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 CCDC39 339829 broad.mit.edu 37 3 180334120 180334120 + Missense_Mutation SNP T T G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:180334120T>G ENST00000442201.2 - 19 2737 c.2618A>C c.(2617-2619)aAa>aCa p.K873T TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR NM_181426.1 NP_852091.1 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 873 Ser-rich. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ACGACTGCCTTTTGTGCTAGC 0.373000 113 182 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109784536 109784536 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr4:109784536C>T ENST00000399132.1 - 21 1621 c.1091G>A c.(1090-1092)cGg>cAg p.R364Q COL25A1_ENST00000399127.1_Missense_Mutation_p.R360Q|COL25A1_ENST00000399126.1_Missense_Mutation_p.R364Q NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 364 Collagen-like 4. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TGCTTCCCCCCGTTCACCCTG 0.502000 60 176 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 24 619 0 0 1 0 0 CES1P1 0 broad.mit.edu 37 16 55794587 55794587 + RNA SNP G G T rs151262919 by1000genomes TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:55794587G>T ENST00000571348.1 + 0 77 NR_003276.2 GGCCACTCTCGCTGCTTCCGC 0.597000 32 187 3.43241e-23 3.60088e-23 1 1 0 LCP1 3936 broad.mit.edu 37 13 46701838 46701838 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr13:46701838C>T ENST00000398576.2 - 19 2160 c.1772G>A c.(1771-1773)cGa>cAa p.R591Q LCP1_ENST00000435666.2_Missense_Mutation_p.R160Q|LCP1_ENST00000323076.2_Missense_Mutation_p.R591Q P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 591 Actin-binding 2.|CH 4. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TCCAATTTTTCGGGCCATAGA 0.488000 T BCL6 NHL 93 604 0 0 1 0 0 PUS7L 83448 broad.mit.edu 37 12 44142334 44142334 + Missense_Mutation SNP G G A rs143739935 byFrequency TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr12:44142334G>A ENST00000416848.2 - 3 1477 c.989C>T c.(988-990)tCg>tTg p.S330L PUS7L_ENST00000344862.5_Missense_Mutation_p.S330L|PUS7L_ENST00000431332.3_Missense_Mutation_p.S17L|PUS7L_ENST00000551923.1_Missense_Mutation_p.S330L|PUS7L_ENST00000553166.1_Missense_Mutation_p.S330L NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 330 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) ACTAAAATCCGAAGGAATAAC 0.348000 162 281 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824818 54824818 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:54824818C>T ENST00000243911.2 + 1 1031 c.919C>T c.(919-921)Cgc>Tgc p.R307C NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 344 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding p.R344C(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CCTGGAATTGCGCAACACCTT 0.517000 47 1057 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 10 243 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371066 240371066 + Missense_Mutation SNP G G T rs141912031 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:240371066G>T ENST00000319653.9 + 5 3184 c.2954G>T c.(2953-2955)gGc>gTc p.G985V NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 985 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.G1128A(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCGGAGCGGGCATACCCCCT 0.716000 32 508 1.30409e-13 1.35151e-13 1 1 0 MAGEA3 4102 broad.mit.edu 37 X 151935450 151935450 + Missense_Mutation SNP C C G rs34645170 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chrX:151935450C>G ENST00000393902.3 - 3 1284 c.717G>C c.(715-717)ttG>ttC p.L239F MAGEA3_ENST00000370278.3_Missense_Mutation_p.L239F P43357 MAGA3_HUMAN melanoma antigen family A, 3 239 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) TGGGATCCCCCAAGATACTGT 0.537000 163 332 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084296 26084296 + RNA SNP A A G rs61752037 by1000genomes TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:26084296A>G ENST00000478176.1 - 0 161 NR_003678.1 p.F40F(1) GTTTGCCTCCAAATGCTGGAT 0.378000 8 222 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) 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) ACTGGACGCAGGcagcagcag 0.657000 4 85 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292955 102292955 + RNA SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:102292955C>T ENST00000561463.1 + 0 1001 CACAGCGGTGCGACGAGATGC 0.577000 8 28 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 7 160 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370125 240370125 + Silent SNP A A G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:240370125A>G ENST00000319653.9 + 5 2243 c.2013A>G c.(2011-2013)ggA>ggG p.G671G NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 671 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGTCTGAGGGACAGGCCACTG 0.433000 37 202 0 0 1 0 0 KATNB1 10300 broad.mit.edu 37 16 57790798 57790798 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:57790798G>A ENST00000379661.3 + 20 2300 c.1908G>A c.(1906-1908)ctG>ctA p.L636L NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 636 Interaction with KATNA1 and NDEL1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) AGTCAGGCCTGAGCGGCCGCC 0.642000 5 26 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070332 9070332 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:9070332G>A ENST00000397910.4 - 3 17317 c.17114C>T c.(17113-17115)gCg>gTg p.A5705V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5707 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTGTGTGCGCAGTGTCTTT 0.502000 57 337 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:4793724C>A ENST00000269856.3 + 1 1997 c.1858C>A c.(1858-1860)Ctg>Atg p.L620M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 620 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.L620M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGCCTACGAGCTGCTGGACGA 0.607000 7 188 1 1 1 1 0 EGR1 1958 broad.mit.edu 37 5 137801526 137801526 + Missense_Mutation SNP T T C rs149170181 byFrequency TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:137801526T>C ENST00000239938.4 + 1 348 c.76T>C c.(76-78)Tcg>Ccg p.S26P NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 26 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CTTTCCTCACTCGCCCACCAT 0.662000 8 409 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110390957 110390957 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr12:110390957G>A ENST00000360185.4 - 13 1346 c.1182C>T c.(1180-1182)agC>agT p.S394S GIT2_ENST00000338373.5_Silent_p.S394S|GIT2_ENST00000356259.4_Silent_p.S394S|GIT2_ENST00000355312.3_Silent_p.S394S|GIT2_ENST00000553118.1_Silent_p.S394S|GIT2_ENST00000551209.1_Silent_p.S393S|GIT2_ENST00000343646.5_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000547815.1_Silent_p.S394S|GIT2_ENST00000320063.9_Silent_p.S394S|GIT2_ENST00000457474.2_Silent_p.S396S|GIT2_ENST00000354574.4_Silent_p.S396S|GIT2_ENST00000361006.5_Silent_p.S394S Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 394 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 CTGATGCCACGCTGTCATAGT 0.488000 8 374 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94120314 94120314 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:94120314G>A ENST00000553484.1 + 39 6562 c.6408G>A c.(6406-6408)tcG>tcA p.S2136S UNC79_ENST00000393151.2_Silent_p.S2114S|UNC79_ENST00000256339.4_Silent_p.S1937S|UNC79_ENST00000555664.1_Silent_p.S2075S Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2114 integral to membrane p.S2136S(1)|p.S1937S(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CCTTAGCCTCGTCTCTGATGG 0.502000 141 699 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457676 15457676 + Missense_Mutation SNP A A G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:15457676A>G ENST00000360151.4 - 8 892 c.893T>C c.(892-894)cTa>cCa p.L298P NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 CGCTGAGGGTAGAGCTGAGGG 0.562000 10 730 0 0 1 0 0 TMEM151A 256472 broad.mit.edu 37 11 66062807 66062807 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:66062807G>A ENST00000327259.4 + 2 1234 c.1090G>A c.(1090-1092)Gtg>Atg p.V364M NM_153266.3 NP_694998.1 Q8N4L1 T151A_HUMAN transmembrane protein 151A 364 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 CTCGGAGGCCGTGGTCATGGG 0.731000 4 32 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5210704 5210704 + Silent SNP G G T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:5210704G>T ENST00000372412.4 - 34 5583 c.5350C>A c.(5350-5352)Cgg>Agg p.R1784R PTPRS_ENST00000588012.1_Silent_p.R1745R|PTPRS_ENST00000262963.6_Silent_p.R1763R|PTPRS_ENST00000587303.1_Silent_p.R1783R|PTPRS_ENST00000357368.4_Silent_p.R1783R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Silent_p.R1336R|PTPRS_ENST00000348075.2_Silent_p.R1745R|PTPRS_ENST00000592099.1_Silent_p.R1336R Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1783 Tyrosine-protein phosphatase 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CCCATCTCCCGCAGCTTGGTC 0.647000 65 214 4.01556e-35 4.29163e-35 1 1 0 GPR151 134391 broad.mit.edu 37 5 145895652 145895652 + Missense_Mutation SNP A A C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:145895652A>C ENST00000311104.2 - 1 101 c.25T>G c.(25-27)Tct>Gct p.S9A NM_194251.2 NP_919227.2 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 9 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGGAGTTAGAGTCTGCAAAG 0.498000 95 604 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48790345 48790345 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:48790345C>T ENST00000314191.2 - 41 5356 c.5300G>A c.(5299-5301)cGg>cAg p.R1767Q PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R1767Q NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1768 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) CTGCTGTTCCCGACAAAGAAC 0.383000 Non-homologous end-joining 48 796 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25380276 25380276 + Missense_Mutation SNP T T C rs121913240 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr12:25380276T>C ENST00000311936.3 - 3 373 c.182A>G c.(181-183)cAa>cGa p.Q61R KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61L(73)|p.Q61R(56)|p.Q61P(12) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GTACTCCTCTTGACCTGCTGT 0.418000 Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 130 305 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111399371 111399371 + Missense_Mutation SNP G G T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:111399371G>T ENST00000535254.1 - 20 2480 c.2413C>A c.(2413-2415)Cct>Act p.P805T BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000302759.6_Missense_Mutation_p.P825T|BUB1_ENST00000409311.1_Missense_Mutation_p.P825T NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 825 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GGGTTGGCAGGCTTTTGGACC 0.398000 128 738 1.1006e-49 1.20643e-49 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98609827 98609827 + Missense_Mutation SNP T T A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr7:98609827T>A ENST00000359863.4 + 72 11638 c.11429T>A c.