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 STIL 6491 broad.mit.edu 37 1 47717391 47717391 + Missense_Mutation SNP C C A TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr1:47717391C>A ENST00000360380.3 - 18 3644 c.3281G>T c.(3280-3282)aGc>aTc p.S1094I STIL_ENST00000337817.5_Missense_Mutation_p.S1094I|STIL_ENST00000371877.3_Missense_Mutation_p.S1095I|STIL_ENST00000243182.6_Missense_Mutation_p.S1094I|STIL_ENST00000396221.2_Missense_Mutation_p.S1077I NM_001282936.1 NP_001269865.1 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 1094 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) ATGGAGAAGGCTGAATGGGTC 0.368 9 209 --- --- --- --- RPAP2 79871 broad.mit.edu 37 1 92789789 92789789 + Missense_Mutation SNP G G C TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr1:92789789G>C ENST00000610020.1 + 8 1421 c.1312G>C c.(1312-1314)Ggc>Cgc p.G438R NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) ACCTTTTAGGGGCTCAGGTAC 0.413 23 74 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181702058 181702058 + Missense_Mutation SNP C C T TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr1:181702058C>T ENST00000526775.1 + 19 2944 c.2779C>T c.(2779-2781)Cgc>Tgc p.R927C CACNA1E_ENST00000367570.1_Missense_Mutation_p.R946C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R927C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R897C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R553C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R878C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R946C NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 946 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CAGCCAGGAACGCAGTCTGGA 0.627 25 99 --- --- --- --- PPIG 9360 broad.mit.edu 37 2 170493058 170493058 + Silent SNP A A G TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr2:170493058A>G ENST00000260970.3 + 14 1510 c.1290A>G c.(1288-1290)aaA>aaG p.K430K PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Silent_p.K430K|PPIG_ENST00000409714.3_Silent_p.K415K NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 430 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) AAGACCATAAATCTAACAGCA 0.328 11 32 --- --- --- --- NRP2 8828 broad.mit.edu 37 2 206641226 206641226 + Silent SNP G G A TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr2:206641226G>A ENST00000357118.4 + 16 2713 c.2682G>A c.(2680-2682)gaG>gaA p.E894E NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000272849.3_Silent_p.E899E NM_201267.1 NP_957719 O60462 NRP2_HUMAN neuropilin 2 0 angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 TTAAGCTAGAGCAAGACCGTG 0.532 OREG0015157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 117 --- --- --- --- ZNF502 91392 broad.mit.edu 37 3 44762640 44762640 + Missense_Mutation SNP A A G TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr3:44762640A>G ENST00000296091.4 + 4 587 c.331A>G c.(331-333)Acc>Gcc p.T111A ZNF502_ENST00000449836.1_Missense_Mutation_p.T111A|ZNF502_ENST00000436624.2_Missense_Mutation_p.T111A NM_001134440.1|NM_001282880.1|NM_033210.4 NP_001127912.1|NP_001269809.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) CTTGCTTTTGACCTCAAGCCT 0.383 7 92 --- --- --- --- CNGA1 1259 broad.mit.edu 37 4 47938768 47938768 + Silent SNP G G C TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr4:47938768G>C ENST00000402813.3 - 10 2092 c.1950C>G c.(1948-1950)ctC>ctG p.L650L CNGA1_ENST00000420489.2_Silent_p.L581L|CNGA1_ENST00000514170.1_Silent_p.L581L|CNGA1_ENST00000358519.4_Silent_p.L581L|CNGA1_ENST00000544810.1_Silent_p.L581L P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 581 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 GAGCTTCCATGAGGTCATCTT 0.408 56 161 --- --- --- --- LPHN3 23284 broad.mit.edu 37 4 62903460 62903460 + Silent SNP G G A TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr4:62903460G>A ENST00000512091.2 + 23 4146 c.3399G>A c.