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 CDC37L1 55664 broad.mit.edu 37 9 4697876 4697876 + Silent SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr9:4697876C>T ENST00000381854.3 + 5 946 c.744C>T c.(742-744)gcC>gcT p.A248A CDC37L1_ENST00000381858.1_Silent_p.A248A NM_017913.2 NP_060383.2 Q7L3B6 CD37L_HUMAN cell division cycle 37-like 1 248 Self-association and interaction with Hsp90. cytoplasm breast(1)|kidney(1)|lung(2) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) TCCAGAAAGCCAAAGTAAGTA 0.373000 30 20 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132446488 132446488 + Missense_Mutation SNP A A G TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr12:132446488A>G ENST00000333577.4 + 2 1433 c.1324A>G c.(1324-1326)Atc>Gtc p.I442V EP400_ENST00000389561.2_Missense_Mutation_p.I442V|EP400_ENST00000389562.2_Missense_Mutation_p.I442V|EP400_ENST00000330386.6_Missense_Mutation_p.I442V|EP400_ENST00000332482.4_Missense_Mutation_p.I442V Q96L91 EP400_HUMAN E1A binding protein p400 442 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ATCTGAGGTTATCAATGACGA 0.368000 12 23 0 0 1 0 0 RIMS3 9783 broad.mit.edu 37 1 41107556 41107556 + Silent SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr1:41107556G>A ENST00000372684.3 - 3 511 c.42C>T c.(40-42)tcC>tcT p.S14S RIMS3_ENST00000372683.1_Silent_p.S14S NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 14 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) CCACATTCCTGGAGGCCCCAG 0.642000 12 35 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89128881 89128881 + Missense_Mutation SNP G G T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr8:89128881G>T ENST00000286614.6 - 6 1219 c.938C>A c.(937-939)cCt>cAt p.P313H MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 313 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 GTCAGCCGGAGGAATAGAGCG 0.547000 23 137 1.64293e-13 1.77984e-13 1 1 0 DDB1 1642 broad.mit.edu 37 11 61070124 61070124 + Missense_Mutation SNP C C A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr11:61070124C>A ENST00000301764.7 - 24 3439 c.3042G>T c.(3040-3042)atG>atT p.M1014I DDB1_ENST00000451943.2_Start_Codon_SNP_p.M1I|DDB1_ENST00000450997.2_Missense_Mutation_p.M325I|DDB1_ENST00000538470.1_Missense_Mutation_p.M61I NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 1014 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CCAGATTCTGCATTACCAGAG 0.597000 Nucleotide excision repair (NER) 157 124 2.75688e-47 3.17564e-47 1 1 0 IGFN1 91156 broad.mit.edu 37 1 201195148 201195148 + Silent SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr1:201195148C>T ENST00000335211.4 + 22 10813 c.10683C>T c.(10681-10683)atC>atT p.I3561I IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TCCTGGGCATCCTCCCCGGCC 0.672000 26 54 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558090 140558090 + Nonsense_Mutation SNP G G T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr5:140558090G>T ENST00000239444.2 + 1 720 c.475G>T c.(475-477)Gaa>Taa p.E159* NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 159 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAGAATGCTGAAGACTTAGA 0.438000 24 469 7.92952e-12 8.48925e-12 1 1 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733993 56733993 + Missense_Mutation SNP T T A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr19:56733993T>A ENST00000587340.1 - 6 1401 c.706A>T c.(706-708)Aca>Tca p.T236S ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.T119S|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.T236S|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.T90S|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.T236S Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 236 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TCTGGGGATGTCAGTCCTGGG 0.542000 19 54 0 0 1 0 0 VPS41 27072 broad.mit.edu 37 7 38869862 38869862 + Missense_Mutation SNP C C G TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr7:38869862C>G ENST00000310301.4 - 5 367 c.313G>C c.(313-315)Gat>Cat p.D105H VPS41_ENST00000395969.2_Intron NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 105 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 ACCTTGCCATCCTCTGAACAC 0.433000 6 700 0 0 1 0 0 RAB3D 9545 broad.mit.edu 37 19 11446172 11446172 + Silent SNP G G A rs139194537 byFrequency TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr19:11446172G>A ENST00000222120.3 - 4 683 c.423C>T c.(421-423)gaC>gaT p.D141D RAB3D_ENST00000589655.1_Silent_p.D141D NM_004283.3 NP_004274.1 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 141 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2) 14 CAACACGTTCGTCCTCCAGGT 0.617000 18 29 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112824054 112824054 + Missense_Mutation SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr5:112824054C>T ENST00000408903.3 - 1 473 c.58G>A c.