56353e-08 0.006214 1 0 PRAMEF16 654348 broad.mit.edu 37 1 13495995 13495995 + Silent SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:13495995C>A ENST00000376121.3 + 2 346 c.316C>A c.(316-318)Cgg>Agg p.R106R NM_001045480.1 NP_001038945.1 Q5VWM1 PRA16_HUMAN PRAME family member 16 106 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCTGGATTTGCGGGATGTTGA 0.522000 59 54 3.33908e-46 5.33827e-46 0.014410 1 0 PRDX2 7001 broad.mit.edu 37 19 12912075 12912075 + Translation_Start_Site SNP T T A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr19:12912075T>A ENST00000301522.2 - 2 129 c.1A>T c.(1-3)Atg>Ttg p.M1L PRDX2_ENST00000334482.5_Start_Codon_SNP_p.M1L|PRDX2_ENST00000435703.1_Start_Codon_SNP_p.M1L|CTD-2659N19.10_ENST00000585496.1_RNA NM_005809.4 NP_005800.3 P32119 PRDX2_HUMAN peroxiredoxin 2 1 anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 CCGGAGGCCATGACTGAAAGC 0.617000 5 5 0 0 0.000602 0 0 SEMA6D 80031 broad.mit.edu 37 15 48060874 48060874 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr15:48060874C>G ENST00000316364.5 + 18 2301 c.1862C>G c.(1861-1863)tCt>tGt p.S621C SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S621C|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S602C|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000358066.4_Intron NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 621 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) CTGACAAGCTCTCGGAAATTT 0.428000 35 55 0 0 0.003755 0 0 DSP 1832 broad.mit.edu 37 6 7585071 7585071 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:7585071A>G ENST00000379802.3 + 24 7917 c.7576A>G c.(7576-7578)Agt>Ggt p.S2526G DSP_ENST00000418664.2_Missense_Mutation_p.S1927G NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2526 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAAGACAGGCAGTCAGTATGA 0.473000 24 90 0 0 0.002780 0 0 SVOP 55530 broad.mit.edu 37 12 109328032 109328032 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:109328032G>C ENST00000299134.5 - 9 790 c.791C>G c.(790-792)tCt>tGt p.S264C NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 CGTAGTAAGAGAATGCATTGG 0.493000 4 10 0 0 0.009096 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64641512 64641512 + Missense_Mutation SNP T T G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr3:64641512T>G ENST00000498707.1 - 5 1351 c.1009A>C c.(1009-1011)Att>Ctt p.I337L ADAMTS9_ENST00000459780.1_Missense_Mutation_p.I337L|ADAMTS9_ENST00000295903.4_Intron NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 337 Peptidase M12B. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ACAATATTAATTAAATTTCCA 0.294000 18 6 0 0 0.006122 0 0 PRB2 653247 broad.mit.edu 37 12 11546907 11546907 + Missense_Mutation SNP A A C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr12:11546907A>C ENST00000389362.4 - 3 140 c.105T>G c.(103-105)aaT>aaG p.N35K PRB2_ENST00000545829.1_5'UTR|PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CTCCTTGTGGATTTCCTGGAG 0.488000 46 97 0 0 0.014410 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20169952 20169952 + RNA SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr15:20169952G>T ENST00000338912.5 - 0 319 CGTGTCCTCAGATCTCAGGCT 0.522000 94 123 6.38947e-70 1.02805e-69 0.014410 1 0 F5 2153 broad.mit.edu 37 1 169510609 169510609 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:169510609A>G ENST00000367796.3 - 13 3935 c.3734T>C c.(3733-3735)cTt>cCt p.L1245P F5_ENST00000367797.3_Missense_Mutation_p.L1240P P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1240 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTCTGGAGAAAGGGTTGTATG 0.527000 4 346 0 0 0.009096 0 0 HLA-G 3135 broad.mit.edu 37 6 29796426 29796426 + Silent SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:29796426G>T ENST00000428701.1 + 4 628 c.450G>T c.(448-450)ctG>ctT p.L150L HLA-G_ENST00000360323.6_Silent_p.L150L|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Silent_p.L155L|HLA-G_ENST00000376815.3_Intron NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 150 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 ACCTCGCCCTGAACGAGGACC 0.617000 22 94 3.8784e-16 6.08425e-16 0.012319 1 0 UBN1 29855 broad.mit.edu 37 16 4903155 4903155 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr16:4903155G>C ENST00000396658.4 + 1 940 c.237G>C c.(235-237)caG>caC p.Q79H UBN1_ENST00000262376.6_Missense_Mutation_p.Q79H|UBN1_ENST00000590769.1_Missense_Mutation_p.Q79H|UBN1_ENST00000545171.1_Missense_Mutation_p.Q79H NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 79 Sufficient for interaction with HIRA. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 AAGGCCTTCAGCCTGGAGATA 0.537000 11 38 0 0 0.010729 0 0 OR2T2 401992 broad.mit.edu 37 1 248616736 248616736 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr1:248616736C>T ENST00000342927.3 + 1 660 c.638C>T c.(637-639)tCt>tTt p.S213F NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCCCTCTATCTGTCATCTCT 0.537000 9 143 0 0 0.010729 0 0 LRP11 84918 broad.mit.edu 37 6 150174187 150174187 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:150174187G>A ENST00000239367.2 - 2 728 c.723C>T c.(721-723)gtC>gtT p.V241V LRP11_ENST00000367368.2_Silent_p.V241V|LRP11_ENST00000546019.1_5'UTR NM_032832.5 NP_116221.3 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 11 241 PKD. integral to membrane receptor activity cervix(1)|kidney(5)|large_intestine(1)|lung(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) ACTCATACTGGACGATGGCGT 0.562000 20 39 0 0 0.008871 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761382 92761382 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr7:92761382C>T ENST00000318238.4 - 5 5119 c.3903G>A c.(3901-3903)agG>agA p.R1301R SAMD9L_ENST00000437805.1_Silent_p.R1301R|SAMD9L_ENST00000411955.1_Silent_p.R1301R NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1301 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTGTGTATTTCCTGAAACAAC 0.343000 23 51 0 0 0.012319 0 0 ABLIM2 84448 broad.mit.edu 37 4 8009911 8009911 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr4:8009911A>G ENST00000318888.4 - 15 1467 c.596T>C c.(595-597)cTg>cCg p.L199P ABLIM2_ENST00000505872.1_Missense_Mutation_p.L412P|ABLIM2_ENST00000428004.2_Missense_Mutation_p.L424P|ABLIM2_ENST00000546334.1_Missense_Mutation_p.L423P|ABLIM2_ENST00000545242.1_Missense_Mutation_p.L464P|ABLIM2_ENST00000407564.3_Missense_Mutation_p.L413P|ABLIM2_ENST00000514025.1_Missense_Mutation_p.L199P|ABLIM2_ENST00000361737.5_Missense_Mutation_p.L423P|ABLIM2_ENST00000447017.2_Missense_Mutation_p.L498P|ABLIM2_ENST00000341937.5_Missense_Mutation_p.L464P|ABLIM2_ENST00000361581.5_Missense_Mutation_p.L464P|ABLIM2_ENST00000296372.8_Missense_Mutation_p.L465P Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 464 LIM zinc-binding 3. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 CTTGAGCATCAGCCAGCTGCT 0.527000 3 73 0 0 0.004672 0 0 BCL9L 283149 broad.mit.edu 37 11 118773004 118773004 + Missense_Mutation SNP G G A rs147951163 byFrequency TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr11:118773004G>A ENST00000334801.3 - 6 2412 c.1448C>T c.(1447-1449)cCg>cTg p.P483L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 483 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) ATGCTCCAGCGGGGGGCCCCC 0.642000 84 81 0 0 0.014410 0 0 CLEC4E 26253 broad.mit.edu 37 12 8693386 8693386 + Nonsense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:8693386G>T ENST00000299663.3 - 1 173 c.8C>A c.(7-9)tCa>tAa p.S3* CLEC4E_ENST00000545274.1_Nonsense_Mutation_p.S3*|CLEC4E_ENST00000446457.2_Nonsense_Mutation_p.S3* NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 3 integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) TGATTTAGATGAATTCATTTT 0.363000 12 43 0.00185496 0.00304296 0.001855 1 0 EYA1 2138 broad.mit.edu 37 8 72229804 72229804 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr8:72229804T>C ENST00000340726.3 - 7 1178 c.539A>G c.(538-540)tAc>tGc p.Y180C EYA1_ENST00000388743.2_Missense_Mutation_p.Y179C|EYA1_ENST00000419131.1_Missense_Mutation_p.Y175C|EYA1_ENST00000388741.2_Missense_Mutation_p.Y146C|EYA1_ENST00000303824.7_Missense_Mutation_p.Y174C|EYA1_ENST00000388740.3_Missense_Mutation_p.Y147C|EYA1_ENST00000388742.4_Missense_Mutation_p.Y180C NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 180 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) CTGGTAGCTGTATGGTGCCTG 0.438000 45 94 0 0 0.003214 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75553701 75553701 + Missense_Mutation SNP A A C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr10:75553701A>C ENST00000604729.1 + 12 2821 c.2524A>C c.(2524-2526)Aca>Cca p.T842P ZSWIM8_ENST00000605216.1_Missense_Mutation_p.T842P|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.T842P|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.T809P|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.T842P|ZSWIM8_ENST00000431225.1_3'UTR zinc finger, SWIM-type containing 8 CTTCCTGTTGACAGTGCTAAG 0.562000 7 20 0 0 0.001984 0 0 HERC3 8916 broad.mit.edu 37 4 89583677 89583677 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr4:89583677C>T ENST00000402738.1 + 11 1481 c.1242C>T c.(1240-1242)ctC>ctT p.L414L HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Silent_p.L414L NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 414 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GACAAAAACTCTCAGAACACA 0.343000 5 32 0 0 0.000602 0 0 SMTN 6525 broad.mit.edu 37 22 31485785 31485785 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr22:31485785T>C ENST00000333137.7 + 7 790 c.572T>C c.(571-573)cTg>cCg p.L191P SMTN_ENST00000358743.1_Missense_Mutation_p.L191P|SMTN_ENST00000347557.2_Missense_Mutation_p.L191P NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 191 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 ACACTCCTGCTGCGAGCCCCA 0.637000 14 51 0 0 0.003163 0 0 HSD17B6 8630 broad.mit.edu 37 12 57167654 57167654 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:57167654G>A ENST00000554643.1 + 3 367 c.18G>A c.(16-18)gcG>gcA p.A6A HSD17B6_ENST00000554150.1_Silent_p.A6A|HSD17B6_ENST00000555805.1_Silent_p.A6A|HSD17B6_ENST00000322165.1_Silent_p.A6A|HSD17B6_ENST00000555159.1_Silent_p.A6A O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 6 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Succinic acid(DB00139) TCTACCTGGCGGCCTTCGTGG 0.463000 14 65 0 0 0.003163 0 0 CSNK1D 1453 broad.mit.edu 37 17 80211118 80211118 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr17:80211118G>A ENST00000314028.6 - 4 688 c.339C>T c.