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 MSC 9242 broad.mit.edu 37 8 72756371 72756371 + Missense_Mutation SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr8:72756371G>A ENST00000325509.4 - 1 332 c.43C>T c.(43-45)Cgg>Tgg p.R15W RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000524152.1_Intron NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin 15 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.R15W(1) endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) TGCAGCCCCCGAAGCTCCATC 0.692000 4 21 0 0 0.150653 0 0 SLC13A5 284111 broad.mit.edu 37 17 6597493 6597493 + Missense_Mutation SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr17:6597493G>A ENST00000433363.2 - 8 1312 c.1079C>T c.(1078-1080)gCc>gTc p.A360V SLC13A5_ENST00000293800.6_Missense_Mutation_p.A343V|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A360V|SLC13A5_ENST00000381074.4_Missense_Mutation_p.A317V NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 360 integral to membrane citrate transmembrane transporter activity p.A360V(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 CACAAAGATGGCCACAGTGGC 0.522000 6 28 0 0 0.248553 0 0 CDKN2AIPNL 91368 broad.mit.edu 37 5 133747428 133747428 + Missense_Mutation SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr5:133747428G>A ENST00000458198.2 - 1 161 c.118C>T c.(118-120)Cgc>Tgc p.R40C CDKN2AIPNL_ENST00000395009.3_Missense_Mutation_p.R40C NM_080656.2 NP_542387.1 Q96HQ2 C2AIL_HUMAN CDKN2A interacting protein N-terminal like 40 p.R40C(1) central_nervous_system(1)|kidney(2)|prostate(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AATTCCATGCGGGCCTTCCAT 0.677000 OREG0016789 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 32 0 0 0.115264 0 0 NPEPL1 79716 broad.mit.edu 37 20 57290253 57290253 + Silent SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr20:57290253C>T ENST00000356091.6 + 12 1731 c.1443C>T c.(1441-1443)gcC>gcT p.A481A STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Silent_p.A453A|NPEPL1_ENST00000525817.1_Silent_p.A433A NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 481 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity p.A481A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) TCGGTGTGGCCCTCCTGCTGG 0.672000 5 9 0 0 0.184627 0 0 SCN7A 6332 broad.mit.edu 37 2 167262388 167262388 + Missense_Mutation SNP C C A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr2:167262388C>A ENST00000409855.1 - 25 4877 c.4751G>T c.(4750-4752)aGa>aTa p.R1584I NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1584 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1584I(3) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ACCCATAACTCTCTTTGTAAA 0.428000 51 357 2.31418e-15 3.00844e-15 0.870114 1 0 RP11-262H14.1 0 broad.mit.edu 37 9 66466226 66466226 + RNA SNP A A G TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr9:66466226A>G ENST00000424345.1 + 0 859 cctagcggagagagagccgga 0.453000 2 6 0 0 0.115264 0 0 HERC2P9 0 broad.mit.edu 37 15 28929317 28929317 + RNA SNP T T G TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr15:28929317T>G ENST00000528584.1 + 0 1854 NR_036443.1 AGAATTATATTGAGATCTACT 0.363000 6 30 0 0 0.217242 0 0 SV2C 22987 broad.mit.edu 37 5 75427791 75427791 + Silent SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr5:75427791C>T ENST00000502798.2 + 2 658 c.216C>T c.(214-216)gaC>gaT p.D72D SV2C_ENST00000322285.7_Silent_p.D72D NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 72 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.D72D(1) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CCAACGATGACGAAGGCTCAA 0.498000 7 52 0 0 0.278610 0 0 RP1 6101 broad.mit.edu 37 8 55540711 55540711 + Nonsense_Mutation SNP T T A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr8:55540711T>A ENST00000220676.1 + 4 4417 c.4269T>A c.