(58-60)Ggc>Agc p.G20S NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 548 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity p.G20S(1) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ccgctgccgccgccgccgccg 0.756000 4 1 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76476820 76476820 + Silent SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr17:76476820G>A ENST00000389840.5 - 49 7780 c.7656C>T c.(7654-7656)taC>taT p.Y2552Y DNAH17_ENST00000585328.1_Silent_p.Y2561Y|DNAH17_ENST00000586052.1_Intron dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGCAGGCCACGTACTGACAAT 0.517000 7 25 0 0 1 0 0 FANCF 2188 broad.mit.edu 37 11 22647101 22647101 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr11:22647101G>A ENST00000327470.3 - 1 286 c.256C>T c.(256-258)Ctc>Ttc p.L86F AC103801.2_ENST00000428556.2_Silent_p.E15E NM_022725.3 NP_073562.1 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 86 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 CAGTGACCGAGGGCCTGGAAG 0.662000 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 65 134 0 0 1 0 0 NDUFB1 4707 broad.mit.edu 37 14 92583984 92583984 + Missense_Mutation SNP T T C TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr14:92583984T>C ENST00000329559.3 - 2 278 c.139A>G c.(139-141)Atc>Gtc p.I47V NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000555441.1_5'UTR|NDUFB1_ENST00000553514.1_5'UTR NM_004545.3 NP_004536.2 O75438 NDUB1_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa 0 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity large_intestine(1)|lung(1) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.205) NADH(DB00157) TTCACCATGATAGCTAAAAGA 0.378000 16 27 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117962852 117962852 + Missense_Mutation SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr12:117962852C>T ENST00000425217.1 - 14 1991 c.1937G>A c.(1936-1938)gGc>gAc p.G646D KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.G372D|KSR2_ENST00000339824.5_Missense_Mutation_p.G675D NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 675 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCCAAAGCGGCCCTTTCCAAT 0.612000 21 42 0 0 1 0 0 CES4A 283848 broad.mit.edu 37 16 67039294 67039294 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr16:67039294G>A ENST00000540947.2 + 11 1497 c.1313G>A c.(1312-1314)cGa>cAa p.R438Q CES4A_ENST00000398354.1_Missense_Mutation_p.R411Q|CES4A_ENST00000326686.5_Missense_Mutation_p.R438Q|CES4A_ENST00000541479.1_Missense_Mutation_p.R434Q|CES4A_ENST00000338718.4_Missense_Mutation_p.R461Q|CES4A_ENST00000540579.1_Missense_Mutation_p.R340Q|CES4A_ENST00000535696.1_Missense_Mutation_p.R344Q NM_173815.6 NP_776176.5 Q5XG92 EST4A_HUMAN carboxylesterase 4A 438 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 CACTACCACCGAGGTATGCAG 0.542000 27 53 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97078470 97078470 + Silent SNP T T C TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr12:97078470T>C ENST00000524981.3 + 8 1114 c.1114T>C c.(1114-1116)Ttg>Ctg p.L372L Q6ZTY8 CL063_HUMAN 346 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 AGTTCAGGCGTTGCATTCACT 0.323000 34 41 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149506164 149506164 + Silent SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr5:149506164C>T ENST00000261799.4 - 11 2062 c.1593G>A c.(1591-1593)aaG>aaA p.K531K NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 531 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TCACCACCACCTTAAAGGGCA 0.572000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 26 17 0 0 1 0 0 MSH6 2956 broad.mit.edu 37 2 48026064 48026064 + Missense_Mutation SNP C C G rs150440246 byFrequency TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr2:48026064C>G ENST00000234420.4 + 4 1094 c.942C>G c.(940-942)agC>agG p.S314R MSH6_ENST00000538136.1_Missense_Mutation_p.S12R|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.S184R NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 314 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAAGGAAAAGCTCTAGGAAGG 0.463000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 85 223 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139413085 139413085 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr9:139413085G>A ENST00000277541.6 - 6 1132 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 353 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.R353C(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GAGGCCACACGGTCATGGCAG 0.652000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 35 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195410689 195410689 + RNA SNP C C T rs6583275 by1000genomes TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr3:195410689C>T ENST00000445430.1 + 0 1886 CTTTGAGGTGCACTGGAGGAA 0.567000 7 32 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69348934 69348934 + Missense_Mutation SNP G G C TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr15:69348934G>C ENST00000260364.5 + 17 2443 c.2142G>C c.