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 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 4 67 0.0215528 0.0219376 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158631121 158631121 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr1:158631121C>T ENST00000368148.3 - 18 2723 c.2543G>A c.(2542-2544)cGc>cAc p.R848H SPTA1_ENST00000368147.3_Missense_Mutation_p.R848H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 848 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTCTTGAATGCGTGGTTCATG 0.438000 49 123 0 0 1 0 0 ARRDC5 645432 broad.mit.edu 37 19 4891081 4891081 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr19:4891081C>T ENST00000381781.2 - 3 1005 c.1006G>A c.(1006-1008)Gtg>Atg p.V336M NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 336 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) TCTGGGTTCACGGGTAACACT 0.507000 12 51 0 0 1 0 0 CLIC2 1193 broad.mit.edu 37 X 154507271 154507271 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chrX:154507271C>T ENST00000369449.2 - 6 883 c.665G>A c.(664-666)cGt>cAt p.R222H CLIC2_ENST00000465553.1_5'UTR NM_001289.4 NP_001280.3 O15247 CLIC2_HUMAN chloride intracellular channel 2 222 C-terminal.|GST C-terminal. signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity p.R222H(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 18 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AAATTCTTCACGGGCATAGGC 0.408000 4 72 0 0 1 0 0 FPGT-TNNI3K 0 broad.mit.edu 37 1 74819697 74819697 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr1:74819697G>A ENST00000370895.1 + 13 1399 c.1364G>A c.(1363-1365)cGc>cAc p.R455H TNNI3K_ENST00000370891.2_Missense_Mutation_p.R455H|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R354H|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R455H|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R455H|RP11-439H8.4_ENST00000415549.2_RNA Q59H18 TNI3K_HUMAN 354 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding p.R354H(2) GGTCACATTCGCCTGGTTCAG 0.403000 9 105 0 0 1 0 0 FGFBP2 83888 broad.mit.edu 37 4 15964674 15964674 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr4:15964674C>T ENST00000259989.6 - 1 185 c.79G>A c.(79-81)Gga>Aga p.G27R FGFBP2_ENST00000509331.1_Intron NM_031950.3 NP_114156.1 Q9BYJ0 FGFP2_HUMAN fibroblast growth factor binding protein 2 27 extracellular space growth factor binding central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 CCAGTGCTTCCTTGCTTTTGC 0.577000 12 36 0 0 1 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114450813 114450813 + Splice_Site SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr1:114450813G>A ENST00000369563.3 + 3 984 c.538_splice c.e3+1 p.G180_splice DCLRE1B_ENST00000466480.1_3'UTR NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 180 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) 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) CATAAAGATTGGTGAGTTGTT 0.428000 Other identified genes with known or suspected DNA repair function 17 55 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551377 100551377 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr7:100551377G>A ENST00000319509.7 + 1 128 c.128G>A c.(127-129)cGa>cAa p.R43Q mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ACAAGCCTACGAACTCTCACC 0.502000 4 83 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 51 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14989438 14989438 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr16:14989438C>T ENST00000287667.7 + 31 3776 c.3605C>T c.(3604-3606)tCt>tTt p.S1202F NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1202 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 CAGGCAGCCTCTGACAATAGC 0.552000 6 529 0 0 1 0 0 TIMM13 26517 broad.mit.edu 37 19 2427323 2427323 + Splice_Site SNP C C A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr19:2427323C>A ENST00000215570.3 - 2 481 c.e2-1 TIMM13_ENST00000591871.1_Splice_Site NM_012458.2 NP_036590.1 Q9Y5L4 TIM13_HUMAN translocase of inner mitochondrial membrane 13 homolog (yeast) protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex protein binding|zinc ion binding endometrium(1)|prostate(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGTCATCCTCTGTGGAGACA 0.687000 12 149 7.03913e-09 8.35896e-09 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23527693 23527693 + Silent SNP T T C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr5:23527693T>C ENST00000296682.3 + 11 2678 c.2496T>C c.