(4267-4269)tgT>tgA p.C1423* NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1423 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.C1423*(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTGAAAATTGTTCACTAAGGA 0.363000 15 110 0 0 0.500413 0 0 CSMD2 114784 broad.mit.edu 37 1 34112373 34112373 + Missense_Mutation SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr1:34112373G>A ENST00000373381.4 - 29 4825 c.4649C>T c.(4648-4650)cCt>cTt p.P1550L CSMD2_ENST00000373380.1_Missense_Mutation_p.P423L|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1510 CUB 9. integral to membrane|plasma membrane protein binding p.P1510L(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCTATGAGAGGGCTGAGAGA 0.562000 4 35 0 0 0.150653 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704167 52704167 + Missense_Mutation SNP G G C TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr1:52704167G>C ENST00000287727.3 + 4 1250 c.1078G>C c.(1078-1080)Gat>Cat p.D360H ZFYVE9_ENST00000361625.1_Missense_Mutation_p.D360H|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D360H|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D360H NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 360 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity p.D360H(1) breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 ACGGTGTTCAGATTGCCTTGT 0.428000 17 206 0 0 0.557998 0 0 UBR1 197131 broad.mit.edu 37 15 43276106 43276106 + Missense_Mutation SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr15:43276106C>T ENST00000290650.4 - 37 4217 c.4139G>A c.(4138-4140)cGt>cAt p.R1380H UBR1_ENST00000382177.2_3'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 1380 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding p.R1380H(1) NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TGATAGAAGACGAACCAGATG 0.348000 5 50 0 0 0.217242 0 0 ANK2 287 broad.mit.edu 37 4 114251487 114251487 + Missense_Mutation SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr4:114251487C>T ENST00000357077.4 + 27 3039 c.2986C>T c.(2986-2988)Cgg>Tgg p.R996W ANK2_ENST00000264366.6_Missense_Mutation_p.R996W|ANK2_ENST00000509550.1_Missense_Mutation_p.R205W|ANK2_ENST00000394537.3_Missense_Mutation_p.R996W|ANK2_ENST00000506722.1_Missense_Mutation_p.R987W NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 996 Interaction with SPTBN1.|ZU5. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.R996W(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TATTCCACCTCGGAAATGTAC 0.512000 7 59 0 0 0.307466 0 0 MARK4 57787 broad.mit.edu 37 19 45762287 45762287 + Missense_Mutation SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr19:45762287C>T ENST00000300843.4 + 2 389 c.92C>T c.(91-93)cCg>cTg p.P31L MARK4_ENST00000262891.4_Missense_Mutation_p.P31L NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 31 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding p.P31L(2) NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GACAAAGGCCCGTCCTGGTCC 0.672000 6 26 0 0 0.278610 0 0 POM121L9P 0 broad.mit.edu 37 22 24659809 24659809 + RNA SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr22:24659809G>A ENST00000414583.2 + 0 3334 NR_003714.1 CCCTATCTGCGCACCCGGAGG 0.612000 3 8 0 0 0.115264 0 0 BIN2 51411 broad.mit.edu 37 12 51696475 51696475 + Missense_Mutation SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr12:51696475C>T ENST00000267012.4 - 4 368 c.307G>A c.(307-309)Gta>Ata p.V103I BIN2_ENST00000544402.1_Missense_Mutation_p.V77I|BIN2_ENST00000604560.1_Missense_Mutation_p.V76I|BIN2_ENST00000452142.2_Missense_Mutation_p.V103I NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 103 BAR. cytoplasm protein binding p.V103I(1) NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CTTACCCATACGATGGCCTTC 0.448000 47 320 0 0 0.870114 0 0 SNPH 9751 broad.mit.edu 37 20 1276943 1276943 + Silent SNP C C A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr20:1276943C>A ENST00000381867.1 + 4 702 c.60C>A c.(58-60)ggC>ggA p.G20G RAD21L1_ENST00000381882.2_Intron|SNPH_ENST00000381873.3_Intron|RAD21L1_ENST00000402452.1_Intron O15079 SNPH_HUMAN syntaphilin 0 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding p.G20G(1) endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TTTCTGCGGGCCCCCCAACCC 0.687000 4 7 0.00909568 0.0102821 0.150653 1 0 MET 0 broad.mit.edu 37 7 116340051 116340051 + Missense_Mutation SNP A A G TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr7:116340051A>G ENST00000397752.3 + 2 1113 c.913A>G c.