(337-339)atC>atT p.I113I CSNK1D_ENST00000398519.5_Silent_p.I113I|CSNK1D_ENST00000392334.2_Silent_p.I113I|CSNK1D_ENST00000578904.1_5'UTR NM_001893.4 NP_001884.2 P48730 KC1D_HUMAN casein kinase 1, delta 113 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) CGATGCGACTGATCTGTGAGC 0.552000 55 40 0 0 0.003610 0 0 CCP110 9738 broad.mit.edu 37 16 19557137 19557137 + Splice_Site SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr16:19557137A>G ENST00000396212.2 + 12 3139 c.e12-1 CCP110_ENST00000396208.2_Splice_Site|CCP110_ENST00000381396.5_Splice_Site NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 TGTATATTAAAGGATAAAATG 0.338000 24 52 0 0 0.005443 0 0 COCH 1690 broad.mit.edu 37 14 31346874 31346874 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr14:31346874C>G ENST00000396618.3 + 4 235 c.179C>G c.(178-180)tCt>tGt p.S60C COCH_ENST00000216361.4_Missense_Mutation_p.S60C|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000475087.1_Missense_Mutation_p.S60C|RP11-829H16.3_ENST00000555108.1_RNA NM_004086.2 NP_004077.1 O43405 COCH_HUMAN cochlin 60 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) GAGGAATTCTCTGTGTATGGG 0.507000 9 34 0 0 0.004482 0 0 CSMD3 114788 broad.mit.edu 37 8 113599348 113599348 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr8:113599348C>G ENST00000297405.5 - 23 4076 c.3832G>C c.(3832-3834)Gga>Cga p.G1278R CSMD3_ENST00000455883.2_Missense_Mutation_p.G1174R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1278R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1238R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1278 CUB 7. integral to membrane|plasma membrane p.G1238*(1)|p.G1278*(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATATTGATTCCCTTTCCTGCT 0.338000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 46 0 0 0.003330 0 0 ZNF322 79692 broad.mit.edu 37 6 26638669 26638669 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:26638669A>G ENST00000415922.2 - 4 758 c.113T>C c.(112-114)aTa>aCa p.I38T ZNF322_ENST00000471278.1_Missense_Mutation_p.I38T NM_024639.4 NP_078915.2 Q6U7Q0 Z322A_HUMAN zinc finger protein 322 38 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ATGACCATCTATCTGAATAAT 0.343000 37 179 0 0 0.003610 0 0 PUS1 80324 broad.mit.edu 37 12 132425944 132425944 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:132425944C>G ENST00000542167.2 + 4 1246 c.493C>G c.(493-495)Cag>Gag p.Q165E PUS1_ENST00000440818.2_Missense_Mutation_p.Q190E|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000376649.3_Missense_Mutation_p.Q218E|PUS1_ENST00000443358.2_Missense_Mutation_p.Q190E Q9Y606 TRUA_HUMAN pseudouridylate synthase 1 218 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 11 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) CCGGGACGTTCAGGATGAGAC 0.592000 8 48 0 0 0.003080 0 0 HERC3 8916 broad.mit.edu 37 4 89583679 89583679 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr4:89583679C>T ENST00000402738.1 + 11 1483 c.1244C>T c.(1243-1245)tCa>tTa p.S415L HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Missense_Mutation_p.S415L NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 415 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) CAAAAACTCTCAGAACACAAC 0.348000 5 33 0 0 0.000602 0 0 GNPTAB 79158 broad.mit.edu 37 12 102159938 102159938 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:102159938C>G ENST00000299314.7 - 12 1805 c.1543G>C c.(1543-1545)Gct>Cct p.A515P NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 515 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 AACTTATCAGCGAGCCAGGAA 0.483000 31 114 0 0 0.001512 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 140744 140744 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr5:140744T>C ENST00000283426.6 + 1 372 c.322T>C c.(322-324)Tcc>Ccc p.S108P NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 108 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CTCAGCAGGCTCCAGGCCTGG 0.647000 10 63 0 0 0.000978 0 0 LMBRD1 55788 broad.mit.edu 37 6 70386390 70386390 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:70386390G>A ENST00000370577.3 - 15 1690 c.1461C>T c.(1459-1461)ttC>ttT p.F487F LMBRD1_ENST00000370570.1_Silent_p.F414F NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 487 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 TGAAGAACCAGAACTTGTGAA 0.383000 4 24 0 0 0.000602 0 0 STOML1 9399 broad.mit.edu 37 15 74284510 74284510 + Nonsense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr15:74284510G>A ENST00000316900.5 - 1 179 c.55C>T c.(55-57)Cag>Tag p.Q19* STOML1_ENST00000561656.1_Intron|STOML1_ENST00000541638.1_5'UTR|STOML1_ENST00000359750.4_Nonsense_Mutation_p.Q19*|STOML1_ENST00000564777.1_Nonsense_Mutation_p.Q19*|STOML1_ENST00000316911.6_Nonsense_Mutation_p.Q19* NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4 NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 19 integral to membrane sterol binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 CTCGACTGCTGGAAGCGGTCA 0.716000 7 55 0 0 0.001984 0 0 SHANK2 22941 broad.mit.edu 37 11 70333123 70333123 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr11:70333123C>T ENST00000338508.4 - 32 3277 c.3278G>A c.(3277-3279)cGg>cAg p.R1093Q SHANK2_ENST00000449833.2_Missense_Mutation_p.R497Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.R713Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R496Q Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 713 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GGCTTCCAGCCGCTTCTCACG 0.721000 13 347 0 0 0.003163 0 0 NKRF 55922 broad.mit.edu 37 X 118723979 118723979 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chrX:118723979T>C ENST00000371527.1 - 2 2061 c.1409A>G c.(1408-1410)tAt>tGt p.Y470C NKRF_ENST00000542113.1_Missense_Mutation_p.Y485C|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.Y470C NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 470 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 CATCCTTTCATAGACATACTC 0.408000 3 81 0 0 0.004672 0 0 BRPF3 27154 broad.mit.edu 37 6 36175199 36175199 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:36175199G>A ENST00000357641.6 + 4 1968 c.1715G>A c.(1714-1716)aGa>aAa p.R572K BRPF3_ENST00000443324.2_Missense_Mutation_p.R572K|BRPF3_ENST00000534694.1_Missense_Mutation_p.R572K|BRPF3_ENST00000543502.1_Missense_Mutation_p.R572K|BRPF3_ENST00000534400.1_Missense_Mutation_p.R572K|BRPF3_ENST00000339717.7_Missense_Mutation_p.R572K NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 572 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 ATTCGGAAGAGAGAGAAGCTC 0.537000 5 35 0 0 0.000602 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111953845 111953845 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr13:111953845A>G ENST00000218789.5 + 20 2458 c.1961A>G c.(1960-1962)tAt>tGt p.Y654C ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y595C|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y595C|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y680C|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y670C Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 418 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) GATACCGTATATGCATTAAAG 0.368000 39 37 0 0 0.003610 0 0 ARID1A 8289 broad.mit.edu 37 1 27106940 27106940 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:27106940C>T ENST00000324856.7 + 20 6922 c.6551C>T c.(6550-6552)gCc>gTc p.A2184V ARID1A_ENST00000457599.2_Missense_Mutation_p.A1967V|ARID1A_ENST00000540690.1_Missense_Mutation_p.A512V|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1801V NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2184 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.A2182fs*36(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCAGCTCGTGCCATTGCAGTG 0.632000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 4 81 0 0 0.000248 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 4 55 0 0 0.000602 0 0 SCN1A 6323 broad.mit.edu 37 2 166894613 166894613 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:166894613C>A ENST00000423058.2 - 15 2636 c.2619G>T c.(2617-2619)tgG>tgT p.W873C AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.W845C|SCN1A_ENST00000303395.4_Missense_Mutation_p.W873C|SCN1A_ENST00000375405.3_Missense_Mutation_p.W862C|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 873 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTAACGTTGGCCAAGATTTTG 0.373000 11 75 2.80697e-09 4.93757e-09 0.000978 1 0 CDK14 5218 broad.mit.edu 37 7 90547015 90547015 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr7:90547015G>T ENST00000406263.1 + 7 1106 c.664G>T c.(664-666)Ggg>Tgg p.G222W CDK14_ENST00000265741.3_Missense_Mutation_p.G250W|CDK14_ENST00000380050.3_Missense_Mutation_p.G268W|CDK14_ENST00000436577.2_Missense_Mutation_p.G139W O94921 CDK14_HUMAN cyclin-dependent kinase 14 268 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity p.G250W(1) breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 CAGTGACACGGGGGAGTTAAA 0.443000 18 95 2.35188e-11 4.26552e-11 0.006122 1 0 ANKH 56172 broad.mit.edu 37 5 14758660 14758660 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr5:14758660C>T ENST00000284268.6 - 3 691 c.361G>A c.(361-363)Gac>Aac p.D121N NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 121 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 ACCGACTCGTCCACATGGTGC 0.433000 12 63 0 0 0.001855 0 0 NACA 4666 broad.mit.edu 37 12 57111028 57111028 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:57111028G>C ENST00000454682.1 - 3 4567 c.4286C>G c.(4285-4287)tCc>tGc p.S1429C NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 ATCTCCTTTGGATGGGGTGGC 0.592000 T BCL6 NHL 4 37 0 0 0.000602 0 0 ANKMY1 51281 broad.mit.edu 37 2 241492385 241492385 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:241492385G>A ENST00000391987.1 - 4 525 c.159C>T c.(157-159)taC>taT p.Y53Y ANKMY1_ENST00000272972.3_Silent_p.Y53Y|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Silent_p.Y95Y|ANKMY1_ENST00000405002.1_Silent_p.Y53Y|ANKMY1_ENST00000406958.1_Silent_p.Y142Y|ANKMY1_ENST00000403283.1_Silent_p.Y221Y|ANKMY1_ENST00000405523.3_Silent_p.Y142Y|ANKMY1_ENST00000401804.1_Silent_p.Y142Y|ANKMY1_ENST00000373318.2_Silent_p.Y142Y|ANKMY1_ENST00000373320.4_Silent_p.Y53Y|ANKMY1_ENST00000361678.4_Silent_p.Y142Y Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 53 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GGTGGCTGAGGTAAAATGTGC 0.567000 36 56 0 0 0.003755 0 0 PCSK2 5126 broad.mit.edu 37 20 17462446 17462446 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr20:17462446G>C ENST00000262545.2 + 12 1963 c.1648G>C c.(1648-1650)Gac>Cac p.D550H PCSK2_ENST00000536609.1_Missense_Mutation_p.D515H|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.D531H NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 550 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGTGGGCTTTGACAAGTGGCC 0.597000 11 31 0 0 0.000978 0 0 LIG4 3981 broad.mit.edu 37 13 108862659 108862659 + Missense_Mutation SNP T T G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr13:108862659T>G ENST00000356922.4 - 2 1230 c.958A>C c.