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 MYH2 4620 broad.mit.edu 37 17 10436865 10436865 + Silent SNP G G A rs146411264 TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr17:10436865G>A ENST00000245503.5 - 20 2649 c.2265C>T c.(2263-2265)atC>atT p.I755I CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I755I NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 755 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GGTCAATGTCGATGGATGCAA 0.403000 7 466 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328906 57328906 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr19:57328906G>A ENST00000326441.9 - 10 1267 c.904C>T c.(904-906)Cgg>Tgg p.R302W ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R302W|PEG3_ENST00000593695.1_Missense_Mutation_p.R176W|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R178W|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 302 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CAAATCCCCCGCCGGTGGGTT 0.458000 121 335 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212209261 212209261 + Missense_Mutation SNP C C G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:212209261C>G ENST00000366991.4 + 1 343 c.29C>G c.(28-30)cCc>cGc p.P10R DTL_ENST00000542077.1_Missense_Mutation_p.P10R|DTL_ENST00000475419.1_3'UTR NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 10 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) CTCCGCCAGCCCCAGCTTGGC 0.572000 38 97 0 0 1 0 0 SHOC2 8036 broad.mit.edu 37 10 112724158 112724158 + Silent SNP A A G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr10:112724158A>G ENST00000369452.4 + 2 387 c.42A>G c.(40-42)aaA>aaG p.K14K SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.K14K NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 14 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) CTAAAGAAAAAGATCCCAAAG 0.383000 4 168 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70488845 70488845 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:70488845C>T ENST00000310961.5 + 18 1901 c.1483C>T c.(1483-1485)Cgt>Tgt p.R495C RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.R490C|LRRC7_ENST00000415775.2_Intron Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 490 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AAGGGGCCAGCGTGGGATTAC 0.542000 56 75 0 0 1 0 0 CBFB 865 broad.mit.edu 37 16 67070587 67070587 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr16:67070587G>A ENST00000290858.6 + 3 472 c.211G>A c.(211-213)Gcc>Acc p.A71T CBFB_ENST00000561924.2_5'UTR|CBFB_ENST00000412916.2_Missense_Mutation_p.A71T NM_001755.2|NM_022845.2 NP_001746.1|NP_074036.1 Q13951 PEBB_HUMAN core-binding factor, beta subunit 71 transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(3)|large_intestine(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066) GTTTTTTCCGGCCAGCTGGCA 0.423000 T MYH11 AML 6 485 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 59 0 0 1 0 0 FGF18 8817 broad.mit.edu 37 5 170876235 170876235 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr5:170876235G>A ENST00000274625.5 + 4 879 c.335G>A c.(334-336)cGc>cAc p.R112H NM_003862.2 NP_003853.1 O76093 FGF18_HUMAN fibroblast growth factor 18 112 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGCATGAACCGCAAAGGCAAG 0.567000 5 287 0 0 1 0 0 PMEPA1 56937 broad.mit.edu 37 20 56234669 56234669 + Missense_Mutation SNP T T C TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr20:56234669T>C ENST00000341744.3 - 2 513 c.194A>G c.(193-195)tAc>tGc p.Y65C PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y15C|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y15C|PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y15C|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y30C NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 65 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 AGACAGCTTGTAGTGGCTCAG 0.577000 19 47 0 0 1 0 0 PCDHA1 0 broad.mit.edu 37 5 140167552 140167552 + Silent SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr5:140167552C>T ENST00000504120.2 + 1 1677 c.1677C>T c.(1675-1677)aaC>aaT p.N559N PCDHA1_ENST00000378133.3_Silent_p.N559N|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACGAGAACGACAACGCGC 0.672000 147 403 0 0 1 0 0 DBF4B 80174 broad.mit.edu 37 17 42828492 42828492 + Silent SNP G G A rs148114647 byFrequency TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr17:42828492G>A ENST00000315005.3 + 14 1857 c.1719G>A c.(1717-1719)ccG>ccA p.P573P DBF4B_ENST00000393547.2_Intron NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 573 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) CCTCACATCCGTGTACCCTTG 0.547000 100 430 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125557566 125557566 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr10:125557566C>T ENST00000241305.3 - 6 969 c.815G>A c.(814-816)cGc>cAc p.R272H CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 272 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) AGGGTTTATGCGGATGTAGCG 0.517000 4 215 0 0 1 0 0 PLA2G2C 391013 broad.mit.edu 37 1 20501534 20501534 + Missense_Mutation SNP C C A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:20501534C>A ENST00000429261.2 - 2 205 c.145G>T c.(145-147)Ggg>Tgg p.G49W PLA2G2C_ENST00000495760.2_5'UTR|PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G52W phospholipase A2, group IIC NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1) 7 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCTTTATCCCCAAGCCCACAG 0.502000 5 127 0.0215528 0.0221745 1 1 0 ESRRG 2104 broad.mit.edu 37 1 216680448 216680448 + Missense_Mutation SNP C C A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:216680448C>A ENST00000391890.3 - 9 1679 c.1162G>T c.