(913-915)Aaa>Gaa p.K305E MET_ENST00000436117.2_Missense_Mutation_p.K305E|MET_ENST00000318493.6_Missense_Mutation_p.K305E NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 305 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.K305E(2) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AGAAAAGAGAAAAAAGAGATC 0.428000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 11 202 0 0 0.361761 0 0 ATG2B 55102 broad.mit.edu 37 14 96800092 96800092 + Silent SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr14:96800092G>A ENST00000359933.4 - 8 2033 c.1140C>T c.(1138-1140)ctC>ctT p.L380L NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 380 p.L380L(1) breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CACCCACAGAGAGGGAATCTT 0.413000 4 165 0 0 0.184627 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51768703 51768703 + Missense_Mutation SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr19:51768703C>T ENST00000316401.7 + 3 485 c.104C>T c.(103-105)cCc>cTc p.P35L CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron|SIGLECL1_ENST00000597824.1_Intron NM_173635.1 NP_775906.1 SIGLEC family like 1 p.P35L(1) ATTCCCACACCCTCTGTGCAG 0.587000 29 152 0 0 0.717897 0 0 FBN1 2200 broad.mit.edu 37 15 48729540 48729540 + Missense_Mutation SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr15:48729540C>T ENST00000316623.5 - 52 6813 c.6358G>A c.(6358-6360)Gga>Aga p.G2120R NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2120 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding p.G2120R(1) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TCATCAGGTCCCACGATGATC 0.423000 3 59 0 0 0.115264 0 0 CLMN 79789 broad.mit.edu 37 14 95670136 95670136 + Missense_Mutation SNP C C T rs78561092 byFrequency TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr14:95670136C>T ENST00000298912.4 - 9 1663 c.1550G>A c.(1549-1551)cGc>cAc p.R517H NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 517 integral to membrane actin binding p.R517H(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) TTCATCGTGGCGGGCTGTACT 0.458000 11 112 0 0 0.361761 0 0 SF3A3 10946 broad.mit.edu 37 1 38442585 38442585 + Missense_Mutation SNP G G T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr1:38442585G>T ENST00000373019.4 - 12 1931 c.976C>A c.(976-978)Cag>Aag p.Q326K SF3A3_ENST00000448721.2_Missense_Mutation_p.Q273K NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 326 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TCATAGATCTGGGCTTCTAGA 0.403000 28 185 1.88708e-17 2.51611e-17 0.729181 1 0 KIAA0319L 79932 broad.mit.edu 37 1 35915489 35915489 + Missense_Mutation SNP T T C TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr1:35915489T>C ENST00000325722.3 - 15 2566 c.2332A>G c.(2332-2334)Acc>Gcc p.T778A KIAA0319L_ENST00000373266.4_Missense_Mutation_p.T215A|KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 778 PKD 5. cytoplasmic vesicle part|integral to membrane protein binding p.T778A(2) breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCCACAGTGGTCCGGTCTGTG 0.488000 22 154 0 0 0.608945 0 0 SEMA4A 64218 broad.mit.edu 37 1 156131152 156131152 + Missense_Mutation SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr1:156131152G>A ENST00000368285.3 + 9 1093 c.826G>A c.(826-828)Gaa>Aaa p.E276K SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.E276K|SEMA4A_ENST00000368286.2_Missense_Mutation_p.E144K|SEMA4A_ENST00000368282.1_Missense_Mutation_p.E276K|SEMA4A_ENST00000368284.1_Missense_Mutation_p.E144K NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 276 Sema. axon guidance integral to membrane|plasma membrane receptor activity p.E276K(1) breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CGTGGGCGGCGAAAAGCTGCT 0.726000 10 59 0 0 0.335167 0 0 CSF3R 1441 broad.mit.edu 37 1 36935383 36935383 + Silent SNP G G T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr1:36935383G>T ENST00000373103.1 - 11 1891 c.1344C>A c.