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 GPATCH4 54865 broad.mit.edu 37 1 156565214 156565214 + Missense_Mutation SNP T T C TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr1:156565214T>C ENST00000368232.4 - 8 1036 c.904A>G c.(904-906)Aag>Gag p.K302E GPATCH4_ENST00000438976.2_Missense_Mutation_p.K307E NM_015590.3|NM_182679.2 NP_056405.2|NP_872620.1 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 302 intracellular nucleic acid binding autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1) 17 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACCCCCATCTTCTCCTCTTCA 0.537 25 172 --- --- --- --- FCGR2A 2212 broad.mit.edu 37 1 161479821 161479821 + Silent SNP C C A TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr1:161479821C>A ENST00000271450.6 + 4 614 c.576C>A c.(574-576)ggC>ggA p.G192G FCGR2A_ENST00000367972.4_Silent_p.G191G NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 192 Ig-like C2-type 2. integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GAAACATAGGCTACACGCTGT 0.512 12 89 --- --- --- --- ZAP70 7535 broad.mit.edu 37 2 98351131 98351131 + Silent SNP C C T TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr2:98351131C>T ENST00000264972.5 + 9 1253 c.1038C>T c.(1036-1038)tgC>tgT p.C346C ZAP70_ENST00000442208.1_Silent_p.C220C|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.C39C NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 346 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 AACTTGGCTGCGGCAACTTTG 0.627 35 136 --- --- --- --- EPB41L5 57669 broad.mit.edu 37 2 120918486 120918486 + Missense_Mutation SNP T T C TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr2:120918486T>C ENST00000263713.5 + 21 2037 c.1823T>C c.(1822-1824)cTc>cCc p.L608P EPB41L5_ENST00000443902.2_Missense_Mutation_p.L608P|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L608P|EPB41L5_ENST00000488691.1_3'UTR NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 608 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 AATGTGCCCCTCCCCAAAGAG 0.393 3 167 --- --- --- --- USP37 57695 broad.mit.edu 37 2 219353074 219353074 + Missense_Mutation SNP G G T TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr2:219353074G>T ENST00000258399.3 - 15 1955 c.1543C>A c.(1543-1545)Cca>Aca p.P515T USP37_ENST00000454775.1_Missense_Mutation_p.P515T|USP37_ENST00000418019.1_Missense_Mutation_p.P515T|USP37_ENST00000415516.1_Missense_Mutation_p.P443T NM_020935.2 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 515 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) GGAGGGAGTGGTTTTTTCCTA 0.323 8 85 --- --- --- --- SCN10A 6336 broad.mit.edu 37 3 38766807 38766807 + Splice_Site SNP T T C TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr3:38766807T>C ENST00000449082.2 - 17 3087 c.e17-2 NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CTGCTCCTGCTAGTGAGAGAG 0.582 7 28 --- --- --- --- DNAJC13 23317 broad.mit.edu 37 3 132196839 132196839 + Missense_Mutation SNP A A G TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr3:132196839A>G ENST00000260818.6 + 24 2812 c.2564A>G c.(2563-2565)aAt>aGt p.N855S NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 855 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 GAATTTTTCAATGAGCTTTAT 0.343 5 25 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146058891 146058891 + Silent SNP A A C TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr4:146058891A>C ENST00000454497.2 - 21 2978 c.2841T>G c.(2839-2841)gtT>gtG p.V947V OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.V1012V NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 1011 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CTCTGCTATCAACAGAGTTGG 0.388 3 166 --- --- --- --- SNRPC 6631 broad.mit.edu 37 6 34738121 34738121 + Missense_Mutation SNP A A T TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr6:34738121A>T ENST00000374017.3 + 4 654 c.367A>T c.