(2494-2496)taT>taC p.Y832Y NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 832 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.Y832Y(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGAAGCCCTATGTCTGCAGGG 0.587000 HNSCC(3;0.000094) 4 107 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237781 56237781 + Missense_Mutation SNP A A G TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr11:56237781A>G ENST00000312240.2 - 1 233 c.193T>C c.(193-195)Tca>Cca p.S65P NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TCAACAAATGACAAGTGACTG 0.393000 4 139 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43892822 43892822 + Missense_Mutation SNP C C A rs2915791 TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr15:43892822C>A ENST00000450892.2 - 26 4980 c.4903G>T c.(4903-4905)Gtt>Ttt p.V1635F STRC_ENST00000541030.1_Missense_Mutation_p.V862F NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1635 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGGGCCAGAACCTCCAGTTGT 0.542000 4 36 0.00116845 0.00123336 1 1 0 EDIL3 10085 broad.mit.edu 37 5 83402534 83402534 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr5:83402534C>T ENST00000296591.5 - 6 1002 c.584G>A c.(583-585)cGt>cAt p.R195H EDIL3_ENST00000380138.3_Missense_Mutation_p.R185H NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 195 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) CTTATTAAGACGTGCATAGTA 0.433000 5 169 0 0 1 0 0 ICAM4 3386 broad.mit.edu 37 19 10398384 10398384 + Nonsense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr19:10398384C>T ENST00000340992.4 + 2 529 c.490C>T c.(490-492)Caa>Taa p.Q164* ICAM4_ENST00000380770.3_Silent_p.A189A|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_Silent_p.A189A NM_001039132.2 NP_001034221.1 Q14773 ICAM4_HUMAN intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 0 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding breast(1)|large_intestine(3)|lung(2)|pancreas(1) 7 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TGGATCTGGCCAACGTGACCT 0.637000 4 52 0 0 1 0 0 RNF214 257160 broad.mit.edu 37 11 117117567 117117567 + Nonsense_Mutation SNP G G T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr11:117117567G>T ENST00000530849.1 + 5 407 c.397G>T c.(397-399)Gaa>Taa p.E133* RNF214_ENST00000300650.4_Nonsense_Mutation_p.E288*|RNF214_ENST00000531452.1_Nonsense_Mutation_p.E288*|RNF214_ENST00000531287.1_Nonsense_Mutation_p.E133* Q8ND24 RN214_HUMAN ring finger protein 214 288 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) AAAGCGGGAAGAAACAAAGAA 0.373000 4 181 0.00024832 0.000267061 1 1 0 CIB1 10519 broad.mit.edu 37 15 90774720 90774720 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr15:90774720C>T ENST00000328649.6 - 4 376 c.215G>A c.(214-216)cGa>cAa p.R72Q NM_006384.3 NP_006375.2 Q99828 CIB1_HUMAN calcium and integrin binding 1 (calmyrin) 72 apoptosis|cell adhesion|double-strand break repair apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm calcium ion binding|protein binding lung(1)|prostate(1) 2 Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303) BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) CCTGCAGATTCGCTCCTTGAA 0.547000 12 22 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43819391 43819391 + Missense_Mutation SNP G G T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr12:43819391G>T ENST00000389420.3 - 28 4209 c.4210C>A c.(4210-4212)Cca>Aca p.P1404T ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P522T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1404T NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1404 TSP type-1 10. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACGCTAGGTGGCTTGTTTACA 0.403000 6 21 0.0215528 0.0219376 1 1 0 PHC2 1912 broad.mit.edu 37 1 33797885 33797885 + Missense_Mutation SNP A A C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr1:33797885A>C ENST00000257118.5 - 10 1932 c.1879T>G c.(1879-1881)Tat>Gat p.Y627D PHC2_ENST00000431992.1_Missense_Mutation_p.Y598D|PHC2_ENST00000373422.3_Missense_Mutation_p.Y233D|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.Y92D|PHC2_ENST00000419414.2_Missense_Mutation_p.Y628D|PHC2_ENST00000373416.1_Missense_Mutation_p.Y92D NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 627 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCTTGCAGATAGGGCTCCTCC 0.567000 4 95 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 4 37 0 0 1 0 0 PCDHB8 0 broad.mit.edu 37 5 140559000 140559000 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr5:140559000G>A ENST00000239444.2 + 1 1630 c.1385G>A c.