(11428-11430)cTg>cAg p.L3810Q TRRAP_ENST00000355540.3_Missense_Mutation_p.L3781Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.L3799Q NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3810 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CTGGTGTCCCTGGTTCAGAAA 0.597000 8 181 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120006 38120006 + Silent SNP T T C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr22:38120006T>C ENST00000406386.3 + 7 1698 c.1443T>C c.(1441-1443)tgT>tgC p.C481C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 481 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C481C(3) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGTGCCCAGCGGG 0.592000 7 391 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 16 743 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179638314 179638314 + Missense_Mutation SNP C C T rs148920986 by1000genomes TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:179638314C>T ENST00000589042.1 - 32 7693 c.7469G>A c.(7468-7470)cGt>cAt p.R2490H TTN_ENST00000360870.5_Missense_Mutation_p.R2490H|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R2444H|TTN_ENST00000342992.6_Missense_Mutation_p.R2490H|TTN_ENST00000591111.1_Missense_Mutation_p.R2490H|TTN_ENST00000342175.6_Missense_Mutation_p.R2444H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R2444H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2219 Ig-like 14. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCCTGTACACGGTCATCAGG 0.438000 13 529 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28537580 28537580 + Missense_Mutation SNP C C A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:28537580C>A ENST00000401766.2 - 10 1914 c.1402G>T c.(1402-1404)Gcc>Tcc p.A468S SLC6A4_ENST00000261707.3_Missense_Mutation_p.A468S P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 468 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) ATGACCACGGCGAGCACGAAC 0.597000 166 328 1.07822e-63 1.18952e-63 1 1 0 NCOR1P1 0 broad.mit.edu 37 20 26084295 26084295 + RNA SNP C C T rs76611503 by1000genomes TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:26084295C>T ENST00000478176.1 - 0 162 NR_003678.1 p.G41R(1) TGTTTGCCTCCAAATGCTGGA 0.373000 7 225 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21462858 21462858 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:21462858C>T ENST00000281523.2 - 8 1554 c.1036G>A c.(1036-1038)Gca>Aca p.A346T NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 346 Poly-Ala. nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 actgctgctgcggctgctgca 0.517000 18 78 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:12187275G>C ENST00000439326.3 + 4 1515 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 10 453 0 0 1 0 0 TCN2 6948 broad.mit.edu 37 22 31011344 31011344 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr22:31011344C>T ENST00000215838.3 + 5 1131 c.637C>T c.(637-639)Cct>Tct p.P213S TCN2_ENST00000405742.3_Missense_Mutation_p.P209S|TCN2_ENST00000407817.3_Missense_Mutation_p.P186S P20062 TCO2_HUMAN transcobalamin II 213 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAACTTCAACCCTGGTCGGAG 0.557000 63 380 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91419516 91419516 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:91419516G>A ENST00000268171.3 + 3 488 c.209G>A c.(208-210)cGa>cAa p.R70Q NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 70 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TTCTGGCATCGAGGAGTGACG 0.657000 102 538 0 0 1 0 0 C10orf62 414157 broad.mit.edu 37 10 99350210 99350210 + Silent SNP C C A rs145450971 byFrequency TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:99350210C>A ENST00000370640.3 + 1 761 c.556C>A c.(556-558)Cgg>Agg p.R186R PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron NM_001009997.2 NP_001009997.2 Q5T681 CJ062_HUMAN chromosome 10 open reading frame 62 186 protein binding endometrium(2)|kidney(1)|lung(1) 4 Colorectal(252;0.162) Epithelial(162;9.58e-11)|all cancers(201;8.62e-09) CCTCACCCAGCGGGAAAACAC 0.567000 84 523 3.30373e-36 3.55307e-36 1 1 0 CDC42 998 broad.mit.edu 37 1 22405018 22405018 + Missense_Mutation SNP A A G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:22405018A>G ENST00000344548.3 + 3 298 c.47A>G c.(46-48)aAa>aGa p.K16R CDC42_ENST00000400259.1_Missense_Mutation_p.K16R|CDC42_ENST00000315554.8_Missense_Mutation_p.K16R|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000421089.2_5'UTR NM_001039802.1 NP_001034891.1 P60953 CDC42_HUMAN cell division cycle 42 16 actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4) 12 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) GCTGTTGGTAAAACATGTCTC 0.358000 75 347 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321614 52321614 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:52321614G>A ENST00000356297.4 - 17 2670 c.2570C>T c.(2569-2571)gCg>gTg p.A857V PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 857 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CATGCAGGGCGCGTGGGTGCC 0.682000 66 123 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801329 185801329 + Silent SNP A A G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:185801329A>G ENST00000302277.6 + 4 1800 c.1206A>G c.(1204-1206)tcA>tcG p.S402S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 402 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGGCCCCTTCAAATACTGAAG 0.388000 57 378 0 0 1 0 0 LPCAT3 10162 broad.mit.edu 37 12 7091020 7091020 + Missense_Mutation SNP C C A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr12:7091020C>A ENST00000261407.4 - 4 497 c.412G>T c.(412-414)Gat>Tat p.D138Y U47924.19_ENST00000564245.1_RNA NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 138 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17 CACTTGATATCGTAGTTGCCG 0.473000 10 402 0.00010058 0.00010177 1 1 0 TP53 7157 broad.mit.edu 37 17 7578254 7578254 + Nonsense_Mutation SNP C C A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:7578254C>A ENST00000420246.2 - 6 727 c.595G>T c.(595-597)Gga>Tga p.G199* TP53_ENST00000269305.4_Nonsense_Mutation_p.G199*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.G199*|TP53_ENST00000445888.2_Nonsense_Mutation_p.G199*|TP53_ENST00000455263.2_Nonsense_Mutation_p.G199*|TP53_ENST00000359597.4_Nonsense_Mutation_p.G199* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 199 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G199R(9)|p.0?(8)|p.?(5)|p.G199*(3)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGCAAATTTCCTTCCACTCGG 0.547000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 99 179 8.11351e-46 8.83701e-46 1 1 0 EPPK1 83481 broad.mit.edu 37 8 144945204 144945204 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:144945204C>T ENST00000525985.1 - 2 2289 c.2218G>A c.(2218-2220)Gtg>Atg p.V740M P58107 EPIPL_HUMAN epiplakin 1 740 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCACGTCCACGGGCACGCGG 0.657000 74 606 0 0 1 0 0 ESAM 90952 broad.mit.edu 37 11 124623837 124623837 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:124623837C>T ENST00000278927.5 - 7 1007 c.878G>A c.(877-879)cGg>cAg p.R293Q ESAM_ENST00000442070.2_Intron NM_138961.2 NP_620411.2 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule 293 blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) GGGCAGGGTCCGGGGAGCAAT 0.567000 39 105 0 0 1 0 0 AGPAT9 84803 broad.mit.edu 37 4 84508424 84508424 + Missense_Mutation SNP A A T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr4:84508424A>T ENST00000395226.2 + 5 714 c.496A>T c.(496-498)Att>Ttt p.I166F AGPAT9_ENST00000264409.4_Missense_Mutation_p.I166F NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 166 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) CTTGGCTTTCATTGGGATCAG 0.398000 182 501 0 0 1 0 0 ZNF649 65251 broad.mit.edu 37 19 52394736 52394736 + Missense_Mutation SNP T T C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:52394736T>C ENST00000354957.3 - 5 937 c.653A>G c.(652-654)aAg>aGg p.K218R ZNF649_ENST00000600738.1_Splice_Site_p.K218_splice|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) GAGCCTGTACTTCTTGTAGAA 0.483000 9 599 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270018 114270018 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr7:114270018G>A ENST00000393500.3 + 11 1150 c.330G>A c.(328-330)caG>caA p.Q110Q FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q O15409 FOXP2_HUMAN forkhead box P2 185 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcaacagcagcagcagc 0.502000 5 238 0 0 1 0 0 DUSP11 8446 broad.mit.edu 37 2 74007136 74007136 + Missense_Mutation SNP T T C rs2272051 by1000genomes TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:74007136T>C ENST00000443070.1 - 1 112 c.107A>G c.(106-108)gAc>gGc p.D36G DUSP11_ENST00000272444.3_Missense_Mutation_p.D36G|DUSP11_ENST00000377706.4_5'UTR O75319 DUS11_HUMAN dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) 0 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1) 12 CAATGCCAAGTCGGCCAAAAG 0.622000 OREG0014714 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 151 0 0 1 0 0 PCDHGA6 0 broad.mit.edu 37 5 140755877 140755877 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:140755877G>A ENST00000517434.1 + 1 2227 c.2227G>A c.(2227-2229)Gtg>Atg p.V743M PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 p.V743M(1) breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTGTGGGCGTGGAAGGGGT 0.612000 57 357 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7106623 7106623 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:7106623G>A ENST00000399510.2 - 9 1512 c.660C>T c.(658-660)ggC>ggT p.G220G DLG4_ENST00000399506.2_Silent_p.G177G|DLG4_ENST00000302955.6_Silent_p.G174G|DLG4_ENST00000485100.1_Silent_p.G174G NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 177 PDZ 2. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GGTTCCCTACGCCCCCTGCGA 0.587000 26 86 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5791629 5791629 + Missense_Mutation SNP C C A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:5791629C>A ENST00000328090.5 + 15 6870 c.6245C>A c.(6244-6246)tCt>tAt p.S2082Y NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 2082 CTTAGAAATTCTCAAAGAAAT 0.423000 6 258 0.0215528 0.0216795 1 1 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 17 61 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116729339 116729339 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:116729339G>A ENST00000375300.1 - 20 2703 c.2698C>T c.(2698-2700)Cgg>Tgg p.R900W SIK3_ENST00000488337.1_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.R842W Q9Y2K2 SIK3_HUMAN SIK family kinase 3 842 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GGGGAACCCCGGGACTGGTCC 0.567000 99 596 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218293 134218293 + Missense_Mutation SNP A A C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:134218293A>C ENST00000305233.5 + 2 348 c.289A>C c.(289-291)Acc>Ccc p.T97P PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 97 Pro-rich. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCCCGAGACCACCCGCCCCGA 0.756000 10 102 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634760 70634760 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:70634760C>T ENST00000381269.2 - 2 1133 c.380G>A c.