(1162-1164)Gct>Tct p.A388S ESRRG_ENST00000366937.1_Missense_Mutation_p.A416S|ESRRG_ENST00000463665.1_Missense_Mutation_p.A342S|ESRRG_ENST00000493748.1_Missense_Mutation_p.A381S|ESRRG_ENST00000493603.1_Missense_Mutation_p.A381S|ESRRG_ENST00000408911.3_Missense_Mutation_p.A404S|ESRRG_ENST00000487276.1_Missense_Mutation_p.A381S|ESRRG_ENST00000361525.3_Missense_Mutation_p.A381S|ESRRG_ENST00000366938.2_Missense_Mutation_p.A381S|ESRRG_ENST00000359162.2_Missense_Mutation_p.A381S|ESRRG_ENST00000366940.2_Missense_Mutation_p.A381S|ESRRG_ENST00000360012.3_Missense_Mutation_p.A381S|ESRRG_ENST00000361395.2_Missense_Mutation_p.A381S NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 404 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TGCTGGCCAGCTTCATAATCC 0.498000 8 439 0.00307968 0.00323064 1 1 0 KCNQ3 3786 broad.mit.edu 37 8 133141815 133141815 + Silent SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr8:133141815C>T ENST00000388996.4 - 15 2733 c.2313G>A c.(2311-2313)tcG>tcA p.S771S KCNQ3_ENST00000521134.1_Silent_p.S651S|KCNQ3_ENST00000519445.1_Silent_p.S759S NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 771 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AGATTCGGTCCGAGTAGGGGC 0.607000 5 182 0 0 1 0 0 HOXA3 3200 broad.mit.edu 37 7 27148046 27148046 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr7:27148046C>T ENST00000396352.4 - 3 1019 c.820G>A c.(820-822)Ggt>Agt p.G274S HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.G274S NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 274 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 AGATAGCCACCGGCTCCGGGG 0.627000 82 278 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752184 247752184 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:247752184C>T ENST00000320065.1 + 1 523 c.523C>T c.(523-525)Cgc>Tgc p.R175C RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R175C(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTGTGGGCATCGCCAAGTGGA 0.557000 5 393 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 5 249 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241797637 241797637 + Missense_Mutation SNP T T C TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:241797637T>C ENST00000366553.1 - 1 1595 c.1432A>G c.(1432-1434)Ata>Gta p.I478V OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 478 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) GGAGGAACTATCAGAATGGAA 0.428000 31 386 0 0 1 0 0 TTLL12 23170 broad.mit.edu 37 22 43575882 43575882 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr22:43575882G>A ENST00000216129.6 - 4 734 c.671C>T c.(670-672)aCg>aTg p.T224M NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 224 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) CCACAGCAGCGTGTAGGCCAC 0.657000 4 160 0 0 1 0 0 LINC00957 0 broad.mit.edu 37 7 44080405 44080405 + RNA SNP A A G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr7:44080405A>G ENST00000441052.1 + 0 1090 AGAGGAGGTCACGGTCAGCGC 0.672000 5 25 0 0 1 0 0 RAB27A 5873 broad.mit.edu 37 15 55497880 55497880 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr15:55497880G>A ENST00000396307.2 - 6 742 c.491C>T c.(490-492)gCt>gTt p.A164V RAB27A_ENST00000569493.1_Missense_Mutation_p.A164V|RAB27A_ENST00000564609.1_Missense_Mutation_p.A164V|RAB27A_ENST00000336787.1_Missense_Mutation_p.A164V NM_004580.4 NP_004571.2 P51159 RB27A_HUMAN RAB27A, member RAS oncogene family 164 small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1) 9 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) CCCATTGGCAGCACTAGTTTC 0.443000 5 355 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7574018 7574018 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr17:7574018G>A ENST00000269305.4 - 10 1198 c.1009C>T c.(1009-1011)Cgc>Tgc p.R337C TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 337 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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) ATCTCGAAGCGCTCACGCCCA 0.522000 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) 38 47 0 0 1 0 0 BANP 54971 broad.mit.edu 37 16 88061097 88061097 + Missense_Mutation SNP T T C TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr16:88061097T>C ENST00000393207.1 + 8 1101 c.880T>C c.(880-882)Ttc>Ctc p.F294L BANP_ENST00000355022.4_Missense_Mutation_p.F263L|BANP_ENST00000286122.7_Missense_Mutation_p.F294L|BANP_ENST00000393208.2_Missense_Mutation_p.F263L|BANP_ENST00000538234.1_Missense_Mutation_p.F302L|BANP_ENST00000479780.2_Missense_Mutation_p.F263L|BANP_ENST00000355163.5_Missense_Mutation_p.F269L NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 294 BEN.|Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) AGGTCACCTTTTCTATAAATT 0.617000 94 221 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115970681 115970681 + Missense_Mutation SNP G G T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr10:115970681G>T ENST00000251864.2 + 13 1768 c.1615G>T c.(1615-1617)Gat>Tat p.D539Y TDRD1_ENST00000369282.1_Missense_Mutation_p.D539Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D539Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D200Y|TDRD1_ENST00000369280.1_Missense_Mutation_p.D539Y NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 539 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TCCACGCTCTGATTTTTATCC 0.348000 77 199 6.8793e-45 7.4352e-45 1 1 0 BCL7A 605 broad.mit.edu 37 12 122492809 122492809 + Missense_Mutation SNP G G A rs148056282 TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr12:122492809G>A ENST00000538010.1 + 5 3208 c.538G>A c.(538-540)Gca>Aca p.A180T BCL7A_ENST00000261822.4_Missense_Mutation_p.A180T NM_020993.3 NP_066273.1 Q4VC05 BCL7A_HUMAN B-cell CLL/lymphoma 7A 180 negative regulation of transcription, DNA-dependent haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231) GGGTCTGGCCGCAGAGACGTC 0.567000 T MYC BNHL OREG0022214 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 293 0 0 1 0 0 HLA-V 0 broad.mit.edu 37 6 29761774 29761774 + RNA SNP G G C TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr6:29761774G>C ENST00000457107.1 + 0 1000 tcctcagcaggattggtgcaa 0.542000 3 35 0 0 1 0 0 TACR1 6869 broad.mit.edu 37 2 75425709 75425709 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr2:75425709C>T ENST00000305249.4 - 1 1117 c.352G>A c.(352-354)Gcc>Acc p.A118T TACR1_ENST00000409848.3_Missense_Mutation_p.A118T NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 118 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) TAGATACTGGCGAAGACAGCG 0.498000 8 351 0 0 1 0 0 NPIPB11 728888 broad.mit.