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 TMEM56 148534 broad.mit.edu 37 1 95616924 95616924 + Missense_Mutation SNP A A T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr1:95616924A>T ENST00000370203.4 + 5 639 c.348A>T c.(346-348)aaA>aaT p.K116N RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.K116N NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 116 TLC. integral to membrane p.K116N(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) TTGGTGACAAATTTTTTATAA 0.348 7 188 --- --- --- --- OR6N1 128372 broad.mit.edu 37 1 158736387 158736387 + Missense_Mutation SNP A A T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr1:158736387A>T ENST00000335094.2 - 1 105 c.86T>A c.(85-87)cTc>cAc p.L29H NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L29H(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) AAGCAACAAGAGGAAGAGATA 0.502 4 88 --- --- --- --- AIM2 9447 broad.mit.edu 37 1 159038445 159038445 + Missense_Mutation SNP T T G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr1:159038445T>G ENST00000368130.4 - 3 597 c.309A>C c.(307-309)caA>caC p.Q103H AIM2_ENST00000411768.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 103 cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus p.Q103H(1) breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) TCATTTCAGCTTGACTTAGTG 0.408 7 266 --- --- --- --- DTL 51514 broad.mit.edu 37 1 212274088 212274088 + Silent SNP T T C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr1:212274088T>C ENST00000366991.4 + 14 2070 c.1756T>C c.(1756-1758)Ttg>Ctg p.L586L DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.L544L NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 586 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 p.L586L(1) 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) AAATCTTCATTTGGATCTGTG 0.453 16 169 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29296170 29296170 + Missense_Mutation SNP G G A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr2:29296170G>A ENST00000331664.5 - 1 957 c.958C>T c.(958-960)Cgc>Tgc p.R320C NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 320 R -> C. response to stimulus|visual perception photoreceptor outer segment p.R320C(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CTCAGGAGGCGTTCATCCACA 0.597 38 246 --- --- --- --- MYL1 4632 broad.mit.edu 37 2 211179711 211179711 + Missense_Mutation SNP G G A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr2:211179711G>A ENST00000352451.3 - 1 203 c.56C>T c.(55-57)gCc>gTc p.A19V NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast 19 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle p.A19V(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) cggtgccggggctggggcAGC 0.502 8 91 --- --- --- --- CASR 846 broad.mit.edu 37 3 122003254 122003254 + Missense_Mutation SNP G G T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr3:122003254G>T ENST00000498619.1 + 7 2921 c.2483G>T c.(2482-2484)tGg>tTg p.W828L CASR_ENST00000490131.1_Missense_Mutation_p.W818L|CASR_ENST00000296154.5_Missense_Mutation_p.W818L NM_001178065.1 NP_001171536 P41180 CASR_HUMAN calcium-sensing receptor 818 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.W818L(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TTCATCGTCTGGATCTCCTTC 0.527 4 156 --- --- --- --- HTT 3064 broad.mit.edu 37 4 3148562 3148562 + Missense_Mutation SNP G G A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr4:3148562G>A ENST00000355072.5 + 25 3327 c.3182G>A c.(3181-3183)aGc>aAc p.S1061N NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 1061 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding p.S1061N(1) breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TCTAGGAAGAGCTGTACCGTT 0.468 14 637 --- --- --- --- KLHL5 51088 broad.mit.edu 37 4 39064620 39064620 + Missense_Mutation SNP T T G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr4:39064620T>G ENST00000261425.3 + 2 500 c.348T>G c.(346-348)agT>agG p.S116R KLHL5_ENST00000381930.3_Missense_Mutation_p.S162R|KLHL5_ENST00000359687.2_Missense_Mutation_p.S162R|KLHL5_ENST00000504108.1_Missense_Mutation_p.S162R|KLHL5_ENST00000261426.5_Missense_Mutation_p.S162R|KLHL5_ENST00000508137.2_Intron NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 162 cytoplasm|cytoskeleton actin binding p.S162R(1) endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 ATGGCACTAGTGAAGAAGAAA 0.418 6 168 --- --- --- --- LYSMD3 116068 broad.mit.edu 37 5 89815106 89815106 + Missense_Mutation SNP G G C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr5:89815106G>C ENST00000315948.6 - 3 595 c.451C>G c.