(2140-2142)aaG>aaC p.K714N NOX5_ENST00000388866.3_Missense_Mutation_p.K732N|NOX5_ENST00000448182.3_Missense_Mutation_p.K686N|NOX5_ENST00000530406.2_Missense_Mutation_p.K704N|NOX5_ENST00000455873.3_Missense_Mutation_p.K697N Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 732 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 CTGAGAAGAAGGGCAAGGTGC 0.527000 41 53 0 0 1 0 0 FOXR1 283150 broad.mit.edu 37 11 118851366 118851366 + Missense_Mutation SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr11:118851366C>T ENST00000317011.3 + 5 1003 c.778C>T c.(778-780)Cgc>Tgc p.R260C NM_181721.2 NP_859072.1 Q6PIV2 FOXR1_HUMAN forkhead box R1 260 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) GGGACACCGCCGCTTTGCGGA 0.602000 39 102 0 0 1 0 0 DNAJB11 51726 broad.mit.edu 37 3 186289886 186289886 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr3:186289886G>A ENST00000439351.1 + 3 1000 c.71G>A c.(70-72)cGa>cAa p.R24Q DNAJB11_ENST00000265028.3_Missense_Mutation_p.R24Q Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 24 protein folding endoplasmic reticulum lumen heat shock protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) CTTCCCAGACGAGATTTCTAT 0.388000 5 95 0 0 1 0 0 ADHFE1 137872 broad.mit.edu 37 8 67361106 67361106 + Missense_Mutation SNP C C G rs61743396 TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr8:67361106C>G ENST00000396623.3 + 8 666 c.635C>G c.(634-636)aCt>aGt p.T212S ADHFE1_ENST00000415254.1_Missense_Mutation_p.T164S|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T212S|ADHFE1_ENST00000496501.1_3'UTR NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 212 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TTAGGCATCACTTCGAGAGCC 0.443000 46 176 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67031890 67031890 + Missense_Mutation SNP T T C TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr17:67031890T>C ENST00000340001.4 - 7 1064 c.853A>G c.(853-855)Atg>Gtg p.M285V ABCA9_ENST00000370732.2_Missense_Mutation_p.M285V|ABCA9_ENST00000453985.2_Missense_Mutation_p.M285V NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 285 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) ATAAGAGCCATTAAAGTGGCC 0.433000 16 29 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92533084 92533084 + Missense_Mutation SNP T T C TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr11:92533084T>C ENST00000298047.6 + 9 6922 c.6905T>C c.(6904-6906)aTt>aCt p.I2302T FAT3_ENST00000409404.2_Missense_Mutation_p.I2302T|FAT3_ENST00000525166.1_Missense_Mutation_p.I2152T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2302 Cadherin 21. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCATCTCTTATTGGGACACCT 0.378000 TCGA Ovarian(4;0.039) 15 20 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 7 30 0 0 1 0 0 RHO 6010 broad.mit.edu 37 3 129251468 129251468 + Silent SNP C C T rs121918590 TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr3:129251468C>T ENST00000296271.3 + 4 883 c.789C>T c.(787-789)atC>atT p.I263I NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 263 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) CTTTCCTGATCTGCTGGGTGC 0.582000 30 35 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793061 4793061 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr19:4793061G>A ENST00000269856.3 + 1 1334 c.1195G>A c.(1195-1197)Gtg>Atg p.V399M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 399 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CAGGGGTGCCGTGTACGCCGA 0.622000 32 99 0 0 1 0 0 CCDC7 221016 broad.mit.edu 37 10 32760080 32760080 + Missense_Mutation SNP T T C TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr10:32760080T>C ENST00000362006.5 + 7 1142 c.599T>C c.(598-600)gTa>gCa p.V200A CCDC7_ENST00000537047.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000277657.6_Missense_Mutation_p.V200A NM_145023.4 NP_659460.3 Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 200 NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2) 14 Breast(68;0.000207)|Prostate(175;0.0107) GTAAGGCTTGTACAAAGATTT 0.313000 8 17 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67083559 67083559 + Missense_Mutation SNP C C G TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr17:67083559C>G ENST00000284425.2 - 29 3928 c.3754G>C c.(3754-3756)Gat>Cat p.D1252H ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1252 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATATCTTCATCTTCATCTATG 0.373000 4 118 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85518261 85518261 + Missense_Mutation SNP T T G TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr12:85518261T>G ENST00000393217.2 + 17 4032 c.3971T>G c.(3970-3972)cTg>cGg p.L1324R NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1324 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) AATTCTTTGCTGAGGAATCAC 0.318000 8 219 0 0 1 0 0 BCHE 590 broad.mit.edu 37 3 165548003 165548003 + Silent SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr3:165548003G>A ENST00000264381.3 - 2 985 c.819C>T c.