(958-960)Aaa>Caa p.K320Q LIG4_ENST00000442234.1_Missense_Mutation_p.K320Q|LIG4_ENST00000405925.1_Missense_Mutation_p.K320Q NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 320 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) ATATCTGCTTTGAATGCATTA 0.338000 Non-homologous end-joining 35 30 0 0 0.003271 0 0 EPHB6 2051 broad.mit.edu 37 7 142564288 142564288 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr7:142564288C>T ENST00000392957.2 + 10 2299 c.1512C>T c.(1510-1512)atC>atT p.I504I EPHB6_ENST00000411471.2_Silent_p.I227I|EPHB6_ENST00000442129.1_Silent_p.I504I NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 504 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CCAACAGCATCACGGTGTCCT 0.592000 34 46 0 0 0.002836 0 0 CMTM8 152189 broad.mit.edu 37 3 32398887 32398887 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr3:32398887C>T ENST00000307526.3 + 2 464 c.170C>T c.(169-171)aCg>aTg p.T57M CMTM8_ENST00000458535.2_Intron NM_178868.3 NP_849199.2 Q8IZV2 CKLF8_HUMAN CKLF-like MARVEL transmembrane domain containing 8 57 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 CTGGTATGGACGCTTATTGCT 0.483000 22 60 0 0 0.002299 0 0 SEMA5A 9037 broad.mit.edu 37 5 9066619 9066619 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr5:9066619G>T ENST00000382496.5 - 17 2878 c.2213C>A c.(2212-2214)gCt>gAt p.A738D NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 738 TSP type-1 4. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ATTCGGATCAGCCAGGCGGGC 0.542000 32 150 9.78306e-22 1.85497e-21 0.001786 1 0 NMS 129521 broad.mit.edu 37 2 101097599 101097599 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:101097599G>A ENST00000376865.1 + 8 391 c.384G>A c.(382-384)gcG>gcA p.A128A NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 128 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 ATCACACTGCGACCTGGGGAC 0.418000 18 94 0 0 0.000958 0 0 ITGA1 3672 broad.mit.edu 37 5 52201636 52201636 + Silent SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr5:52201636C>G ENST00000282588.6 + 12 1811 c.1353C>G c.(1351-1353)ctC>ctG p.L451L NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 451 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GAGATGTGCTCTATATTGCTG 0.433000 14 37 0 0 0.001855 0 0 TRA2A 29896 broad.mit.edu 37 7 23561386 23561386 + Missense_Mutation SNP C C T rs142235949 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr7:23561386C>T ENST00000297071.4 - 2 326 c.110G>A c.(109-111)cGt>cAt p.R37H TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR NM_013293.3 NP_037425.1 Q13595 TRA2A_HUMAN transformer 2 alpha homolog (Drosophila) 37 Arg/Ser-rich (RS1 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 TGATGGACTACGAGATCCTGA 0.413000 28 44 0 0 0.004656 0 0 RYR2 6262 broad.mit.edu 37 1 237969513 237969513 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:237969513T>C ENST00000366574.2 + 99 14545 c.14228T>C c.(14227-14229)cTt>cCt p.L4743P RYR2_ENST00000360064.6_Missense_Mutation_p.L4749P|RYR2_ENST00000542537.1_Missense_Mutation_p.L4727P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4743 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCGCTCACCTTCTCGACATT 0.408000 24 35 0 0 0.002299 0 0 TANC1 85461 broad.mit.edu 37 2 160006935 160006935 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:160006935G>T ENST00000263635.6 + 7 787 c.550G>T c.(550-552)Gca>Tca p.A184S TANC1_ENST00000454300.1_Intron NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 184 Ser-rich. cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 AAGCAGCACCGCATCTCCTAG 0.527000 16 13 1.67942e-08 2.88464e-08 0.006122 1 0 MCU 90550 broad.mit.edu 37 10 74620189 74620189 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr10:74620189C>T ENST00000536019.1 + 4 698 c.253C>T c.(253-255)Cgc>Tgc p.R85C MCU_ENST00000373053.3_Missense_Mutation_p.R134C|MCU_ENST00000357157.6_Missense_Mutation_p.R134C NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 134 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 AGATGGTGTTCGCGTTGCTGC 0.358000 18 77 0 0 0.006122 0 0 ZNF181 339318 broad.mit.edu 37 19 35232698 35232698 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr19:35232698G>T ENST00000392232.3 + 6 1712 c.1544G>T c.(1543-1545)aGt>aTt p.S515I ZNF181_ENST00000492450.1_Missense_Mutation_p.S471I|ZNF181_ENST00000459757.1_Missense_Mutation_p.S470I Q2M3W8 ZN181_HUMAN zinc finger protein 181 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AAAGCCTTTAGTCATAGGTCA 0.388000 23 56 6.32553e-13 1.16902e-12 0.004656 1 0 CPAMD8 27151 broad.mit.edu 37 19 17122306 17122306 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr19:17122306C>T ENST00000443236.1 - 5 626 c.595G>A c.(595-597)Gtc>Atc p.V199I CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.V152I NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 152 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TTTGGAGAGACGGTGAAGATG 0.587000 20 65 0 0 0.000958 0 0 KCNT2 343450 broad.mit.edu 37 1 196295872 196295872 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:196295872G>C ENST00000367433.5 - 19 2352 c.2251C>G c.(2251-2253)Ccc>Gcc p.P751A KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.P751A|KCNT2_ENST00000367431.4_Missense_Mutation_p.P701A|KCNT2_ENST00000451324.2_Missense_Mutation_p.P362A Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 751 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 AGTACTATGGGATTAAGTTCT 0.284000 3 38 0 0 0.000248 0 0 ELP4 26610 broad.mit.edu 37 11 31616423 31616423 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr11:31616423G>A ENST00000395934.2 + 4 495 c.488G>A c.(487-489)cGt>cAt p.R163H ELP4_ENST00000379163.5_Missense_Mutation_p.R163H|ELP4_ENST00000350638.5_Missense_Mutation_p.R163H Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 163 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) ATAGCTTGGCGTTACCAGTTA 0.318000 6 22 0 0 0.001168 0 0 TCHH 7062 broad.mit.edu 37 1 152085381 152085381 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:152085381G>A ENST00000368804.1 - 2 311 c.312C>T c.(310-312)gaC>gaT p.D104D NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 104 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCCTTTCCGTCACACCGGG 0.527000 135 97 0 0 0.003610 0 0 NXF1 10482 broad.mit.edu 37 11 62564806 62564806 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr11:62564806G>A ENST00000532297.1 - 13 1735 c.1106C>T c.(1105-1107)aCg>aTg p.T369M NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.T369M Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 369 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGGCGGTAACGTCGTGGGGGC 0.498000 12 76 0 0 0.000978 0 0 TRIM51 84767 broad.mit.edu 37 11 55653123 55653123 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr11:55653123G>A ENST00000449290.2 + 2 311 c.219G>A c.(217-219)atG>atA p.M73I NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 73 intracellular zinc ion binding TGAAGAACATGGCTTTCATTG 0.478000 11 13 0 0 0.000673 0 0 HDHD3 81932 broad.mit.edu 37 9 116136605 116136605 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr9:116136605C>T ENST00000238379.5 - 2 927 c.30G>A c.(28-30)ctG>ctA p.L10L HDHD3_ENST00000374180.3_Silent_p.L10L|HDHD3_ENST00000485934.1_5'UTR NM_031219.2 NP_112496.1 Q9BSH5 HDHD3_HUMAN haloacid dehalogenase-like hydrolase domain containing 3 10 phosphoglycolate phosphatase activity|protein binding large_intestine(2)|liver(1) 3 CATCCCACGTCAGCAGTCGTA 0.657000 7 40 0 0 0.004482 0 0 DSC1 1823 broad.mit.edu 37 18 28713884 28713884 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr18:28713884C>A ENST00000257197.3 - 13 2347 c.2086G>T c.(2086-2088)Gct>Tct p.A696S DSC1_ENST00000257198.5_Missense_Mutation_p.A696S|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 696 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AACACCATAGCAAGAATAGCC 0.318000 24 23 3.10358e-05 5.14912e-05 0.002299 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79059275 79059275 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr15:79059275A>G ENST00000388820.4 - 19 3188 c.2978T>C c.(2977-2979)cTc>cCc p.L993P ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 993 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCACCGACAGAGTGGCAGAGA 0.652000 3 68 0 0 0.004672 0 0 WWP1 11059 broad.mit.edu 37 8 87454892 87454892 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr8:87454892A>G ENST00000517970.1 + 18 2190 c.1883A>G c.(1882-1884)tAt>tGt p.Y628C WWP1_ENST00000349423.2_Missense_Mutation_p.Y410C|WWP1_ENST00000265428.4_Missense_Mutation_p.Y628C|WWP1_ENST00000341922.2_Missense_Mutation_p.Y498C NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 628 HECT. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 AACCCAATGTATTGCTTATTT 0.318000 18 36 0 0 0.000958 0 0 CDHR1 92211 broad.mit.edu 37 10 85972970 85972970 + Missense_Mutation SNP C C T rs148280890 byFrequency TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr10:85972970C>T ENST00000372117.3 + 16 2009 c.1906C>T c.(1906-1908)Cgc>Tgc p.R636C CDHR1_ENST00000332904.3_Missense_Mutation_p.R636C|CDHR1_ENST00000440770.2_Missense_Mutation_p.R340C NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 636 Cadherin 6. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GAATTCCATCCGCTCCCTGGA 0.587000 25 74 0 0 0.003330 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 6 29 0 0 0.001984 0 0 BTN1A1 696 broad.mit.edu 37 6 26505323 26505323 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:26505323T>C ENST00000244513.6 + 3 664 c.598T>C c.(598-600)Ttc>Ctc p.F200L NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 200 Ig-like V-type 2. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 AGAAGGTTTGTTCACTGTGGC 0.478000 12 71 0 0 0.001368 0 0 KDM5B 10765 broad.mit.edu 37 1 202733221 202733221 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:202733221T>C ENST00000367265.3 - 6 1928 c.764A>G c.(763-765)aAt>aGt p.N255S KDM5B_ENST00000367264.2_Missense_Mutation_p.N291S NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 255 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ACGTCTCAGATTATGAGTTCT 0.303000 11 42 0 0 0.002450 0 0 GON4L 54856 broad.mit.edu 37 1 155744943 155744943 + Nonsense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:155744943G>A ENST00000437809.1 - 17 2322 c.2200C>T c.(2200-2202)Caa>Taa p.Q734* GON4L_ENST00000368331.1_Nonsense_Mutation_p.Q734*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q734*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q734*|GON4L_ENST00000471341.1_5'UTR Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 734 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) ATGGAGCTTTGAGCAAAGGTT 0.438000 17 129 0 0 0.002780 0 0 DYM 54808 broad.mit.edu 37 18 46889584 46889584 + Silent SNP A A T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr18:46889584A>T ENST00000269445.6 - 6 898 c.441T>A c.