(451-453)Ctt>Gtt p.L151V LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron NM_198273.1 NP_938014.1 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain containing 3 151 cell wall macromolecule catabolic process integral to membrane p.L151V(1) breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 7 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) CTGTAAGCAAGAGAATCATTA 0.393 4 197 --- --- --- --- PCDHA10 56139 broad.mit.edu 37 5 140237082 140237082 + Silent SNP G G A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr5:140237082G>A ENST00000307360.5 + 1 1449 c.1449G>A c.(1447-1449)gcG>gcA p.A483A PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A483A|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018901.2 NP_061724.1 p.A483A(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCGGACGCGCAGGAGAACG 0.662 6 210 --- --- --- --- PCDHGA2 56113 broad.mit.edu 37 5 140720422 140720422 + Silent SNP G G A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr5:140720422G>A ENST00000394576.2 + 1 1884 c.1884G>A c.(1882-1884)acG>acA p.T628T PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.T628T(2) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGCGCACGGCGCGAGCCC 0.682 14 154 --- --- --- --- PCDHGA10 56106 broad.mit.edu 37 5 140794395 140794395 + Silent SNP G G A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr5:140794395G>A ENST00000398610.2 + 1 1653 c.1653G>A c.(1651-1653)tcG>tcA p.S551S PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 p.S551S(1) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAACGTGTCGTTGAGCCTGT 0.597 10 329 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150928993 150928993 + Missense_Mutation SNP T T C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr5:150928993T>C ENST00000261800.5 - 8 4664 c.4652A>G c.(4651-4653)cAc>cGc p.H1551R NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1551 Cadherin 13. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.H1551R(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCGGGGTGGGTGGAGGTTTCC 0.567 7 94 --- --- --- --- EYS 346007 broad.mit.edu 37 6 66205045 66205045 + Missense_Mutation SNP T T C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr6:66205045T>C ENST00000503581.1 - 4 796 c.259A>G c.(259-261)Atc>Gtc p.I87V EYS_ENST00000370618.3_Missense_Mutation_p.I87V|EYS_ENST00000342421.5_Missense_Mutation_p.I87V|EYS_ENST00000393380.2_Missense_Mutation_p.I87V|EYS_ENST00000370616.2_Missense_Mutation_p.I87V|EYS_ENST00000370621.3_Missense_Mutation_p.I87V NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 87 response to stimulus|visual perception extracellular region calcium ion binding p.I87V(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 ATTACAAGGATATCTCCTAAT 0.363 7 228 --- --- --- --- MEOX2 4223 broad.mit.edu 37 7 15725595 15725595 + Missense_Mutation SNP C C T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr7:15725595C>T ENST00000262041.5 - 1 842 c.433G>A c.(433-435)Gcg>Acg p.A145T NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 145 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A145T(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TCCCCCGGCGCGCACGCGGCC 0.711 5 219 --- --- --- --- HECW1 23072 broad.mit.edu 37 7 43484982 43484982 + Silent SNP C C T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr7:43484982C>T ENST00000395891.2 + 11 2816 c.2211C>T c.(2209-2211)gaC>gaT p.D737D HECW1_ENST00000453890.1_Silent_p.D737D NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.D737D(2)|p.D716D(1) NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CCTCGCAAGACGACGAGGAGG 0.652 76 122 --- --- --- --- KIAA1549 57670 broad.mit.edu 37 7 138603105 138603105 + Missense_Mutation SNP C C G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr7:138603105C>G ENST00000440172.1 - 2 1315 c.1267G>C c.