(817-819)aaC>aaT p.N273N BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 273 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) ATTTAGCTAAGTTCAACGTTC 0.393000 62 53 0 0 1 0 0 REST 5978 broad.mit.edu 37 4 57777618 57777618 + Missense_Mutation SNP C C A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr4:57777618C>A ENST00000309042.7 + 2 1128 c.814C>A c.(814-816)Cca>Aca p.P272T REST_ENST00000514063.1_3'UTR NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 272 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) AAACCATTTTCCAAGGAAAGT 0.378000 13 35 9.31168e-06 9.85306e-06 1 1 0 LYST 1130 broad.mit.edu 37 1 235969554 235969554 + Missense_Mutation SNP G G C TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr1:235969554G>C ENST00000389794.3 - 6 3056 c.2882C>G c.(2881-2883)gCa>gGa p.A961G LYST_ENST00000389793.2_Missense_Mutation_p.A961G|LYST_ENST00000536965.1_Missense_Mutation_p.A961G Q99698 LYST_HUMAN lysosomal trafficking regulator 961 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CCAAATGTCTGCTGCTTGGTG 0.448000 33 105 0 0 1 0 0 ADH5 128 broad.mit.edu 37 4 99997692 99997692 + Silent SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr4:99997692G>A ENST00000296412.8 - 6 626 c.576C>T c.(574-576)ggC>ggT p.G192G ADH5_ENST00000512991.1_5'UTR NM_000671.3 NP_000662.3 P11766 ADHX_HUMAN alcohol dehydrogenase 5 (class III), chi polypeptide 192 ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) CACAAACAGAGCCAGGCTCCA 0.453000 24 30 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94841761 94841761 + Silent SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr15:94841761C>T ENST00000357742.4 + 1 267 c.267C>T c.(265-267)ccC>ccT p.P89P MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Silent_p.P89P|MCTP2_ENST00000543482.1_Silent_p.P89P NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 89 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GGATCTTTCCCAAGAGCAGCA 0.577000 94 24 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119887190 119887190 + Silent SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr3:119887190G>A ENST00000464295.1 - 10 1579 c.1134C>T c.(1132-1134)aaC>aaT p.N378N GPR156_ENST00000315843.3_Silent_p.N378N|GPR156_ENST00000461057.1_Silent_p.N374N Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 378 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) TCTCTTTGGCGTTGTTTACTT 0.507000 24 63 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48267696 48267696 + Missense_Mutation SNP C C A rs74315133 TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr17:48267696C>A ENST00000225964.5 - 35 2561 c.2443G>T c.(2443-2445)Ggc>Tgc p.G815C NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 815 Triple-helical region. G -> V (in OI2A). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ACAGGGGGGCCAGCAAAGCCA 0.607000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 31 56 3.11337e-16 3.41346e-16 1 1 0 RASGRF1 5923 broad.mit.edu 37 15 79307681 79307681 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr15:79307681G>A ENST00000419573.3 - 13 2088 c.1814C>T c.(1813-1815)cCg>cTg p.P605L RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.P605L NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 605 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GATCATCTGCGGCACAGTGAC 0.517000 47 18 0 0 1 0 0 FAR1 84188 broad.mit.edu 37 11 13721993 13721993 + Missense_Mutation SNP A A G TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr11:13721993A>G ENST00000354817.3 + 3 463 c.319A>G c.(319-321)Att>Gtt p.I107V NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 107 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 TTCTACCAATATTATATTCCA 0.303000 17 44 0 0 1 0 0 NDE1 54820 broad.mit.edu 37 16 15758653 15758653 + Missense_Mutation SNP G G C TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr16:15758653G>C ENST00000396355.1 + 3 844 c.18G>C c.(16-18)aaG>aaC p.K6N NDE1_ENST00000342673.5_Missense_Mutation_p.K6N|NDE1_ENST00000396354.1_Missense_Mutation_p.K6N|NDE1_ENST00000396353.2_Missense_Mutation_p.K6N NM_001143979.1 NP_001137451.1 Q9NXR1 NDE1_HUMAN nudE neurodevelopment protein 1 6 Self-association (By similarity). cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 ACTCCGGAAAGACTTTCAGCT 0.453000 33 178 0 0 1 0 0 COLEC11 78989 broad.mit.edu 37 2 3691474 3691474 + Silent SNP G G T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr2:3691474G>T ENST00000403096.3 + 6 995 c.504G>T c.(502-504)gcG>gcT p.A168A COLEC11_ENST00000402922.1_Silent_p.A144A|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.A120A|COLEC11_ENST00000402794.1_Silent_p.A144A|COLEC11_ENST00000382062.2_Silent_p.A170A|COLEC11_ENST00000349077.4_Silent_p.A194A|COLEC11_ENST00000236693.7_Silent_p.A191A|COLEC11_ENST00000418971.2_Silent_p.A208A NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 194 C-type lectin. collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CATACCTGGCGCAAGCCGGCC 0.662000 24 54 2.52088e-20 2.79756e-20 1 1 0 ARHGAP39 80728 broad.mit.edu 37 8 145756232 145756232 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr8:145756232G>A ENST00000276826.5 - 9 3112 c.2911C>T c.