(3397-3399)gaG>gaA p.E1133E LPHN3_ENST00000506700.1_Silent_p.E1124E|LPHN3_ENST00000506746.1_Silent_p.E1192E|LPHN3_ENST00000514157.1_Silent_p.E1124E|LPHN3_ENST00000508946.1_Silent_p.E1133E|LPHN3_ENST00000514996.1_Silent_p.E1124E|LPHN3_ENST00000507164.1_Silent_p.E1192E|LPHN3_ENST00000509896.1_Silent_p.E1201E|LPHN3_ENST00000504896.1_Silent_p.E1133E|LPHN3_ENST00000507625.1_Silent_p.E1192E|LPHN3_ENST00000506720.1_Silent_p.E1201E|LPHN3_ENST00000511324.1_Silent_p.E1192E|LPHN3_ENST00000545650.1_Silent_p.E1133E|LPHN3_ENST00000508693.1_Silent_p.E1201E|LPHN3_ENST00000514591.1_Silent_p.E1133E Q9HAR2 LPHN3_HUMAN latrophilin 3 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TACGAAAAGAGTATGGGAAAT 0.388 5 64 --- --- --- --- ADAMTS16 170690 broad.mit.edu 37 5 5190127 5190127 + Missense_Mutation SNP G G A TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr5:5190127G>A ENST00000274181.7 + 7 1229 c.1091G>A c.(1090-1092)aGc>aAc p.S364N ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S364N NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 364 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 ACCTTAAGTAGCTTCTGCCAG 0.483 20 79 --- --- --- --- UBD 10537 broad.mit.edu 37 6 29523919 29523919 + Missense_Mutation SNP T T C TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr6:29523919T>C ENST00000377050.4 - 2 459 c.236A>G c.(235-237)aAa>aGa p.K79R GABBR1_ENST00000355973.3_3'UTR NM_006398.3 NP_006389.2 O15205 UBD_HUMAN ubiquitin D 79 Ubiquitin 1. aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process aggresome|cytoplasm|nucleus proteasome binding kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 CTTCACCACTTTCAGGGTAAG 0.527 13 41 --- --- --- --- TRIM4 89122 broad.mit.edu 37 7 99506411 99506411 + Missense_Mutation SNP T T C TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr7:99506411T>C ENST00000355947.2 - 4 721 c.592A>G c.(592-594)Aga>Gga p.R198G TRIM4_ENST00000349062.2_Missense_Mutation_p.R172G|TRIM4_ENST00000354241.5_Missense_Mutation_p.R172G NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 198 protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) GTGCTGATTCTCATTCGCTGA 0.428 32 93 --- --- --- --- CA3 761 broad.mit.edu 37 8 86352079 86352079 + Missense_Mutation SNP C C A TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr8:86352079C>A ENST00000285381.2 + 2 256 c.173C>A c.(172-174)aCc>aAc p.T58N NM_005181.3 NP_005172.1 P07451 CAH3_HUMAN carbonic anhydrase III, muscle specific 58 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TCTGCCAAGACCATCCTGAAT 0.453 5 73 --- --- --- --- TYRP1 7306 broad.mit.edu 37 9 12698502 12698502 + Missense_Mutation SNP G G T TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr9:12698502G>T ENST00000388918.5 + 4 889 c.760G>T c.(760-762)Ggg>Tgg p.G254W TYRP1_ENST00000381136.2_Intron|TYRP1_ENST00000381137.2_Intron NM_000550.2 NP_000541.1 P17643 TYRP1_HUMAN tyrosinase-related protein 1 254 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) TTTTGCAACGGGGAAAAATGT 0.408 Oculocutaneous Albinism 4 65 --- --- --- --- FOXJ2 55810 broad.mit.edu 37 12 8197495 8197495 + Missense_Mutation SNP G G C TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr12:8197495G>C ENST00000162391.3 + 6 1903 c.758G>C c.(757-759)tGg>tCg p.W253S FOXJ2_ENST00000428177.2_Missense_Mutation_p.W253S NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 253 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) GATCTAAGCTGGTCCTTCCGC 0.502 40 156 --- --- --- --- KSR2 283455 broad.mit.edu 37 12 117969491 117969491 + Missense_Mutation SNP T T G TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr12:117969491T>G ENST00000425217.1 - 11 1676 c.1622A>C c.(1621-1623)aAg>aCg p.K541T KSR2_ENST00000339824.5_Missense_Mutation_p.K570T|KSR2_ENST00000302438.5_Missense_Mutation_p.K267T|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 570 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAACTGCTGCTTGTATTTGTA 0.502 3 48 --- --- --- --- HCAR2 338442 broad.mit.edu 37 12 123186916 123186916 + Silent SNP G G A TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr12:123186916G>A ENST00000328880.5 - 1 974 c.915C>T c.