(379-381)cGg>cAg p.R127Q SLC8A3_ENST00000528359.1_Missense_Mutation_p.R127Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R127Q|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R127Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R127Q NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 127 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) ATTCCAGACCCGAATAGTGGT 0.483000 48 294 0 0 1 0 0 NUTM2F 54754 broad.mit.edu 37 9 97082793 97082793 + Missense_Mutation SNP C C G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:97082793C>G ENST00000335456.7 - 5 1085 c.1065G>C c.(1063-1065)aaG>aaC p.K355N NUTM2F_ENST00000341207.4_Missense_Mutation_p.K355N|NUTM2F_ENST00000253262.4_Missense_Mutation_p.K355N NUT family member 2F p.K236N(5) GCAGGTGGGCCTTGGTCTCCG 0.706000 5 214 0 0 1 0 0 CORO2B 10391 broad.mit.edu 37 15 68937512 68937512 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:68937512C>T ENST00000543950.1 + 2 368 c.14C>T c.(13-15)cCg>cTg p.P5L CORO2B_ENST00000540068.1_Missense_Mutation_p.P5L|CORO2B_ENST00000261861.5_Missense_Mutation_p.P5L|CORO2B_ENST00000566799.1_Missense_Mutation_p.P10L NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 10 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TCCTGGCGTCCGCAATACCGT 0.622000 19 100 0 0 1 0 0 NRSN1 140767 broad.mit.edu 37 6 24146060 24146060 + Silent SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr6:24146060C>T ENST00000378491.4 + 4 775 c.474C>T c.(472-474)atC>atT p.I158I NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 158 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle p.I158I(1) breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 AAGAACGAATCGCAGACATCA 0.498000 47 243 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73675916 73675916 + Silent SNP T T C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:73675916T>C ENST00000264448.6 + 8 2370 c.2259T>C c.(2257-2259)acT>acC p.T753T ALMS1_ENST00000377715.1_Silent_p.T753T|ALMS1_ENST00000409009.1_Silent_p.T711T NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 753 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACCAGAAGACTGAGATACCAG 0.443000 148 1004 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 7 426 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471098 4471098 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:4471098G>A ENST00000325719.4 + 1 574 c.529G>A c.(529-531)Gct>Act p.A177T NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CCCAGTGATCGCTCACTGCTA 0.547000 100 520 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129290644 129290644 + Missense_Mutation SNP G G C rs150425885 byFrequency TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:129290644G>C ENST00000393239.1 - 16 3299 c.3121C>G c.(3121-3123)Ctg>Gtg p.L1041V PLXND1_ENST00000324093.4_Missense_Mutation_p.L1041V Q9Y4D7 PLXD1_HUMAN plexin D1 1041 IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GGAGCCGGCAGGGCCCCCTCA 0.662000 5 187 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 3 93 0 0 1 0 0 EPB42 2038 broad.mit.edu 37 15 43499591 43499591 + Missense_Mutation SNP G G A rs115972761 by1000genomes TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:43499591G>A ENST00000300215.3 - 9 1671 c.1214C>T c.(1213-1215)aCg>aTg p.T405M EPB42_ENST00000441366.2_Missense_Mutation_p.T375M|EPB42_ENST00000540029.1_Missense_Mutation_p.T297M P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 375 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) CAGCCCCAGCGTCCCCTCCTT 0.582000 46 163 0 0 1 0 0 PKDCC 91461 broad.mit.edu 37 2 42281326 42281326 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:42281326C>T ENST00000294964.5 + 3 1093 c.913C>T c.(913-915)Ccg>Tcg p.P305S NM_138370.2 NP_612379.2 Q504Y2 PKDCC_HUMAN protein kinase domain containing, cytoplasmic 305 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(2)|kidney(1)|lung(5) 8 GGAGGAGACGCCGTGTGCAGG 0.637000 11 54 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101289837 101289837 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr13:101289837G>A ENST00000342624.5 - 9 1212 c.954C>T c.(952-954)acC>acT p.T318T TMTC4_ENST00000376234.3_Silent_p.T299T|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Silent_p.T188T NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 299 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGTCCACCTCGGTGAAGGCCG 0.642000 165 365 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 5 113 0 0 1 0 0 FBXW5 54461 broad.mit.edu 37 9 139838442 139838442 + Missense_Mutation SNP C C G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:139838442C>G ENST00000325285.3 - 2 173 c.94G>C c.(94-96)Gtg>Ctg p.V32L FBXW5_ENST00000483559.1_5'UTR NM_018998.3 NP_061871.1 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 32 F-box. catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) TGGCGGCACACCAGCCCGGCG 0.701000 7 25 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754807 54754807 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:54754807G>A ENST00000450632.1 - 13 1905 c.1828C>T c.(1828-1830)Ccc>Tcc p.P610S LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 0 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGCAGCGGGGGAGAGTGAGA 0.622000 3 116 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129370592 129370592 + Missense_Mutation SNP T T A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:129370592T>A ENST00000393238.3 - 6 2034 c.1694A>T c.(1693-1695)cAg>cTg p.Q565L TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 565 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 CTGCTGCTGCTGCAGCTCCAT 0.572000 7 449 0 0 1 0 0 EED 8726 broad.mit.edu 37 11 85967469 85967469 + Missense_Mutation SNP G G C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:85967469G>C ENST00000263360.6 + 5 1153 c.467G>C c.(466-468)aGc>aCc p.S156T EED_ENST00000351625.6_Missense_Mutation_p.S156T|EED_ENST00000528180.1_Missense_Mutation_p.S156T|EED_ENST00000327320.4_Missense_Mutation_p.S156T NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 156 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) ACCTATGATAGCAATACGAGC 0.353000 44 286 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144808660 144808660 + Nonsense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:144808660G>A ENST00000388913.3 - 5 3096 c.2971C>T c.(2971-2973)Cag>Tag p.Q991* NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 991 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCGTTCTCCTGCGGCACTGGG 0.692000 29 103 0 0 1 0 0 XYLT2 64132 broad.mit.edu 37 17 48435627 48435627 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:48435627G>A ENST00000017003.2 + 10 2050 c.2001G>A c.(1999-2001)ggG>ggA p.G667G XYLT2_ENST00000507602.1_Intron NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 667 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) GGTTACTGGGGCCGCTGGACG 0.627000 29 133 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36053403 36053403 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:36053403G>A ENST00000262623.3 - 4 382 c.354C>T c.(352-354)gcC>gcT p.A118A NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 118 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) AGATGGCGGCGGCAACCCACA 0.657000 11 189 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772349 4772349 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:4772349C>T ENST00000378191.4 + 2 800 c.419C>T c.(418-420)gCg>gTg p.A140V AJAP1_ENST00000378190.3_Missense_Mutation_p.A140V NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 140 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) TCGTCCTCCGCGGTGGCCGGT 0.716000 10 34 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1264187 1264187 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:1264187C>T ENST00000447027.1 + 31 6144 c.6086C>T c.(6085-6087)aCg>aTg p.T2029M RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2026M Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2026 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|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) CTTACCGCCACGGCCACCACA 0.637000 11 910 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72830417 72830417 + Missense_Mutation SNP G G A rs144401383 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:72830417G>A ENST00000268489.5 - 9 6836 c.6164C>T c.(6163-6165)cCg>cTg p.P2055L ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1141L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2055 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CGGCTGAGGCGGCGCTGCCGG 0.662000 50 354 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A A C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:4619828A>C ENST00000269260.2 + 5 515 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000381488.6_Silent_p.P79P NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 13 131 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 6 271 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285491 16285491 + Silent SNP C C T rs16962973 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:16285491C>T ENST00000302182.3 + 2 662 c.270C>T c.(268-270)acC>acT p.T90T UBB_ENST00000395837.1_Silent_p.T90T|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 90 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AGACCATCACCCTGGAAGTGG 0.552000 6 421 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328017 57328017 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:57328017C>T ENST00000326441.9 - 10 2156 c.1793G>A c.(1792-1794)cGt>cAt p.R598H PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 598 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R598H(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) ttcacgttcacgttcatgttc 0.458000 54 246 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63472339 63472339 + Silent SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:63472339C>T ENST00000377819.5 + 2 313 c.159C>T c.(157-159)tcC>tcT p.S53S RTN3_ENST00000537981.1_Intron|RTN3_ENST00000538995.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Silent_p.S53S|RTN3_ENST00000339997.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Intron NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 53 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 TTGTTTCTTCCTCTTCCTCTC 0.363000 127 385 0 0 1 0 0 GLB1 2720 broad.mit.edu 37 3 33038656 33038656 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:33038656C>T ENST00000307363.5 - 16 2059 c.1915G>A c.(1915-1917)Gtg>Atg p.V639M GLB1_ENST00000445488.2_Missense_Mutation_p.V687M|GLB1_ENST00000399402.3_Missense_Mutation_p.V609M|GLB1_ENST00000307377.8_Missense_Mutation_p.V508M NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 639 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) GGCCTGTCCACGAACGTCACA 0.527000 74 386 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) 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) tgctgctgctgctactgctgc 0.537000 T MLL ALL 8 235 0 0 1 0 0 NTF3 4908 broad.mit.edu 37 12 5603687 5603687 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr12:5603687C>T ENST00000423158.3 + 2 558 c.346C>T c.