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr16:29415043G>A ENST00000524087.1 - 2 155 c.81C>T c.(79-81)caC>caT p.H27H SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 p.H27H(24) CTGACTTTACGTGCTGCTGCA 0.577000 3 52 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20006615 20006615 + Missense_Mutation SNP C C T rs140778301 TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr13:20006615C>T ENST00000400230.2 - 16 1264 c.1220G>A c.(1219-1221)cGt>cAt p.R407H TPTE2_ENST00000457266.2_Missense_Mutation_p.R296H|TPTE2_ENST00000255310.6_Missense_Mutation_p.R330H|TPTE2_ENST00000400103.2_Missense_Mutation_p.R296H|TPTE2_ENST00000390680.2_Missense_Mutation_p.R330H|TPTE2_ENST00000382978.1_Missense_Mutation_p.R367H|TPTE2_ENST00000382977.4_Missense_Mutation_p.R407H|TPTE2_ENST00000382975.4_Missense_Mutation_p.R367H Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 407 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GCACTTACCACGAATCGAATA 0.393000 4 181 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97849220 97849220 + Nonsense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr2:97849220G>A ENST00000420699.2 + 27 2106 c.1862G>A c.(1861-1863)tGg>tAg p.W621* ANKRD36_ENST00000461153.2_Nonsense_Mutation_p.W621* NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 621 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CAATCGGCCTGGAAGGTAGTT 0.289000 11 34 0 0 1 0 0 SLC10A3 8273 broad.mit.edu 37 X 153717321 153717321 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chrX:153717321G>A ENST00000393586.1 - 3 221 c.124C>T c.(124-126)Cgc>Tgc p.R42C SLC10A3_ENST00000393587.4_5'UTR|SLC10A3_ENST00000369649.4_5'UTR|SLC10A3_ENST00000263512.4_5'UTR P09131 P3_HUMAN solute carrier family 10, member 3 0 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGCCCTCTGCGGCTTAGGAGA 0.622000 7 15 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37012789 37012789 + Silent SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr13:37012789C>T ENST00000418263.1 + 5 1025 c.675C>T c.(673-675)caC>caT p.H225H CCNA1_ENST00000440264.1_Silent_p.H182H|CCNA1_ENST00000255465.4_Silent_p.H226H|CCNA1_ENST00000449823.1_Silent_p.H182H NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 226 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) AGATAAGGCACAGACCCAAAG 0.418000 41 107 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717418 13717418 + Silent SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr12:13717418C>T ENST00000279593.3 - 13 2963 c.2754G>A c.(2752-2754)ccG>ccA p.P918P NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 918 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.P918P(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGGCGCTCTGCGGTGAGCCAT 0.572000 6 634 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 8 318 0.000157383 0.0001684 1 1 0 HINFP 25988 broad.mit.edu 37 11 119004822 119004822 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr11:119004822C>T ENST00000350777.2 + 10 1231 c.1168C>T c.(1168-1170)Cgg>Tgg p.R390W HINFP_ENST00000527410.1_Silent_p.C410C NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 390 Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding. DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding p.R390W(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TGGCTATATGCGGCTGCAGCT 0.567000 OREG0021397 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 324 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20056679 20056679 + Missense_Mutation SNP T T G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr13:20056679T>G ENST00000400230.2 - 4 172 c.128A>C c.(127-129)gAa>gCa p.E43A TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 43 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.E43A(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GGAAAGTCGTTCTAACATACT 0.313000 5 264 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35608224 35608224 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr8:35608224C>T ENST00000287272.2 + 12 1873 c.1853C>T c.(1852-1854)gCc>gTc p.A618V UNC5D_ENST00000416672.1_Missense_Mutation_p.A692V|UNC5D_ENST00000404895.2_Missense_Mutation_p.A687V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A263V|UNC5D_ENST00000420357.1_Missense_Mutation_p.A620V|UNC5D_ENST00000453357.2_Missense_Mutation_p.A682V Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 687 ZU5. apoptosis|axon guidance integral to membrane receptor activity p.A682V(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) ACAGACTGTGCCGTGAAGCAA 0.502000 5 397 0 0 1 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36557583 36557583 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:36557583G>A ENST00000373178.4 + 4 619 c.589G>A c.(589-591)Gct>Act p.A197T NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 197 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) GCAGGCCCTGGCTGTGCACCT 0.627000 4 168 0 0 1 0 0 MAPK13 5603 broad.mit.edu 37 6 36106684 36106684 + Missense_Mutation SNP G G C TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr6:36106684G>C ENST00000211287.4 + 11 1132 c.870G>C c.(868-870)gaG>gaC p.E290D MAPK13_ENST00000373766.5_Missense_Mutation_p.A240P|MAPK13_ENST00000373761.6_Missense_Mutation_p.E280D|MAPK13_ENST00000373759.1_3'UTR NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 290 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 AGATGCTGGAGCTAGACGTGG 0.667000 45 111 0 0 1 0 0 MMACHC 25974 broad.mit.edu 37 1 45974781 45974781 + Missense_Mutation SNP C C A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:45974781C>A ENST00000401061.4 + 4 1023 c.743C>A c.(742-744)cCg>cAg p.P248Q NM_015506.2 NP_056321.2 Q9Y4U1 MMAC_HUMAN methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 248 cobalamin binding p.P248L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(166;0.155) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCTCCCTCCCCGGACCTTCCC 0.622000 5 431 0.248553 0.248553 1 1 0 IFIT1 3434 broad.mit.edu 37 10 91162577 91162577 + Missense_Mutation SNP C C T rs146515241 TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr10:91162577C>T ENST00000546318.1 + 2 1739 c.452C>T c.