(1267-1269)Gcc>Ccc p.A423P KIAA1549_ENST00000422774.1_Missense_Mutation_p.A423P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A373P NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 423 integral to membrane p.A423P(1)|p.A373P(1) KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 ACAGTGCAGGCCGCACACCAA 0.562 O BRAF pilocytic astrocytoma 57 80 --- --- --- --- OR2A5 393046 broad.mit.edu 37 7 143747902 143747902 + Missense_Mutation SNP G G A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr7:143747902G>A ENST00000408906.2 + 1 442 c.408G>A c.(406-408)atG>atA p.M136I NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M136I(1) cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) CTGTCATCATGAGATGGGGAG 0.512 7 441 --- --- --- --- ZNF783 100289678 broad.mit.edu 37 7 148979201 148979201 + Missense_Mutation SNP T T A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr7:148979201T>A ENST00000434415.1 + 6 1571 c.1408T>A c.(1408-1410)Tac>Aac p.Y470N ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 470 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.Y470N(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) CGCCTGCCCCTACTGCGGCAA 0.706 7 41 --- --- --- --- KCNB2 9312 broad.mit.edu 37 8 73480433 73480433 + Missense_Mutation SNP A A T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr8:73480433A>T ENST00000523207.1 + 2 1052 c.464A>T c.(463-465)gAg>gTg p.E155V NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 155 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.E155V(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTGAGGCGAGAGGCAGAGACT 0.453 9 185 --- --- --- --- GDF6 392255 broad.mit.edu 37 8 97156855 97156855 + Missense_Mutation SNP G G A rs140782427 TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr8:97156855G>A ENST00000287020.5 - 2 1403 c.1304C>T c.(1303-1305)gCg>gTg p.A435V NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 435 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity p.A435V(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) ATTATTGCCCGCGTCGATGTA 0.602 7 56 --- --- --- --- CCDC171 203238 broad.mit.edu 37 9 15744747 15744747 + Silent SNP A A G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr9:15744747A>G ENST00000380701.3 + 17 2854 c.2526A>G c.(2524-2526)ggA>ggG p.G842G CCDC171_ENST00000297641.3_Silent_p.G842G NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 842 p.G842G(1)|p.G109G(1) TGTGCACAGGAGAGCCCCAAG 0.398 34 57 --- --- --- --- IFNA10 3446 broad.mit.edu 37 9 21206631 21206631 + Missense_Mutation SNP C C G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr9:21206631C>G ENST00000357374.2 - 1 511 c.466G>C c.(466-468)Gag>Cag p.E156Q NM_002171.1 NP_002162.1 P01566 IFN10_HUMAN interferon, alpha 10 156 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding p.E156Q(1) endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) TATTTCCTCTCTATTAGATAA 0.448 8 723 --- --- --- --- KIAA1045 23349 broad.mit.edu 37 9 34971518 34971518 + Missense_Mutation SNP G G A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr9:34971518G>A ENST00000242315.3 + 2 305 c.223G>A c.(223-225)Ggc>Agc p.G75S KIAA1045_ENST00000544237.1_Missense_Mutation_p.G75S|KIAA1045_ENST00000476115.2_Intron NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 75 calcium ion binding p.G75S(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) GAGTAGTGCCGGCCGCGCAGC 0.652 67 103 --- --- --- --- GFI1B 8328 broad.mit.edu 37 9 135866396 135866396 + Missense_Mutation SNP G G A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr9:135866396G>A ENST00000339463.3 + 11 1771 c.952G>A c.(952-954)Gac>Aac p.D318N GFI1B_ENST00000372124.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372123.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372122.1_Missense_Mutation_p.D318N|GFI1B_ENST00000450530.1_Missense_Mutation_p.D318N|GFI1B_ENST00000534944.1_Missense_Mutation_p.D272N Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 318 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding p.D318N(2) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) GCGCAAGGTGGACCTGCGGCG 0.652 35 128 --- --- --- --- CHAT 1103 broad.mit.edu 37 10 50835688 50835688 + Missense_Mutation SNP G G A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr10:50835688G>A ENST00000395562.2 + 8 1191 c.722G>A c.