(439-441)ctT>ctA p.L147L DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_5'UTR NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 147 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 ATTCTTCCAAAAGATCTTCTG 0.348000 6 27 0 0 0.001168 0 0 TEX15 56154 broad.mit.edu 37 8 30695359 30695359 + Missense_Mutation SNP T T G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr8:30695359T>G ENST00000256246.2 - 3 7366 c.7292A>C c.(7291-7293)aAt>aCt p.N2431T NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2431 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GCTATTTAAATTTTCCTGTTG 0.358000 47 121 0 0 0.003214 0 0 GCNT2 2651 broad.mit.edu 37 6 10529730 10529730 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:10529730C>T ENST00000379597.3 + 1 1142 c.586C>T c.(586-588)Ccc>Tcc p.P196S GCNT2_ENST00000495262.1_Missense_Mutation_p.P196S|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 196 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GCAAGACTTTCCCCTGAAAAC 0.532000 38 34 0 0 0.004878 0 0 PDE5A 8654 broad.mit.edu 37 4 120427082 120427082 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr4:120427082C>T ENST00000354960.3 - 17 2514 c.2195G>A c.(2194-2196)cGa>cAa p.R732Q PDE5A_ENST00000264805.5_Missense_Mutation_p.R690Q|PDE5A_ENST00000394439.1_Missense_Mutation_p.R680Q|RP11-33B1.1_ENST00000498873.1_RNA NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 732 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding p.G733delG(1) breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AAATTCTCCTCGCCTCCTACA 0.318000 6 39 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179552943 179552943 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:179552943C>G ENST00000589042.1 - 127 32430 c.32206G>C c.(32206-32208)Gag>Cag p.E10736Q TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9492Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10419Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10419 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTCCTCCTCTGCAGATACT 0.398000 19 190 0 0 0.000958 0 0 ANKRD26 22852 broad.mit.edu 37 10 27303483 27303483 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr10:27303483T>C ENST00000376087.4 - 31 4829 c.4664A>G c.(4663-4665)tAt>tGt p.Y1555C ANKRD26_ENST00000436985.2_Missense_Mutation_p.Y1571C|ANKRD26_ENST00000376070.3_Missense_Mutation_p.Y1112C NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1554 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 GAGTTGCTTATATTTTTCCAG 0.284000 17 13 0 0 0.004007 0 0 MSX2 4488 broad.mit.edu 37 5 174156337 174156337 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr5:174156337G>T ENST00000239243.6 + 2 682 c.555G>T c.(553-555)caG>caT p.Q185H NM_002449.4 NP_002440.2 P35548 MSX2_HUMAN msh homeobox 2 185 cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CAGAGACCCAGGTCAAAATCT 0.547000 13 58 4.36969e-10 7.78018e-10 0.001855 1 0 LRP1 4035 broad.mit.edu 37 12 57560805 57560805 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:57560805C>G ENST00000243077.3 + 18 3356 c.2890C>G c.(2890-2892)Cgc>Ggc p.R964G NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 964 LDL-receptor class A 5. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTGTGGGGACCGCTCTGATGA 0.657000 20 87 0 0 0.001523 0 0 CDKN2C 1031 broad.mit.edu 37 1 51439744 51439744 + Silent SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:51439744G>C ENST00000262662.1 + 4 2343 c.309G>C c.(307-309)ggG>ggC p.G103G CDKN2C_ENST00000371761.3_Silent_p.G103G|CDKN2C_ENST00000396148.1_Silent_p.G103G P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) 103 cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(11)|p.?(1) central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1) 23 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) ATAATGAAGGGAACCTGCCCT 0.532000 D """glioma, MM""" 6 59 0 0 0.001984 0 0 ANK2 287 broad.mit.edu 37 4 114095604 114095604 + Silent SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr4:114095604C>A ENST00000357077.4 + 2 170 c.117C>A c.(115-117)gcC>gcA p.A39A ANK2_ENST00000506722.1_Silent_p.A18A|ANK2_ENST00000394537.3_Silent_p.A39A|ANK2_ENST00000264366.6_Silent_p.A39A NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 39 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding 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) TCCGTGCTGCCAGAGCAGGCA 0.433000 6 31 0.000157383 0.000259638 0.003080 1 0 RER1 11079 broad.mit.edu 37 1 2327276 2327276 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:2327276C>T ENST00000605895.1 + 2 180 c.47C>T c.(46-48)tCg>tTg p.S16L RER1_ENST00000378512.1_Missense_Mutation_p.S16L|RER1_ENST00000378518.1_Missense_Mutation_p.S16L|RER1_ENST00000378513.3_Missense_Mutation_p.S16L|RER1_ENST00000488353.1_Missense_Mutation_p.S16L NM_007033.4 NP_008964.3 O15258 RER1_HUMAN retention in endoplasmic reticulum sorting receptor 1 16 retrograde vesicle-mediated transport, Golgi to ER integral to Golgi membrane endometrium(3)|kidney(1) 4 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204) GGGAAACCTTCGGTGGTGTAC 0.413000 14 60 0 0 0.003163 0 0 STAT1 6772 broad.mit.edu 37 2 191862724 191862724 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:191862724G>A ENST00000361099.3 - 9 1030 c.643C>T c.(643-645)Cac>Tac p.H215Y STAT1_ENST00000409465.1_Missense_Mutation_p.H215Y|STAT1_ENST00000540176.1_Missense_Mutation_p.S184L|STAT1_ENST00000392323.2_Missense_Mutation_p.H217Y|STAT1_ENST00000392322.3_Missense_Mutation_p.H215Y NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 215 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) ATTATTTTGTGAACTACTTCC 0.328000 7 72 0 0 0.001984 0 0 CALM3 808 broad.mit.edu 37 19 47111573 47111573 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr19:47111573A>G ENST00000291295.9 + 3 353 c.154A>G c.(154-156)Atg>Gtg p.M52V CALM3_ENST00000599839.1_Missense_Mutation_p.M16V|CALM3_ENST00000598871.1_Missense_Mutation_p.M16V|CALM3_ENST00000391918.2_Missense_Mutation_p.M16V|CALM3_ENST00000596362.1_Missense_Mutation_p.M52V|CALM3_ENST00000594523.1_Missense_Mutation_p.M16V|CALM3_ENST00000597743.1_Missense_Mutation_p.M52V|CALM3_ENST00000477244.1_3'UTR NM_005184.2 NP_005175.2 P62158 CALM_HUMAN calmodulin 3 (phosphorylase kinase, delta) 52 EF-hand 2. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1) 6 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) GCTGCAGGATATGATCAATGA 0.582000 28 20 0 0 0.001271 0 0 PSMB2 5690 broad.mit.edu 37 1 36068938 36068938 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:36068938C>G ENST00000373237.3 - 6 947 c.536G>C c.(535-537)aGt>aCt p.S179T NM_002794.4 NP_002785.1 P49721 PSB2_HUMAN proteasome (prosome, macropain) subunit, beta type, 2 179 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|large_intestine(2) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) Bortezomib(DB00188) GATTCGAACACTGAAGGTTGG 0.468000 15 74 0 0 0.004007 0 0 FCRLA 84824 broad.mit.edu 37 1 161677051 161677051 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:161677051C>T ENST00000367959.2 + 1 290 c.48C>T c.(46-48)gtC>gtT p.V16V FCRLA_ENST00000367949.2_Silent_p.V16V|FCRLA_ENST00000367957.2_Silent_p.V16V|FCRLA_ENST00000350710.3_Silent_p.V16V|FCRLA_ENST00000349527.4_5'UTR|FCRLA_ENST00000236938.6_Silent_p.V16V|FCRLA_ENST00000546024.1_Silent_p.V16V|FCRLA_ENST00000540926.1_5'UTR|FCRLA_ENST00000540521.1_Silent_p.V16V NM_001184866.1 NP_001171795.1 Q7L513 FCRLA_HUMAN Fc receptor-like A 0 cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) TAAACACAGTCACCATGAAGC 0.463000 6 33 0 0 0.001168 0 0 NRG3 10718 broad.mit.edu 37 10 84625186 84625186 + Missense_Mutation SNP A A T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr10:84625186A>T ENST00000372142.2 + 5 658 c.384A>T c.(382-384)gaA>gaT p.E128D NRG3_ENST00000545131.1_5'UTR|NRG3_ENST00000404547.1_Missense_Mutation_p.E349D|NRG3_ENST00000404576.2_Missense_Mutation_p.E153D|NRG3_ENST00000372141.2_Missense_Mutation_p.E349D|NRG3_ENST00000556918.1_Missense_Mutation_p.E179D|NRG3_ENST00000537893.1_5'UTR NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 349 Poly-Thr.|Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TGGGGATTGAATTCATGGGTA 0.373000 12 50 0 0 0.002450 0 0 FAM47A 158724 broad.mit.edu 37 X 34148619 34148619 + Nonsense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chrX:34148619C>A ENST00000346193.3 - 1 1828 c.1777G>T c.(1777-1779)Gag>Tag p.E593* NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 593 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GAAACGCACTCTTTTGTGCTT 0.468000 15 17 1.3612e-06 2.28432e-06 0.003163 1 0 TUBB4B 10383 broad.mit.edu 37 9 140137606 140137606 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr9:140137606G>A ENST00000340384.4 + 4 1084 c.936G>A c.(934-936)acG>acA p.T312T NM_006088.5 NP_006079.1 P68371 TBB2C_HUMAN tubulin, beta 4B class IVb 312 'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding GCTACCTGACGGTTGCCGCCG 0.567000 4 116 0 0 0.000602 0 0 OR5T2 219464 broad.mit.edu 37 11 55999656 55999656 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr11:55999656C>A ENST00000313264.4 - 1 1081 c.1006G>T c.(1006-1008)Gta>Tta p.V336L NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 336 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) GAGTCTTTTACATCTTTGTTC 0.328000 17 49 1.5739e-10 2.8195e-10 0.004007 1 0 AHNAK2 113146 broad.mit.edu 37 14 105415341 105415341 + Missense_Mutation SNP T T A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr14:105415341T>A ENST00000333244.5 - 7 6566 c.6447A>T c.(6445-6447)aaA>aaT p.K2149N AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2149 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) ACTTGCTGTCTTTGGTAGTCA 0.592000 206 627 0 0 0.003610 0 0 SCRIB 23513 broad.mit.edu 37 8 144891191 144891191 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr8:144891191G>A ENST00000356994.2 - 15 1709 c.1703C>T c.(1702-1704)aCg>aTg p.T568M SCRIB_ENST00000320476.3_Missense_Mutation_p.T568M|SCRIB_ENST00000377533.3_Missense_Mutation_p.T487M NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 568 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GAAATGCACCGTGGGCTGTGC 0.657000 18 70 0 0 0.006122 0 0 GRM4 2914 broad.mit.edu 37 6 34101096 34101096 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:34101096G>A ENST00000374181.3 - 1 347 c.178C>T c.(178-180)Cgg>Tgg p.R60W GRM4_ENST00000538487.1_Missense_Mutation_p.R60W|GRM4_ENST00000374177.3_Intron NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 60 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TCTGAGCCCCGGCCATGCACC 0.597000 6 40 0 0 0.001168 0 0 HEXIM2 124790 broad.mit.edu 37 17 43246702 43246702 + Silent SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr17:43246702A>G ENST00000307275.3 + 4 823 c.387A>G c.