(451-453)gCg>gTg p.A151V LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.A182V NM_001270928.1|NM_001270929.1|NM_001270930.1 NP_001257857.1|NP_001257858.1|NP_001257859.1 P09914 IFIT1_HUMAN interferon-induced protein with tetratricopeptide repeats 1 182 cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway cytoplasm protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 15 GCTGGGTATGCGATCTCTGCC 0.478000 7 781 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231664 7231664 + Silent SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr18:7231664G>A ENST00000383467.2 + 1 542 c.528G>A c.(526-528)gcG>gcA p.A176A NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 176 p.A176A(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 ACTTCTTCGCGCACATCCCCA 0.552000 5 415 0 0 1 0 0 CBWD1 55871 broad.mit.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr9:164038C>G ENST00000377447.3 - 5 486 c.e5-1 CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site Q9BRT8 CBWD1_HUMAN COBW domain containing 1 ATP binding|protein binding p.?(2) kidney(1)|lung(2)|ovary(1)|skin(1) 5 all_lung(41;0.218) all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCCACTGCACCTGAAAATATA 0.284000 6 840 0 0 1 0 0 NUMA1 0 broad.mit.edu 37 11 71726747 71726747 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr11:71726747G>A ENST00000393695.3 - 15 2133 c.1802C>T c.(1801-1803)gCg>gTg p.A601V RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A601V NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 601 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity p.A601V(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CTTGAGAGCCGCATCCCGCTC 0.607000 T RARA APL OREG0021187 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 223 0 0 1 0 0 GFRA1 2674 broad.mit.edu 37 10 118030528 118030528 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr10:118030528C>T ENST00000439649.3 - 3 507 c.140G>A c.(139-141)cGc>cAc p.R47H GFRA1_ENST00000355422.6_Missense_Mutation_p.R47H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R47H NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 47 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) CCTTAGCGTGCGGTACTTGGT 0.637000 7 276 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414349 20414349 + Silent SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr9:20414349G>A ENST00000380338.4 - 5 781 c.495C>T c.(493-495)agC>agT p.S165S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S162S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 165 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctactgctgctgctgctgc 0.532000 T MLL ALL 5 262 0 0 1 0 0 SCARA5 286133 broad.mit.edu 37 8 27737142 27737142 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr8:27737142C>T ENST00000354914.3 - 8 1780 c.1295G>A c.(1294-1296)cGc>cAc p.R432H SCARA5_ENST00000380385.2_Missense_Mutation_p.R207H NM_173833.5 NP_776194.2 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) 432 SRCR. cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) GCCGAGCATGCGGCACACCAC 0.642000 5 276 0 0 1 0 0 TMEM87A 25963 broad.mit.edu 37 15 42520944 42520944 + Silent SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr15:42520944C>T ENST00000389834.4 - 13 1470 c.1206G>A c.(1204-1206)cgG>cgA p.R402R TMEM87A_ENST00000448392.1_Silent_p.R341R NM_015497.3 NP_056312.2 Q8NBN3 TM87A_HUMAN transmembrane protein 87A 402 integral to membrane breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) TGGTGAAATGCCGATACAAAG 0.383000 5 455 0 0 1 0 0 INSC 387755 broad.mit.edu 37 11 15212347 15212347 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr11:15212347G>A ENST00000379554.3 + 6 867 c.821G>A c.(820-822)cGc>cAc p.R274H INSC_ENST00000424273.1_Missense_Mutation_p.R227H|INSC_ENST00000528567.1_Missense_Mutation_p.R227H|INSC_ENST00000530161.1_Missense_Mutation_p.R227H|INSC_ENST00000379556.3_Missense_Mutation_p.R227H|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.R227H NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 274 cell differentiation|nervous system development cytoplasm binding p.R274H(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 CCCTTGTGCCGCATCATAGCC 0.532000 5 420 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102293008 102293008 + RNA SNP A A G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr15:102293008A>G ENST00000561463.1 + 0 1054 p.K171E(1) GCGTGGGAACAAGAAGACACT 0.582000 4 69 0 0 1 0 0 PCDHB3 0 broad.mit.edu 37 5 140482147 140482147 + Missense_Mutation SNP C C G rs144773246 byFrequency TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr5:140482147C>G ENST00000231130.2 + 1 1914 c.1914C>G c.(1912-1914)caC>caG p.H638Q NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 638 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.H638Q(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCCAAGCACAGGCTGGTGG 0.697000 5 411 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172096148 172096148 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr3:172096148G>A ENST00000336824.4 + 24 3196 c.3097G>A c.(3097-3099)Gca>Aca p.A1033T FNDC3B_ENST00000415807.2_Missense_Mutation_p.A1033T|FNDC3B_ENST00000416957.1_Missense_Mutation_p.A1033T NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1033 Fibronectin type-III 8. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) AATCCAGGCAGCAAGCGAGGC 0.483000 4 221 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234238171 234238171 + Silent SNP C C A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr2:234238171C>A ENST00000409110.1 + 9 911 c.681C>A c.(679-681)acC>acA p.T227T SAG_ENST00000449594.2_Silent_p.T93T NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 227 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TCCCTGTGACCGTGACTGTCA 0.438000 4 144 0.00909568 0.00944891 1 1 0 MTOR 2475 broad.mit.edu 37 1 11217239 11217239 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:11217239C>T ENST00000361445.4 - 30 4515 c.4439G>A c.