(721-723)cGt>cAt p.R241H CHAT_ENST00000455728.2_Missense_Mutation_p.R205H|CHAT_ENST00000351556.3_Missense_Mutation_p.R205H|CHAT_ENST00000395559.2_Missense_Mutation_p.R205H|CHAT_ENST00000337653.2_Missense_Mutation_p.R323H|CHAT_ENST00000339797.1_Missense_Mutation_p.R205H NM_001142933.1|NM_001142934.1 NP_001136405|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 323 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity p.R323H(2) central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) AATTTCCGCCGTCTCAGTGAG 0.512 10 380 --- --- --- --- SORBS1 10580 broad.mit.edu 37 10 97192294 97192294 + Missense_Mutation SNP A A T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr10:97192294A>T ENST00000371247.2 - 6 401 c.212T>A c.(211-213)gTg>gAg p.V71E SORBS1_ENST00000371249.2_Missense_Mutation_p.V39E|SORBS1_ENST00000361941.3_Missense_Mutation_p.V71E|SORBS1_ENST00000353505.5_Missense_Mutation_p.V71E|SORBS1_ENST00000371241.1_Missense_Mutation_p.V39E|SORBS1_ENST00000371239.1_Missense_Mutation_p.V39E|SORBS1_ENST00000306402.6_Missense_Mutation_p.V71E|SORBS1_ENST00000277982.5_Missense_Mutation_p.V71E|SORBS1_ENST00000393949.1_Missense_Mutation_p.V71E|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371246.2_Missense_Mutation_p.V71E|SORBS1_ENST00000347291.4_Missense_Mutation_p.V71E|SORBS1_ENST00000371245.3_Missense_Mutation_p.V71E|SORBS1_ENST00000371227.4_Missense_Mutation_p.V71E|SORBS1_ENST00000607232.1_Missense_Mutation_p.V39E|SORBS1_ENST00000354106.3_Missense_Mutation_p.V71E Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 71 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity p.V71E(2) NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CCGGAGAGTCACCGCTCCCTT 0.517 4 128 --- --- --- --- COL17A1 1308 broad.mit.edu 37 10 105798243 105798243 + Silent SNP G G A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr10:105798243G>A ENST00000353479.5 - 45 3281 c.2991C>T c.(2989-2991)ccC>ccT p.P997P COL17A1_ENST00000369733.3_Silent_p.P952P NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 997 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding p.P997P(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGGCCCAGGGGGCCCTGGCG 0.602 15 340 --- --- --- --- SORCS3 22986 broad.mit.edu 37 10 106959827 106959827 + Missense_Mutation SNP C C T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr10:106959827C>T ENST00000369701.3 + 15 2307 c.2080C>T c.(2080-2082)Cgg>Tgg p.R694W SORCS3_ENST00000369699.4_5'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 694 integral to membrane neuropeptide receptor activity p.R694W(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TATCTTCAGCCGGCATTGCAC 0.532 7 214 --- --- --- --- TDRD1 56165 broad.mit.edu 37 10 115986961 115986961 + Missense_Mutation SNP A A C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr10:115986961A>C ENST00000251864.2 + 23 3459 c.3306A>C c.(3304-3306)aaA>aaC p.K1102N TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.K988N|TDRD1_ENST00000369282.1_Intron NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 1102 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 p.K1102N(1) 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) CAGTTGAGAAATGTTCTGAGA 0.343 72 130 --- --- --- --- PSMA1 5682 broad.mit.edu 37 11 14535392 14535392 + Missense_Mutation SNP C C A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr11:14535392C>A ENST00000530457.1 - 6 840 c.310G>T c.(310-312)Ggt>Tgt p.G104C PSMA1_ENST00000555531.1_Intron|PSMA1_ENST00000418988.2_Missense_Mutation_p.G135C|PSMA1_ENST00000419365.2_Intron|PSMA1_ENST00000396394.2_Missense_Mutation_p.G129C|PSMA1_ENST00000396393.1_Missense_Mutation_p.G129C P25786 PSA1_HUMAN proteasome (prosome, macropain) subunit, alpha type, 1 129 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity p.G135C(1) large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 AGACCAACACCATATGGTCTC 0.308 3 69 --- --- --- --- OR5D18 219438 broad.mit.edu 37 11 55587401 55587401 + Missense_Mutation SNP T T C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr11:55587401T>C ENST00000333976.4 + 1 316 c.296T>C c.(295-297)gTa>gCa p.V99A NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V99A(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TTAGGATGCGTAGTACAATTC 0.428 9 502 --- --- --- --- OR4D6 219983 broad.mit.edu 37 11 59225135 59225135 + Missense_Mutation SNP C C G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr11:59225135C>G ENST00000300127.2 + 1 725 c.702C>G c.