Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut MYO5A 4644 broad.mit.edu 37 15 52605985 52605985 + Missense_Mutation SNP G G A TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr15:52605985G>A ENST00000399231.3 - 41 5719 c.5476C>T c.(5476-5478)Cct>Tct p.P1826S MYO5A_ENST00000356338.6_Missense_Mutation_p.P1799S|MYO5A_ENST00000399233.2_Missense_Mutation_p.P1823S|MYO5A_ENST00000553916.1_Missense_Mutation_p.P1824S|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1851S NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1826 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) AAGGTGACAGGAAAGATGTGT 0.473000 4 59 0 0 0.00024832 0 0 RPL4 6124 broad.mit.edu 37 15 66792426 66792426 + Missense_Mutation SNP G G A TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr15:66792426G>A ENST00000307961.6 - 9 1098 c.1006C>T c.(1006-1008)Cgc>Tgc p.R336C RPL4_ENST00000568588.1_Missense_Mutation_p.R242C NM_000968.3 NP_000959.2 P36578 RL4_HUMAN ribosomal protein L4 336 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 GTGTTCCGGCGCATGGTCTTT 0.448000 12 70 0 0 0.00010058 0 0 SH2D2A 9047 broad.mit.edu 37 1 156777073 156777073 + Missense_Mutation SNP T T G TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr1:156777073T>G ENST00000392306.2 - 8 1236 c.1097A>C c.(1096-1098)cAc>cCc p.H366P SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 356 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGGCTGGTGGGGCAGGGG 0.597000 6 9 0 0 0.000274275 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296361 39296361 + Missense_Mutation SNP A A G rs146882220 by1000genomes TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr17:39296361A>G ENST00000345847.4 - 1 378 c.379T>C c.(379-381)Tcc>Ccc p.S127P NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 123 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 CAGCACTGGGACCTGCAGCAC 0.652000 6 36 0 0 0.000157383 0 0 ABCC10 89845 broad.mit.edu 37 6 43400340 43400340 + Missense_Mutation SNP G G T TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr6:43400340G>T ENST00000244533.3 + 1 852 c.493G>T c.(493-495)Gat>Tat p.D165Y ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.D208Y NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 208 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CCTGCCCGAGGATCAAGAACC 0.637000 18 135 1.99824e-07 1.27487e-05 0.000566183 1 0 FRRS1 391059 broad.mit.edu 37 1 100181191 100181191 + Missense_Mutation SNP G G T TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr1:100181191G>T ENST00000414213.1 - 12 1875 c.1274C>A c.(1273-1275)aCc>aAc p.T425N FRRS1_ENST00000492943.1_5'UTR|FRRS1_ENST00000287474.5_Missense_Mutation_p.T425N Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 425 Cytochrome b561. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) AGCAATGCAGGTGAGGACAGT 0.373000 23 59 2.41591e-17 1.65145e-15 0.000720815 1 0 ATF6B 1388 broad.mit.edu 37 6 32083526 32083526 + Missense_Mutation SNP T T C TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr6:32083526T>C ENST00000375201.4 - 18 2138 c.2093A>G c.(2092-2094)aAt>aGt p.N698S ATF6B_ENST00000375203.3_Missense_Mutation_p.N701S Q99941 ATF6B_HUMAN activating transcription factor 6 beta 701 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TCAGGGATGATTGAGGTAGAG 0.612000 5 113 0 0 0.000602214 0 0 IFI16 3428 broad.mit.edu 37 1 158990261 158990261 + Missense_Mutation SNP G G A TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr1:158990261G>A ENST00000295809.7 + 6 1358 c.1103G>A c.(1102-1104)cGa>cAa p.R368Q IFI16_ENST00000340979.6_Missense_Mutation_p.R368Q|IFI16_ENST00000368132.3_Missense_Mutation_p.R368Q|IFI16_ENST00000368131.4_Missense_Mutation_p.R368Q|IFI16_ENST00000359709.3_Missense_Mutation_p.R312Q|IFI16_ENST00000448393.2_Missense_Mutation_p.R368Q|IFI16_ENST00000430894.2_Missense_Mutation_p.R316Q Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 368 HIN-200 1. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) TTCTGCTTTCGACTTAGAAAA 0.358000 42 43 0 0 0.000319135 0 0 ALG13 79868 broad.mit.edu 37 X 110951444 110951444 + Silent SNP T T C TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chrX:110951444T>C ENST00000394780.3 + 4 585 c.573T>C c.(571-573)gcT>gcC p.A191A ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.A87A NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 191 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 CTTGCCACGCTTTTTTTCCTC 0.483000 3 84 0 0 0.00024832 0 0 MYH1 4619 broad.mit.edu 37 17 10404034 10404034 + Silent SNP A A G TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr17:10404034A>G ENST00000226207.5 - 28 3868 c.3774T>C c.(3772-3774)gaT>gaC p.D1258D CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1258 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity 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 CACTCAGTTGATCTTCTAGAG 0.468000 4 90 0 0 0.00024832 0 0 RRP12 23223 broad.mit.edu 37 10 99125892 99125892 + Missense_Mutation SNP T T C TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr10:99125892T>C ENST00000370992.4 - 29 3601 c.3490A>G c.(3490-3492)Aag>Gag p.K1164E RRP12_ENST00000315563.6_Missense_Mutation_p.K1064E|RRP12_ENST00000536831.1_Missense_Mutation_p.K882E|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.K1103E NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 1164 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TCCTCCATCTTGTTGCCGTCT 0.597000 5 151 0 0 3.59834e-05 0 0 CCDC27 148870 broad.mit.edu 37 1 3677920 3677920 + Missense_Mutation SNP G G A TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr1:3677920G>A ENST00000294600.2 + 5 871 c.787G>A c.(787-789)Gag>Aag p.E263K NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 263 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GGAGGAGAGGGAGGCCCTGAA 0.592000 8 71 0 0 0.000157383 0 0 MIA3 375056 broad.mit.edu 37 1 222825616 222825616 + Missense_Mutation SNP A A C TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr1:222825616A>C ENST00000344922.5 + 13 4053 c.4028A>C c.(4027-4029)aAg>aCg p.K1343T MIA3_ENST00000340535.7_Missense_Mutation_p.K221T|MIA3_ENST00000344441.6_Missense_Mutation_p.K1343T|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1343 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GAGAAGGTGAAGTCTGAATGC 0.378000 6 103 0 0 0.000274275 0 0 MUC16 94025 broad.mit.edu 37 19 9049003 9049003 + Silent SNP T T A TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr19:9049003T>A ENST00000397910.4 - 5 32831 c.32628A>T c.(32626-32628)ggA>ggT p.G10876G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10878 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGTCACTACTCCTGGTACCT 0.478000 14 110 0 0 0.000151284 0 0 FAM5C 0 broad.mit.edu 37 1 190129933 190129933 + Missense_Mutation SNP T T G TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr1:190129933T>G ENST00000367462.3 - 7 1280 c.1049A>C c.(1048-1050)aAt>aCt p.N350T FAM5C_ENST00000534846.1_Missense_Mutation_p.N248T|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 350 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCGCTGAAAATTAGAATCCAT 0.353000 4 134 0 0 0.000602214 0 0 TRPM5 29850 broad.mit.edu 37 11 2433483 2433483 + Splice_Site SNP C C G TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr11:2433483C>G ENST00000452833.1 - 16 2370 c.2361_splice c.e16-1 p.G788_splice TRPM5_ENST00000533060.1_Splice_Site_p.G786_splice|TRPM5_ENST00000155858.6_Splice_Site_p.G786_splice|TRPM5_ENST00000528453.1_Splice_Site_p.G786_splice Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 786 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GTGAAGAAGCCCTGGGAGGGA 0.562000 46 101 0 0 0.000781405 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661208 22661208 + RNA SNP C C T TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr22:22661208C>T ENST00000426066.1 + 0 300 NR_027293.1 CTGAATCATGCAGAATTTGAA 0.408000 13 27 0 0 0.000219431 0 0 ERGIC2 51290 broad.mit.edu 37 12 29509405 29509405 + Missense_Mutation SNP T T C TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr12:29509405T>C ENST00000360150.4 - 8 557 c.482A>G c.