(346-348)Cgg>Tgg p.R116W NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R103W NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 103 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 CAACTCACCGCGGGTCCTGCT 0.642000 53 358 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81654605 81654605 + Missense_Mutation SNP A A G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:81654605A>G ENST00000558726.1 - 4 485 c.350T>C c.(349-351)gTg>gCg p.V117A TMC3_ENST00000359440.5_Missense_Mutation_p.V117A Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 117 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 GAAGATGACCACAAAGTTACA 0.478000 6 116 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 6 200 0 0 1 0 0 DCAF17 80067 broad.mit.edu 37 2 172330428 172330428 + Missense_Mutation SNP T T A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:172330428T>A ENST00000375255.3 + 10 1361 c.1034T>A c.(1033-1035)aTc>aAc p.I345N DCAF17_ENST00000539783.1_Intron|DCAF17_ENST00000468592.1_3'UTR NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 345 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 TCTGACTGGATCTATTTCCAT 0.348000 32 242 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151155880 151155880 + Missense_Mutation SNP C C A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:151155880C>A ENST00000282466.3 - 6 6468 c.6469G>T c.(6469-6471)Gac>Tac p.D2157Y IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2157 Ig-like C2-type 8. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACAGCTGTGTCTCCAGCTTTG 0.443000 69 432 1.43675e-24 1.51657e-24 1 1 0 HSD3B1 3283 broad.mit.edu 37 1 120056677 120056677 + Silent SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:120056677C>T ENST00000235547.6 + 4 676 c.537C>T c.(535-537)ggC>ggT p.G179G HSD3B1_ENST00000528909.1_Silent_p.G177G|HSD3B1_ENST00000369413.3_Silent_p.G177G NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 177 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TGAAAAACGGCGGCACCCTGT 0.512000 89 353 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108636151 108636151 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chrX:108636151G>A ENST00000218006.2 - 13 2849 c.2558C>T c.(2557-2559)aCg>aTg p.T853M NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 853 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 AAGCTTTTCCGTTTTCTGTTT 0.383000 108 235 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5415859 5415859 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr18:5415859G>A ENST00000341928.2 - 13 2365 c.2025C>T c.(2023-2025)agC>agT p.S675S EPB41L3_ENST00000342933.3_Silent_p.S675S|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 675 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 CTAGGGAGGCGCTCAAGGAGG 0.577000 71 239 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35695516 35695516 + Silent SNP G G T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:35695516G>T ENST00000373664.3 - 5 631 c.565C>A c.(565-567)Cgg>Agg p.R189R RBL1_ENST00000344359.3_Silent_p.R189R NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 189 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) CCAATCATCCGAAAATTACCT 0.353000 41 254 2.95478e-19 3.0809e-19 1 1 0 CELF6 60677 broad.mit.edu 37 15 72579635 72579635 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:72579635G>A ENST00000287202.5 - 12 1671 c.1417C>T c.(1417-1419)Cgg>Tgg p.R473W CELF6_ENST00000543764.2_Missense_Mutation_p.R336W|CELF6_ENST00000539635.1_Missense_Mutation_p.R334W|CELF6_ENST00000395258.2_Missense_Mutation_p.R360W|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.R446W|RP11-106M3.2_ENST00000379915.4_RNA NM_052840.4 NP_443072.3 Q96J87 CELF6_HUMAN CUGBP, Elav-like family member 6 473 RRM 3. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2) 13 TCCTTGGGCCGCTTTAGCTGG 0.517000 75 301 0 0 1 0 0 IGHA1 0 broad.mit.edu 37 14 106174855 106174855 + RNA SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:106174855C>T ENST00000390547.2 - 0 147 AAGTTTCTGGCGGTCACGCCC 0.657000 43 240 0 0 1 0 0 GLMN 11146 broad.mit.edu 37 1 92737124 92737124 + Missense_Mutation SNP A A G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:92737124A>G ENST00000370360.3 - 8 902 c.821T>C c.(820-822)tTt>tCt p.F274S GLMN_ENST00000534881.1_Missense_Mutation_p.F274S NM_053274.2 NP_444504.1 Q92990 GLMN_HUMAN glomulin, FKBP associated protein 274 Poly-Glu. muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 17 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) TTCTTCTTCAAATTCAAGGTA 0.353000 Multiple Glomus Tumors (of the Skin), Familial 82 355 0 0 1 0 0 GZMM 3004 broad.mit.edu 37 19 547332 547332 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:547332G>A ENST00000264553.3 + 2 146 c.108G>A c.(106-108)tcG>tcA p.S36S NM_001258351.1|NM_005317.3 NP_001245280.1|NP_005308.1 P51124 GRAM_HUMAN granzyme M (lymphocyte met-ase 1) 36 Peptidase S1. apoptosis|cytolysis|innate immune response|proteolysis extracellular region serine-type endopeptidase activity endometrium(1)|large_intestine(1)|prostate(1) 3 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TCCCCCACTCGCGCCCGTACA 0.667000 27 551 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 4 85 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 8 481 0 0 1 0 0 SRPK1 6732 broad.mit.edu 37 6 35810348 35810348 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr6:35810348C>T ENST00000373825.2 - 14 1939 c.1654G>A c.(1654-1656)Gaa>Aaa p.E552K SRPK1_ENST00000423325.2_Missense_Mutation_p.E536K|SRPK1_ENST00000373822.1_Missense_Mutation_p.E444K Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 552 Protein kinase. cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.E551Q(1) endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 GAATGAGGTTCAAACAAATAG 0.418000 28 130 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57769548 57769548 + Silent SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:57769548G>A ENST00000371030.2 + 1 3474 c.3474G>A c.(3472-3474)acG>acA p.T1158T NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1158 intracellular nucleic acid binding|zinc ion binding p.T1158T(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ACTCAGGGACGTCCCGGAGCC 0.672000 84 477 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89977223 89977223 + Silent SNP T T C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:89977223T>C ENST00000405460.2 + 27 5712 c.5616T>C c.(5614-5616)ttT>ttC p.F1872F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1872 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGTCACTCTTTGTCAGTGGAA 0.423000 28 131 0 0 1 0 0 RNF145 153830 broad.mit.edu 37 5 158601072 158601072 + Missense_Mutation SNP A A T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:158601072A>T ENST00000424310.2 - 6 1075 c.716T>A c.(715-717)tTt>tAt p.F239Y RNF145_ENST00000518802.1_Missense_Mutation_p.F269Y|RNF145_ENST00000521606.2_Missense_Mutation_p.F256Y|RNF145_ENST00000520638.1_Missense_Mutation_p.F253Y|RNF145_ENST00000274542.2_Missense_Mutation_p.F267Y|RNF145_ENST00000519865.1_Missense_Mutation_p.F239Y NM_001199383.1 NP_001186312.1 Q96MT1 RN145_HUMAN ring finger protein 145 239 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGAAGAGCAAATAAGACGAG 0.428000 5 213 0 0 1 0 0 BFAR 51283 broad.mit.edu 37 16 14749057 14749057 + Missense_Mutation SNP G G C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:14749057G>C ENST00000261658.2 + 5 1050 c.773G>C c.(772-774)tGg>tCg p.W258S BFAR_ENST00000426842.2_Missense_Mutation_p.W130S|BFAR_ENST00000563971.1_Missense_Mutation_p.W133S NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 258 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 CAGAATCTCTGGGAATATAAG 0.333000 124 334 0 0 1 0 0 STAP2 55620 broad.mit.edu 37 19 4328730 4328730 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:4328730G>A ENST00000600324.1 - 6 599 c.532C>T c.(532-534)Cgg>Tgg p.R178W STAP2_ENST00000594605.1_Missense_Mutation_p.R178W NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 178 SH2. cytoplasm|nucleus protein binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CCGCTGGGCCGCAGCAGCAGG 0.711000 3 74 0 0 1 0 0 C9orf89 84270 broad.mit.edu 37 9 95875280 95875280 + Missense_Mutation SNP A A G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:95875280A>G ENST00000375464.2 + 6 571 c.443A>G c.(442-444)aAg>aGg p.K148R C9orf89_ENST00000488630.1_3'UTR NM_032310.3 NP_115686.3 Q96LW7 BINCA_HUMAN chromosome 9 open reading frame 89 155 negative regulation of I-kappaB kinase/NF-kappaB cascade cytosol|nucleus CARD domain binding endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 CTAGACCCCAAGGGCCTGCCA 0.602000 3 91 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101716827 101716827 + Missense_Mutation SNP G G T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:101716827G>T ENST00000342239.3 - 4 495 c.404C>A c.(403-405)tCc>tAc p.S135Y DNMBP_ENST00000324109.4_Missense_Mutation_p.S135Y|DNMBP-AS1_ENST00000434409.1_RNA Q6XZF7 DNMBP_HUMAN dynamin binding protein 135 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GGCGCTCTGGGAGTGCCACTG 0.617000 18 157 4.35082e-09 4.48187e-09 1 1 0 AXIN1 8312 broad.mit.edu 37 16 347159 347159 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:347159C>T ENST00000262320.3 - 7 2223 c.1852G>A c.(1852-1854)Gag>Aag p.E618K AXIN1_ENST00000354866.3_Missense_Mutation_p.E618K NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 618 Interaction with PPP2CA.|Interaction with RNF111. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CCTGGCACCTCGGTGCTGGCG 0.612000 340 1160 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171687567 171687567 + Missense_Mutation SNP G G T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:171687567G>T ENST00000358196.3 + 5 962 c.412G>T c.(412-414)Gtg>Ttg p.V138L GAD1_ENST00000344257.5_Missense_Mutation_p.V138L|GAD1_ENST00000375272.1_Missense_Mutation_p.V138L|GAD1_ENST00000429023.1_3'UTR NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 138 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTCCACCAAGGTGCTGGACTT 0.547000 57 374 1.33661e-31 1.41963e-31 1 1 0 ATAD5 79915 broad.mit.edu 37 17 29167753 29167753 + Missense_Mutation SNP C C G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:29167753C>G ENST00000321990.4 + 4 2573 c.2195C>G c.(2194-2196)tCt>tGt p.S732C CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 732 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGGCGCTCCTCTAGACATCAG 0.348000 74 427 0 0 1 0 0 NMT1 4836 broad.mit.edu 37 17 43174523 43174523 + Silent SNP C C A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:43174523C>A ENST00000592782.1 + 7 755 c.624C>A c.(622-624)ccC>ccA p.P208P NMT1_ENST00000258960.2_Silent_p.P208P|NMT1_ENST00000590114.1_Intron P30419 NMT1_HUMAN N-myristoyltransferase 1 208 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) GCTGGCTCCCCCAGTGGCACT 0.597000 OREG0024469 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 92 568 3.06722e-38 3.31958e-38 1 1 0 HEXIM1 10614 broad.mit.edu 37 17 43226570 43226570 + Missense_Mutation SNP T T C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:43226570T>C ENST00000332499.2 + 1 1887 c.13T>C c.