(367-369)Atg>Ttg p.M123L SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000374018.1_Missense_Mutation_p.M61L|SNRPC_ENST00000244520.5_Missense_Mutation_p.M102L P09234 RU1C_HUMAN small nuclear ribonucleoprotein polypeptide C 102 spliceosomal snRNP assembly Cajal body|U1 snRNP protein homodimerization activity|single-stranded RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 6 GGGCCCTCCCATGATGCCAAT 0.502 16 90 --- --- --- --- MRPL2 51069 broad.mit.edu 37 6 43023654 43023654 + Silent SNP G G A TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr6:43023654G>A ENST00000388752.3 - 5 1036 c.612C>T c.(610-612)gcC>gcT p.A204A MRPL2_ENST00000230413.5_Silent_p.A204A|MRPL2_ENST00000489623.1_Intron NM_015950.3 NP_057034.2 Q5T653 RM02_HUMAN mitochondrial ribosomal protein L2 204 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2) 9 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) GGATATATTGGGCACCCCGGC 0.557 5 50 --- --- --- --- DST 667 broad.mit.edu 37 6 56470845 56470845 + Missense_Mutation SNP C C G TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr6:56470845C>G ENST00000370754.5 - 39 8481 c.8482G>C c.(8482-8484)Gat>Cat p.D2828H DST_ENST00000312431.6_Missense_Mutation_p.D2650H|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.D2650H|DST_ENST00000361203.3_Missense_Mutation_p.D2650H|DST_ENST00000446842.2_Missense_Mutation_p.D2324H|DST_ENST00000244364.6_Intron Q03001 DYST_HUMAN dystonin 2650 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGCATTTTATCCAGAAGAATC 0.328 7 64 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61777895 61777895 + Missense_Mutation SNP G G A TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr8:61777895G>A ENST00000423902.2 + 38 8876 c.8397G>A c.(8395-8397)atG>atA p.M2799I CHD7_ENST00000524602.1_Missense_Mutation_p.M750I NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2799 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TGCCCCTGATGCTGCCAGGAA 0.622 3 14 --- --- --- --- CDH23 64072 broad.mit.edu 37 10 73574941 73574941 + Missense_Mutation SNP A A C TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr10:73574941A>C ENST00000224721.6 + 69 9991 c.9986A>C c.(9985-9987)gAg>gCg p.E3329A CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.E1084A NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 3324 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ACTGCCTTCGAGCGCAACGCC 0.642 4 16 --- --- --- --- NUP107 57122 broad.mit.edu 37 12 69085781 69085781 + Missense_Mutation SNP G G T TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr12:69085781G>T ENST00000229179.4 + 5 669 c.337G>T c.(337-339)Gca>Tca p.A113S NUP107_ENST00000539906.1_Missense_Mutation_p.A84S|NUP107_ENST00000378905.2_Intron NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 113 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) CTGGGCAGCTGCATTTTCATC 0.393 6 42 --- --- --- --- HECTD4 283450 broad.mit.edu 37 12 112673539 112673539 + Missense_Mutation SNP G G A TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr12:112673539G>A ENST00000550722.1 - 36 5451 c.5056C>T c.(5056-5058)Ctc>Ttc p.L1686F HECTD4_ENST00000430131.2_Missense_Mutation_p.L1410F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L1660F NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AGGGAGAGGAGTTTGGACACA 0.522 4 20 --- --- --- --- KIAA0226L 80183 broad.mit.edu 37 13 46918950 46918950 + Missense_Mutation SNP C C A TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr13:46918950C>A ENST00000429979.1 - 14 2406 c.1802G>T c.(1801-1803)gGc>gTc p.G601V KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G444V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G444V|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G601V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G534V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G466V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A550S|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A550S|KIAA0226L_ENST00000378781.3_3'UTR NM_025113.2 NP_079389.2 Q9H714 CM018_HUMAN KIAA0226-like 601 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 ACAAATAAAGCCCTTTCCTTG 0.338 3 25 --- --- --- --- SLC7A8 23428 broad.mit.edu 37 14 23652104 23652104 + Missense_Mutation SNP T T C TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr14:23652104T>C ENST00000316902.7 - 1 745 c.20A>G c.