(700-702)aaC>aaG p.N234K NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N234K(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 AGGGGCGGAACAAGGCCCTCT 0.587 4 149 --- --- --- --- TIGD3 220359 broad.mit.edu 37 11 65123520 65123520 + Missense_Mutation SNP G G C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr11:65123520G>C ENST00000309880.5 + 2 448 c.241G>C c.(241-243)Gag>Cag p.E81Q NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 81 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding p.E81Q(1) endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 CGGGATCGACGAGGCTCTGCT 0.627 9 172 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92088335 92088335 + Silent SNP C C A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr11:92088335C>A ENST00000298047.6 + 1 3074 c.3057C>A c.(3055-3057)gtC>gtA p.V1019V FAT3_ENST00000541502.1_Silent_p.V1019V|FAT3_ENST00000525166.1_Silent_p.V869V|FAT3_ENST00000409404.2_Silent_p.V1019V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1019 Cadherin 9. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.V1019V(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGCGGCCTGTCTCTCTGTCAT 0.463 TCGA Ovarian(4;0.039) 4 82 --- --- --- --- CASP1 834 broad.mit.edu 37 11 104899864 104899864 + Missense_Mutation SNP G G C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr11:104899864G>C ENST00000533400.1 - 7 1028 c.993C>G c.(991-993)tgC>tgG p.C331W CASP1_ENST00000593315.1_Missense_Mutation_p.C310W|CASP1_ENST00000436863.3_Missense_Mutation_p.C331W|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.C310W|CASP1_ENST00000598974.1_Missense_Mutation_p.C331W|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.C294W|CASP1_ENST00000526568.1_Missense_Mutation_p.C238W|CASP1_ENST00000528974.1_Missense_Mutation_p.C292W|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.C310W NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 331 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding p.C331W(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) GTGTGGAAGAGCAGAAAGCGA 0.408 13 106 --- --- --- --- BACE1 23621 broad.mit.edu 37 11 117186309 117186309 + Missense_Mutation SNP C C G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr11:117186309C>G ENST00000313005.6 - 1 663 c.203G>C c.(202-204)aGg>aCg p.R68T BACE1_ENST00000428381.2_Missense_Mutation_p.R68T|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Missense_Mutation_p.R68T|BACE1_ENST00000513780.1_Missense_Mutation_p.R68T|BACE1_ENST00000445823.2_Missense_Mutation_p.R68T NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 68 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding p.R68T(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) CGACTTGCCCCTCAGGTTGTC 0.711 12 31 --- --- --- --- ARHGAP32 9743 broad.mit.edu 37 11 128844094 128844094 + Nonsense_Mutation SNP C C A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr11:128844094C>A ENST00000310343.9 - 20 2955 c.2956G>T c.(2956-2958)Gaa>Taa p.E986* ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E637*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E912*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E637* NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 986 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding p.E637*(2)|p.E986*(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CCTGGCAATTCTACTTCTTCA 0.478 6 215 --- --- --- --- FKBP4 2288 broad.mit.edu 37 12 2910444 2910444 + Missense_Mutation SNP G G T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr12:2910444G>T ENST00000001008.4 + 9 1381 c.1194G>T c.(1192-1194)caG>caT p.Q398H RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA NM_002014.3 NP_002005.1 Q02790 FKBP4_HUMAN FK506 binding protein 4, 59kDa 398 Interaction with tubulin (By similarity). negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging p.Q398H(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1) 14 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) TGTGCCAGCAGCGGATCCGAA 0.567 37 195 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 13717457 13717457 + Silent SNP G G T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr12:13717457G>T ENST00000609686.1 - 13 2924 c.2715C>A c.(2713-2715)gcC>gcA p.A905A NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 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.A905A(2) 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) CCATGTTCTTGGCCGTGCGCA 0.592 17 326 --- --- --- --- AVPR1A 552 broad.mit.edu 37 12 63543828 63543828 + Silent SNP A A G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr12:63543828A>G ENST00000299178.2 - 1 894 c.789T>C c.