(385-387)gaA>gaG p.E129E HEXIM2_ENST00000591576.1_Silent_p.E129E|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Silent_p.E129E NM_144608.1 NP_653209.1 Q96MH2 HEXI2_HUMAN hexamethylene bis-acetamide inducible 2 129 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding endometrium(1)|large_intestine(3)|lung(1) 5 GGGTCCGCGAAGAGATGTTCG 0.627000 7 41 0 0 0.001984 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972727 92972727 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr8:92972727G>T ENST00000523629.1 - 12 2012 c.1558C>A c.(1558-1560)Cgt>Agt p.R520S RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R493S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R483S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R483S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R531S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R483S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R520S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R493S NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 520 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CTCGCTTTACGGCCACAATTC 0.458000 22 50 1.50039e-11 2.73821e-11 0.001882 1 0 TP53 7157 broad.mit.edu 37 17 7577580 7577580 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr17:7577580T>C ENST00000420246.2 - 7 833 c.701A>G c.(700-702)tAc>tGc p.Y234C TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 234 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATGTAGTTGTAGTGGATGGT 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 45 25 0 0 0.002222 0 0 ZNF8 7554 broad.mit.edu 37 19 58806142 58806142 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr19:58806142G>T ENST00000196548.5 + 4 1099 c.968G>T c.(967-969)tGc>tTc p.C323F AC010642.1_ENST00000591325.1_3'UTR NM_021089.2 NP_066575.2 P17098 ZNF8_HUMAN zinc finger protein 8 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) AAGTCTTTCTGCCATAGTACA 0.557000 25 23 2.39556e-15 4.48401e-15 0.002780 1 0 GPHN 10243 broad.mit.edu 37 14 67390956 67390956 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr14:67390956G>A ENST00000478722.1 + 8 1896 c.775G>A c.(775-777)Gaa>Aaa p.E259K GPHN_ENST00000543237.1_Intron|GPHN_ENST00000459628.1_Missense_Mutation_p.E241K|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Intron|GPHN_ENST00000305960.9_Intron NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 243 Interaction with GABARAP (By similarity). Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) GGCACACGGTGAACAGCCCAT 0.398000 T MLL AL 9 43 0 0 0.000673 0 0 GSG1 83445 broad.mit.edu 37 12 13243618 13243618 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:13243618G>A ENST00000337630.6 - 2 211 c.144C>T c.(142-144)ccC>ccT p.P48P GSG1_ENST00000432710.2_Silent_p.P61P|GSG1_ENST00000351606.6_Silent_p.P61P|GSG1_ENST00000324458.8_Silent_p.P61P|GSG1_ENST00000396310.2_Silent_p.P45P|GSG1_ENST00000396302.3_Silent_p.P48P|GSG1_ENST00000537302.1_Silent_p.P48P|GSG1_ENST00000457134.2_Silent_p.P48P NM_153823.3 NP_722545.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 48 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) TCTCGCACAGGGGCTTGGGCA 0.542000 25 69 0 0 0.004656 0 0 UCHL5 51377 broad.mit.edu 37 1 192985497 192985497 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:192985497G>C ENST00000367455.3 - 11 1209 c.974C>G c.(973-975)gCt>gGt p.A325G UCHL5_ENST00000367451.4_Missense_Mutation_p.A351G|UCHL5_ENST00000367454.1_Missense_Mutation_p.A324G NM_015984.3 NP_057068.1 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 325 Interaction with ADRM1. DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1) 19 GGTTTCCTGAGCTTTCTTTGC 0.289000 12 121 0 0 0.003163 0 0 DUSP27 92235 broad.mit.edu 37 1 167088559 167088559 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:167088559G>A ENST00000361200.2 + 5 677 c.511G>A c.(511-513)Ggc>Agc p.G171S DUSP27_ENST00000443333.1_Missense_Mutation_p.G171S|DUSP27_ENST00000271385.5_Missense_Mutation_p.G171S Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 171 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GCATGGCACCGGCGTTTACAC 0.567000 4 37 0 0 0.000248 0 0 PRB2 653247 broad.mit.edu 37 12 11546897 11546897 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:11546897C>G ENST00000389362.4 - 3 150 c.115G>C c.(115-117)Gca>Cca p.A39P PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGTGGGGGTGCTCCTTGTGGA 0.502000 43 108 0 0 0.003610 0 0 STEAP2 261729 broad.mit.edu 37 7 89854672 89854672 + Silent SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr7:89854672T>C ENST00000287908.3 + 2 669 c.276T>C c.(274-276)gcT>gcC p.A92A STEAP2_ENST00000394629.2_Silent_p.A92A|STEAP2_ENST00000394621.2_Silent_p.A92A|STEAP2_ENST00000394622.2_Silent_p.A92A|STEAP2_ENST00000394632.1_Silent_p.A92A|STEAP2_ENST00000402625.2_Silent_p.A92A|STEAP2_ENST00000394626.1_Silent_p.A92A NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 92 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) TATTTGTTGCTATACACAGAG 0.378000 55 59 0 0 0.003610 0 0 ARPC1B 10095 broad.mit.edu 37 7 98984357 98984357 + Silent SNP C C T rs144704984 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr7:98984357C>T ENST00000451682.1 + 5 423 c.114C>T c.(112-114)agC>agT p.S38S ARPC1B_ENST00000252725.5_Silent_p.S38S|ARPC1B_ENST00000474880.1_3'UTR|ARPC1A_ENST00000432884.2_3'UTR O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 38 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) ATGAAAAGAGCGGTGCCAAAT 0.572000 26 156 0 0 0.005443 0 0 NIPA2 81614 broad.mit.edu 37 15 23006379 23006379 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr15:23006379G>A ENST00000337451.3 - 8 1537 c.925C>T c.(925-927)Ctg>Ttg p.L309L NIPA2_ENST00000359727.4_Silent_p.L290L|NIPA2_ENST00000398013.3_Silent_p.L309L|NIPA2_ENST00000398014.2_Silent_p.L309L|NIPA2_ENST00000539711.2_Silent_p.L290L NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 309 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) GACACAGGCAGACTTGCTAGA 0.373000 20 30 0 0 0.000958 0 0 CACNG2 10369 broad.mit.edu 37 22 37098605 37098605 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr22:37098605C>G ENST00000300105.6 - 1 998 c.17G>C c.(16-18)cGa>cCa p.R6P NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 6 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 TTGAACACCTCGATCAAACAG 0.468000 13 85 0 0 0.001855 0 0 ADCY2 108 broad.mit.edu 37 5 7757570 7757570 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr5:7757570C>A ENST00000338316.4 + 16 2054 c.1965C>A c.(1963-1965)agC>agA p.S655R ADCY2_ENST00000537121.1_Missense_Mutation_p.S475R NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 655 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 AGCAATGCAGCAAAAAAGCCT 0.488000 73 98 2.40655e-23 4.5929e-23 0.003610 1 0 UNC5C 8633 broad.mit.edu 37 4 96140364 96140364 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr4:96140364G>C ENST00000453304.1 - 9 1749 c.1401C>G c.(1399-1401)aaC>aaG p.N467K UNC5C_ENST00000506749.1_Missense_Mutation_p.N486K NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 467 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAATTGGAGAGTTGGTCATTG 0.522000 56 259 0 0 0.003610 0 0 CELF6 60677 broad.mit.edu 37 15 72608204 72608204 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr15:72608204C>T ENST00000287202.5 - 2 581 c.327G>A c.(325-327)gaG>gaA p.E109E CELF6_ENST00000539635.1_5'UTR|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Silent_p.E109E NM_052840.4 NP_443072.3 Q96J87 CELF6_HUMAN CUGBP, Elav-like family member 6 109 RRM 1. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2) 13 GGGTCTTCTGCTCGTGCAGTG 0.632000 3 12 0 0 0.004672 0 0 RORB 6096 broad.mit.edu 37 9 77286707 77286707 + Silent SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr9:77286707C>A ENST00000376896.2 + 9 1726 c.1114C>A c.(1114-1116)Cga>Aga p.R372R RORB_ENST00000396204.2_Silent_p.R383R NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 383 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 TTCATCAGACCGAGCCTGGCT 0.403000 23 19 3.01185e-09 5.26623e-09 0.003954 1 0 VPS13A 23230 broad.mit.edu 37 9 79917956 79917956 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr9:79917956A>G ENST00000360280.3 + 34 4198 c.3938A>G c.(3937-3939)aAt>aGt p.N1313S VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.N1313S|VPS13A_ENST00000357409.5_Missense_Mutation_p.N1313S|VPS13A_ENST00000376636.3_Missense_Mutation_p.N1274S NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1313 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TTTAATGTAAATGCTCAGCTG 0.378000 76 37 0 0 0.003610 0 0 MMP1 4312 broad.mit.edu 37 11 102666294 102666294 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr11:102666294G>C ENST00000315274.6 - 5 737 c.670C>G c.(670-672)Ctt>Gtt p.L224V WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 224 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) GAGAGTCCAAGAGAATGGCCG 0.423000 26 338 0 0 0.005443 0 0 CEP41 95681 broad.mit.edu 37 7 130039885 130039885 + Missense_Mutation SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr7:130039885T>C ENST00000223208.4 - 10 1238 c.968A>G c.(967-969)cAt>cGt p.H323R CEP41_ENST00000343969.5_Intron|CEP41_ENST00000541543.1_Intron NM_001257158.1|NM_018718.2 NP_001244087.1|NP_061188.1 Q9BYV8 CEP41_HUMAN centrosomal protein 41kDa 323 G2/M transition of mitotic cell cycle centrosome|cytosol CTTACTAGGATGATCTGCAGG 0.368000 22 100 0 0 0.002299 0 0 PADI1 29943 broad.mit.edu 37 1 17552556 17552556 + Silent SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:17552556G>C ENST00000375471.4 + 6 647 c.555G>C c.(553-555)ctG>ctC p.L185L NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 185 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) CAATGCTGCTGAGCTGCAATG 0.567000 10 62 0 0 0.000443 0 0 LIPC 3990 broad.mit.edu 37 15 58840724 58840724 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr15:58840724A>G ENST00000414170.3 + 7 1291 c.1004A>G c.(1003-1005)aAg>aGg p.K335R LIPC_ENST00000356113.6_Missense_Mutation_p.K335R|LIPC_ENST00000299022.5_Missense_Mutation_p.K335R|LIPC_ENST00000433326.2_Missense_Mutation_p.K274R P11150 LIPC_HUMAN lipase, hepatic 335 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CCGCGGAGCAAGAGCAAGAGG 0.627000 8 17 0 0 0.003080 0 0 ATXN2 6311 broad.mit.edu 37 12 111926424 111926424 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:111926424G>A ENST00000377617.3 - 15 2737 c.2576C>T c.(2575-2577)cCg>cTg p.P859L ATXN2_ENST00000389153.4_Missense_Mutation_p.P594L|ATXN2_ENST00000542287.2_Missense_Mutation_p.P594L|ATXN2_ENST00000550104.1_Missense_Mutation_p.P859L|ATXN2_ENST00000535949.1_Missense_Mutation_p.P570L NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 859 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 GGGGCTATTCGGCTTGCTGCT 0.463000 12 30 0 0 0.002450 0 0 GTDC1 79712 broad.mit.edu 37 2 144764954 144764954 + Missense_Mutation SNP T T A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:144764954T>A ENST00000409214.1 - 7 948 c.670A>T c.