(19-21)cAc>cGc p.H7R SLC7A8_ENST00000469263.1_Missense_Mutation_p.H7R NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 7 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) GTTGTTTCGGTGCCTGGCTCC 0.537 6 186 --- --- --- --- SLC16A13 201232 broad.mit.edu 37 17 6941915 6941915 + Missense_Mutation SNP T T A TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr17:6941915T>A ENST00000308027.6 + 3 1096 c.788T>A c.(787-789)cTc>cAc p.L263H NM_201566.2 NP_963860.1 Q7RTY0 MOT13_HUMAN solute carrier family 16, member 13 263 integral to membrane|plasma membrane symporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 ATTTCTGACCTCGTGGGGCGT 0.587 12 123 --- --- --- --- ZNF146 7705 broad.mit.edu 37 19 36728180 36728180 + Nonsense_Mutation SNP A A T TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr19:36728180A>T ENST00000456324.1 + 3 2287 c.838A>T c.(838-840)Aag>Tag p.K280* ZNF146_ENST00000443387.2_Nonsense_Mutation_p.K280*|ZNF565_ENST00000355114.5_Intron NM_001099638.1|NM_001099639.1 NP_001093108.1|NP_001093109.1 Q15072 OZF_HUMAN zinc finger protein 146 280 Interaction with TERF2IP. regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Esophageal squamous(110;0.162) TTTCAGCCAGAAGTCACACCA 0.413 5 44 --- --- --- --- FRMD7 90167 broad.mit.edu 37 X 131212858 131212858 + Missense_Mutation SNP G G T TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chrX:131212858G>T ENST00000298542.4 - 12 1362 c.1187C>A c.(1186-1188)tCc>tAc p.S396Y FRMD7_ENST00000464296.1_Missense_Mutation_p.S381Y|FRMD7_ENST00000370879.1_Missense_Mutation_p.S276Y NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 396 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) CTCTGGTTTGGAatgctccag 0.478 40 100 --- --- --- --- HIST1H2BG 8339 broad.mit.edu 37 6 26216686 26216706 + In_Frame_Del DEL GATGCCCATGGCCTTGGATGA GATGCCCATGGCCTTGGATGA - rs140919872 byFrequency TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr6:26216686_26216706delGATGCCCATGGCCTTGGATGA ENST00000244601.3 - 1 166_186 c.166_186delTCATCCAAGGCCATGGGCATC c.(166-186)tcatccaaggccatgggcatcdel p.SSKAMGI56del NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1, H2bg 56 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(11;0.196) AGGAATTCATGATGCCCATGGCCTTGGATGAGATGCCAGTA 0.538 12 228 --- --- --- --- PCID2 55795 broad.mit.edu 37 13 113854766 113854766 + Frame_Shift_Del DEL G G - TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr13:113854766delG ENST00000375457.2 - 2 691 c.95delC c.(94-96)cctfs p.P32fs PCID2_ENST00000375459.1_Frame_Shift_Del_p.P32fs|PCID2_ENST00000246505.5_Frame_Shift_Del_p.P34fs|PCID2_ENST00000337344.4_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375479.2_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375477.1_Frame_Shift_Del_p.P34fs NM_001258213.1 NP_001245142.1 Q5JVF3 PCID2_HUMAN PCI domain containing 2 34 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) TGCAACATGAGGATGTTTAAA 0.443 35 93 --- --- --- --- RNF31 55072 broad.mit.edu 37 14 24619808 24619809 + Splice_Site INS - - G TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c977d3c1-60f0-4987-b74d-d523a17f3784 00d07ccd-92c1-4e36-9ccc-4dae23baa878 g.chr14:24619808_24619809insG ENST00000324103.6 + 8 1519_1520 c.1199_1200insG c.(1198-1203)cagggg>caGgggg p.QG400fs RNF31_ENST00000559275.1_Splice_Site_p.QG249fs|RNF31_ENST00000382687.3_Splice_Site_p.QG249fs NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 400 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) CCTTCCCAGCAGGGGGATGCTT 0.520 51 382 --- --- --- ---