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 CRELD2 79174 broad.mit.edu 37 22 50316920 50316920 + Missense_Mutation SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr22:50316920G>A ENST00000404488.3 + 8 1009 c.874G>A c.(874-876)Gct>Act p.A292T CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000407217.3_Missense_Mutation_p.A243T|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000328268.4_Missense_Mutation_p.A243T NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 243 EGF-like 2; calcium-binding (Potential). endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) TCCCTGCAGCGCTGCGCAGTT 0.692000 14 26 0 0 1 0 0 PRKD2 25865 broad.mit.edu 37 19 47197153 47197153 + Missense_Mutation SNP C C A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr19:47197153C>A ENST00000433867.1 - 11 2032 c.1555G>T c.(1555-1557)Gcc>Tcc p.A519S PRKD2_ENST00000595515.1_Missense_Mutation_p.A519S|PRKD2_ENST00000600194.1_Missense_Mutation_p.A362S|PRKD2_ENST00000291281.4_Missense_Mutation_p.A519S|PRKD2_ENST00000601806.1_Missense_Mutation_p.A362S NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 519 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) TGGCCTGGGGCGCTGGGTGCG 0.672000 13 44 7.93312e-07 8.96788e-07 1 1 0 TTI1 9675 broad.mit.edu 37 20 36640810 36640810 + Missense_Mutation SNP C C T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr20:36640810C>T ENST00000373448.2 - 3 1647 c.1409G>A c.(1408-1410)cGc>cAc p.R470H TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.R470H|TTI1_ENST00000449821.1_Missense_Mutation_p.R470H NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 470 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 CCTCTGGATGCGGTTCCAAGG 0.463000 3 63 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106982994 106982994 + Missense_Mutation SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr10:106982994G>A ENST00000369701.3 + 20 3082 c.2855G>A c.(2854-2856)gGc>gAc p.G952D SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 952 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TGGTGGTTCGGCAATAGCACA 0.458000 5 196 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 140 0 0 1 0 0 NRSN2 80023 broad.mit.edu 37 20 333947 333947 + Missense_Mutation SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr20:333947G>A ENST00000382291.3 + 4 523 c.283G>A c.(283-285)Gag>Aag p.E95K NRSN2_ENST00000382285.2_Missense_Mutation_p.E95K|NRSN2_ENST00000492242.1_3'UTR NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 95 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) GGGCATCGGTGAGGGTGAGTT 0.652000 4 78 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25467500 25467500 + RNA SNP G G C TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr15:25467500G>C ENST00000453082.2 + 0 753 SNORD115-28_ENST00000363931.1_RNA NR_003343.1 GGTTGGGGTGGTGATGAGAAC 0.522000 84 195 0 0 1 0 0 FOXD4 2298 broad.mit.edu 37 9 117692 117692 + Missense_Mutation SNP C C T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr9:117692C>T ENST00000382500.2 - 1 725 c.428G>A c.(427-429)cGc>cAc p.R143H NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 143 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGGGAACTTGCGGCGGTAGTA 0.642000 6 371 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 882981 882981 + Missense_Mutation SNP G G T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr7:882981G>T ENST00000456758.2 + 8 656 c.656G>T c.(655-657)gGa>gTa p.G219V SUN1_ENST00000457378.2_Missense_Mutation_p.G182V|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Missense_Mutation_p.G161V|SUN1_ENST00000425407.2_Missense_Mutation_p.G111V|SUN1_ENST00000389574.3_Missense_Mutation_p.G111V|SUN1_ENST00000405266.1_Missense_Mutation_p.G161V|SUN1_ENST00000403868.1_Missense_Mutation_p.G161V O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 161 SYNE2-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACTTTAGGTGGAAATAAAGCT 0.468000 11 133 3.07112e-06 3.32704e-06 1 1 0 WDR63 126820 broad.mit.edu 37 1 85547042 85547042 + Missense_Mutation SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr1:85547042G>A ENST00000294664.6 + 4 409 c.229G>A c.(229-231)Gac>Aac p.D77N WDR63_ENST00000370596.1_Missense_Mutation_p.D77N|WDR63_ENST00000326813.8_Missense_Mutation_p.D77N NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 77 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CATTTTTGAGGACCTGCGCAA 0.378000 21 34 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 70 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141708443 141708443 + Nonsense_Mutation SNP G G T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr7:141708443G>T ENST00000475668.2 + 3 319 c.265G>T c.(265-267)Gaa>Taa p.E89* MGAM_ENST00000549489.2_Nonsense_Mutation_p.E89* O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 89 P-type 1. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGTTTCTGCTGAATGTCCAGT 0.448000 7 54 2.52707e-12 2.98654e-12 1 1 0 ODAM 54959 broad.mit.edu 37 4 71062416 71062416 + Missense_Mutation SNP C C G TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr4:71062416C>G ENST00000396094.2 + 2 107 c.59C>G c.