(787-789)ggT>ggC p.G263G NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 263 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity p.G263G(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) GGAAGGCCACACCCGCTTGCT 0.587 11 273 --- --- --- --- MIR758 768212 broad.mit.edu 37 14 101492436 101492436 + RNA SNP A A T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr14:101492436A>T ENST00000390227.1 + 0 80 NR_030406.1 AACCCTCAGTATCTAATGCCC 0.507 8 226 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105417068 105417068 + Missense_Mutation SNP C C G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr14:105417068C>G ENST00000333244.5 - 7 4839 c.4720G>C c.(4720-4722)Ggg>Cgg p.G1574R AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1574 nucleus p.G1574R(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCAGGTGCCCTTTGAGGCCG 0.607 10 657 --- --- --- --- ABHD2 11057 broad.mit.edu 37 15 89736470 89736470 + Missense_Mutation SNP A A G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr15:89736470A>G ENST00000352732.5 + 10 1521 c.1001A>G c.(1000-1002)tAt>tGt p.Y334C ABHD2_ENST00000355100.3_Missense_Mutation_p.Y334C|ABHD2_ENST00000565973.1_Missense_Mutation_p.Y334C NM_152924.4 NP_690888.1 P08910 ABHD2_HUMAN abhydrolase domain containing 2 334 integral to membrane carboxylesterase activity p.Y334C(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1) 23 Lung NSC(78;0.0472)|all_lung(78;0.089) TTGCAGATTTATGTTCCTCTC 0.408 33 123 --- --- --- --- SNX29 92017 broad.mit.edu 37 16 12136844 12136844 + Missense_Mutation SNP G G T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr16:12136844G>T ENST00000566228.1 + 5 407 c.338G>T c.(337-339)gGc>gTc p.G113V SNX29_ENST00000568359.1_3'UTR NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 0 cell communication phosphatidylinositol binding p.G113V(1) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 TCAGACGTGGGCCGGGGTCGC 0.652 4 58 --- --- --- --- ACSM3 6296 broad.mit.edu 37 16 20792044 20792044 + Missense_Mutation SNP G G C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr16:20792044G>C ENST00000289416.5 + 5 1122 c.647G>C c.(646-648)aGt>aCt p.S216T ERI2_ENST00000300005.3_Missense_Mutation_p.L303V|ACSM3_ENST00000450120.2_Missense_Mutation_p.S208T|ACSM3_ENST00000440284.2_Missense_Mutation_p.S216T NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 216 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.S216T(1)|p.L303V(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 AGACATGCCAGTGACAGCCAC 0.428 5 219 --- --- --- --- HERPUD1 9709 broad.mit.edu 37 16 56976046 56976046 + Missense_Mutation SNP A A G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr16:56976046A>G ENST00000439977.2 + 7 1105 c.908A>G c.(907-909)cAt>cGt p.H303R HERPUD1_ENST00000379792.2_Missense_Mutation_p.H278R|HERPUD1_ENST00000344114.4_Missense_Mutation_p.H144R|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.H302R NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 303 endoplasmic reticulum membrane|integral to membrane protein binding p.H302R(1)|p.H303R(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 CTTTGAAGGCATCACGTTGGG 0.478 T ERG prostate 10 263 --- --- --- --- CDH13 1012 broad.mit.edu 37 16 83704517 83704517 + Silent SNP G G C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr16:83704517G>C ENST00000566620.1 + 9 1514 c.1224G>C c.(1222-1224)ggG>ggC p.G408G CDH13_ENST00000428848.3_Silent_p.G369G|CDH13_ENST00000268613.10_Silent_p.G455G NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 408 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding p.G408G(1) large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GAAACCCCGGGCAGAGCTTTG 0.502 10 221 --- --- --- --- PER1 5187 broad.mit.edu 37 17 8052022 8052022 + Missense_Mutation SNP C C A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr17:8052022C>A ENST00000317276.4 - 8 1225 c.988G>T c.(988-990)Ggg>Tgg p.G330W PER1_ENST00000581082.1_Missense_Mutation_p.G310W|PER1_ENST00000354903.5_Missense_Mutation_p.G314W NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 330 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity p.G330W(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GCAGGGGCCCCATCTGAGACC 0.642 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 5 203 --- --- --- --- PIK3R5 23533 broad.mit.edu 37 17 8792523 8792523 + Silent SNP C C T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr17:8792523C>T ENST00000447110.1 - 9 952 c.828G>A c.