(2911-2913)Cgg>Tgg p.R971W ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1002W|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R971W Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 971 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TCCAGCTCCCGGTACCACAGC 0.711000 11 64 0 0 1 0 0 GPR68 8111 broad.mit.edu 37 14 91701363 91701363 + Missense_Mutation SNP A A G TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr14:91701363A>G ENST00000535815.1 - 2 372 c.32T>C c.(31-33)aTg>aCg p.M11T GPR68_ENST00000238699.3_Missense_Mutation_p.M21T|GPR68_ENST00000531499.2_Missense_Mutation_p.M11T NM_001177676.1 NP_001171147.1 Q15743 OGR1_HUMAN G protein-coupled receptor 68 11 inflammatory response integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 8 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) GGTACAGCTCATCGAGGAGTT 0.612000 20 47 0 0 1 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49032432 49032432 + Missense_Mutation SNP G G T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chrX:49032432G>T ENST00000376317.3 - 9 1532 c.1438C>A c.(1438-1440)Ctg>Atg p.L480M PRICKLE3_ENST00000540849.1_Missense_Mutation_p.L412M|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.L399M|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.L316M NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 480 Missing (in Ref. 5; AAB92357). protein binding|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 TCAGACACCAGAGGGTCGCGG 0.741000 5 7 0.000602214 0.000615747 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186114938 186114938 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr1:186114938G>A ENST00000271588.4 + 93 14720 c.14491G>A c.(14491-14493)Gga>Aga p.G4831R HMCN1_ENST00000367492.2_Missense_Mutation_p.G4831R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4831 TSP type-1 6. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGCCTCCTGTGGAGGAGGTGA 0.532000 37 96 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30732969 30732969 + Missense_Mutation SNP C C T rs104893810 TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr3:30732969C>T ENST00000295754.5 + 7 1964 c.1582C>T c.(1582-1584)Cgt>Tgt p.R528C TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 528 Protein kinase. R -> C (in LDS1B).|R -> H (in LDS1B). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding p.R528C(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CCCAGAGGCCCGTCTCACAGC 0.597000 28 36 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21837411 21837411 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr14:21837411G>A ENST00000216297.2 - 6 1072 c.734C>T c.(733-735)cCt>cTt p.P245L NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 245 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CTGAATGATAGGAGGGTAACA 0.408000 23 47 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2632856 2632856 + Missense_Mutation SNP G G C TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr4:2632856G>C ENST00000324666.5 + 3 476 c.125G>C c.(124-126)tGc>tCc p.C42S FAM193A_ENST00000505311.1_Missense_Mutation_p.C42S|FAM193A_ENST00000502458.1_Missense_Mutation_p.C42S|FAM193A_ENST00000382839.3_Missense_Mutation_p.C42S|FAM193A_ENST00000545951.1_Missense_Mutation_p.C42S NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 42 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GGCGCCCTCTGCCAGGCCGCA 0.587000 15 86 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117391933 117391933 + Silent SNP C C T rs147591517 TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr11:117391933C>T ENST00000321322.6 - 6 1306 c.1305G>A c.(1303-1305)tcG>tcA p.S435S DSCAML1_ENST00000527706.1_Silent_p.S165S NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 375 Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TCTTCTGGGCCGAGGTGATGA 0.632000 66 211 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183777668 183777668 + Silent SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr3:183777668C>T ENST00000318351.1 + 8 1012 c.978C>T c.(976-978)acC>acT p.T326T NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 326 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TGCTGGAGACCGTCTTCATTA 0.562000 32 140 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36221489 36221489 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr19:36221489G>A ENST00000420124.1 + 25 5248 c.5248G>A c.(5248-5250)Gag>Aag p.E1750K KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.E1750K CTCGGACTGCGAGGGACGGCT 0.607000 7 393 0 0 1 0 0 C4orf22 255119 broad.mit.edu 37 4 81504291 81504291 + Missense_Mutation SNP C C T rs142731425 byFrequency TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr4:81504291C>T ENST00000358105.3 + 3 336 c.287C>T c.(286-288)aCg>aTg p.T96M C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.T96M NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 96 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 AATTTTCTGACGGCCCTGGCA 0.353000 14 55 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8393845 8393845 + Missense_Mutation SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr17:8393845C>T ENST00000360416.3 - 35 4835 c.4697G>A c.