(1342-1344)ggC>ggA p.G448G CSF3R_ENST00000418048.2_Silent_p.G448G|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Silent_p.G448G|CSF3R_ENST00000373106.1_Silent_p.G448G|CSF3R_ENST00000361632.4_Silent_p.G448G|CSF3R_ENST00000338937.5_Silent_p.G448G|CSF3R_ENST00000331941.5_Silent_p.G448G|CSF3R_ENST00000440588.2_Silent_p.G448G NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 448 Fibronectin type-III 4. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity p.G448G(2) central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) GGGGCTCCCAGCCTACCCAGA 0.602000 5 74 0.000602214 0.000711708 0.184627 1 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 4 65 0 0 0.307466 0 0 RP11-262H14.1 0 broad.mit.edu 37 9 66459820 66459820 + RNA SNP G G C TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr9:66459820G>C ENST00000424345.1 + 0 80 tttgtccccagtgccttattt 0.353000 2 2 0 0 0.184627 0 0 MRPL28 10573 broad.mit.edu 37 16 418564 418564 + Silent SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr16:418564C>T ENST00000199706.8 - 4 548 c.513G>A c.(511-513)cgG>cgA p.R171R MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Silent_p.R171R NM_006428.4 NP_006419.2 Q13084 RM28_HUMAN mitochondrial ribosomal protein L28 171 translation mitochondrial ribosome protein binding|structural constituent of ribosome p.R171R(1) breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1) 5 Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064) GGGGGTCCTGCCGGGCAAGCC 0.657000 7 64 0 0 0.307466 0 0 SBNO1 55206 broad.mit.edu 37 12 123834911 123834911 + Silent SNP A A G TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr12:123834911A>G ENST00000420886.2 - 1 77 c.78T>C c.(76-78)atT>atC p.I26I SBNO1_ENST00000602398.1_Silent_p.I26I|SBNO1_ENST00000267176.4_Silent_p.I26I|SBNO1_ENST00000602750.1_Silent_p.I26I NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 26 ATP binding|DNA binding|hydrolase activity p.I26I(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTCCACCATCAATATCAAAGA 0.438000 16 386 0 0 0.520397 0 0 TNN 63923 broad.mit.edu 37 1 175046577 175046577 + Missense_Mutation SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr1:175046577G>A ENST00000239462.4 + 2 136 c.23G>A c.(22-24)cGc>cAc p.R8H NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 8 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.R8H(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAGATGTTCCGCTTCCCTATG 0.572000 8 239 0 0 0.278610 0 0 PDGFRA 5156 broad.mit.edu 37 4 55138618 55138618 + Missense_Mutation SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr4:55138618C>T ENST00000257290.5 + 9 1626 c.1295C>T c.(1294-1296)aCg>aTg p.T432M FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 432 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.T432M(2) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GGGGGACAGACGGTGAGGTGC 0.473000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 17 118 0 0 0.539581 0 0 CDR1 1038 broad.mit.edu 37 X 139866376 139866376 + Missense_Mutation SNP C C A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chrX:139866376C>A ENST00000370532.2 - 1 347 c.156G>T c.(154-156)ttG>ttT p.L52F NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 52 23 X 6 AA approximate repeats. p.L52F(1) breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CCACGTCTTCCAACAAAGCCA 0.438000 37 101 1.26612e-14 1.56757e-14 0.779181 1 0 DMD 1756 broad.mit.edu 37 X 31676189 31676189 + Missense_Mutation SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chrX:31676189G>A ENST00000357033.4 - 54 8151 c.7945C>T c.