(826-828)ggG>ggA p.G276G PIK3R5_ENST00000581552.1_Silent_p.G276G|PIK3R5_ENST00000584803.1_Silent_p.G276G NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 276 AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). platelet activation cytosol|membrane|nucleus p.G276G(2) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 TGTGGAGCTTCCCTGGTTTTG 0.592 17 48 --- --- --- --- MYH1 4619 broad.mit.edu 37 17 10405105 10405105 + Missense_Mutation SNP G G T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr17:10405105G>T ENST00000226207.5 - 25 3329 c.3235C>A c.(3235-3237)Caa>Aaa p.Q1079K RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1079 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.Q1079K(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCATCAAGTTGTTGTTTGTCA 0.343 11 78 --- --- --- --- SLFN5 162394 broad.mit.edu 37 17 33588030 33588030 + Missense_Mutation SNP G G C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr17:33588030G>C ENST00000299977.4 + 3 1201 c.1053G>C c.(1051-1053)ttG>ttC p.L351F SLFN5_ENST00000542451.1_Missense_Mutation_p.L351F NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 351 cell differentiation ATP binding p.L351F(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) AGTTGAGTTTGTCATCTGCCA 0.468 13 281 --- --- --- --- RSAD1 55316 broad.mit.edu 37 17 48557076 48557076 + Silent SNP T T C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr17:48557076T>C ENST00000258955.2 + 2 307 c.222T>C c.(220-222)tgT>tgC p.C74C NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 74 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding p.C74C(1) breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) TGCAGAAGTGTCTGGTGACCG 0.597 OREG0024566 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 86 --- --- --- --- HOOK2 29911 broad.mit.edu 37 19 12878871 12878871 + Missense_Mutation SNP G G A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr19:12878871G>A ENST00000264827.5 - 12 1341 c.1171C>T c.(1171-1173)Cgc>Tgc p.R391C HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.R391C NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 391 Sufficient for interaction with microtubules. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding p.R391C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 TCCAGGTTGCGGCATTCAAAT 0.572 5 281 --- --- --- --- SIPA1L3 23094 broad.mit.edu 37 19 38572844 38572844 + Missense_Mutation SNP G G T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr19:38572844G>T ENST00000222345.6 + 3 1148 c.639G>T c.(637-639)atG>atT p.M213I NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 213 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.M213I(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGCAGGGCATGCCCGAGCAGA 0.721 4 148 --- --- --- --- BPIFB1 92747 broad.mit.edu 37 20 31890815 31890815 + Missense_Mutation SNP C C A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr20:31890815C>A ENST00000253354.1 + 11 1236 c.1075C>A c.(1075-1077)Caa>Aaa p.Q359K BPIFB1_ENST00000464032.1_3'UTR NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 359 extracellular space lipid binding p.Q359K(1) CAAGGTGGCCCAACTGATCGT 0.532 23 76 --- --- --- --- BRD1 23774 broad.mit.edu 37 22 50217746 50217746 + Missense_Mutation SNP T T C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr22:50217746T>C ENST00000216267.8 - 1 706 c.220A>G c.(220-222)Aac>Gac p.N74D BRD1_ENST00000404760.1_Missense_Mutation_p.N74D|BRD1_ENST00000404034.1_Missense_Mutation_p.N74D|BRD1_ENST00000457780.2_Missense_Mutation_p.N74D NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 74 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding p.N74D(1) endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TTGTTGCTGTTGCACTCACTC 0.473 6 200 --- --- --- --- LMF2 91289 broad.mit.edu 37 22 50941923 50941923 + Missense_Mutation SNP C C T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr22:50941923C>T ENST00000216080.5 - 14 2114 c.1946G>A c.