(13-15)Ttc>Ctc p.F5L NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 5 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGCCGAGCCATTCTTGTCAGA 0.458000 OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 215 459 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967157 23967157 + Missense_Mutation SNP A A G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:23967157A>G ENST00000335694.4 - 2 296 c.92T>C c.(91-93)aTg>aCg p.M31T GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 31 gamma-glutamyltransferase activity p.M31T(6) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 GTCATCCGGCATGTAGAACTC 0.622000 10 516 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37692836 37692836 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:37692836G>A ENST00000412232.2 + 12 1766 c.1753G>A c.(1753-1755)Gag>Aag p.E585K GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 585 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) ACCTGAGCCCGAGCCCCCAGC 0.687000 16 100 0 0 1 0 0 MIR323A 0 broad.mit.edu 37 14 101492098 101492098 + RNA SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:101492098G>A ENST00000362199.1 + 0 30 NR_029890.1 GGTCCGTGGCGCGTTCGCTTT 0.537000 9 621 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000394161.5_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 11 897 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10882008 10882008 + Nonsense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr6:10882008G>A ENST00000379491.4 - 1 166 c.19C>T c.(19-21)Cag>Tag p.Q7* RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 7 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) ACCGCTTCCTGCACCGCGGCC 0.602000 34 169 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95080911 95080911 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:95080911G>A ENST00000553947.1 + 5 1096 c.208G>A c.(208-210)Gtg>Atg p.V70M SERPINA3_ENST00000467132.1_Missense_Mutation_p.V45M|SERPINA3_ENST00000393080.4_Missense_Mutation_p.V45M|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Missense_Mutation_p.V45M P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 45 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity p.V45M(1) NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AGGGACACACGTGGACCTCGG 0.572000 118 629 0 0 1 0 0 RGMA 56963 broad.mit.edu 37 15 93588562 93588562 + Missense_Mutation SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:93588562C>T ENST00000329082.7 - 4 1290 c.1019G>A c.(1018-1020)cGc>cAc p.R340H RGMA_ENST00000556658.1_Missense_Mutation_p.R231H|RGMA_ENST00000538818.1_Missense_Mutation_p.R231H|RGMA_ENST00000543599.1_Missense_Mutation_p.R324H|RGMA_ENST00000425933.2_Missense_Mutation_p.R324H|RGMA_ENST00000542321.2_Missense_Mutation_p.R324H|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000557301.1_Missense_Mutation_p.R348H NM_020211.2 NP_064596.2 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 340 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 9 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) TGCCAGCCTGCGGGCACCGGT 0.672000 34 44 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:23544783C>T ENST00000300619.7 - 4 1203 c.998G>A c.(997-999)cGt>cAt p.R333H ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 333 R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333H(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393000 9 660 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318571 43318571 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:43318571G>A ENST00000374518.4 + 20 3201 c.3138G>A c.(3136-3138)atG>atA p.M1046I NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1046 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.M1046I(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTAGGGAATGTTTAATTCTG 0.393000 9 618 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117062960 117062960 + Missense_Mutation SNP G G A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:117062960G>A ENST00000356083.3 + 51 5085 c.4694G>A c.(4693-4695)gGc>gAc p.G1565D NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1565 Collagen-like 16.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GGGCCACCTGGCTTGATGGTG 0.612000 30 150 0 0 1 0 0 CIAO1 9391 broad.mit.edu 37 2 96933171 96933171 + Silent SNP C C T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:96933171C>T ENST00000488633.1 + 2 471 c.252C>T c.(250-252)acC>acT p.T84T CIAO1_ENST00000469320.1_3'UTR NM_004804.2 NP_004795.1 O76071 CIAO1_HUMAN cytosolic iron-sulfur protein assembly 1 84 chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 5 TTGATGCTACCACTTGCATTT 0.552000 137 399 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 13 230 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7811329 7811329 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:7811329delA ENST00000303635.7 + 20 4967 c.4760delA c.(4759-4761)cafs p.Q1587fs CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs|CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1587 IQ 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.K1589fs*33(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TACTATGAACAAAAAAAATTC 0.473 T WWTR1 epitheliod hemangioendothelioma 9 1098 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 9 1187 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCATCTGCTACTGTTTTTTTCA 0.455 11 949 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 8 561 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 9 978 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 9 467 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 14 1590 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 13 193 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 9 288 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 63 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 11 509 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcg>gc p.AE30del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 10 623 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176762724 176762724 + Frame_Shift_Del DEL C C - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:176762724delC ENST00000367662.3 + 20 6213 c.5049delC c.(5047-5049)atfs p.I1683fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTGTGTAATCCCCCCCAGTG 0.468 7 767 --- --- --- --- AXDND1 126859 broad.mit.edu 37 1 179337955 179337955 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:179337955delA ENST00000367618.3 + 3 505 c.118delA c.(118-120)aafs p.K41fs AXDND1_ENST00000457238.2_Frame_Shift_Del_p.K41fs|AXDND1_ENST00000461179.2_Intron NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 41 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GCTAAAGGAGAAAAAAAATAT 0.378 7 353 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276524 186276526 + In_Frame_Del DEL AGG AGG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:186276524_186276526delAGG ENST00000445192.2 + 7 1718_1720 c.1673_1675delAGG c.(1672-1677)aag>a p.KE558del PRG4_ENST00000367486.3_In_Frame_Del_p.KE515del|PRG4_ENST00000367485.4_In_Frame_Del_p.KE465del|PRG4_ENST00000367483.4_In_Frame_Del_p.KE517del|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 558 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCACCACCAAGGAGCCTGCACC 0.635 7 498 --- --- --- --- IRF6 3664 broad.mit.edu 37 1 209974763 209974764 + Splice_Site INS - - G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:209974763_209974764insG ENST00000367021.3 - 3 170 c.e3-2 IRF6_ENST00000542854.1_Intron NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) GGCCATGATCTGGGGGGGTCAG 0.594 HNSCC(57;0.16) 7 497 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000469606.1_5'UTR NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954 Gln-rich. snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 7 1059 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 9 367 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 10 196 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 9 954 --- --- --- --- RAB11FIP5 26056 broad.mit.edu 37 2 73315337 73315339 + In_Frame_Del DEL TGG TGG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:73315337_73315339delTGG ENST00000258098.6 - 3 1647_1649 c.1407_1409delCCA c.(1405-1410)caa>ca p.HQ469del RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 469 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 ACTTAGGCCTTGGTGGTGGTGGT 0.635 9 953 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 8 197 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 9 470 --- --- --- --- ERCC3 2071 broad.mit.edu 37 2 128046944 128046946 + In_Frame_Del DEL TCT TCT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:128046944_128046946delTCT ENST00000493187.2 - 6 1060_1062 c.597_599delAGA c.(595-600)gag>ga p.EE199del ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 263 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGTCTGTGTCTCTTCTTCTTCTT 0.473 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 342 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152550847 152550847 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:152550847delT ENST00000397345.3 - 20 2088 c.1886delA c.(1885-1887)acfs p.N629fs NEB_ENST00000172853.10_Frame_Shift_Del_p.N629fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.N629fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.N629fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.N629fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.N629fs NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 629 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ATCACTCTGGTTTTTGGCCAC 0.403 8 1119 --- --- --- --- FKBP7 51661 broad.mit.edu 37 2 179343217 179343217 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:179343217delT ENST00000424785.2 - 1 68 c.10delA c.(10-12)ccfs p.T4fs FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs NM_001135212.1|NM_181342.2 NP_001128684.1|NP_851939.1 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 4 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AAATGCATGGTTTTTGGCATC 0.522 12 1188 --- --- --- --- CERKL 0 broad.mit.edu 37 2 182403897 182403899 + In_Frame_Del DEL TCC TCC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:182403897_182403899delTCC ENST00000410087.3 - 12 1558_1560 c.1458_1460delGGA c.(1456-1461)gat>ga p.ED486del CERKL_ENST00000374969.2_In_Frame_Del_p.ED373del|CERKL_ENST00000374970.2_In_Frame_Del_p.ED417del|CERKL_ENST00000339098.5_In_Frame_Del_p.ED512del|CERKL_ENST00000409440.3_In_Frame_Del_p.ED468del NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 512 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) AGCAGTTTCATCCTCCTCCTCCT 0.369 7 791 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - rs140194798 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:196788374delT ENST00000312428.6 - 23 3870 c.3770delA c.(3769-3771)atfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCGCTAATATTTTTTTTTAC 0.418 18 442 --- --- --- --- GTF3C3 9330 broad.mit.edu 37 2 197649613 197649614 + Frame_Shift_Ins INS - - T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:197649613_197649614insT ENST00000263956.3 - 8 1170_1171 c.1081_1082insA c.