(7945-7947)Cgg>Tgg p.R2649W DMD_ENST00000359836.1_Missense_Mutation_p.R189W|DMD_ENST00000343523.2_Missense_Mutation_p.R189W|DMD_ENST00000378707.3_Missense_Mutation_p.R189W|DMD_ENST00000378677.2_Missense_Mutation_p.R2645W|DMD_ENST00000541735.1_Missense_Mutation_p.R189W|DMD_ENST00000474231.1_Missense_Mutation_p.R189W NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2649 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.R189W(2)|p.R2645W(2)|p.R2644W(1)|p.R1308W(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GAATAATCCCGGAGAAGTTTC 0.393000 38 113 0 0 0.796494 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86556150 86556150 + Missense_Mutation SNP T T C TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr7:86556150T>C ENST00000450689.2 - 9 1357 c.1172A>G c.(1171-1173)gAg>gGg p.E391G KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E224G|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E391G|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E151G NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 391 integral to membrane p.E151G(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) ATCCTTCTTCTCTCCAGAAGG 0.428000 14 265 0 0 0.457914 0 0 RNF26 79102 broad.mit.edu 37 11 119207000 119207000 + Missense_Mutation SNP G G T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr11:119207000G>T ENST00000311413.4 + 1 1764 c.1168G>T c.(1168-1170)Gtg>Ttg p.V390L RP11-334E6.10_ENST00000501918.2_RNA NM_032015.4 NP_114404.1 Q9BY78 RNF26_HUMAN ring finger protein 26 390 zinc ion binding p.V390L(1) cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.8e-05) GAGCAAGACAGTGTTGCTCCT 0.607000 16 95 4.75885e-15 6.03561e-15 0.520397 1 0 PRAMEF7 441871 broad.mit.edu 37 1 12979764 12979764 + Missense_Mutation SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr1:12979764G>A ENST00000361079.2 + 4 1039 c.956G>A c.(955-957)cGt>cAt p.R319H PRAME family member 7 p.R319H(2) endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 18 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCGAGCATCCGTCAATTAAAG 0.587000 8 309 0 0 0.307466 0 0 AC144450.1 0 broad.mit.edu 37 2 1600084 1600087 + RNA DEL CAGA CAGA - TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr2:1600084_1600087delCAGA ENST00000438247.1 - 0 515 gcacacagatcagacacacacaag 0.485 2 4 --- --- --- --- DOK7 285489 broad.mit.edu 37 4 3494670 3494671 + Frame_Shift_Ins INS - - A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr4:3494670_3494671insA ENST00000340083.5 + 7 1022_1023 c.957_958insA c.(955-960)ccagccfs p.A320fs DOK7_ENST00000389653.2_Frame_Shift_Ins_p.A320fs|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 320 Ser-rich. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGCCACCCCCCAAGCCGCTGCG 0.688 3 5 --- --- --- --- RP4-659J6.2 0 broad.mit.edu 37 7 139878082 139878089 + RNA DEL TCCCTCCC TCCCTCCC - rs57191915 TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr7:139878082_139878089delTCCCTCCC ENST00000566699.1 + 0 1022_1029 NR_024451.1 cttccttccttccctccctccCTTTCCT 0.471 2 4 --- --- --- --- LINC00475 0 broad.mit.edu 37 9 94904432 94904432 + RNA DEL G G - rs58003635 TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr9:94904432delG ENST00000416438.2 + 0 184 NR_027341.1 GGCCTTCTTTGGGGGGGGGGT 0.612 3 3 --- --- --- --- AC004158.2 0 broad.mit.edu 37 16 72564152 72564155 + RNA DEL TGTG TGTG - rs60858703 TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr16:72564152_72564155delTGTG ENST00000561611.2 - 0 113 CACTATTTTAtgtgtgtgtgtgtg 0.402 3 3 --- --- --- --- NEUROD2 4761 broad.mit.edu 37 17 37762300 37762308 + In_Frame_Del DEL GGTCTGGCC GGTCTGGCC - TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr17:37762300_37762308delGGTCTGGCC ENST00000302584.4 - 2 765_773 c.545_553delGGCCAGACC c.(544-555)cta>c p.RPDL182del NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 182 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) TAGGACACTAGGTCTGGCCGCTTGCCGGA 0.603 8 81 --- --- --- --- LINC00669 0 broad.mit.edu 37 18 37248431 37248454 + RNA DEL AGGGAGGAAGGAAGGAAGGAAGGA AGGGAGGAAGGAAGGAAGGAAGGA - rs141334489 by1000genomes TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr18:37248431_37248454delAGGGAGGAAGGAAGGAAGGAAGGA ENST00000591629.1 - 0 282 NR_024391.1 ggagggagggagggaggaaggaaggaaggaaggaaggaaggaag 0.402 4 6 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 7 389 --- --- --- ---