(1945-1947)cGc>cAc p.R649H LMF2_ENST00000474879.2_Missense_Mutation_p.R674H|LMF2_ENST00000380796.3_Missense_Mutation_p.R561H Q9BU23 LMF2_HUMAN lipase maturation factor 2 674 endoplasmic reticulum membrane|integral to membrane p.R649H(1) breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGCTGGCCTGCGCTTCTCCCC 0.662 6 34 --- --- --- --- PDK3 5165 broad.mit.edu 37 X 24516991 24516991 + Silent SNP C C T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chrX:24516991C>T ENST00000441463.2 + 3 294 c.294C>T c.(292-294)agC>agT p.S98S PDK3_ENST00000379162.4_Silent_p.S98S|PDK3_ENST00000493226.1_3'UTR NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 98 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.S98S(2) NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 AAAATAAGAGCCCTGAGGATC 0.323 31 14 --- --- --- --- ZCCHC5 203430 broad.mit.edu 37 X 77913571 77913571 + Missense_Mutation SNP G G A rs144237768 TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chrX:77913571G>A ENST00000321110.1 - 2 642 c.347C>T c.(346-348)gCg>gTg p.A116V NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 116 Pro-rich. nucleic acid binding|zinc ion binding p.A116V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TGCTGGAGGCGCCAGGGACTC 0.627 5 49 --- --- --- --- SPRY3 10251 broad.mit.edu 37 X 155003970 155003970 + Missense_Mutation SNP T T A TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chrX:155003970T>A ENST00000302805.2 + 2 868 c.437T>A c.(436-438)aTc>aAc p.I146N NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 146 multicellular organismal development|regulation of signal transduction cytoplasm|membrane p.I146N(1) all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CACCTCTTCATCTGTGAGGAA 0.612 7 221 --- --- --- --- ZNF638 27332 broad.mit.edu 37 2 71582900 71582900 + Frame_Shift_Del DEL T T - TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr2:71582900delT ENST00000409544.1 + 3 1999 c.1369delT c.(1369-1371)ttafs p.L457fs ZNF638_ENST00000264447.4_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000355812.3_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Frame_Shift_Del_p.L457fs NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 457 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 CTGTCGACAGTTACGTCAACA 0.289 7 74 --- --- --- --- ZCCHC10 54819 broad.mit.edu 37 5 132334285 132334287 + In_Frame_Del DEL TTC TTC - TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr5:132334285_132334287delTTC ENST00000324170.3 - 4 567_569 c.501_503delGAA c.(499-504)aagaaa>aaa p.167_168KK>K ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000509437.1_In_Frame_Del_p.189_190KK>K|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_In_Frame_Del_p.183_184KK>K|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_In_Frame_Del_p.153_154KK>K NM_017665.1 NP_060135.1 Q8TBK6 ZCH10_HUMAN zinc finger, CCHC domain containing 10 189 Ser-rich. nucleic acid binding|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTATTTCTTTTTCTTCTTCTTTG 0.419 7 109 --- --- --- --- ATP5A1 498 broad.mit.edu 37 18 43668136 43668137 + Frame_Shift_Ins INS - - T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr18:43668136_43668137insT ENST00000593152.2 - 6 1126_1127 c.587_588insA c.(586-588)tatfs p.Y196fs ATP5A1_ENST00000590665.1_Frame_Shift_Ins_p.Y224fs|ATP5A1_ENST00000282050.2_Frame_Shift_Ins_p.Y246fs|ATP5A1_ENST00000398752.6_Frame_Shift_Ins_p.Y246fs NM_001257335.1 NP_001244264.1 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle 246 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 CAATAGCAACATAAATACAGTA 0.347 43 229 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70463721 70463722 + Frame_Shift_Del DEL AT AT - TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chrX:70463721_70463722delAT ENST00000373998.1 - 21 4050_4051 c.3353_3354delAT c.(3352-3354)tatfs p.Y1118fs ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.Y1132fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.Y1125fs NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 1130 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TGTCAGGTTCATATCGTTCACC 0.495 53 26 --- --- --- --- IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a94aed7-03d7-463d-bb87-bca2994f297d 87c4609d-4743-435b-8e1c-b5187a750224 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H NM_001282387.1 NP_001269316.1 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393 Mis gliobastoma 7 143 --- --- --- ---