(1081-1083)ttcfs p.F361fs GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 361 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTCTTCTGAAGTTTTTTTTTCC 0.337 8 296 --- --- --- --- ALPI 248 broad.mit.edu 37 2 233320926 233320928 + In_Frame_Del DEL TGC TGC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr2:233320926_233320928delTGC ENST00000295463.3 + 1 94_96 c.17_19delTGC c.(16-21)gtg>g p.VL6del NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 6 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) GGGCCCTGGGTGCTGCTGCTGCT 0.660 8 240 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 7 871 --- --- --- --- HHATL 57467 broad.mit.edu 37 3 42739670 42739672 + In_Frame_Del DEL GAA GAA - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:42739670_42739672delGAA ENST00000441594.1 - 6 916_918 c.655_657delTTC c.(655-657)del p.F219del HHATL_ENST00000310417.5_In_Frame_Del_p.F219del NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 219 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) TGATGGGCCCGAAGAAGAAGAAG 0.552 8 498 --- --- --- --- DNAH12 201625 broad.mit.edu 37 3 57509313 57509313 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:57509313delT ENST00000351747.2 - 4 456 c.276delA c.(274-276)aafs p.K92fs DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 92 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.G93fs*7(2) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 AACTCACTCCTTTTTTTTTCA 0.254 14 213 --- --- --- --- DPPA4 55211 broad.mit.edu 37 3 109049606 109049606 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:109049606delT ENST00000335658.6 - 5 498 c.444delA c.(442-444)aafs p.K148fs DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 148 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CCACCTTTAATTTTTTTTGCA 0.413 8 667 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 20 652 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:186362544delA ENST00000265029.3 + 4 530 c.429delA c.(427-429)tcfs p.S143fs RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000539949.1_5'UTR|RP11-134F2.2_ENST00000455926.1_RNA NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 143 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAACAGTTTCAAAAAAAAAGA 0.418 17 717 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194181471 194181473 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr3:194181471_194181473delGAG ENST00000439040.1 - 4 930_932 c.139_141delCTC c.(139-141)del p.L47del ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del Q9H7F0 AT133_HUMAN ATPase type 13A3 47 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCATCCAATAGAGGAGGAGGAGG 0.463 8 880 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 12 471 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 10 265 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 10 584 --- --- --- --- C4orf17 84103 broad.mit.edu 37 4 100443782 100443782 + Frame_Shift_Del DEL T T - rs13119384 byFrequency TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr4:100443782delT ENST00000514652.1 + 3 607 c.253delT c.(253-255)ccfs p.S86fs C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Frame_Shift_Del_p.S86fs Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 86 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) CAGTTACCCCTCCAGCACTGC 0.498 26 447 --- --- --- --- RRH 10692 broad.mit.edu 37 4 110756541 110756541 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr4:110756541delT ENST00000317735.4 + 3 351 c.317delT c.(316-318)atfs p.I106fs NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 106 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) GGATTGAATATTTTTTTTGGA 0.393 11 460 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 8 280 --- --- --- --- MYO10 4651 broad.mit.edu 37 5 16694605 16694606 + Frame_Shift_Ins INS - - C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:16694605_16694606insC ENST00000513610.1 - 27 4128_4129 c.3674_3675insG c.(3673-3675)gtcfs p.V1225fs MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1225 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity p.S1226fs*25(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GCGTGGAGGAGCCCCCCCCTTT 0.564 8 558 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:24492973delA ENST00000264463.4 - 10 2084 c.1577delT c.(1576-1578)tcfs p.F526fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTAAACTGAAAAAAAATTT 0.313 HNSCC(23;0.051) 10 1268 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388715 44388717 + In_Frame_Del DEL AGC AGC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:44388715_44388717delAGC ENST00000264664.4 - 1 182_184 c.68_70delGCT c.(67-72)ttt>t p.CF23del NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 23 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGCAACAAAAAGCAGCAGCAGCA 0.537 8 421 --- --- --- --- ANKRD55 79722 broad.mit.edu 37 5 55466557 55466558 + Frame_Shift_Ins INS - - G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:55466557_55466558insG ENST00000341048.4 - 5 536_537 c.385_386insC c.(385-387)gccfs p.A129fs ANKRD55_ENST00000513241.2_Frame_Shift_Ins_p.A100fs|ANKRD55_ENST00000504958.2_Frame_Shift_Ins_p.A129fs NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 128 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) ATGCAGTGGCAGGCGGCCATTT 0.490 9 816 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:140032593_140032594delGA ENST00000417647.2 + 5 407_408 c.268_269delGA c.(268-270)gfs p.E90fs IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.460 12 287 --- --- --- --- CSF1R 1436 broad.mit.edu 37 5 149447806 149447808 + In_Frame_Del DEL AGC AGC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:149447806_149447808delAGC ENST00000286301.3 - 11 1887_1889 c.1596_1598delGCT c.(1594-1599)ctc>ct p.LL536del NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 536 L -> V (in dbSNP:rs55942044). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) Tagcagcaggagcagcagcagca 0.596 7 501 --- --- --- --- CANX 821 broad.mit.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr5:179149920delT ENST00000247461.4 + 11 1498 c.1298delT c.(1297-1299)atfs p.I433fs CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs|CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 433 SDI -> LTF (in Ref. 9; AAA35696). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTCTGACATTTTTTTTGAC 0.423 8 498 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 7 432 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384091 26384093 + In_Frame_Del DEL CCT CCT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr6:26384091_26384093delCCT ENST00000356709.4 + 2 153_155 c.42_44delCCT c.(40-45)tcc>tc p.SL14del BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 14 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGCCAGCCTCcctcctcctcctc 0.581 15 550 --- --- --- --- GPX5 2880 broad.mit.edu 37 6 28493824 28493824 + Frame_Shift_Del DEL C C - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr6:28493824delC ENST00000412168.2 + 1 123 c.34delC c.(34-36)ccfs p.P12fs GPX6_ENST00000483058.1_Intron|GPX5_ENST00000469384.1_Frame_Shift_Del_p.P12fs NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 12 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) CCATCTGCTTCCCCTTCTCCT 0.498 185 1033 --- --- --- --- TRIM26 7726 broad.mit.edu 37 6 30157254 30157254 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr6:30157254delT ENST00000454678.2 - 8 1281 c.845delA c.(844-846)agfs p.K282fs TRIM26_ENST00000453195.1_Frame_Shift_Del_p.K282fs|TRIM26_ENST00000437089.1_Frame_Shift_Del_p.K282fs NM_003449.4 NP_003440.1 Q12899 TRI26_HUMAN tripartite motif containing 26 282 DNA binding|zinc ion binding p.K282fs*16(1) lung(1)|ovary(2) 3 TTCTCCGGTCTTTTTTTTAAC 0.483 8 512 --- --- --- --- HLA-DRB1 3123 broad.mit.edu 37 6 32549374 32549393 + Frame_Shift_Del DEL CACTTGGCAGGTGTAAACCT CACTTGGCAGGTGTAAACCT - rs34938122 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr6:32549374_32549393delCACTTGGCAGGTGTAAACCT ENST00000360004.5 - 3 698_717 c.593_612delAGGTTTACACCTGCCAAGTG c.(592-612)gfs p.EVYTCQV198fs NM_002124.3 NP_002115.2 major histocompatibility complex, class II, DR beta 1 large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 10 TTGGGTGCTCCACTTGGCAGGTGTAAACCTCTCCACTTCG 0.536 Multiple Myeloma(14;0.17) 7 865 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 14 238 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755219 146755221 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr6:146755219_146755221delGAG ENST00000361719.2 + 9 3342_3344 c.2872_2874delGAG c.(2872-2874)del p.E961del GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.E961del|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 961 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTACAACGTAGAGGAGGAGGAGG 0.586 7 755 --- --- --- --- MAP3K4 4216 broad.mit.edu 37 6 161469776 161469776 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr6:161469776delA ENST00000392142.4 + 3 620 c.472delA c.(472-474)aafs p.K159fs MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.K159fs NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 159 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.N160fs*8(2) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GCGTGATCGTAAAAAAAATGT 0.403 13 588 --- --- --- --- ZDHHC4 55146 broad.mit.edu 37 7 6621848 6621849 + Frame_Shift_Ins INS - - T rs34551853 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr7:6621848_6621849insT ENST00000396706.2 + 5 779_780 c.336_337insT c.(334-339)ctttttfs p.LF112fs ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 112 integral to membrane acyltransferase activity|zinc ion binding p.F115fs*3(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GTGTAAACCTGTTTTTTTTCAC 0.450 8 1189 --- --- --- --- RPA3 6119 broad.mit.edu 37 7 7679952 7679952 + Splice_Site DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr7:7679952delT ENST00000223129.4 - 5 1269 c.99_splice c.e5+1 p.K33_splice RPA3_ENST00000406109.1_Intron|RPA3_ENST00000396682.2_Splice_Site_p.K33_splice NM_002947.3 NP_002938.1 P35244 RFA3_HUMAN replication protein A3, 14kDa 33 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair cytoplasm|DNA replication factor A complex|nucleoplasm protein binding|single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.202) CCCGCACACCTTTTCCAGCCT 0.577 Direct reversal of damage;Nucleotide excision repair (NER) 8 883 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150817 65150817 + RNA DEL C C - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr7:65150817delC ENST00000430126.2 + 0 757 TCATCCCTCACCCCCCCCCCC 0.468 8 110 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 9 316 --- --- --- --- CYP51A1 1595 broad.mit.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr7:91752494delT ENST00000003100.8 - 7 1191 c.1026delA c.(1024-1026)aafs p.K342fs LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 336 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTAAATAACATTTTTTTTGAA 0.398 10 826 --- --- --- --- JHDM1D 0 broad.mit.edu 37 7 139790972 139790972 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr7:139790972delT ENST00000397560.2 - 20 2845 c.2748delA c.