(1384-1386)cGc>cAc p.R462H NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 462 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R462P(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGTTCGTCCGCGAGAACAAC 0.627000 21 325 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39075636 39075636 + Silent SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr19:39075636C>T ENST00000355481.4 + 101 14816 c.14685C>T c.(14683-14685)gaC>gaT p.D4895D RYR1_ENST00000360985.3_Silent_p.D4895D|RYR1_ENST00000359596.3_Silent_p.D4900D NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4900 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCATTGGGGACGAGATCGAGG 0.557000 9 42 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99662943 99662943 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chrX:99662943C>T ENST00000373034.4 - 1 2328 c.653G>A c.(652-654)cGc>cAc p.R218H PCDH19_ENST00000420881.2_Missense_Mutation_p.R218H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R218H NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 218 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GGTGCCCAGGCGCGGCGGGTC 0.607000 24 39 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89468541 89468541 + Splice_Site SNP G G T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr3:89468541G>T ENST00000336596.2 + 11 2299 c.e11+1 EPHA3_ENST00000494014.1_Splice_Site NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GTTACCAAAAGTAAGTAAAGT 0.398000 TSP Lung(6;0.00050) 22 48 1.28384e-07 1.43488e-07 1 1 0 SPHKAP 80309 broad.mit.edu 37 2 228883536 228883536 + Silent SNP A A G TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr2:228883536A>G ENST00000392056.3 - 7 2080 c.2034T>C c.(2032-2034)caT>caC p.H678H SPHKAP_ENST00000344657.5_Silent_p.H678H NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 678 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CATCAATGGAATGCCTCAGGA 0.418000 103 173 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587532 55587532 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr11:55587532G>A ENST00000333976.4 + 1 447 c.427G>A c.(427-429)Gtg>Atg p.V143M NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) GAAACTCTGCGTGCTGCTGGT 0.468000 32 124 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10096993 10096993 + Nonsense_Mutation SNP T T A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr19:10096993T>A ENST00000264828.3 - 30 2435 c.2350A>T c.(2350-2352)Aag>Tag p.K784* NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 784 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCATTTACCTTCTCCCCAGCT 0.632000 9 24 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123780522 123780522 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr12:123780522G>A ENST00000420886.2 - 31 4114 c.4115C>T c.(4114-4116)gCg>gTg p.A1372V SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1372 ATP binding|DNA binding|hydrolase activity p.A1371V(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) CTGTTGGACCGCAAGCTGTTG 0.433000 5 275 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100281226 100281226 + Missense_Mutation SNP T T C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr7:100281226T>C ENST00000275732.5 - 17 3208 c.1999A>G c.(1999-2001)Att>Gtt p.I667V NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 667 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GAAGAGTTAATTGGTATGTCC 0.597000 10 140 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76729799 76729799 + Missense_Mutation SNP T T C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr10:76729799T>C ENST00000287239.4 + 6 1357 c.868T>C c.(868-870)Tcc>Ccc p.S290P KAT6B_ENST00000372711.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372714.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372724.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372725.1_Missense_Mutation_p.S290P NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 290 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TTTTTGTGATTCCTGTGATAG 0.318000 6 43 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530262 80530262 + Missense_Mutation SNP T T C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr2:80530262T>C ENST00000295057.3 - 2 1339 c.683A>G c.(682-684)cAc>cGc p.H228R LRRTM1_ENST00000409148.1_Missense_Mutation_p.H228R|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 228 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GCGCGGGAAGTGGGCGAAGTT 0.577000 HNSCC(69;0.2) 39 76 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271277 1271277 + Silent SNP C C G TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr11:1271277C>G ENST00000447027.1 + 31 13234 c.13176C>G c.