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 SGIP1 84251 broad.mit.edu 37 1 67137639 67137639 + Missense_Mutation SNP C C A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr1:67137639C>A ENST00000371037.4 + 11 598 c.521C>A c.(520-522)gCa>gAa p.A174E SGIP1_ENST00000468286.1_3'UTR|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.A178E|SGIP1_ENST00000371039.1_Missense_Mutation_p.A142E|SGIP1_ENST00000371035.3_Missense_Mutation_p.A131E|SGIP1_ENST00000371036.3_Missense_Mutation_p.A141E NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 174 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding p.A142E(1)|p.A174E(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GAAGAAGTGGCAAGACCCAGG 0.378 3 77 --- --- --- --- PCDHGA2 56113 broad.mit.edu 37 5 140720213 140720213 + Missense_Mutation SNP G G A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr5:140720213G>A ENST00000394576.2 + 1 1675 c.1675G>A c.(1675-1677)Gcg>Acg p.A559T PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.A559T(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) GAACGACAACGCGCCCGAGAT 0.622 14 278 --- --- --- --- ANKMY2 57037 broad.mit.edu 37 7 16676046 16676046 + Missense_Mutation SNP G G C TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr7:16676046G>C ENST00000306999.2 - 2 345 c.102C>G c.(100-102)agC>agG p.S34R ANKMY2_ENST00000421746.1_5'UTR NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 34 cilium zinc ion binding p.S34R(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) GAACATTCTTGCTGGATAATA 0.289 3 65 --- --- --- --- MFHAS1 9258 broad.mit.edu 37 8 8749969 8749969 + Silent SNP C C A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr8:8749969C>A ENST00000276282.6 - 1 1186 c.600G>T c.(598-600)ctG>ctT p.L200L NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 200 p.L200L(1) endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CCAGCTGCAGCAGCTGCCGGG 0.672 3 22 --- --- --- --- DHTKD1 55526 broad.mit.edu 37 10 12143062 12143062 + Missense_Mutation SNP G G A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr10:12143062G>A ENST00000263035.4 + 10 1840 c.1778G>A c.(1777-1779)gGc>gAc p.G593D NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 593 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.G593D(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CGTCTAAGTGGCCAAGATGTT 0.408 16 349 --- --- --- --- TTC17 55761 broad.mit.edu 37 11 43513626 43513626 + Silent SNP C C T TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr11:43513626C>T ENST00000039989.4 + 23 3221 c.3207C>T c.(3205-3207)gaC>gaT p.D1069D NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 1069 binding p.D1069D(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TCTGGAATGACGCCGTCATAG 0.517 14 393 --- --- --- --- HCFC2 29915 broad.mit.edu 37 12 104487295 104487295 + Silent SNP T T G rs138874026 TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr12:104487295T>G ENST00000229330.4 + 10 1520 c.1416T>G c.(1414-1416)gcT>gcG p.A472A HCFC2_ENST00000550335.1_3'UTR NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 472 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity p.A472A(1) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 CATCAAATGCTTCTAATCATA 0.333 8 197 --- --- --- --- DHX38 9785 broad.mit.edu 37 16 72130068 72130068 + Silent SNP C C T TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr16:72130068C>T ENST00000268482.3 + 2 521 c.12C>T c.(10-12)acC>acT p.T4T DHX38_ENST00000536867.1_Silent_p.T4T NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 4 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.T4T(1) endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) TGGGGGACACCAGTGAGGATG 0.498 5 149 --- --- --- --- SGSM2 9905 broad.mit.edu 37 17 2267466 2267466 + Missense_Mutation SNP G G T TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr17:2267466G>T ENST00000268989.3 + 8 1098 c.921G>T c.(919-921)gaG>gaT p.E307D SGSM2_ENST00000426855.2_Missense_Mutation_p.E307D|SGSM2_ENST00000574563.1_Missense_Mutation_p.E307D NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 307 intracellular Rab GTPase activator activity p.E307D(1) biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) GGGACTCCGAGCTGGAAAAGA 0.617 3 83 --- --- --- ---