(4696-4698)cGg>cAg p.R1566Q MYH10_ENST00000396239.1_Missense_Mutation_p.R1556Q|MYH10_ENST00000379980.4_Missense_Mutation_p.R1551Q|MYH10_ENST00000269243.4_Missense_Mutation_p.R1535Q NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1535 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CTCTAGGGCCCGTTTGGATTT 0.522000 4 94 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32812053 32812053 + Silent SNP G G T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr13:32812053G>T ENST00000380250.3 + 44 6844 c.6348G>T c.(6346-6348)ctG>ctT p.L2116L NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2116 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCACAGACCTGACCCTGCAGC 0.542000 43 86 9.39024e-22 1.05495e-21 1 1 0 BTBD7 55727 broad.mit.edu 37 14 93760714 93760714 + Missense_Mutation SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr14:93760714C>T ENST00000334746.5 - 3 959 c.652G>A c.(652-654)Gat>Aat p.D218N BTBD7_ENST00000555525.1_Missense_Mutation_p.D218N|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.D218N NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 218 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) ACAAGGATATCGACATTTTGA 0.383000 18 33 0 0 1 0 0 EVX2 344191 broad.mit.edu 37 2 176948135 176948135 + Missense_Mutation SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr2:176948135C>T ENST00000308618.4 - 1 506 c.370G>A c.(370-372)Gcg>Acg p.A124T NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 124 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) GAGCGAAGCGCGGAGCAGCCC 0.672000 9 26 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14827630 14827630 + Missense_Mutation SNP A A G TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr12:14827630A>G ENST00000261170.3 - 8 1149 c.1013T>C c.(1012-1014)aTa>aCa p.I338T RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 338 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TTCAAGAAATATCTTCAGCAT 0.368000 41 72 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146273490 146273490 + Missense_Mutation SNP A A G TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr6:146273490A>G ENST00000367503.3 - 3 1156 c.758T>C c.(757-759)aTt>aCt p.I253T SHPRH_ENST00000367505.2_Missense_Mutation_p.I253T|SHPRH_ENST00000275233.7_Missense_Mutation_p.I253T|SHPRH_ENST00000438092.2_Missense_Mutation_p.I253T NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 253 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) ATTACCTGGAATAATAGAATT 0.323000 6 7 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54723046 54723046 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr19:54723046G>A ENST00000391750.1 - 9 1514 c.1378C>T c.(1378-1380)Ctc>Ttc p.L460F LILRA6_ENST00000440558.2_Missense_Mutation_p.L460F|LILRA6_ENST00000419410.2_Missense_Mutation_p.L460F|LILRB3_ENST00000424807.1_Missense_Mutation_p.L460F|LILRB3_ENST00000407860.2_Missense_Mutation_p.L477F|LILRB3_ENST00000346401.6_Missense_Mutation_p.L472F|LILRA6_ENST00000270464.5_Missense_Mutation_p.L460F|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000245620.9_Missense_Mutation_p.L460F|LILRB3_ENST00000469273.1_5'UTR O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 460 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) aggaggaagaggaggaggaag 0.592000 4 26 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 4 97 0.150653 0.150653 1 1 0 CHD2 1106 broad.mit.edu 37 15 93499774 93499774 + Missense_Mutation SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr15:93499774C>T ENST00000394196.4 + 16 2963 c.1895C>T c.(1894-1896)aCt>aTt p.T632I CHD2_ENST00000557381.1_Missense_Mutation_p.T632I NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 632 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TTGTATAAAACTCTGATTGAT 0.443000 4 77 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344032 53344032 + Missense_Mutation SNP A A T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr19:53344032A>T ENST00000595646.1 - 4 1635 c.1515T>A c.(1513-1515)agT>agA p.S505R ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.S452R|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.S452R Q5VIY5 ZN468_HUMAN zinc finger protein 468 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) ATGACATCTGACTGAAGGTCT 0.443000 56 118 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296135 20296135 + Missense_Mutation SNP C C A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr14:20296135C>A ENST00000568211.1 + 1 528 c.528C>A c.(526-528)aaC>aaA p.N176K OR4N2_ENST00000315947.1_Missense_Mutation_p.N176K Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGCTGGACAACTTCTTCTGTG 0.527000 50 163 3.10996e-30 3.53758e-30 1 1 0 DNAH3 55567 broad.mit.edu 37 16 21156602 21156602 + Missense_Mutation SNP C C A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr16:21156602C>A ENST00000261383.3 - 3 347 c.348G>T c.