(670-672)Aca>Tca p.T224S GTDC1_ENST00000463875.2_Missense_Mutation_p.T95S|GTDC1_ENST00000392869.1_Missense_Mutation_p.T224S|GTDC1_ENST00000542155.1_Missense_Mutation_p.T224S|GTDC1_ENST00000241391.5_Missense_Mutation_p.T224S|GTDC1_ENST00000392867.3_Missense_Mutation_p.T224S|GTDC1_ENST00000344850.4_Missense_Mutation_p.T224S|GTDC1_ENST00000409298.1_Intron NM_001006636.3 NP_001006637.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 224 biosynthetic process transferase activity, transferring glycosyl groups central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) CCACAGTGTGTATCACACTCT 0.418000 34 33 0 0 0.002836 0 0 PRNP 5621 broad.mit.edu 37 20 4680247 4680247 + Silent SNP C C A rs11538754 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr20:4680247C>A ENST00000379440.4 + 2 668 c.381C>A c.(379-381)ggC>ggA p.G127G PRNP_ENST00000430350.2_Silent_p.G127G NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2 NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1 P04156 PRIO_HUMAN prion protein 127 Interaction with GRB2, ERI3 and SYN1 (By similarity). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) GCCTTGGCGGCTACATGCTGG 0.557000 32 37 7.65355e-07 1.29181e-06 0.002445 1 0 PHF10 55274 broad.mit.edu 37 6 170112526 170112526 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:170112526C>T ENST00000339209.4 - 8 1036 c.913G>A c.(913-915)Gaa>Aaa p.E305K PHF10_ENST00000366780.4_Missense_Mutation_p.E303K NM_018288.3|NM_133325.2 NP_060758.2|NP_579866.2 Q8WUB8 PHF10_HUMAN PHD finger protein 10 305 Essential to induce neural progenitor proliferation (By similarity). nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1) 14 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) CGACCATCTTCGCCATCATCT 0.458000 18 57 0 0 0.000958 0 0 KIAA1429 25962 broad.mit.edu 37 8 95531705 95531705 + Splice_Site SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr8:95531705C>G ENST00000297591.5 - 9 2097 c.e9-1 KIAA1429_ENST00000421249.2_Splice_Site|KIAA1429_ENST00000437199.1_Splice_Site NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GTGAAGATATCTGTGGAAGAG 0.373000 10 57 0 0 0.000443 0 0 PGBD1 84547 broad.mit.edu 37 6 28251760 28251760 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:28251760G>A ENST00000405948.2 + 2 590 c.170G>A c.(169-171)gGa>gAa p.G57E PGBD1_ENST00000259883.3_Missense_Mutation_p.G57E NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 57 SCAN box. viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 GAGGCTCACGGACCCCAGGAA 0.587000 53 52 0 0 0.003610 0 0 SETBP1 26040 broad.mit.edu 37 18 42530735 42530735 + Nonsense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr18:42530735C>A ENST00000282030.5 + 4 1726 c.1430C>A c.(1429-1431)tCa>tAa p.S477* NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 477 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GAGTCCCCCTCAGTTGGCCTT 0.488000 Schinzel-Giedion syndrome 19 56 4.35082e-09 7.56213e-09 0.001523 1 0 MAP4K2 5871 broad.mit.edu 37 11 64563761 64563761 + Missense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr11:64563761G>T ENST00000294066.2 - 24 1826 c.1735C>A c.(1735-1737)Cag>Aag p.Q579K MAP4K2_ENST00000377350.3_Missense_Mutation_p.Q571K NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 579 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 ATGATGCGCTGGGTGAGGCGG 0.642000 18 44 9.16793e-09 1.58404e-08 0.004990 1 0 PIP5KL1 138429 broad.mit.edu 37 9 130684360 130684360 + Silent SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr9:130684360C>G ENST00000388747.4 - 10 995 c.951G>C c.(949-951)tcG>tcC p.S317S PIP5KL1_ENST00000300432.3_Silent_p.S114S NM_001135219.1 NP_001128691.1 Q5T9C9 PI5L1_HUMAN phosphatidylinositol-4-phosphate 5-kinase-like 1 317 PIPK. cytoplasm|membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1) 8 TTTGGGCTCTCGACTCTTCCG 0.677000 2 7 0 0 0.004672 0 0 MYH8 4626 broad.mit.edu 37 17 10303758 10303758 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr17:10303758C>A ENST00000403437.2 - 27 3778 c.3684G>T c.(3682-3684)aaG>aaT p.K1228N CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1228 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CAGTCTCCATCTTCAGCTCAC 0.488000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 28 137 2.12542e-12 3.90328e-12 0.001061 1 0 WIF1 11197 broad.mit.edu 37 12 65461539 65461539 + Silent SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:65461539G>C ENST00000286574.4 - 5 944 c.570C>G c.(568-570)ggC>ggG p.G190G NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 190 EGF-like 1. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CATTACAAAAGCCTCCATTTC 0.507000 T HMGA2 pleomorphic salivary gland adenoma 9 26 0 0 0.004482 0 0 APOB 338 broad.mit.edu 37 2 21224635 21224635 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:21224635C>G ENST00000233242.1 - 29 13786 c.13659G>C c.(13657-13659)aaG>aaC p.K4553N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4553 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGGAGCAAGCTTCATGTAGG 0.348000 14 76 0 0 0.001855 0 0 GH2 2689 broad.mit.edu 37 17 61958488 61958488 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr17:61958488C>T ENST00000332800.7 - 3 325 c.192G>A c.(190-192)aaG>aaA p.K64K GH2_ENST00000456543.2_Silent_p.K64K|GH2_ENST00000423893.2_Silent_p.K64K|GH2_ENST00000449787.2_Intron NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 64 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 ACTTCTGCTCCTTCAGGATAT 0.507000 106 79 0 0 0.003610 0 0 RPL10A 4736 broad.mit.edu 37 6 35436736 35436736 + Silent SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:35436736G>T ENST00000322203.6 + 3 120 c.93G>T c.(91-93)acG>acT p.T31T RPL10A_ENST00000467020.1_3'UTR NM_007104.4 NP_009035.3 P62906 RL10A_HUMAN ribosomal protein L10a 31 anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit RNA binding|structural constituent of ribosome p.T31T(1) breast(1)|large_intestine(2)|ovary(1) 4 TCCTGGAGACGGTGGAGTTGC 0.647000 18 19 1.01871e-10 1.8362e-10 0.001216 1 0 LCE2A 353139 broad.mit.edu 37 1 152671632 152671632 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:152671632C>T ENST00000368779.1 + 2 306 c.255C>T c.(253-255)ccC>ccT p.P85P NM_178428.3 NP_848515.1 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 85 Cys-rich. keratinization breast(1)|large_intestine(1)|liver(2)|lung(4) 8 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACCAGAGCCCCGATTGTTGTG 0.657000 120 82 0 0 0.003610 0 0 TNN 63923 broad.mit.edu 37 1 175097245 175097245 + Silent SNP T T G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:175097245T>G ENST00000239462.4 + 14 3236 c.3123T>G c.(3121-3123)ctT>ctG p.L1041L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1041 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTGTCTCCCTTGTTGCCTTTA 0.537000 8 57 0 0 0.003080 0 0 NABP1 64859 broad.mit.edu 37 2 192548983 192548983 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:192548983A>G ENST00000410026.1 + 5 421 c.166A>G c.(166-168)Atg>Gtg p.M56V NABP1_ENST00000409510.1_Missense_Mutation_p.M56V|NABP1_ENST00000425611.2_Missense_Mutation_p.M136V NM_001031716.2|NM_001254736.1 NP_001026886.1|NP_001241665.1 nucleic acid binding protein 1 GAATAATTCCATGAATAGTAA 0.299000 25 83 0 0 0.005443 0 0 ZNF655 79027 broad.mit.edu 37 7 99170398 99170398 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr7:99170398C>G ENST00000424881.1 + 4 992 c.772C>G c.(772-774)Cag>Gag p.Q258E ZNF655_ENST00000252713.4_Missense_Mutation_p.Q223E|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.Q223E|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.Q258E NM_001083956.1|NM_001085368.1 NP_001077425.1|NP_001078837.1 Q8N720 ZN655_HUMAN zinc finger protein 655 223 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AATTTTCCATCAGAGCTCAGC 0.393000 5 38 0 0 0.000602 0 0 VWC2L 402117 broad.mit.edu 37 2 215440475 215440475 + Silent SNP T T C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:215440475T>C ENST00000312504.5 + 4 1402 c.600T>C c.(598-600)tgT>tgC p.C200C AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000412896.1_RNA NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 200 extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 TCTGTCATTGTCACAACGGGG 0.468000 3 163 0 0 0.004672 0 0 RIF1 55183 broad.mit.edu 37 2 152285383 152285383 + Missense_Mutation SNP A A C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:152285383A>C ENST00000243326.4 + 8 1355 c.872A>C c.(871-873)aAg>aCg p.K291T RIF1_ENST00000433166.2_Missense_Mutation_p.K260T|RIF1_ENST00000444746.2_Missense_Mutation_p.K291T|RIF1_ENST00000430328.2_Missense_Mutation_p.K291T|RIF1_ENST00000453091.2_Missense_Mutation_p.K291T|RIF1_ENST00000428287.2_Missense_Mutation_p.K291T Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 291 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) ATGATTAAAAAGATAGCTTTT 0.323000 8 24 0 0 0.003080 0 0 COL27A1 85301 broad.mit.edu 37 9 117044557 117044557 + Splice_Site SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr9:117044557G>C ENST00000356083.3 + 38 4109 c.3717_splice c.e38-1 p.G1240_splice NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1240 Collagen-like 10.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CTCTCTTCAGGGTCCTGAAGG 0.582000 70 40 0 0 0.003610 0 0 SV2A 9900 broad.mit.edu 37 1 149884914 149884914 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:149884914C>T ENST00000369146.3 - 2 969 c.479G>A c.(478-480)gGc>gAc p.G160D SV2A_ENST00000369145.1_Missense_Mutation_p.G160D NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 160 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GCGGCCGTGGCCACACTCCCG 0.617000 57 63 0 0 0.003610 0 0 PFKM 5213 broad.mit.edu 37 12 48526750 48526750 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:48526750C>A ENST00000340802.6 + 7 774 c.550C>A c.(550-552)Ctc>Atc p.L184I PFKM_ENST00000395233.2_Missense_Mutation_p.L113I|PFKM_ENST00000312352.7_Missense_Mutation_p.L113I|PFKM_ENST00000551804.1_Missense_Mutation_p.L113I|PFKM_ENST00000359794.5_Missense_Mutation_p.L113I|PFKM_ENST00000547587.1_Missense_Mutation_p.L113I NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 113 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GATCACCAATCTCTGTGTCAT 0.567000 14 60 0.00244969 0.00399615 0.002450 1 0 TRIM32 22954 broad.mit.edu 37 9 119461761 119461761 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr9:119461761C>T ENST00000450136.1 + 2 1901 c.1740C>T c.(1738-1740)ggC>ggT p.G580G ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.G580G|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 580 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 GCATTGCTGGCATGTGTGTGG 0.527000 52 28 0 0 0.003610 0 0 DMBT1 1755 broad.mit.edu 37 10 124402660 124402660 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr10:124402660G>A ENST00000368909.3 + 53 7094 c.6988G>A c.