(13174-13176)acC>acG p.T4392T MUC5B_ENST00000529681.1_Silent_p.T4389T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4389 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGGGGACGACCTGGATCCTCA 0.662000 4 102 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53783437 53783437 + Missense_Mutation SNP G G A rs149170250 TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr3:53783437G>A ENST00000288139.3 + 28 3635 c.3517G>A c.(3517-3519)Gtt>Att p.V1173I CACNA1D_ENST00000540742.1_Missense_Mutation_p.V60I|CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1153I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1153I NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1153 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CTTTGTCATCGTTACATTTCA 0.418000 4 82 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135722332 135722332 + Silent SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr3:135722332C>T ENST00000264977.3 + 2 2609 c.1992C>T c.(1990-1992)atC>atT p.I664I PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 664 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CAGAGGTGATCAAGGTAAGAC 0.353000 18 66 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181022 57181022 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr4:57181022G>A ENST00000504228.1 + 6 1459 c.1354G>A c.(1354-1356)Gag>Aag p.E452K KIAA1211_ENST00000541073.1_Missense_Mutation_p.E445K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E452K Q6ZU35 K1211_HUMAN KIAA1211 452 Glu-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AGGTATTTGCGAGGAGCAGAA 0.592000 3 14 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327049 57327049 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr19:57327049C>T ENST00000326441.9 - 10 3124 c.2761G>A c.(2761-2763)Gaa>Aaa p.E921K ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E795K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E921K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E797K|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 921 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E921K(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ACAGAGAATTCGCCATCCTTC 0.443000 6 111 0 0 1 0 0 SHISA2 387914 broad.mit.edu 37 13 26620948 26620948 + Silent SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr13:26620948C>T ENST00000319420.3 - 2 646 c.591G>A c.(589-591)gcG>gcA p.A197A NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 197 multicellular organismal development endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 TTGTTGGGGGCGCCCGGGCCC 0.612000 7 105 0 0 1 0 0 SOCS4 122809 broad.mit.edu 37 14 55509920 55509920 + Missense_Mutation SNP G G T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr14:55509920G>T ENST00000395472.2 + 2 493 c.161G>T c.(160-162)gGt>gTt p.G54V SOCS4_ENST00000555846.1_Missense_Mutation_p.G54V|SOCS4_ENST00000339298.2_Missense_Mutation_p.G54V NM_080867.2|NM_199421.1 NP_543143.1|NP_955453.1 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 54 intracellular signal transduction|negative regulation of signal transduction|regulation of growth central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 14 ACAGTGAATGGTATAGAGAAA 0.413000 23 68 3.08376e-08 3.51549e-08 1 1 0 ITGA8 8516 broad.mit.edu 37 10 15590512 15590512 + Missense_Mutation SNP C C G TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr10:15590512C>G ENST00000378076.3 - 27 3175 c.2822G>C c.(2821-2823)gGa>gCa p.G941A NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 941 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GCTTTCTCCTCCTTCGAGTCG 0.473000 7 45 0 0 1 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17362963 17362963 + Missense_Mutation SNP G G T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr10:17362963G>T ENST00000377602.4 - 8 1185 c.1111C>A c.(1111-1113)Cag>Aag p.Q371K NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 371 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 TTGGGCATCTGATGGAAACCA 0.403000 10 255 2.17888e-05 2.38838e-05 1 1 0 ETV4 2118 broad.mit.edu 37 17 41611270 41611270 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr17:41611270G>A ENST00000319349.5 - 6 638 c.340C>T c.(340-342)Ccg>Tcg p.P114S ETV4_ENST00000591713.1_Missense_Mutation_p.P114S|ETV4_ENST00000545954.1_Missense_Mutation_p.P75S|ETV4_ENST00000545089.1_Missense_Mutation_p.P114S|ETV4_ENST00000538265.1_Missense_Mutation_p.P75S|ETV4_ENST00000393664.2_Missense_Mutation_p.P114S NM_001079675.2 NP_001073143.1 P43268 ETV4_HUMAN ets variant 4 114 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) GGGAGTGGCGGCTTCCTGCTG 0.652000 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 4 22 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131765100 131765100 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr9:131765100C>T ENST00000372577.2 + 37 4163 c.4142C>T c.