(346-348)ttG>ttT p.L116F DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.L116F NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 116 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCTGGGCCATCAAGGAGTAGT 0.572000 4 37 0.00024832 0.000259737 1 1 0 DAB2IP 153090 broad.mit.edu 37 9 124535130 124535130 + Nonsense_Mutation SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr9:124535130C>T ENST00000408936.3 + 12 2505 c.2323C>T c.(2323-2325)Cag>Tag p.Q775* DAB2IP_ENST00000309989.1_Nonsense_Mutation_p.Q651*|DAB2IP_ENST00000259371.2_Nonsense_Mutation_p.Q747* Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 775 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 CACAGATGGGCAGGCCGCTGC 0.741000 17 15 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128466386 128466386 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr2:128466386G>A ENST00000322313.4 - 21 3804 c.3646C>T c.(3646-3648)Cgc>Tgc p.R1216C NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1216 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GAAGAGGAGCGTTCTCTGCTG 0.567000 21 89 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54313428 54313428 + Silent SNP G G C TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr19:54313428G>C ENST00000324134.6 - 3 1653 c.1485C>G c.(1483-1485)ctC>ctG p.L495L NLRP12_ENST00000391775.3_Silent_p.L495L|NLRP12_ENST00000391772.1_Silent_p.L495L|NLRP12_ENST00000535162.1_Silent_p.L495L|NLRP12_ENST00000391773.1_Silent_p.L495L|NLRP12_ENST00000345770.5_Silent_p.L495L|NLRP12_ENST00000354278.3_Silent_p.L495L|NLRP12_ENST00000351894.4_Silent_p.L495L NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 495 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TGTTCATGTTGAGGAAGGCAG 0.502000 6 144 0 0 1 0 0 SPATS1 221409 broad.mit.edu 37 6 44337830 44337830 + Silent SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr6:44337830G>A ENST00000288390.2 + 6 1085 c.738G>A c.(736-738)gaG>gaA p.E246E SPATS1_ENST00000323108.8_Silent_p.E246E Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 246 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TTCCACTTGAGCCTCTTCCAC 0.343000 15 47 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57769568 57769568 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr20:57769568G>A ENST00000371030.2 + 1 3494 c.3494G>A c.(3493-3495)cGc>cAc p.R1165H NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1165 intracellular nucleic acid binding|zinc ion binding p.R1165H(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CACAGCACCCGCAGTCCCCAC 0.672000 4 153 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 418799 418799 + Missense_Mutation SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr11:418799C>T ENST00000332826.6 - 22 2135 c.2051G>A c.(2050-2052)cGc>cAc p.R684H NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 684 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 GGGGGGATTGCGGTAGTCCCT 0.577000 47 133 0 0 1 0 0 ENO3 2027 broad.mit.edu 37 17 4858480 4858480 + Silent SNP C C T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr17:4858480C>T ENST00000323997.6 + 7 687 c.555C>T c.(553-555)ggC>ggT p.G185G ENO3_ENST00000519584.1_Silent_p.G142G|ENO3_ENST00000518175.1_Silent_p.G185G NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 185 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 TGCGCATTGGCGCCGAGGTCT 0.577000 4 103 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 983661 983661 + Frame_Shift_Del DEL G G - TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr1:983661delG ENST00000379370.2 + 23 4071 c.4021delG c.(4021-4023)ggfs p.G1342fs NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1342 EGF-like 1. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CTGCTTCCACGGGGGGACCTG 0.716 2 4 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 9 264 --- --- --- --- PTGS2 5743 broad.mit.edu 37 1 186646921 186646922 + Frame_Shift_Ins INS - - T TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr1:186646921_186646922insT ENST00000367468.5 - 5 634_635 c.498_499insA c.(496-501)aatgctfs p.NA166fs PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 166 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) CTTAGAAGCAATTTTTCCACAA 0.391 8 82 --- --- --- --- MYT1L 23040 broad.mit.edu 37 2 1947087 1947087 + Frame_Shift_Del DEL C C - TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr2:1947087delC ENST00000399161.2 - 9 919 c.172delG c.(172-174)cgfs p.A58fs MYT1L_ENST00000428368.2_Frame_Shift_Del_p.A58fs NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 58 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTTTTTTTCGCCAAGGGACAA 0.408 2 4 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197878278 197878279 + Frame_Shift_Del DEL AA AA - TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr2:197878278_197878279delAA ENST00000328737.2 - 18 1881_1882 c.1805_1806delTT c.