(58-60)cCa>cGa p.P20R NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 20 biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 TAGCTTATCCCACAGCGTCTC 0.333000 9 85 0 0 1 0 0 FAM86JP 100125556 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 5 152 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304896 102304896 + RNA SNP C C G rs145942024 by1000genomes TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr15:102304896C>G ENST00000561463.1 + 0 12942 GAAGACACTCCTGGAGGAGTC 0.562000 3 26 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47041446 47041446 + Translation_Start_Site SNP A A T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr3:47041446A>T ENST00000383740.2 + 0 4036 NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000450053.3_Missense_Mutation_p.D1286V Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GGCTGGCAAGATGTGCTGACC 0.632000 10 30 0 0 1 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180979 142180979 + RNA SNP C C T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr7:142180979C>T ENST00000390368.2 - 0 37 GAGGGGTCTTCTGTATCTGTG 0.602000 4 40 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 6 27 0 0 1 0 0 HEPN1 641654 broad.mit.edu 37 11 124789688 124789688 + Silent SNP C C T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr11:124789688C>T ENST00000408930.5 + 1 543 c.42C>T c.(40-42)ggC>ggT p.G14G HEPACAM_ENST00000298251.4_3'UTR NM_001037558.2 NP_001032647.2 Q6WQI6 HEPN1_HUMAN hepatocellular carcinoma, down-regulated 1 14 cytoplasm large_intestine(1)|lung(1)|stomach(1) 3 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287) GGGTTGATGGCGAATCAGAGC 0.512000 8 45 0 0 1 0 0 FAM86JP 100125556 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 6 154 0 0 1 0 0 ING3 54556 broad.mit.edu 37 7 120607662 120607662 + Silent SNP A A G TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr7:120607662A>G ENST00000315870.5 + 7 664 c.516A>G c.(514-516)ctA>ctG p.L172L ING3_ENST00000431467.1_Silent_p.L157L NM_019071.2 NP_061944.2 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 172 histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12 all_neural(327;0.117) AAGCTCTTCTATCCACCCTTA 0.303000 51 146 0 0 1 0 0 LDLRAD2 401944 broad.mit.edu 37 1 22142457 22142457 + Missense_Mutation SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr1:22142457G>A ENST00000344642.2 + 3 720 c.533G>A c.(532-534)cGc>cAc p.R178H LDLRAD2_ENST00000543870.1_Missense_Mutation_p.R178H NM_001013693.2 NP_001013715.2 Q5SZI1 LRAD2_HUMAN low density lipoprotein receptor class A domain containing 2 178 LDL-receptor class A. integral to membrane receptor activity endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) GCCTACTTCCGCTGCCAGAAT 0.622000 4 44 0 0 1 0 0 ZNF773 374928 broad.mit.edu 37 19 58016080 58016080 + Missense_Mutation SNP G G T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr19:58016080G>T ENST00000599847.1 + 2 231 c.89G>T c.(88-90)aGa>aTa p.R30I ZNF773_ENST00000282292.4_Missense_Mutation_p.R30I|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000593916.1_Missense_Mutation_p.R29I|ZNF773_ENST00000598770.1_Missense_Mutation_p.R29I Q6PK81 ZN773_HUMAN zinc finger protein 773 30 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) GAGGAATGGAGATTGCTTGAT 0.532000 5 125 0.184627 0.184627 1 1 0 OR7E62P 26479 broad.mit.edu 37 2 71283122 71283123 + RNA INS - - T rs35074164 TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr2:71283122_71283123insT ENST00000434990.1 - 0 61 GGCACCACCCCCAGGAGTGGTG 0.530 7 4 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48866909 48866910 + Frame_Shift_Ins INS - - T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr8:48866909_48866910insT ENST00000314191.2 - 5 552_553 c.496_497insA c.(496-498)accfs p.T166fs PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.T166fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 166 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGTATCTGGTATTTTTTTTTTC 0.267 Non-homologous end-joining 2 4 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65493617 65493618 + In_Frame_Ins INS - - GGC TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr8:65493617_65493618insGGC ENST00000321870.1 + 1 804_805 c.270_271insGGC c.(268-273)aggcgg>agGGCgcgg p.90_91RR>RAR RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 90 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 gcgcgggaagtggcggcggcgg 0.782 2 4 --- --- --- --- TRAV9-1 28678 broad.mit.edu 37 14 22279845 22279846 + RNA INS - - T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr14:22279845_22279846insT ENST00000390431.3 + 0 46 TAATTTGTTTATTTTTTTTTCA 0.406 4 8 --- --- --- --- SREBF1 6720 broad.mit.edu 37 17 17720609 17720609 + Frame_Shift_Del DEL G G - TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr17:17720609delG ENST00000355815.4 - 9 1826 c.1657delC c.(1657-1659)atfs p.H553fs SREBF1_ENST00000338854.5_Frame_Shift_Del_p.H523fs|SREBF1_ENST00000395757.1_Frame_Shift_Del_p.H269fs|SREBF1_ENST00000261646.5_Frame_Shift_Del_p.H523fs NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 523 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 CCAGGGCTATGGTAGACGCTG 0.677 3 3 --- --- --- ---