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 NEUROG2 63973 broad.mit.edu 37 4 113436004 113436004 + Missense_Mutation SNP G G A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr4:113436004G>A ENST00000313341.3 - 2 954 c.628C>T c.(628-630)Ccc>Tcc p.P210S NM_024019.3 NP_076924.1 Q9H2A3 NGN2_HUMAN neurogenin 2 210 Ser-rich. positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2) 12 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) GTGGAGGCGGGCGAGGGGCTG 0.721000 11 10 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73040894 73040894 + RNA SNP T T G TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chrX:73040894T>G ENST00000604411.1 + 0 28855 XIST_ENST00000429829.1_lincRNA NR_003255.2 AGTTACTTTCTTCTTTCCATT 0.368000 21 10 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 3 42 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49735489 49735489 + Silent SNP A A G TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr3:49735489A>G ENST00000327697.6 + 7 546 c.402A>G c.(400-402)aaA>aaG p.K134K RNF123_ENST00000432042.1_5'UTR NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 134 B30.2/SPRY. cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) TTCCAGGGAAATGGCTCTACG 0.582000 28 55 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198267483 198267483 + Missense_Mutation SNP C C T TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr2:198267483C>T ENST00000335508.5 - 14 1965 c.1874G>A c.(1873-1875)cGt>cAt p.R625H NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 625 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.R625L(9)|p.R625P(2)|p.R625H(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGTTGTGTTACGGACATACTC 0.438000 Mis myelodysplastic syndrome 22 25 0 0 1 0 0 NUDT22 84304 broad.mit.edu 37 11 63995065 63995065 + Missense_Mutation SNP A A C TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr11:63995065A>C ENST00000279206.3 + 3 662 c.506A>C c.(505-507)cAg>cCg p.Q169P NUDT22_ENST00000441250.2_Intron NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720.1 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 169 Nudix hydrolase. hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 GGCAGCCCCCAGCACCAGGAC 0.617000 24 37 0 0 1 0 0 STAP1 26228 broad.mit.edu 37 4 68424566 68424566 + Silent SNP G G A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr4:68424566G>A ENST00000265404.2 + 1 121 c.39G>A c.(37-39)agG>agA p.R13R STAP1_ENST00000396225.1_Silent_p.R13R NM_012108.2 NP_036240.1 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 13 cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 CCCCTCGCAGGATCTTCCAGG 0.428000 42 42 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57719755 57719755 + Missense_Mutation SNP T T G TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr16:57719755T>G ENST00000333493.4 + 11 1618 c.1457T>G c.(1456-1458)gTg>gGg p.V486G GPR97_ENST00000450388.3_Missense_Mutation_p.V366G|GPR97_ENST00000327655.6_Missense_Mutation_p.V276G|RP11-405F3.4_ENST00000563062.1_RNA NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 486 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TCGAGCCTGGTGGGTGTGACA 0.602000 27 33 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153583052 153583052 + Nonsense_Mutation SNP G G A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chrX:153583052G>A ENST00000422373.1 - 31 5469 c.5221C>T c.(5221-5223)Cag>Tag p.Q1741* FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Nonsense_Mutation_p.Q1741*|FLNA_ENST00000344736.4_Intron|FLNA_ENST00000369850.3_Nonsense_Mutation_p.Q1749* NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1749 Hinge 1. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGAGGGGGCTGCACCGAGGGC 0.677000 3 14 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135984119 135984119 + Missense_Mutation SNP C C T TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr9:135984119C>T ENST00000393160.3 - 5 907 c.554G>A c.(553-555)cGt>cAt p.R185H RALGDS_ENST00000372050.3_Missense_Mutation_p.R240H|RALGDS_ENST00000542690.1_Missense_Mutation_p.R311H|RALGDS_ENST00000372062.3_Missense_Mutation_p.R211H|RALGDS_ENST00000393157.3_Missense_Mutation_p.R239H|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.R228H NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 240 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) AAGGTGGGCACGGCGCTCCAG 0.622000 T CIITA """PMBL, Hodgkin Lymphona, """ 3 51 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3103971 3103971 + Nonsense_Mutation SNP G G A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr12:3103971G>A ENST00000359864.2 + 3 229 c.39G>A c.(37-39)tgG>tgA p.W13* TEAD4_ENST00000358409.2_Nonsense_Mutation_p.W13*|TEAD4_ENST00000397122.2_Intron NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 13 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CCAACGAGTGGAGCTCTCCCA 0.662000 36 38 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135287507 135287507 + Missense_Mutation SNP C C T TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr6:135287507C>T ENST00000367837.5 - 17 2209 c.2003G>A c.