(2746-2748)aafs p.K916fs NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 916 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TTGCCATTCCTTTTTTTGGAC 0.428 7 474 --- --- --- --- PRSS1 5644 broad.mit.edu 37 7 142460792 142460794 + In_Frame_Del DEL AGA AGA - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr7:142460792_142460794delAGA ENST00000486171.1 + 6 724_726 c.707_709delAGA c.(706-711)cag>c p.QK236del PRSS1_ENST00000311737.7_In_Frame_Del_p.QK222del P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 222 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GGCTGTGCCCAGAAGAACAAGCC 0.507 75 495 --- --- --- --- ERICH1-AS1 0 broad.mit.edu 37 8 697955 697956 + RNA INS - - G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:697955_697956insG ENST00000520816.1 + 0 162 ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA tgcggtgggatggggggctctg 0.752 3 5 --- --- --- --- PRSS51 0 broad.mit.edu 37 8 10382836 10382837 + RNA INS - - ATG rs35196071 by1000genomes TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:10382836_10382837insATG ENST00000523024.1 - 0 156 ttatcagcaacACTCAGGAAGC 0.510 5 1 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron P11686 PSPC_HUMAN surfactant protein C 44 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTTCTTATCGTGGTGGTGGTGG 0.601 11 737 --- --- --- --- NUGGC 389643 broad.mit.edu 37 8 27888776 27888776 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:27888776delT ENST00000413272.2 - 15 2034 c.1892delA c.(1891-1893)atfs p.N631fs NUGGC_ENST00000341513.6_Frame_Shift_Del_p.N631fs NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GATCAGGAAATTTTTTTTGCA 0.453 12 937 --- --- --- --- PXDNL 137902 broad.mit.edu 37 8 52359596 52359596 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:52359596delT ENST00000356297.4 - 12 1593 c.1493delA c.(1492-1494)agfs p.K498fs PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 498 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CACAGACACCTTTTTCACCCC 0.448 8 1642 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 14 1789 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 9 426 --- --- --- --- DCAF13 25879 broad.mit.edu 37 8 104439486 104439487 + Frame_Shift_Ins INS - - T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:104439486_104439487insT ENST00000521971.1 + 4 590_591 c.510_511insT c.(508-513)atttttfs p.IF170fs DCAF13_ENST00000297579.5_Intron|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000519682.1_Frame_Shift_Ins_p.IF206fs Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 TTGAGGTAATGTTTTTTTTTAA 0.277 7 336 --- --- --- --- ANXA13 312 broad.mit.edu 37 8 124707762 124707762 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:124707762delT ENST00000262219.6 - 7 641 c.574delA c.(574-576)tcfs p.I192fs ANXA13_ENST00000419625.1_Frame_Shift_Del_p.I151fs NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 151 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) GACACCAGGATTTTTTTTAGG 0.413 11 1392 --- --- --- --- MYC 4609 broad.mit.edu 37 8 128750605 128750607 + In_Frame_Del DEL CAG CAG - rs61752959 byFrequency TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:128750605_128750607delCAG ENST00000377970.2 + 2 652_654 c.142_144delCAG c.(142-144)del p.Q52del MYC_ENST00000259523.6_In_Frame_Del_p.Q37del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 37 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q33H(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GAACTTCTACCAGCAGCAGCAGC 0.611 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 561 --- --- --- --- AGO2 27161 broad.mit.edu 37 8 141554345 141554345 + Frame_Shift_Del DEL G G - rs148575703 byFrequency TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:141554345delG ENST00000220592.5 - 14 1918 c.1806delC c.(1804-1806)ccfs p.P602fs AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CATCCCCGGCGGGGGGGTGAG 0.647 7 1413 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 15 760 --- --- --- --- SCRIB 23513 broad.mit.edu 37 8 144890900 144890902 + In_Frame_Del DEL TCC TCC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr8:144890900_144890902delTCC ENST00000356994.2 - 15 1998_2000 c.1992_1994delGGA c.(1990-1995)gaa>ga p.EE664del SCRIB_ENST00000377533.3_In_Frame_Del_p.EE583del|SCRIB_ENST00000320476.3_In_Frame_Del_p.EE664del NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 664 Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) actaccctcttcctcctcctcct 0.665 7 277 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 18 875 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20414278 20414280 + In_Frame_Del DEL CTG CTG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:20414278_20414280delCTG ENST00000380338.4 - 5 850_852 c.564_566delCAG c.(562-567)agt>ag p.SS188del MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.SS185del NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) 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) ACTGGTActactgctgctgctgc 0.507 T MLL ALL 11 641 --- --- --- --- HNRNPK 3190 broad.mit.edu 37 9 86586806 86586808 + In_Frame_Del DEL GGT GGT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:86586806_86586808delGGT ENST00000376263.3 - 11 1165_1167 c.942_944delACC c.(940-945)cct>cc p.PP314del HNRNPK_ENST00000376264.2_In_Frame_Del_p.PP314del|HNRNPK_ENST00000351839.3_In_Frame_Del_p.PP314del|HNRNPK_ENST00000360384.5_In_Frame_Del_p.PP314del|HNRNPK_ENST00000376281.4_In_Frame_Del_p.PP314del NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 314 2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 CCCCCCTCTAGGTGGTGGTGGTG 0.522 8 609 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 7 659 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 13 295 --- --- --- --- SETX 23064 broad.mit.edu 37 9 135203911 135203913 + In_Frame_Del DEL TCA TCA - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:135203911_135203913delTCA ENST00000372169.2 - 10 3254_3256 c.3072_3074delTGA c.(3070-3075)gaa>ga p.DE1024del SETX_ENST00000224140.5_In_Frame_Del_p.DE1024del|SETX_ENST00000393220.1_In_Frame_Del_p.DE1024del Q7Z333 SETX_HUMAN senataxin 1024 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CAGGATTCTTTCATCATCATCAT 0.369 7 707 --- --- --- --- C9orf69 90120 broad.mit.edu 37 9 139008444 139008446 + In_Frame_Del DEL CAG CAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:139008444_139008446delCAG ENST00000561457.1 - 2 825_827 c.375_377delCTG c.(373-378)tgg>tg p.CW125del C9orf69_ENST00000418388.1_In_Frame_Del_p.L101del NM_152833.2 NP_690046.3 chromosome 9 open reading frame 69 endometrium(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06) GCCGGCGGCCCAGCAGCAGCAGC 0.685 8 128 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr9:140087025_140087027delTCC ENST00000409012.4 - 2 1928_1930 c.1842_1844delGGA c.(1840-1845)gaa>ga p.EE620del TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 620 Glu-rich. sensory perception of sound stereocilium p.E315delE(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 ctcttcctcttcctcctcctcct 0.596 7 118 --- --- --- --- ABI1 10006 broad.mit.edu 37 10 27040624 27040626 + In_Frame_Del DEL TGG TGG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:27040624_27040626delTGG ENST00000355394.4 - 11 1478_1480 c.1255_1257delCCA c.(1255-1257)del p.P419del ABI1_ENST00000359188.4_In_Frame_Del_p.P390del|ABI1_ENST00000376138.3_In_Frame_Del_p.P362del|ABI1_ENST00000376160.1_In_Frame_Del_p.P385del|ABI1_ENST00000376142.2_In_Frame_Del_p.P418del|ABI1_ENST00000490841.2_In_Frame_Del_p.P239del|ABI1_ENST00000376137.4_In_Frame_Del_p.P333del|ABI1_ENST00000346832.5_In_Frame_Del_p.P406del|ABI1_ENST00000376140.3_In_Frame_Del_p.P391del|ABI1_ENST00000376170.4_In_Frame_Del_p.P361del|ABI1_ENST00000376139.2_In_Frame_Del_p.P386del|ABI1_ENST00000376166.1_In_Frame_Del_p.P356del|ABI1_ENST00000376134.3_In_Frame_Del_p.P392del|ABI1_ENST00000536334.1_In_Frame_Del_p.P304del Q8IZP0 ABI1_HUMAN abl-interactor 1 418 actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CATAATCCACTGGTGGTGGTGGT 0.478 7 302 --- --- --- --- KCNMA1 3778 broad.mit.edu 37 10 78771791 78771791 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:78771791delA ENST00000286627.5 - 18 2978 c.2026delT c.(2026-2028)acfs p.Y676fs KCNMA1_ENST00000354353.5_Frame_Shift_Del_p.Y676fs|KCNMA1_ENST00000286628.8_Frame_Shift_Del_p.Y676fs|KCNMA1_ENST00000372443.1_Frame_Shift_Del_p.Y676fs|KCNMA1_ENST00000372440.1_Frame_Shift_Del_p.Y676fs|KCNMA1_ENST00000404857.1_Frame_Shift_Del_p.Y676fs|KCNMA1_ENST00000406533.3_Frame_Shift_Del_p.Y680fs|KCNMA1_ENST00000404771.3_Frame_Shift_Del_p.Y676fs NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 676 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) GCCTTGCAGTAAAAAAATGCC 0.428 7 442 --- --- --- --- SCD 6319 broad.mit.edu 37 10 102107836 102107838 + In_Frame_Del DEL ACC ACC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:102107836_102107838delACC ENST00000370355.2 + 2 424_426 c.43_45delACC c.(43-45)del p.T19del NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 19 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) TAGCTCCTATACCACCACCACCA 0.581 17 885 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103917043 103917045 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:103917043_103917045delGAG ENST00000405356.1 + 3 509_511 c.274_276delGAG c.(274-276)del p.E96del NOLC1_ENST00000603742.1_Intron|NOLC1_ENST00000605788.1_In_Frame_Del_p.E96del|NOLC1_ENST00000488254.2_In_Frame_Del_p.E97del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 96 11 X 12 AA approximate repeats of an acidic serine cluster. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) GGACAGCAGCGAGGAGGAGGAGG 0.537 7 277 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 9 830 --- --- --- --- AFAP1L2 84632 broad.mit.edu 37 10 116062107 116062107 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:116062107delT ENST00000369271.3 - 12 1721 c.1421delA c.(1420-1422)acfs p.N474fs AFAP1L2_ENST00000304129.4_Frame_Shift_Del_p.N474fs|AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 474 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) CAAGAGAGAGTTTTTGGCCGC 0.547 7 1287 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 15 1028 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129913974 129913974 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr10:129913974delT ENST00000368654.3 - 7 1073 c.698delA c.(697-699)atfs p.N233fs MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 233 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGGAGATTCATTTTTTTTGCT 0.343 10 316 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 21 796 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 18 786 --- --- --- --- CCDC73 493860 broad.mit.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:32635951delT ENST00000335185.5 - 16 1956 c.1913delA c.(1912-1914)atfs p.N638fs NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 638 p.N638fs*18(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TGGAACAGGATTTTTTTTTAT 0.313 11 217 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:35513670delC ENST00000378880.2 - 3 747 c.302delG c.