(4438-4440)cGc>cAc p.R1480H NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1480 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GCAGCGCATGCGGCCCAGCAT 0.532000 5 416 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941316 22941316 + Missense_Mutation SNP A A C TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr19:22941316A>C ENST00000397104.3 - 5 1121 c.1122T>G c.(1120-1122)ttT>ttG p.F374L ZNF99_ENST00000596209.1_Missense_Mutation_p.F465L zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TAAGGGCTGAAAAATTGCTAA 0.358000 4 275 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52899813 52899813 + Missense_Mutation SNP T T C TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr18:52899813T>C ENST00000354452.3 - 17 2187 c.1576A>G c.(1576-1578)Acg>Gcg p.T526A TCF4_ENST00000540999.1_Missense_Mutation_p.T502A|TCF4_ENST00000561992.1_Missense_Mutation_p.T396A|TCF4_ENST00000564403.2_Missense_Mutation_p.T532A|TCF4_ENST00000544241.2_Missense_Mutation_p.T455A|TCF4_ENST00000568673.1_Missense_Mutation_p.T502A|TCF4_ENST00000566286.1_Missense_Mutation_p.T523A|TCF4_ENST00000570177.2_Missense_Mutation_p.T396A|TCF4_ENST00000567880.1_Missense_Mutation_p.T466A|TCF4_ENST00000398339.1_Missense_Mutation_p.T628A|TCF4_ENST00000565018.2_Missense_Mutation_p.T526A|TCF4_ENST00000568740.1_Missense_Mutation_p.T501A|TCF4_ENST00000537856.3_Missense_Mutation_p.T396A|TCF4_ENST00000564999.1_Missense_Mutation_p.T526A|TCF4_ENST00000537578.1_Missense_Mutation_p.T502A|TCF4_ENST00000566279.1_Missense_Mutation_p.T466A|TCF4_ENST00000570287.2_Missense_Mutation_p.T366A|TCF4_ENST00000564228.1_Missense_Mutation_p.T455A|TCF4_ENST00000457482.3_Missense_Mutation_p.T366A|TCF4_ENST00000356073.4_Missense_Mutation_p.T526A|TCF4_ENST00000561831.3_Missense_Mutation_p.T366A|TCF4_ENST00000543082.1_Missense_Mutation_p.T484A NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 526 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GAAGATTTCGTGTCTTGCAGG 0.453000 113 146 0 0 1 0 0 UGT8 7368 broad.mit.edu 37 4 115597336 115597336 + Silent SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr4:115597336G>A ENST00000310836.6 + 6 2040 c.1518G>A c.(1516-1518)ctG>ctA p.L506L UGT8_ENST00000394511.3_Silent_p.L506L NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 506 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) TCAAAAGTCTGTGGTCTAGAA 0.353000 64 302 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909404 123909404 + Missense_Mutation SNP A A G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr11:123909404A>G ENST00000330487.5 - 1 313 c.305T>C c.(304-306)tTt>tCt p.F102S NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GAAGTGGAAAAAATAGAGCTG 0.532000 63 575 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596116 58596116 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr19:58596116G>A ENST00000240727.6 - 7 1868 c.1469C>T c.(1468-1470)gCg>gTg p.A490V ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A546V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A354V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A490V NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 490 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGGACCGCCCGCCCTAGCCCC 0.741000 14 21 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212209262 212209262 + Silent SNP C C G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:212209262C>G ENST00000366991.4 + 1 344 c.30C>G c.(28-30)ccC>ccG p.P10P DTL_ENST00000542077.1_Silent_p.P10P|DTL_ENST00000475419.1_3'UTR NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 10 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) TCCGCCAGCCCCAGCTTGGCG 0.572000 38 97 0 0 1 0 0 INHBB 3625 broad.mit.edu 37 2 121106818 121106818 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr2:121106818C>T ENST00000295228.3 + 2 638 c.592C>T c.(592-594)Cgg>Tgg p.R198W NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 198 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GCGGAAGGTGCGGGTCAAAGT 0.602000 5 274 0 0 1 0 0 ASB8 0 broad.mit.edu 37 12 48543613 48543613 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr12:48543613G>A ENST00000317697.3 - 4 572 c.403C>T c.(403-405)Cgg>Tgg p.R135W ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R135W NM_024095.3 NP_077000.1 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box containing 8 135 intracellular signal transduction cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1) 11 AGGAGAGCCCGCACACACTCA 0.527000 4 196 0 0 1 0 0 GRHL3 57822 broad.mit.edu 37 1 24669202 24669202 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:24669202C>T ENST00000361548.4 + 10 1455 c.1225C>T c.(1225-1227)Cgc>Tgc p.R409C GRHL3_ENST00000342072.4_Missense_Mutation_p.R316C|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363C|GRHL3_ENST00000350501.5_Missense_Mutation_p.R409C|GRHL3_ENST00000236255.4_Missense_Mutation_p.R414C NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 409 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GAGGAAGATGCGCGATGACGA 0.602000 5 305 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr7:72664015C>G ENST00000425256.1 - 0 885 NR_002164.1 ATACCACCCCCGGGGCATGCC 0.507000 5 78 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 76 221 0 0 1 0 0 HLA-V 0 broad.mit.edu 37 6 29761771 29761771 + RNA SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr6:29761771C>T ENST00000457107.1 + 0 997 acatcctcagcaggattggtg 0.542000 3 39 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58915077 58915077 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr14:58915077C>T ENST00000423743.3 + 8 953 c.695C>T c.(694-696)gCa>gTa p.A232V KIAA0586_ENST00000556134.1_Missense_Mutation_p.A261V|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.A276V|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A329V NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 276 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ATTAGTGCTGCACTCAAGACT 0.328000 70 105 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52360796 52360796 + Nonsense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr5:52360796C>T ENST00000296585.5 + 14 1800 c.1657C>T c.