(481-483)gAt>gGt p.D161G NM_016570.2 NP_057654.2 Q96RQ1 ERGI2_HUMAN ERGIC and golgi 2 161 vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus p.D161A(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184) Arsenic trioxide(DB01169) TGATGAATCATCTTCTCTGTT 0.308000 4 76 0 0 0.00024832 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661362 22661362 + RNA SNP C C T TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr22:22661362C>T ENST00000426066.1 + 0 360 NR_027293.1 TGGGCAACAGCGAGGGAAATG 0.502000 5 49 0 0 3.59834e-05 0 0 TCF3 6929 broad.mit.edu 37 19 1627410 1627410 + Missense_Mutation SNP C C T TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr19:1627410C>T ENST00000262965.5 - 6 658 c.314G>A c.(313-315)cGg>cAg p.R105Q TCF3_ENST00000453954.2_Missense_Mutation_p.R21Q|TCF3_ENST00000395423.3_Missense_Mutation_p.R54Q|TCF3_ENST00000344749.5_Missense_Mutation_p.R105Q|TCF3_ENST00000588136.1_Missense_Mutation_p.R105Q NM_003200.3 NP_003191.1 P15923 TFE2_HUMAN transcription factor 3 105 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATAGGCGCCCCGCTCACCGCT 0.617000 T """PBX1, HLF, TFPT""" pre B-ALL 9 11 0 0 0.000442599 0 0 HLA-V 0 broad.mit.edu 37 6 29761774 29761774 + RNA SNP G G C TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr6:29761774G>C ENST00000457107.1 + 0 1000 tcctcagcaggattggtgcaa 0.542000 2 10 0 0 6.4e-05 0 0 KCNN3 3782 broad.mit.edu 37 1 154842331 154842333 + In_Frame_Del DEL TGC TGC - TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr1:154842331_154842333delTGC ENST00000271915.3 - 1 423_425 c.108_110delGCA c.(106-111)caa>ca p.QQ40del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 40 Poly-Gln. integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ctgctgctgttgctgctgctgct 0.670 3 6 --- --- --- --- BCL11A 53335 broad.mit.edu 37 2 60688968 60688969 + Frame_Shift_Ins INS - - G TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr2:60688968_60688969insG ENST00000335712.6 - 4 1305_1306 c.1078_1079insC c.(1078-1080)cccfs p.P360fs BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.P326fs|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.P360fs|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.P326fs NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 360 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CAGAGGAGGGAGGGGGGGCGTC 0.634 T IGH@ B-CLL 8 138 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 7 86 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679315 6679316 + RNA DEL CC CC - rs58387909 by1000genomes TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr8:6679315_6679316delCC ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) cacacacacaccccccacacac 0.406 5 7 --- --- --- --- TTC16 158248 broad.mit.edu 37 9 130487098 130487098 + Frame_Shift_Del DEL T T - TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr9:130487098delT ENST00000373289.3 + 9 1261 c.1181delT c.(1180-1182)cgfs p.L394fs TTC16_ENST00000393748.4_3'UTR|PTRH1_ENST00000429848.1_5'UTR|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000419060.1_5'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 394 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 GCGCTGGCGCTGAGCCCTCAG 0.682 15 14 --- --- --- --- RP11-1028N23.4 0 broad.mit.edu 37 12 116030327 116030327 + RNA DEL T T - TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr12:116030327delT ENST00000551940.1 - 0 343 ctccattttcTTTTTTTTTTT 0.473 2 4 --- --- --- ---