(4141-4143)cCt>cTt p.P1381L NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1381 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TCTTAGACACCTAGTGCCTCT 0.562000 12 45 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1087944 1087944 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr11:1087944G>A ENST00000441003.2 + 25 3446 c.3419G>A c.(3418-3420)cGg>cAg p.R1140Q MUC2_ENST00000359061.5_Missense_Mutation_p.R1140Q NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1140 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGTGGGAACCGGAGCTTCGAG 0.607000 3 14 0 0 1 0 0 NUFIP1 26747 broad.mit.edu 37 13 45533530 45533530 + Missense_Mutation SNP A A C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr13:45533530A>C ENST00000379161.4 - 7 1053 c.1007T>G c.(1006-1008)aTa>aGa p.I336R NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 336 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) ATCACTGTTTATCAAAACACC 0.403000 35 66 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153174234 153174234 + Missense_Mutation SNP A A T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr5:153174234A>T ENST00000285900.5 + 14 2667 c.2324A>T c.(2323-2325)aAa>aTa p.K775I GRIA1_ENST00000518142.1_Missense_Mutation_p.K695I|GRIA1_ENST00000518783.1_Missense_Mutation_p.K785I|GRIA1_ENST00000521843.2_Missense_Mutation_p.K706I|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 775 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTTTTGGACAAATTGAAAAAC 0.443000 5 51 0 0 1 0 0 LRRC10 376132 broad.mit.edu 37 12 70003941 70003941 + Silent SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr12:70003941G>A ENST00000361484.3 - 1 1001 c.678C>T c.(676-678)aaC>aaT p.N226N NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 226 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CCTTGGGTGCGTTCCTGCAAG 0.582000 7 23 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104448995 104448995 + Missense_Mutation SNP A A C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr9:104448995A>C ENST00000361820.3 - 2 1787 c.1187T>G c.(1186-1188)gTc>gGc p.V396G NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 396 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGCTCTTGCGACCAGCTCCAT 0.498000 4 80 0 0 1 0 0 MECR 51102 broad.mit.edu 37 1 29527049 29527049 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr1:29527049G>A ENST00000373791.3 - 7 953 c.581C>T c.(580-582)aCa>aTa p.T194I MECR_ENST00000263702.6_Missense_Mutation_p.T270I NM_001024732.1|NM_016011.2 NP_001019903.1|NP_057095.2 Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase 270 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) CAGCAGCTCTGTGGAGCTTTT 0.562000 4 26 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40342400 40342400 + Frame_Shift_Del DEL C C - TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr2:40342400delC ENST00000406785.1 - 8 2996 c.2807delG c.(2806-2808)gcfs p.G936fs SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.G967fs|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.G936fs|SLC8A1_ENST00000403092.1_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.G967fs|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.G964fs|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 972 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CCTTTAGAAGCCTTTTATGTG 0.398 25 41 --- --- --- --- POU3F3 5455 broad.mit.edu 37 2 105472850 105472852 + In_Frame_Del DEL CGG CGG - TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr2:105472850_105472852delCGG ENST00000361360.2 + 1 882_884 c.882_884delCGG c.(880-885)cac>ca p.HG294del RP11-13J10.1_ENST00000598623.1_RNA NM_006236.1 NP_006227.1 P20264 PO3F3_HUMAN POU class 3 homeobox 3 294 Gly-rich.|His-rich. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 CCCCGCACCAcggcggcggcggc 0.749 2 4 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139809072 139809072 + Frame_Shift_Del DEL T T - TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr8:139809072delT ENST00000303045.6 - 12 2032 c.1586delA c.(1585-1587)agfs p.K529fs COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 529 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTTTCACCCTTTTCCCCTTG 0.463 HNSCC(7;0.00092) 7 450 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 3 5 --- --- --- --- CTC-559E9.4 0 broad.mit.edu 37 19 19879888 19879894 + RNA DEL TTTTTTT TTTTTTT - rs58174551 TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr19:19879888_19879894delTTTTTTT ENST00000590274.1 - 0 116 aaaacattgattttttttttttttttg 0.386 2 4 --- --- --- ---