(1657-1659)Cga>Tga p.R553* NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 553 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TGAAAACACTCGATTTGGTTC 0.423000 135 401 0 0 1 0 0 RP11-934B9.3 0 broad.mit.edu 37 14 24802075 24802075 + Missense_Mutation SNP G G A rs149539471 TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr14:24802075G>A ENST00000555591.1 - 3 477 c.478C>T c.(478-480)Cgg>Tgg p.R160W ADCY4_ENST00000418030.2_Silent_p.S93S|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000554068.2_Silent_p.S93S|ADCY4_ENST00000310677.4_Silent_p.S93S|ADCY4_ENST00000396747.3_5'UTR ATACCAAGCCGGACAGGGGAC 0.716000 OREG0022624 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 45 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372375 126372375 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr4:126372375C>T ENST00000394329.3 + 9 10217 c.10204C>T c.(10204-10206)Ccc>Tcc p.P3402S FAT4_ENST00000335110.5_Missense_Mutation_p.P1700S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3402 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAATGACCCACCCATTTTTAC 0.458000 12 616 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1064314 1064314 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr5:1064314C>T ENST00000264930.5 - 19 2534 c.2491G>A c.(2491-2493)Gtc>Atc p.V831I NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 831 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) AACGAGTCGACGTTCTTGGCC 0.677000 41 111 0 0 1 0 0 ODF2 4957 broad.mit.edu 37 9 131245096 131245096 + Splice_Site SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr9:131245096G>A ENST00000303890.5 + 12 1430 c.843_splice c.e12-1 p.R282_splice ODF2_ENST00000448249.3_Splice_Site_p.R225_splice|ODF2_ENST00000434106.2_Splice_Site_p.R306_splice|ODF2_ENST00000393533.2_Splice_Site_p.R306_splice|ODF2_ENST00000444119.2_Splice_Site_p.R282_splice|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000351030.3_Splice_Site_p.R301_splice|ODF2_ENST00000372814.3_Splice_Site_p.R350_splice|ODF2_ENST00000372796.4_Splice_Site_p.R306_splice|ODF2_ENST00000546203.1_Splice_Site_p.R287_splice|ODF2_ENST00000372807.5_Splice_Site_p.R301_splice|ODF2_ENST00000372791.3_Splice_Site_p.R287_splice NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 306 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 CTCTCCCAGCGCCTGCTGTTA 0.522000 4 172 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37326748 37326748 + Silent SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr22:37326748G>A ENST00000262825.5 + 8 1123 c.906G>A c.(904-906)ggG>ggA p.G302G CSF2RB_ENST00000403662.3_Silent_p.G296G|CSF2RB_ENST00000536485.1_Silent_p.G243G|CSF2RB_ENST00000406230.1_Silent_p.G302G NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 296 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) TGAGGGAGGGGCTCGGCAGCC 0.657000 43 127 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 8 228 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938955 76938955 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chrX:76938955G>A ENST00000373344.5 - 9 2007 c.1793C>T c.(1792-1794)tCc>tTc p.S598F ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S560F NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 598 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTTAATTGGGGAATTAGAAAG 0.358000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 493 1378 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71005968 71005968 + Missense_Mutation SNP C C T rs148723879 TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr10:71005968C>T ENST00000354624.5 + 8 1142 c.1009C>T c.(1009-1011)Cgg>Tgg p.R337W HKDC1_ENST00000395086.2_Missense_Mutation_p.R337W NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 337 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GATCGAAACACGGCACGTGGC 0.572000 73 196 0 0 1 0 0 HABP4 22927 broad.mit.edu 37 9 99227683 99227683 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr9:99227683C>T ENST00000375249.4 + 3 652 c.577C>T c.(577-579)Cgc>Tgc p.R193C HABP4_ENST00000375251.3_Intron NM_014282.2 NP_055097.2 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 193 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) AGGGGGTATGCGCGGCAGAGG 0.483000 6 439 0 0 1 0 0 KDM4C 23081 broad.mit.edu 37 9 6990510 6990510 + Missense_Mutation SNP C C T rs151291155 byFrequency TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr9:6990510C>T ENST00000381309.3 + 12 2337 c.1772C>T c.(1771-1773)gCg>gTg p.A591V KDM4C_ENST00000381306.3_Missense_Mutation_p.A591V|KDM4C_ENST00000543771.1_Missense_Mutation_p.A591V|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Missense_Mutation_p.A613V|KDM4C_ENST00000428870.2_Missense_Mutation_p.A278V|KDM4C_ENST00000536108.1_Missense_Mutation_p.A410V NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 591 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 AAGCAGCAGGCGCCAAGTGAT 0.408000 43 73 0 0 1 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110032901 110032901 + Silent SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:110032901C>T ENST00000369870.3 + 9 1260 c.1245C>T c.(1243-1245)acC>acT p.T415T NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 415 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) AGTTCTGCACCTTTGGGAGCC 0.597000 OREG0013635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 282 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98762035 98762035 + Missense_Mutation SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr10:98762035C>T ENST00000266058.4 - 36 4491 c.4246G>A c.(4246-4248)Ggg>Agg p.G1416R ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Intron NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1416 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GCCAGGGCCCCGGCCTGGTTG 0.662000 16 45 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110172900 110172900 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:110172900G>A ENST00000256578.3 + 16 2551 c.2191G>A c.