(913-915)ttC>ttT p.F305F HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 305 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) TCAAAGTGGAGAAGAAGTTGG 0.532 17 61 --- --- --- --- SIAH3 283514 broad.mit.edu 37 13 46357972 46357972 + Missense_Mutation SNP C C T TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr13:46357972C>T ENST00000400405.2 - 2 462 c.356G>A c.(355-357)cGc>cAc p.R119H NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 119 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 CACCTCCAGGCGGCCTTCCCA 0.672 18 62 --- --- --- --- ALDH1A3 220 broad.mit.edu 37 15 101425525 101425525 + Silent SNP A A C TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr15:101425525A>C ENST00000329841.5 + 2 685 c.153A>C c.(151-153)acA>acC p.T51T ALDH1A3_ENST00000346623.6_Silent_p.T51T|RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000560555.1_3'UTR NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 51 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) AGTTTGCTACATGTAACCCTT 0.343 3 65 --- --- --- --- EPHX3 79852 broad.mit.edu 37 19 15338333 15338333 + Missense_Mutation SNP G G T TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr19:15338333G>T ENST00000221730.3 - 7 1218 c.998C>A c.(997-999)cCa>cAa p.P333Q EPHX3_ENST00000435261.1_Missense_Mutation_p.P333Q|EPHX3_ENST00000602233.1_Missense_Mutation_p.P333Q NM_024794.2 NP_079070.1 Q9H6B9 EPHX3_HUMAN epoxide hydrolase 3 333 extracellular region hydrolase activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 CCCTATGCCTGGCAGGATGTG 0.617 16 57 --- --- --- --- LSR 51599 broad.mit.edu 37 19 35757262 35757262 + Splice_Site SNP T T C TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr19:35757262T>C ENST00000602122.1 + 5 1353 c.866T>C c.(865-867)cTg>cCg p.L289P LSR_ENST00000347609.4_Splice_Site_p.L271P|LSR_ENST00000354900.3_Splice_Site_p.L289P|LSR_ENST00000360798.3_Splice_Site_p.V240A|LSR_ENST00000361790.3_Splice_Site_p.L308P|LSR_ENST00000427250.1_Splice_Site_p.M152T Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 308 Cys-rich. embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GTCCTCACAGTGTATGCCGCC 0.632 29 100 --- --- --- --- CST5 1473 broad.mit.edu 37 20 23860160 23860160 + Missense_Mutation SNP T T C TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr20:23860160T>C ENST00000304710.4 - 1 227 c.154A>G c.(154-156)Atc>Gtc p.I52V NM_001900.4 NP_001891.2 P28325 CYTD_HUMAN cystatin D 52 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 TACTCGCTGATGGCAAAGTCC 0.582 8 244 --- --- --- --- FAM105A 54491 broad.mit.edu 37 5 14601484 14601487 + Frame_Shift_Del DEL TTGA TTGA - TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr5:14601484_14601487delTTGA ENST00000274217.3 + 4 401_404 c.281_284delTTGA c.(280-285)gttgatfs p.VD94fs NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 94 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) GAGGCAGAGGTTGATTTACTCAGT 0.426 11 59 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 279007 279007 + Frame_Shift_Del DEL C C - TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr20:279007delC ENST00000382352.3 + 1 1271 c.780delC c.(778-780)ttcfs p.F260fs NM_033089.6 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 260 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) TCATCCTCTTCCGGAACGAGA 0.597 25 74 --- --- --- --- SLC12A5 57468 broad.mit.edu 37 20 44672552 44672552 + Frame_Shift_Del DEL G G - rs145624716 TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e10b6bea-f2b0-4473-be35-709908f6f57b deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d g.chr20:44672552delG ENST00000243964.3 + 11 1472 c.1374delG c.(1372-1374)gagfs p.E458fs SLC12A5_ENST00000454036.2_Frame_Shift_Del_p.E481fs NM_020708.4 NP_065759.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 481 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCTGCATTGAGGGGGTCGTCC 0.557 8 187 --- --- --- ---