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 TMEM100 55273 broad.mit.edu 37 17 53798052 53798052 + Missense_Mutation SNP G G T TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr17:53798052G>T ENST00000575734.1 - 4 1188 c.380C>A c.(379-381)gCa>gAa p.A127E TMEM100_ENST00000424486.2_Missense_Mutation_p.A127E NM_001099640.1 NP_001093110.1 Q9NV29 TM100_HUMAN transmembrane protein 100 127 integral to membrane cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 11 TCTCTGATTTGCCACGAGAGC 0.483000 20 101 1.96292e-10 2.22465e-10 1 1 0 BRIX1 55299 broad.mit.edu 37 5 34923115 34923115 + Missense_Mutation SNP G G A TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr5:34923115G>A ENST00000336767.5 + 7 883 c.520G>A c.(520-522)Gaa>Aaa p.E174K BRIX1_ENST00000506023.1_3'UTR NM_018321.3 NP_060791.3 Q8TDN6 BRX1_HUMAN BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) 174 Brix. ribosome biogenesis|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(1)|large_intestine(2)|lung(1) 4 GGCTTTTGATGAATTACCACA 0.279000 44 85 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903597 5903597 + Silent SNP T T C TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr20:5903597T>C ENST00000378961.4 + 4 1011 c.807T>C c.(805-807)gaT>gaC p.D269D NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 269 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GTGAGGAAGATGCCACCTCTG 0.612000 8 18 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 3 30 0 0 1 0 0 EXT2 2132 broad.mit.edu 37 11 44193165 44193165 + Missense_Mutation SNP G G A rs138187791 byFrequency TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr11:44193165G>A ENST00000395673.3 + 8 1333 c.1277G>A c.(1276-1278)cGg>cAg p.R426Q EXT2_ENST00000358681.4_Intron|EXT2_ENST00000343631.3_Missense_Mutation_p.R393Q|EXT2_ENST00000533608.1_Missense_Mutation_p.R393Q NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 393 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 TTATAGGCCCGGTGGTTCTGG 0.448000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 6 110 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175673728 175673728 + Missense_Mutation SNP A A G TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr2:175673728A>G ENST00000409900.3 - 11 1320 c.1007T>C c.(1006-1008)aTc>aCc p.I336T CHN1_ENST00000409597.1_Missense_Mutation_p.I152T|CHN1_ENST00000409156.3_Missense_Mutation_p.I310T|CHN1_ENST00000295497.7_Missense_Mutation_p.I211T|CHN1_ENST00000488080.1_5'UTR NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 336 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) GATAATGTTGATATCTTCATA 0.348000 T TAF15 extraskeletal myxoid chondrosarcoma 21 117 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118960781 118960781 + Missense_Mutation SNP C C T TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr10:118960781C>T ENST00000334549.1 + 2 335 c.335C>T c.(334-336)aCg>aTg p.T112M NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 112 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) TTCTGCTGCACGGTGTTCAGC 0.562000 31 61 0 0 1 0 0 SCAF8 22828 broad.mit.edu 37 6 155145452 155145452 + Missense_Mutation SNP A A G TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr6:155145452A>G ENST00000367178.3 + 17 2587 c.2011A>G c.(2011-2013)Agt>Ggt p.S671G SCAF8_ENST00000417268.1_Missense_Mutation_p.S671G|SCAF8_ENST00000367186.4_Missense_Mutation_p.S737G NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 671 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 TCCTGGATTCAGTCCAATCCC 0.443000 67 88 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328594 57328594 + Missense_Mutation SNP C C T TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr19:57328594C>T ENST00000326441.9 - 10 1579 c.1216G>A c.(1216-1218)Gat>Aat p.D406N ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D280N|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D282N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D406N NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 406 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCTTTTTGATCGTGAATCGAG 0.488000 8 140 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 3 34 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167051707 167051707 + Missense_Mutation SNP C C T TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr3:167051707C>T ENST00000392766.2 - 10 935 c.595G>A c.(595-597)Gat>Aat p.D199N ZBBX_ENST00000307529.5_Missense_Mutation_p.D199N|ZBBX_ENST00000455345.2_Missense_Mutation_p.D199N|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.D170N|ZBBX_ENST00000392767.2_Missense_Mutation_p.D199N NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 199 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTGGGTTCATCTGGATTAACA 0.338000 26 31 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593326 1593326 + RNA SNP G G A rs6872202 by1000genomes TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr5:1593326G>A ENST00000436493.2 - 0 299 ACCATGTACCGAGGCACAGGC 0.582000 4 50 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145365372 145365372 + Missense_Mutation SNP C C G rs4126496 TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr1:145365372C>G ENST00000342960.5 + 80 10032 c.9997C>G c.(9997-9999)Ctt>Gtt p.L3333V NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3333 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTCAGGTTGTCTTGAACTGTG 0.488000 5 54 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 38 46 0 0 1 0 0 CIAO1 9391 broad.mit.edu 37 2 96933105 96933105 + Silent SNP C C T TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr2:96933105C>T ENST00000488633.1 + 2 405 c.186C>T c.(184-186)cgC>cgT p.R62R CIAO1_ENST00000469320.1_3'UTR NM_004804.2 NP_004795.1 O76071 CIAO1_HUMAN cytosolic iron-sulfur protein assembly 1 62 chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 5 GCCACCAGCGCACCGTGCGGA 0.577000 58 112 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 34 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 23 0.00024832 0.000272351 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 27 0 0 1 0 0 RP11-553L6.2 0 broad.mit.edu 37 3 113951738 113951739 + RNA INS - - C rs60004852 by1000genomes TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr3:113951738_113951739insC ENST00000493033.1 + 0 160 RP11-553L6.2_ENST00000481773.1_RNA ACTGCCCCCTGCCCCCCCCCCA 0.653 3 4 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 5 11 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 7 254 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 16 33 --- --- --- --- STAG3L4 0 broad.mit.edu 37 7 66772494 66772495 + RNA INS - - T rs113583073 TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr7:66772494_66772495insT ENST00000416602.2 + 0 362 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) TGCTTGATTCCTTTTTTTTTTT 0.426 5 4 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 7 5 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14101781 14101782 + RNA INS - - T rs72219431 TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr11:14101781_14101782insT ENST00000310358.7 + 0 1211 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TAttttttttcttttttttttt 0.441 2 4 --- --- --- --- ESRRAP2 0 broad.mit.edu 37 13 21835723 21835728 + RNA DEL GGCGAG GGCGAG - TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr13:21835723_21835728delGGCGAG ENST00000427890.1 + 0 61 GATGGACTGAGGCGAGGGGTGGGACT 0.646 3 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085613 11085614 + RNA INS - - TAT rs149269232 by1000genomes TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr21:11085613_11085614insTAT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) accactaccaccaccaccacca 0.599 2 4 --- --- --- --- CARD10 29775 broad.mit.edu 37 22 37900249 37900250 + Frame_Shift_Del DEL GG GG - TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr22:37900249_37900250delGG ENST00000403299.1 - 10 1793_1794 c.1577_1578delCC c.(1576-1578)cfs p.P526fs CARD10_ENST00000251973.5_Frame_Shift_Del_p.P526fs|CARD10_ENST00000406271.3_Frame_Shift_Del_p.P240fs Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 526 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) AGCCGGCACTGGGGGGGAAGGG 0.644 2 4 --- --- --- ---