(2191-2193)Gcc>Acc p.A731T AMPD2_ENST00000358729.4_Missense_Mutation_p.A656T|AMPD2_ENST00000528667.1_Missense_Mutation_p.A731T|AMPD2_ENST00000528454.1_Missense_Mutation_p.A613T|AMPD2_ENST00000342115.4_Missense_Mutation_p.A650T|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.A612T NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 731 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) GATCGGCATCGCCATGTCTCC 0.652000 6 385 0 0 1 0 0 ZNF548 147694 broad.mit.edu 37 19 57910947 57910947 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr19:57910947G>A ENST00000366197.5 + 3 1542 c.1292G>A c.(1291-1293)cGt>cAt p.R431H AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R443H|AC004076.7_ENST00000597410.1_Intron NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 431 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAATTCTTTCGTTACAACTCC 0.463000 7 319 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52536564 52536564 + Silent SNP C C T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr15:52536564C>T ENST00000261839.7 - 19 2540 c.2379G>A c.(2377-2379)caG>caA p.Q793Q MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 793 IQ 2. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TCACAGTTTGCTGACCCCGGA 0.527000 5 367 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202589136 202589136 + Missense_Mutation SNP G G A rs149670991 by1000genomes TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr2:202589136G>A ENST00000264276.6 - 21 3766 c.3394C>T c.(3394-3396)Cgt>Tgt p.R1132C ALS2_ENST00000457679.2_Missense_Mutation_p.R444C NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 1132 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TGACCATGACGCATATTATCT 0.413000 6 535 0 0 1 0 0 ACPT 93650 broad.mit.edu 37 19 51298323 51298323 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr19:51298323G>A ENST00000270593.1 + 11 1189 c.1189G>A c.(1189-1191)Gga>Aga p.G397R ACPT_ENST00000270594.3_Missense_Mutation_p.G304R NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 397 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCTGCTGGCCGGAGCTGTAGC 0.677000 9 32 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110839601 110839601 + Missense_Mutation SNP G G A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr13:110839601G>A ENST00000375820.4 - 25 1733 c.1612C>T c.(1612-1614)Cgg>Tgg p.R538W NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 538 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTTTGAGCCGCAAGTCGAAA 0.582000 6 282 0 0 1 0 0 MROH6 642475 broad.mit.edu 37 8 144654809 144654809 + Nonsense_Mutation SNP C C A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr8:144654809C>A ENST00000398882.3 - 1 332 c.76G>T c.(76-78)Gaa>Taa p.E26* NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 CGGATTCCTTCAGTCAGTGCT 0.706000 3 28 0.115264 0.11746 1 1 0 FBXO2 26232 broad.mit.edu 37 1 11710779 11710780 + In_Frame_Ins INS - - GCG rs148874459 by1000genomes TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:11710779_11710780insGCG ENST00000354287.4 - 2 475_476 c.134_135insCGC c.(133-135)gta>gCGCta p.45_45V>AL NM_012168.5 NP_036300.2 Q9UK22 FBX2_HUMAN F-box protein 2 45 F-box. Missing (in Ref. 1; AAF01822). glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex sugar binding|ubiquitin-protein ligase activity kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(185;0.249) Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) CGTCCAGGTACGCGGCGGCGGc 0.757 5 1 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210446 143210446 + RNA DEL T T - TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:143210446delT ENST00000412204.2 - 0 624 RP11-782C8.1_ENST00000438000.1_lincRNA GTCCATATACTAAAAAGGTTA 0.284 7 81 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 12 93 --- --- --- --- AMMECR1L 83607 broad.mit.edu 37 2 128627077 128627077 + Frame_Shift_Del DEL T T - TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr2:128627077delT ENST00000272647.5 - 6 935 c.675delA c.(673-675)aafs p.K225fs AMMECR1L_ENST00000393001.1_Frame_Shift_Del_p.K225fs NM_001199140.1 NP_001186069.1 Q6DCA0 AMERL_HUMAN AMMECR1-like 225 AMMECR1. central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 9 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.07) GTTTGACACCTTTTTCATTAA 0.388 7 366 --- --- --- --- SEPP1 6414 broad.mit.edu 37 5 42800957 42800959 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr5:42800957_42800959delCTC ENST00000514985.1 - 5 1265_1267 c.1009_1011delGAG c.(1009-1011)del p.E337del SEPP1_ENST00000506577.1_In_Frame_Del_p.E337del|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000511224.1_In_Frame_Del_p.E337del|SEPP1_ENST00000507920.1_3'UTR NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 337 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 CAGTTATGTTCTCCTCTGCCCGA 0.458 92 187 --- --- --- --- TIGD6 81789 broad.mit.edu 37 5 149375600 149375600 + Frame_Shift_Del DEL T T - TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr5:149375600delT ENST00000296736.3 - 2 1086 c.312delA c.(310-312)aafs p.K104fs TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs NM_030953.3 NP_112215.1 Q17RP2 TIGD6_HUMAN tigger transposable element derived 6 104 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGTTTAGTGCTTTTTTCCGAA 0.423 8 1358 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521545 32521546 + RNA INS - - AAGG rs144810212 by1000genomes TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr6:32521545_32521546insAAGG ENST00000411500.1 - 0 851 NR_001298.1 TTGGGGAAAGACTTTATCCAGG 0.436 12 18 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 7 393 --- --- --- --- AARS2 57505 broad.mit.edu 37 6 44269188 44269189 + Frame_Shift_Ins INS - - T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr6:44269188_44269189insT ENST00000244571.4 - 20 2613_2614 c.2611_2612insA c.