(1804-1806)tfs p.F602fs ANKRD44_ENST00000282272.8_Frame_Shift_Del_p.F619fs|ANKRD44_ENST00000450567.1_Frame_Shift_Del_p.F602fs|ANKRD44_ENST00000337207.5_Frame_Shift_Del_p.F602fs Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 627 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGTCTTTCACAAAGATGGATGC 0.470 50 143 --- --- --- --- CPOX 1371 broad.mit.edu 37 3 98243852 98243853 + RNA DEL TT TT - rs148870367 TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr3:98243852_98243853delTT ENST00000502999.1 + 0 264 GAGAACAGTCTTTTTTTTTTTT 0.347 4 2 --- --- --- --- FBXW7 55294 broad.mit.edu 37 4 153249517 153249526 + Frame_Shift_Del DEL TATGTCCCAC TATGTCCCAC - TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr4:153249517_153249526delTATGTCCCAC ENST00000281708.4 - 9 2481_2490 c.1252_1261delGTGGGACATA c.(1252-1263)cafs p.VGHT418fs FBXW7_ENST00000296555.5_Frame_Shift_Del_p.VGHT300fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.VGHT418fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.VGHT418fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.VGHT338fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.VGHT242fs NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 418 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.H420Y(1)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ACTCCACCTGTATGTCCCACTAATGTTCTC 0.357 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 73 55 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187630162 187630163 + Frame_Shift_Ins INS - - A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr4:187630162_187630163insA ENST00000441802.2 - 2 1028_1029 c.819_820insT c.(817-822)tacaatfs p.N274fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 274 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTCACAATTGCATATGCTGGGT 0.505 HNSCC(5;0.00058) 200 129 --- --- --- --- CEP164P1 100289237 broad.mit.edu 37 10 45551207 45551207 + RNA DEL T T - TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr10:45551207delT ENST00000456938.2 - 0 411 ATACCTTCAATCAAAAACCTT 0.358 2 4 --- --- --- --- SPTBN2 6712 broad.mit.edu 37 11 66483306 66483306 + Frame_Shift_Del DEL T T - TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr11:66483306delT ENST00000533211.1 - 4 635 c.304delA c.(304-306)tafs p.I102fs SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.I102fs|SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.I102fs O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 102 Actin-binding.|CH 1. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CTCACCAGTATCTCTCCCGAG 0.637 8 38 --- --- --- --- PLEKHG6 55200 broad.mit.edu 37 12 6436582 6436583 + In_Frame_Ins INS - - GCC TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr12:6436582_6436583insGCC ENST00000449001.2 + 14 2231_2232 c.1737_1738insGCC c.(1735-1740)agccct>agGCCccct p.579_579S>RP PLEKHG6_ENST00000396988.3_In_Frame_Ins_p.611_611S>RP|PLEKHG6_ENST00000011684.7_In_Frame_Ins_p.611_611S>RP|PLEKHG6_ENST00000304581.8_In_Frame_Ins_p.141_141S>RP NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 611 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 TACGCCAAAGAGCCCTTCGGCG 0.658 79 178 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49445506 49445521 + Frame_Shift_Del DEL ATAGGCGCGATACCTC ATAGGCGCGATACCTC - TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr12:49445506_49445521delATAGGCGCGATACCTC ENST00000301067.7 - 10 1944_1959 c.1945_1960delGAGGTATCGCGCCTAT c.(1945-1962)ccfs p.EVSRLS649fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGCAGGGGGGATAGGCGCGATACCTCAGGTGGGGGG 0.639 11 72 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47809071 47809071 + Frame_Shift_Del DEL A A - TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr18:47809071delA ENST00000285106.6 - 15 2577 c.1863delT c.(1861-1863)aafs p.N621fs CXXC1_ENST00000412036.2_Frame_Shift_Del_p.N625fs|CXXC1_ENST00000589940.1_Frame_Shift_Del_p.M609fs NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 621 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 CTGTGCGCACATTGCGCTCCT 0.647 30 63 --- --- --- --- KIAA1683 80726 broad.mit.edu 37 19 18368905 18368909 + Frame_Shift_Del DEL GTCCG GTCCG - rs61746499 byFrequency TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr19:18368905_18368909delGTCCG ENST00000392413.3 - 4 3400_3404 c.3185_3189delCGGAC c.(3184-3189)gfs p.AD1062fs KIAA1683_ENST00000600328.2_Frame_Shift_Del_p.AD875fs|KIAA1683_ENST00000600359.2_Frame_Shift_Del_p.AD829fs NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 1076 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CCACACCAGCGTCCGCGGGGCCCTG 0.639 17 81 --- --- --- --- CEACAM20 125931 broad.mit.edu 37 19 45015427 45015427 + RNA DEL T T - TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr19:45015427delT ENST00000454753.1 - 0 1891 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) CCCAGCCTCCTTTTCACCCCA 0.552 2 4 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1188c0e9-1f41-4b7e-8bfb-b6ad5a724466 46f9d879-7a87-4b25-adcb-bc10db818781 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000424032.2_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 5 10 --- --- --- ---