(2002-2004)cGt>cAt p.R668H HBS1L_ENST00000367824.4_Missense_Mutation_p.R504H|HBS1L_ENST00000415177.2_Missense_Mutation_p.R603H|HBS1L_ENST00000445176.2_Missense_Mutation_p.R392H|HBS1L_ENST00000367826.2_Missense_Mutation_p.R626H|HBS1L_ENST00000527578.1_Missense_Mutation_p.R504H NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 668 signal transduction GTP binding|GTPase activity|translation elongation factor activity p.R668P(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) ACCACCGTAACGTAGCATGAA 0.378000 41 34 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24723923 24723923 + Missense_Mutation SNP C C T TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr14:24723923C>T ENST00000206765.6 - 13 2158 c.2035G>A c.(2035-2037)Gtg>Atg p.V679M TGM1_ENST00000544573.1_Missense_Mutation_p.V237M NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 679 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) TTGGCCAGCACCTGCCCGCTC 0.617000 17 42 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114123222 114123222 + Silent SNP C C T rs141978579 byFrequency TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr1:114123222C>T ENST00000369615.1 + 3 554 c.492C>T c.(490-492)tcC>tcT p.S164S MAGI3_ENST00000307546.9_Silent_p.S164S|MAGI3_ENST00000486456.1_3'UTR|MAGI3_ENST00000369617.4_Silent_p.S164S|MAGI3_ENST00000369611.4_Silent_p.S164S NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 164 Guanylate kinase-like. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTTCATTTCCGTTGAACAGT 0.393000 9 72 0 0 1 0 0 GNAQ 2776 broad.mit.edu 37 9 80409488 80409488 + Missense_Mutation SNP T T G rs121913492 TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr9:80409488T>G ENST00000286548.4 - 5 848 c.626A>C c.(625-627)cAa>cCa p.Q209P GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 209 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1) NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 CTCTGACCTTTGGCCCCCTAC 0.348000 Mis uveal melanoma 17 20 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134146968 134146968 + Missense_Mutation SNP C C T TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr8:134146968C>T ENST00000220616.4 + 48 8277 c.8237C>T c.(8236-8238)aCg>aTg p.T2746M TG_ENST00000377869.1_Missense_Mutation_p.T2689M|TG_ENST00000519543.1_Missense_Mutation_p.T879M|TG_ENST00000542445.1_Missense_Mutation_p.T1116M NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2746 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAGGAGTTGACGGCTGGATCT 0.547000 9 20 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108384832 108384832 + Nonsense_Mutation SNP G G A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr11:108384832G>A ENST00000265843.4 - 6 1512 c.1402C>T c.(1402-1404)Cga>Tga p.R468* EXPH5_ENST00000525344.1_Nonsense_Mutation_p.R461*|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Nonsense_Mutation_p.R392*|EXPH5_ENST00000443411.1_Nonsense_Mutation_p.R280* NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 468 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TCTCCGCTTCGTCCAAAGGTA 0.438000 45 62 0 0 1 0 0 AFTPH 54812 broad.mit.edu 37 2 64778732 64778732 + Missense_Mutation SNP G G A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr2:64778732G>A ENST00000422803.1 + 2 438 c.124G>A c.(124-126)Gta>Ata p.V42I AFTPH_ENST00000409933.1_Missense_Mutation_p.V42I|AFTPH_ENST00000238856.4_Missense_Mutation_p.V42I|AFTPH_ENST00000238855.7_Missense_Mutation_p.V42I Q6ULP2 AFTIN_HUMAN aftiphilin 42 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 CCCTTCTGGTGTAGGGTTTGT 0.408000 5 116 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 61 0 0 1 0 0 AMELX 265 broad.mit.edu 37 X 11316686 11316686 + Missense_Mutation SNP G G C TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chrX:11316686G>C ENST00000380712.3 + 6 273 c.205G>C c.(205-207)Gag>Cag p.E69Q ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.E55Q|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.E39Q|ARHGAP6_ENST00000380736.1_Intron NM_182680.1 NP_872621.1 Q99217 AMELX_HUMAN amelogenin, X-linked 55 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 CTATGGTTACGAGCCCATGGG 0.547000 56 53 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886445 57886445 + Silent SNP G G A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr11:57886445G>A ENST00000302610.1 - 1 471 c.472C>T c.(472-474)Ctg>Ttg p.L158L OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GTGGTACGCAGGATGGCTCCT 0.547000 15 20 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14284600 14284600 + RNA DEL A A - rs79477301 TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr11:14284600delA ENST00000310358.7 + 0 2795 RP11-21L19.1_ENST00000534587.1_RNA 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) GGACCTGTTTaaaaaaaaaaa 0.463 5 8 --- --- --- --- PEAK1 79834 broad.mit.edu 37 15 77472300 77472300 + Frame_Shift_Del DEL T T - TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr15:77472300delT ENST00000560626.2 - 4 2444 c.1969delA c.(1969-1971)ccfs p.T658fs PEAK1_ENST00000312493.4_Frame_Shift_Del_p.T658fs|PEAK1_ENST00000558305.1_Frame_Shift_Del_p.T658fs Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 658 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ACACTTGTGGTTTTTTCCTTC 0.363 31 72 --- --- --- --- LOC101927755 101927755 broad.mit.edu 37 17 58050841 58050841 + RNA DEL T T - rs74362551 TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr17:58050841delT ENST00000586209.1 + 0 158 acagggtttcTTTTTTTTTTT 0.413 5 10 --- --- --- ---