(2611-2613)tcafs p.S871fs TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 871 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CAGCTCCTGAGTTTTCTTTGCA 0.584 7 566 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332873 123332875 + In_Frame_Del DEL GGA GGA - TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr7:123332873_123332875delGGA ENST00000223023.4 - 9 1205_1207 c.873_875delTCC c.(871-876)ccc>cc p.PP293del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 293 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 gtgtggagggggaggaggaggag 0.567 9 326 --- --- --- --- EBAG9 9166 broad.mit.edu 37 8 110573115 110573117 + In_Frame_Del DEL GAA GAA - TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr8:110573115_110573117delGAA ENST00000337573.5 + 6 778_780 c.478_480delGAA c.(478-480)del p.E163del EBAG9_ENST00000531677.1_In_Frame_Del_p.E163del|EBAG9_ENST00000395785.2_In_Frame_Del_p.E163del NM_004215.3 NP_004206.1 O00559 RCAS1_HUMAN estrogen receptor binding site associated, antigen, 9 163 Poly-Glu. apoptosis|regulation of cell growth focal adhesion|Golgi membrane|integral to membrane|soluble fraction apoptotic protease activator activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2) 10 OV - Ovarian serous cystadenocarcinoma(57;1.39e-14) CAATGCATGGGAAGAAGAAGAAG 0.394 7 227 --- --- --- --- RPLP0P2 0 broad.mit.edu 37 11 61405017 61405019 + RNA DEL CTG CTG - TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr11:61405017_61405019delCTG ENST00000496593.1 + 0 1621_1623 NR_002775.2 acagctgctcctgctgctgctgc 0.557 7 209 --- --- --- --- INF2 64423 broad.mit.edu 37 14 105180688 105180689 + Frame_Shift_Ins INS - - T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr14:105180688_105180689insT ENST00000392634.4 + 21 3301_3302 c.3189_3190insT c.(3187-3192)catggafs p.G1064fs INF2_ENST00000330634.7_Frame_Shift_Ins_p.G1064fs NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 1064 actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CCCTGGAGCAGTTGGAGGAGGG 0.663 11 34 --- --- --- --- RNF43 54894 broad.mit.edu 37 17 56437602 56437603 + Frame_Shift_Ins INS - - C TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr17:56437602_56437603insC ENST00000584437.1 - 7 2814_2815 c.859_860insG c.(859-861)catfs p.H287fs RNF43_ENST00000500597.2_Frame_Shift_Ins_p.H246fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.H160fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.H246fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.H287fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.H160fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.H287fs Q68DV7 RNF43_HUMAN ring finger protein 43 287 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCAGGAAATGACCCGTAGCTCC 0.535 78 131 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 8 68 --- --- --- --- MBD1 4152 broad.mit.edu 37 18 47797907 47797914 + Splice_Site DEL GGACCTAG GGACCTAG - TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr18:47797907_47797914delGGACCTAG ENST00000591416.1 - 16 2210_2213 c.1778_splice c.e16-1 p.593_splice MBD1_ENST00000585672.1_Intron|MBD1_ENST00000585595.1_Splice_Site_p.618_splice|MBD1_ENST00000457839.2_Splice_Site_p.618_splice|MBD1_ENST00000436910.1_Splice_Site_p.524_splice|MBD1_ENST00000424334.2_Splice_Site_p.644_splice|MBD1_ENST00000398488.1_Splice_Site_p.491_splice|MBD1_ENST00000398493.1_Splice_Site_p.537_splice|MBD1_ENST00000347968.3_Splice_Site_p.537_splice|MBD1_ENST00000382948.5_Splice_Site_p.593_splice|MBD1_ENST00000353909.3_Splice_Site_p.544_splice|MBD1_ENST00000349085.2_Splice_Site_p.491_splice|MBD1_ENST00000591535.1_Splice_Site_p.524_splice|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000269468.5_Splice_Site_p.593_splice|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000398495.2_Splice_Site_p.554_splice|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000587605.1_Intron Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 593 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 TAAGGTCTTTGGACCTAGGGAAAAGGGA 0.442 152 380 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48586256 48586262 + Frame_Shift_Del DEL GCATTCC GCATTCC - TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr18:48586256_48586262delGCATTCC ENST00000342988.3 + 8 1463_1469 c.925_931delGCATTCC c.(925-933)agfs p.AFQ309fs SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.AFQ309fs NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 309 SAD. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(3)|p.Q311*(2)|p.F310L(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CAATGAGCTTGCATTCCAGCCTCCCAT 0.329 62 182 --- --- --- --- KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - rs111751275 TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr19:8398950_8398961delTCGCTGTCGCCA ENST00000330915.3 - 5 1532_1543 c.1467_1478delTGGCGACAGCGA c.(1465-1479)gag>ga p.DGDSE489del KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 489 p.D489_S492delDGDS(2) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC 0.717 5 7 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 10 471 --- --- --- --- ZNF112 7665 broad.mit.edu 37 19 44832430 44832430 + Frame_Shift_Del DEL C C - TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr19:44832430delC ENST00000354340.4 - 4 1931 c.1880delG c.(1879-1881)gafs p.G627fs ZNF112_ENST00000337401.4_Frame_Shift_Del_p.G633fs|ZNF112_ENST00000536500.1_Frame_Shift_Del_p.G650fs NM_013380.3 NP_037512.3 zinc finger protein 112 TGGTTTTTCTCCAGTGTGGAC 0.453 7 951 --- --- --- --- DSTN 11034 broad.mit.edu 37 20 17581488 17581489 + Frame_Shift_Ins INS - - T TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr20:17581488_17581489insT ENST00000246069.6 + 2 455_456 c.109_110insT c.(109-111)tttfs p.F37fs DSTN_ENST00000543261.1_Frame_Shift_Ins_p.F20fs|DSTN_ENST00000474024.1_3'UTR NM_006870.3 NP_006861.1 P60981 DEST_HUMAN destrin (actin depolymerizing factor) 37 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding endometrium(1)|large_intestine(5)|lung(8)|skin(1) 15 GAAGGCTGTCATTTTTTGTCTC 0.386 14 368 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c613c8d-8ef7-44da-8a5f-ed1ec5652f85 15447e58-6c71-422c-ae2a-31be9bc175d5 g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 9 1471 --- --- --- ---