(6988-6990)Gga>Aga p.G2330R DMBT1_ENST00000359586.6_Missense_Mutation_p.G1050R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1702R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1702R|DMBT1_ENST00000338354.3_Missense_Mutation_p.G2330R|DMBT1_ENST00000368955.3_Missense_Mutation_p.G2320R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G2320R NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2330 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGACACCTACGGACCCTACTC 0.552000 16 89 0 0 0.006122 0 0 FOXJ3 22887 broad.mit.edu 37 1 42645494 42645494 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:42645494G>A ENST00000372572.1 - 15 2067 c.1756C>T c.(1756-1758)Cat>Tat p.H586Y FOXJ3_ENST00000372571.1_Missense_Mutation_p.H100Y|FOXJ3_ENST00000372573.1_Missense_Mutation_p.H586Y|FOXJ3_ENST00000361776.1_Missense_Mutation_p.H552Y|FOXJ3_ENST00000361346.1_Missense_Mutation_p.H586Y|FOXJ3_ENST00000545068.1_Missense_Mutation_p.H586Y NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 586 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCTCTGTGATGGCCTGGAAGG 0.493000 44 251 0 0 0.002522 0 0 HCAR3 8843 broad.mit.edu 37 12 123200718 123200718 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:123200718G>A ENST00000528880.2 - 1 721 c.567C>T c.(565-567)caC>caT p.H189H HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 189 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) ACATAGCTTCGTGCCACCGGA 0.537000 17 66 0 0 0.004990 0 0 SPATS2L 26010 broad.mit.edu 37 2 201303979 201303979 + Missense_Mutation SNP A A T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:201303979A>T ENST00000409988.3 + 7 1103 c.580A>T c.(580-582)Aca>Tca p.T194S SPATS2L_ENST00000409718.1_Missense_Mutation_p.T194S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.T134S|SPATS2L_ENST00000409140.3_Missense_Mutation_p.T194S|SPATS2L_ENST00000409151.1_Missense_Mutation_p.T202S|SPATS2L_ENST00000451764.2_Missense_Mutation_p.T194S|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409755.3_Missense_Mutation_p.T224S|SPATS2L_ENST00000358677.4_Missense_Mutation_p.T194S NM_001100422.1 NP_001093892.1 Q9NUQ6 SPS2L_HUMAN spermatogenesis associated, serine-rich 2-like 194 cytoplasm|nucleolus endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 10 TAAGGCAAAAACATCTCCTGT 0.443000 25 21 0 0 0.003330 0 0 ROS1 6098 broad.mit.edu 37 6 117641132 117641132 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:117641132G>C ENST00000368508.3 - 36 6037 c.5839C>G c.(5839-5841)Ctg>Gtg p.L1947V GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Missense_Mutation_p.L1941V NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1947 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AAGAGACGCAGAGTCAGTTTT 0.463000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 17 35 0 0 0.004007 0 0 ZBTB2 57621 broad.mit.edu 37 6 151694704 151694704 + Silent SNP C C T rs142578824 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:151694704C>T ENST00000325144.4 - 2 209 c.69G>A c.(67-69)ctG>ctA p.L23L NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) TGCAGTCACACAGGAAACCAA 0.388000 7 32 0 0 0.001984 0 0 FLOT1 10211 broad.mit.edu 37 6 30698343 30698343 + Splice_Site SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:30698343C>G ENST00000376389.3 - 11 1172 c.e11-1 FLOT1_ENST00000456573.2_Splice_Site NM_005803.2 NP_005794.1 O75955 FLOT1_HUMAN flotillin 1 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 13 CCCCACGCATCTGAGGGTTAA 0.562000 43 183 0 0 0.001706 0 0 MAST4 375449 broad.mit.edu 37 5 66459360 66459360 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr5:66459360G>A ENST00000404260.3 + 29 4670 c.4362G>A c.(4360-4362)tcG>tcA p.S1454S MAST4_ENST00000261569.7_Silent_p.S1257S|MAST4_ENST00000405643.1_Silent_p.S1272S|MAST4_ENST00000403625.2_Silent_p.S1451S|MAST4_ENST00000403666.1_Silent_p.S1262S O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1454 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGAAGCTGTCGCCCTCTTACG 0.667000 10 12 0 0 0.000443 0 0 PNPLA6 10908 broad.mit.edu 37 19 7619913 7619913 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr19:7619913C>T ENST00000221249.6 + 25 3086 c.2655C>T c.(2653-2655)caC>caT p.H885H PNPLA6_ENST00000545201.2_Silent_p.H858H|PNPLA6_ENST00000450331.3_Silent_p.H885H|PNPLA6_ENST00000414982.3_Silent_p.H933H|PNPLA6_ENST00000600737.1_Silent_p.H923H NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 924 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 GGCACCTGCACCTGCGCTGTC 0.711000 16 10 0 0 0.004990 0 0 ZAN 7455 broad.mit.edu 37 7 100361512 100361512 + RNA SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr7:100361512G>C ENST00000542585.1 + 0 4218 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTCTGTGGACGGCTGGTCGAC 0.602000 68 79 0 0 0.003610 0 0 CYP2W1 54905 broad.mit.edu 37 7 1026395 1026395 + Missense_Mutation SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr7:1026395G>A ENST00000340150.6 + 5 635 c.613G>A c.(613-615)Gtg>Atg p.V205M CYP2W1_ENST00000308919.7_Missense_Mutation_p.V261M Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 261 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GGGGGACCCCGTGTGCAGCTA 0.682000 7 28 0 0 0.001984 0 0 ELOVL6 79071 broad.mit.edu 37 4 110980841 110980841 + Silent SNP T T G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr4:110980841T>G ENST00000394607.3 - 4 454 c.291A>C c.(289-291)tcA>tcC p.S97S ELOVL6_ENST00000302274.3_Silent_p.S97S|ELOVL6_ENST00000506461.1_5'UTR Q9H5J4 ELOV6_HUMAN ELOVL fatty acid elongase 6 97 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) GGTCACAAACTGACTGCTTCA 0.413000 10 40 0 0 0.000978 0 0 MANSC1 54682 broad.mit.edu 37 12 12483163 12483163 + Missense_Mutation SNP C C A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:12483163C>A ENST00000535902.1 - 4 1657 c.1094G>T c.(1093-1095)gGc>gTc p.G365V MANSC1_ENST00000396349.3_Missense_Mutation_p.G331V|MANSC1_ENST00000545735.1_Missense_Mutation_p.G284V Q9H8J5 MANS1_HUMAN MANSC domain containing 1 365 integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) GGAGGAACTGCCTGGACTGGC 0.488000 18 48 1.99824e-07 3.39235e-07 0.004990 1 0 GCC2 9648 broad.mit.edu 37 2 109086566 109086566 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:109086566G>C ENST00000309863.6 + 6 1495 c.781G>C c.(781-783)Gca>Cca p.A261P GCC2_ENST00000485546.1_3'UTR NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 261 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 CCAGATTGAAGCATCAGCTAA 0.358000 26 91 0 0 0.004656 0 0 STAB2 55576 broad.mit.edu 37 12 104063402 104063402 + Silent SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:104063402A>G ENST00000388887.2 + 21 2460 c.2256A>G c.(2254-2256)ggA>ggG p.G752G NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 752 EGF-like 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CAGGAAATGGACAGGTGAATA 0.413000 13 67 0 0 0.001855 0 0 LRP10 26020 broad.mit.edu 37 14 23346653 23346653 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr14:23346653G>C ENST00000359591.4 + 7 2750 c.2059G>C c.(2059-2061)Gat>Cat p.D687H LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Intron NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 687 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GGCCCTGGAAGATGAGGACGA 0.682000 12 46 0 0 0.001368 0 0 PACS1 55690 broad.mit.edu 37 11 65960978 65960978 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr11:65960978G>C ENST00000320580.4 + 2 411 c.378G>C c.(376-378)aaG>aaC p.K126N NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 126 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 TGACCCTGAAGAAACTCGTCA 0.458000 7 27 0 0 0.003080 0 0 IGHG3 3502 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C C T rs2983776 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr14:106237582C>T ENST00000390551.2 - 0 160 GTAGGACAGCCGGGAAGGTGT 0.637000 4 77 0 0 0.000602 0 0 PSG8 440533 broad.mit.edu 37 19 43259226 43259226 + Missense_Mutation SNP G G C rs150991804 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr19:43259226G>C ENST00000404209.4 - 4 998 c.902C>G c.(901-903)aCg>aGg p.T301R PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.T179R|PSG8_ENST00000401467.2_Missense_Mutation_p.T208R|PSG8_ENST00000306511.4_Missense_Mutation_p.T301R NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 301 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TTCATTTCTCGTGACACTGGG 0.478000 92 77 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82545296 82545296 + Silent SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr7:82545296A>G ENST00000423517.2 - 7 12343 c.12006T>C c.(12004-12006)ctT>ctC p.L4002L PCLO_ENST00000333891.8_Silent_p.L4002L|PCLO_ENST00000437081.1_Silent_p.L722L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3933 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACTTACTACCAAGATGGGAAA 0.398000 141 174 0 0 0.003610 0 0 SON 6651 broad.mit.edu 37 21 34926744 34926744 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr21:34926744C>T ENST00000356577.4 + 3 5682 c.5207C>T c.(5206-5208)cCg>cTg p.P1736L SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P1736L|SON_ENST00000290239.6_Missense_Mutation_p.P1736L|SON_ENST00000300278.4_Missense_Mutation_p.P1736L NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 1736 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TTAGTGAGACCGTTACTTCCT 0.453000 21 77 0 0 0.002299 0 0 ANKHD1 54882 broad.mit.edu 37 5 139903729 139903729 + Nonsense_Mutation SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr5:139903729G>T ENST00000297183.6 + 25 4520 c.4396G>T c.(4396-4398)Gaa>Taa p.E1466* ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.E1466*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.E1466* NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) gaaaaaagaggaacagaaaag 0.368000 9 14 1.76689e-08 3.01715e-08 0.000443 1 0 PRDX2 7001 broad.mit.edu 37 19 12912075 12912075 + Translation_Start_Site SNP T T A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr19:12912075T>A ENST00000301522.2 - 2 129 c.1A>T c.(1-3)Atg>Ttg p.M1L CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Start_Codon_SNP_p.M1L|PRDX2_ENST00000435703.1_Start_Codon_SNP_p.M1L NM_005809.4 NP_005800.3 P32119 PRDX2_HUMAN peroxiredoxin 2 1 anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 CCGGAGGCCATGACTGAAAGC 0.617000 5 5 0 0 0.000602 0 0 SEMA6D 80031 broad.mit.edu 37 15 48060874 48060874 + Missense_Mutation SNP C C G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr15:48060874C>G ENST00000316364.5 + 18 2301 c.1862C>G c.(1861-1863)tCt>tGt p.S621C SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S621C|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S602C NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 621 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) CTGACAAGCTCTCGGAAATTT 0.428000 35 55 0 0 0.003755 0 0 DSP 1832 broad.mit.edu 37 6 7585071 7585071 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:7585071A>G ENST00000379802.3 + 24 7917 c.7576A>G c.(7576-7578)Agt>Ggt p.S2526G DSP_ENST00000418664.2_Missense_Mutation_p.S1927G NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2526 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAAGACAGGCAGTCAGTATGA 0.473000 24 90 0 0 0.002780 0 0 SVOP 55530 broad.mit.edu 37 12 109328032 109328032 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:109328032G>C ENST00000299134.5 - 9 790 c.791C>G c.(790-792)tCt>tGt p.S264C NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 CGTAGTAAGAGAATGCATTGG 0.493000 4 10 0 0 0.000248 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64641512 64641512 + Missense_Mutation SNP T T G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr3:64641512T>G ENST00000498707.1 - 5 1351 c.1009A>C c.(1009-1011)Att>Ctt p.I337L ADAMTS9_ENST00000459780.1_Missense_Mutation_p.I337L|ADAMTS9_ENST00000295903.4_Intron NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 337 Peptidase M12B. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ACAATATTAATTAAATTTCCA 0.294000 18 6 0 0 0.006122 0 0 PRB2 653247 broad.mit.edu 37 12 11546907 11546907 + Missense_Mutation SNP A A C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr12:11546907A>C ENST00000389362.4 - 3 140 c.105T>G c.(103-105)aaT>aaG p.N35K PRB2_ENST00000545829.1_5'UTR|PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CTCCTTGTGGATTTCCTGGAG 0.488000 46 97 0 0 0.003610 0 0 F5 2153 broad.mit.edu 37 1 169510609 169510609 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:169510609A>G ENST00000367796.3 - 13 3935 c.3734T>C c.(3733-3735)cTt>cCt p.L1245P F5_ENST00000367797.3_Missense_Mutation_p.L1240P P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1240 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTCTGGAGAAAGGGTTGTATG 0.527000 4 346 0 0 0.000248 0 0 HLA-G 3135 broad.mit.edu 37 6 29796426 29796426 + Silent SNP G G T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:29796426G>T ENST00000428701.1 + 4 628 c.450G>T c.(448-450)ctG>ctT p.L150L HLA-G_ENST00000360323.6_Silent_p.L150L|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Silent_p.L155L NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 150 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 ACCTCGCCCTGAACGAGGACC 0.617000 22 94 3.8784e-16 7.30641e-16 0.001882 1 0 UBN1 29855 broad.mit.edu 37 16 4903155 4903155 + Missense_Mutation SNP G G C TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr16:4903155G>C ENST00000396658.4 + 1 940 c.237G>C c.(235-237)caG>caC p.Q79H UBN1_ENST00000590769.1_Missense_Mutation_p.Q79H|UBN1_ENST00000262376.6_Missense_Mutation_p.Q79H|UBN1_ENST00000545171.1_Missense_Mutation_p.Q79H NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 79 Sufficient for interaction with HIRA. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 AAGGCCTTCAGCCTGGAGATA 0.537000 11 38 0 0 0.000978 0 0 OR2T2 401992 broad.mit.edu 37 1 248616736 248616736 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr1:248616736C>T ENST00000342927.3 + 1 660 c.638C>T c.(637-639)tCt>tTt p.S213F NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCCCTCTATCTGTCATCTCT 0.537000 9 143 0 0 0.000978 0 0 LRP11 84918 broad.mit.edu 37 6 150174187 150174187 + Silent SNP G G A TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:150174187G>A ENST00000239367.2 - 2 728 c.723C>T c.(721-723)gtC>gtT p.V241V LRP11_ENST00000546019.1_5'UTR|LRP11_ENST00000367368.2_Silent_p.V241V NM_032832.5 NP_116221.3 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 11 241 PKD. integral to membrane receptor activity cervix(1)|kidney(5)|large_intestine(1)|lung(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) ACTCATACTGGACGATGGCGT 0.562000 20 39 0 0 0.001216 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761382 92761382 + Silent SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr7:92761382C>T ENST00000318238.4 - 5 5119 c.3903G>A c.(3901-3903)agG>agA p.R1301R SAMD9L_ENST00000411955.1_Silent_p.R1301R|SAMD9L_ENST00000437805.1_Silent_p.R1301R NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1301 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTGTGTATTTCCTGAAACAAC 0.343000 23 51 0 0 0.001882 0 0 ABLIM2 84448 broad.mit.edu 37 4 8009911 8009911 + Missense_Mutation SNP A A G TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr4:8009911A>G ENST00000318888.4 - 15 1467 c.596T>C c.(595-597)cTg>cCg p.L199P ABLIM2_ENST00000407564.3_Missense_Mutation_p.L413P|ABLIM2_ENST00000361581.5_Missense_Mutation_p.L464P|ABLIM2_ENST00000514025.1_Missense_Mutation_p.L199P|ABLIM2_ENST00000341937.5_Missense_Mutation_p.L464P|ABLIM2_ENST00000296372.8_Missense_Mutation_p.L465P|ABLIM2_ENST00000428004.2_Missense_Mutation_p.L424P|ABLIM2_ENST00000361737.5_Missense_Mutation_p.L423P|ABLIM2_ENST00000546334.1_Missense_Mutation_p.L423P|ABLIM2_ENST00000545242.1_Missense_Mutation_p.L464P|ABLIM2_ENST00000447017.2_Missense_Mutation_p.L498P|ABLIM2_ENST00000505872.1_Missense_Mutation_p.L412P Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 464 LIM zinc-binding 3. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 CTTGAGCATCAGCCAGCTGCT 0.527000 3 73 0 0 0.004672 0 0 BCL9L 283149 broad.mit.edu 37 11 118773004 118773004 + Missense_Mutation SNP G G A rs147951163 byFrequency TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr11:118773004G>A ENST00000334801.3 - 6 2412 c.1448C>T c.(1447-1449)cCg>cTg p.P483L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 483 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) ATGCTCCAGCGGGGGGCCCCC 0.642000 84 81 0 0 0.003610 0 0 AFF3 3899 broad.mit.edu 37 2 100209981 100209984 + Frame_Shift_Del DEL GTTG GTTG - TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr2:100209981_100209984delGTTG ENST00000317233.4 - 14 2374_2377 c.2139_2142delCAAC c.(2137-2142)gcfs p.AN713fs AFF3_ENST00000409579.1_Frame_Shift_Del_p.AN738fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.AN738fs|AFF3_ENST00000409236.1_Frame_Shift_Del_p.AN713fs NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 713 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CACTGCCCCCGTTGGCAGCGGCCT 0.627 37 42 --- --- --- --- TGFBI 7045 broad.mit.edu 37 5 135388800 135388801 + Frame_Shift_Del DEL CA CA - TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr5:135388800_135388801delCA ENST00000442011.2 + 8 1279_1280 c.1118_1119delCA c.(1117-1119)cfs p.P373fs TGFBI_ENST00000305126.8_Frame_Shift_Del_p.P373fs NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 373 angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTACTCATCCCAGACTCAGGTA 0.569 11 37 --- --- --- --- BTN2A3P 54718 broad.mit.edu 37 6 26426984 26426984 + RNA DEL T T - rs79308421 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr6:26426984delT ENST00000466808.2 + 0 1067 GAACCTAGTCTTTTTTTTTTT 0.428 2 4 --- --- --- --- CCDC15 80071 broad.mit.edu 37 11 124908334 124908334 + Frame_Shift_Del DEL A A - TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr11:124908334delA ENST00000529051.1 + 14 2678 c.2419delA c.(2419-2421)aafs p.K808fs CCDC15_ENST00000344762.5_Frame_Shift_Del_p.K808fs|CCDC15_ENST00000530061.1_3'UTR Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 808 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CAGAATTAAGAAAAAGAGAGA 0.313 2 4 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 3 6 --- --- --- --- CPAMD8 27151 broad.mit.edu 37 19 17088187 17088189 + In_Frame_Del DEL GAA GAA - TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chr19:17088187_17088189delGAA ENST00000443236.1 - 15 1919_1921 c.1888_1890delTTC c.(1888-1890)del p.F630del CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 583 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCTGGTTTTCGAAGAAGGTCTCG 0.611 21 112 --- --- --- --- CXorf57 55086 broad.mit.edu 37 X 105868408 105868408 + Frame_Shift_Del DEL T T - TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 42d49395-457d-4661-a6ce-ec6f888b7570 g.chrX:105868408delT ENST00000372548.4 + 3 984 c.875delT c.(874-876)gtfs p.V292fs CXorf57_ENST00000372544.2_Frame_Shift_Del_p.V292fs NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 292 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 AGTTTGCGGGTTGGTTTAGTT 0.408 47 41 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100209981 100209984 + Frame_Shift_Del DEL GTTG GTTG - TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr2:100209981_100209984delGTTG ENST00000317233.4 - 14 2374_2377 c.2139_2142delCAAC c.(2137-2142)gcfs p.AN713fs AFF3_ENST00000409579.1_Frame_Shift_Del_p.AN738fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.AN738fs|AFF3_ENST00000409236.1_Frame_Shift_Del_p.AN713fs NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 713 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CACTGCCCCCGTTGGCAGCGGCCT 0.627 37 42 --- --- --- --- LINC00971 440970 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 2 4 --- --- --- --- TGFBI 7045 broad.mit.edu 37 5 135388800 135388801 + Frame_Shift_Del DEL CA CA - TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr5:135388800_135388801delCA ENST00000442011.2 + 8 1279_1280 c.1118_1119delCA c.(1117-1119)cfs p.P373fs TGFBI_ENST00000305126.8_Frame_Shift_Del_p.P373fs NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 373 angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTACTCATCCCAGACTCAGGTA 0.569 11 37 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 8 11 --- --- --- --- CCDC15 80071 broad.mit.edu 37 11 124908334 124908334 + Frame_Shift_Del DEL A A - TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr11:124908334delA ENST00000529051.1 + 14 2678 c.2419delA c.(2419-2421)aafs p.K808fs CCDC15_ENST00000344762.5_Frame_Shift_Del_p.K808fs|CCDC15_ENST00000530061.1_3'UTR Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 808 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CAGAATTAAGAAAAAGAGAGA 0.313 2 4 --- --- --- --- CPAMD8 27151 broad.mit.edu 37 19 17088187 17088189 + In_Frame_Del DEL GAA GAA - TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chr19:17088187_17088189delGAA ENST00000443236.1 - 15 1919_1921 c.1888_1890delTTC c.(1888-1890)del p.F630del CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 583 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCTGGTTTTCGAAGAAGGTCTCG 0.611 21 112 --- --- --- --- CXorf57 55086 broad.mit.edu 37 X 105868408 105868408 + Frame_Shift_Del DEL T T - TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1758147b-cb09-430b-a8cb-6a144744a79f 587d051a-9514-43de-a582-8cfd48c7355d g.chrX:105868408delT ENST00000372548.4 + 3 984 c.875delT c.(874-876)gtfs p.V292fs CXorf57_ENST00000372544.2_Frame_Shift_Del_p.V292fs NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 292 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 AGTTTGCGGGTTGGTTTAGTT 0.408 47 41 --- --- --- ---