(301-303)gtfs p.G101fs PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000534803.1_5'UTR NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 ATCCAAGGTACCCCCCCATGA 0.517 7 1458 --- --- --- --- MYBPC3 4607 broad.mit.edu 37 11 47359101 47359103 + In_Frame_Del DEL TCT TCT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:47359101_47359103delTCT ENST00000399249.2 - 24 2495_2497 c.2441_2443delAGA c.(2440-2445)agc>a p.KS814del MYBPC3_ENST00000545968.1_In_Frame_Del_p.KS814del|MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 813 Fibronectin type-III 1. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CACCGGTAGCTCTTCTTCTTCTT 0.601 7 417 --- --- --- --- OR8I2 120586 broad.mit.edu 37 11 55861308 55861308 + Frame_Shift_Del DEL T T - rs112181516 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:55861308delT ENST00000302124.2 + 1 556 c.525delT c.(523-525)cafs p.H175fs OR8I2_ENST00000560768.1_Frame_Shift_Del_p.H175fs Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C178fs*2(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GCATCAATCATTTTTTTTGTG 0.443 10 1010 --- --- --- --- FADS2 9415 broad.mit.edu 37 11 61607885 61607887 + In_Frame_Del DEL TCC TCC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:61607885_61607887delTCC ENST00000278840.4 + 3 1028_1030 c.398_400delTCC c.(397-402)ttc>t p.FL133del FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del|FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 133 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CACGTGTTCTTCCTCCTCCTCCT 0.537 11 1208 --- --- --- --- CDC42BPG 55561 broad.mit.edu 37 11 64606354 64606355 + Frame_Shift_Ins INS - - G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:64606354_64606355insG ENST00000342711.5 - 8 895_896 c.896_897insC c.(895-897)cgafs p.R299fs NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 299 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CAGGCACGTCCGGGGGGAACTG 0.668 7 295 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:119149356_119149358delATG ENST00000264033.4 + 9 1740_1742 c.1364_1366delATG c.(1363-1368)tat>t p.YD455del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 455 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCCAAATTATGATGATGATGA 0.473 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 12 417 --- --- --- --- CHEK1 1111 broad.mit.edu 37 11 125505377 125505378 + Frame_Shift_Ins INS - - A rs35817404 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr11:125505377_125505378insA ENST00000534070.1 + 7 922_923 c.667_668insA c.(667-669)aaafs p.K223fs CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. E -> V (in dbSNP:rs35817404). cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGACTGGAAAGAAAAAAAAACA 0.361 Other conserved DNA damage response genes 30 806 --- --- --- --- PLCZ1 89869 broad.mit.edu 37 12 18841025 18841025 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr12:18841025delT ENST00000447925.2 - 13 1852 c.1583delA c.(1582-1584)atfs p.N528fs PLCZ1_ENST00000534932.1_Frame_Shift_Del_p.N11fs|PLCZ1_ENST00000538330.1_Frame_Shift_Del_p.N312fs|PLCZ1_ENST00000539875.1_Frame_Shift_Del_p.N337fs|PLCZ1_ENST00000435379.1_Frame_Shift_Del_p.N335fs|PLCZ1_ENST00000541695.1_Frame_Shift_Del_p.N393fs|PLCZ1_ENST00000266505.7_Frame_Shift_Del_p.N530fs NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 530 C2. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GAGCTCACCATTTTTTTTAAT 0.294 8 535 --- --- --- --- ESPL1 9700 broad.mit.edu 37 12 53683876 53683877 + Frame_Shift_Del DEL TG TG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr12:53683876_53683877delTG ENST00000257934.4 + 23 5212_5213 c.5121_5122delTG c.(5119-5124)actgfs p.TV1707fs ESPL1_ENST00000552462.1_Frame_Shift_Del_p.TV1707fs NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1707 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CAGGGGTGACTGTGTGTGTGTT 0.569 7 299 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 8 929 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr12:57605740_57605742delTGC ENST00000243077.3 + 87 13755_13757 c.13289_13291delTGC c.(13288-13293)ttg>t p.LL4432del NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4432 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCTGCTGTTGCTGCTGCTGCT 0.557 13 793 --- --- --- --- B4GALNT1 2583 broad.mit.edu 37 12 58025102 58025103 + Frame_Shift_Ins INS - - C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr12:58025102_58025103insC ENST00000341156.4 - 3 847_848 c.263_264insG c.(262-264)gctfs p.A88fs B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 88 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.G88fs*24(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GGAGGGGGAGGCCCCCCCCACT 0.589 17 620 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 331 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 11 446 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27250862 27250863 + Splice_Site DEL GT GT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr13:27250862_27250863delGT ENST00000335327.5 + 7 894 c.e7+1 WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGATACTAGGTGTGTGTGTGT 0.475 9 521 --- --- --- --- GSX1 219409 broad.mit.edu 37 13 28367927 28367929 + In_Frame_Del DEL GGC GGC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr13:28367927_28367929delGGC ENST00000302945.2 + 2 685_687 c.637_639delGGC c.(637-639)del p.G218del NM_145657.1 NP_663632.1 Q9H4S2 GSX1_HUMAN GS homeobox 1 218 Poly-Gly. positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) CAACCATCgtggcggcggcggcg 0.631 12 346 --- --- --- --- LRCH1 23143 broad.mit.edu 37 13 47243183 47243186 + Frame_Shift_Del DEL CCTG CCTG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr13:47243183_47243186delCCTG ENST00000311191.6 + 3 700_703 c.471_474delCCTG c.(469-474)gcfs p.AL157fs LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389798.3_Frame_Shift_Del_p.AL157fs NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 157 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) AGCTGTCCGCCCTGCCTGCCTGCC 0.436 9 1010 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 26 602 --- --- --- --- CPNE6 9362 broad.mit.edu 37 14 24545608 24545608 + Frame_Shift_Del DEL C C - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:24545608delC ENST00000397016.2 + 13 1409 c.1098delC c.(1096-1098)atfs p.I366fs CPNE6_ENST00000537691.1_Frame_Shift_Del_p.I421fs|CPNE6_ENST00000216775.2_Frame_Shift_Del_p.I366fs O95741 CPNE6_HUMAN copine VI (neuronal) 366 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) GGGCTCGAATCCCCCCCAACT 0.602 7 943 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 10 126 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 9 147 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514337 75514338 + Frame_Shift_Ins INS - - T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:75514337_75514338insT ENST00000355774.2 - 2 2236_2237 c.2021_2022insA c.(2020-2022)atgfs p.M674fs MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Frame_Shift_Ins_p.M674fs|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.M674fs|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.M674fs NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 674 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TCGTTCTGCAATTTTTTTTGTT 0.347 Mismatch excision repair (MMR) 10 460 --- --- --- --- FLVCR2 55640 broad.mit.edu 37 14 76112753 76112755 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:76112753_76112755delGAG ENST00000238667.4 + 10 1875_1877 c.1519_1521delGAG c.(1519-1521)del p.E511del FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000539311.1_In_Frame_Del_p.E306del|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000555027.1_In_Frame_Del_p.E226del|FLVCR2_ENST00000556856.1_In_Frame_Del_p.RG69del NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 511 Poly-Glu. transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) GAAACTCCAAGAGGAGGAGGAGG 0.542 7 371 --- --- --- --- EML1 2009 broad.mit.edu 37 14 100367334 100367334 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:100367334delT ENST00000262233.6 + 9 1105 c.966delT c.(964-966)ggfs p.G322fs EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs|EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 322 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TTGGAATAGGTTTTTTTGACC 0.428 8 909 --- --- --- --- IGHV3-23 0 broad.mit.edu 37 14 106725714 106725715 + RNA INS - - G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr14:106725714_106725715insG ENST00000390609.2 - 0 18_19 ATCCCAGGGCTGGGCTCCTCTC 0.500 7 245 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25310192 25310193 + RNA INS - - A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:25310192_25310193insA ENST00000549804.2 + 0 538 SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA ATGAGTCCTCCAAAAAAAACAT 0.475 7 792 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25481201 25481201 + RNA DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:25481201delT ENST00000453082.2 + 0 1934 NR_003343.1 CCACTGGAAGTTTTTTTTGCG 0.512 13 863 --- --- --- --- MEIS2 4212 broad.mit.edu 37 15 37385874 37385874 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:37385874delT ENST00000338564.5 - 7 993 c.547delA c.(547-549)tgfs p.M183fs MEIS2_ENST00000382766.2_Frame_Shift_Del_p.M183fs|MEIS2_ENST00000340545.5_Frame_Shift_Del_p.M170fs|MEIS2_ENST00000397624.3_Frame_Shift_Del_p.M95fs|MEIS2_ENST00000444725.1_Frame_Shift_Del_p.M183fs|MEIS2_ENST00000559561.1_Frame_Shift_Del_p.M183fs|MEIS2_ENST00000424352.2_Frame_Shift_Del_p.M183fs|MEIS2_ENST00000561208.1_Frame_Shift_Del_p.M183fs|MEIS2_ENST00000397620.2_Frame_Shift_Del_p.M95fs|MEIS2_ENST00000219869.9_Frame_Shift_Del_p.M37fs|MEIS2_ENST00000557796.2_Frame_Shift_Del_p.M170fs|MEIS2_ENST00000559085.1_Frame_Shift_Del_p.M170fs NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 183 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TCGATGGGCATTTTCCCCTTC 0.478 7 866 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:42742957delA ENST00000263805.4 - 2 1770 c.1444delT c.(1444-1446)ccfs p.S482fs ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TCTCCAGGGGAAAAAAAATTT 0.393 7 1115 --- --- --- --- TTBK2 146057 broad.mit.edu 37 15 43038023 43038024 + Frame_Shift_Ins INS - - T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:43038023_43038024insT ENST00000267890.6 - 15 3812_3813 c.3704_3705insA c.(3703-3705)aagfs p.K1235fs NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1235 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CTGGCTTACTCTTCCCTTGGGG 0.535 11 943 --- --- --- --- TTBK2 146057 broad.mit.edu 37 15 43038025 43038026 + Frame_Shift_Ins INS - - C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:43038025_43038026insC ENST00000267890.6 - 15 3810_3811 c.3702_3703insG c.(3700-3705)ggagagfs p.E1235fs NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1235 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GGCTTACTCTTCCCTTGGGGGG 0.540 16 953 --- --- --- --- SPG11 80208 broad.mit.edu 37 15 44905698 44905698 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:44905698delT ENST00000261866.7 - 17 3091 c.3075delA c.(3073-3075)aafs p.K1025fs SPG11_ENST00000427534.2_Frame_Shift_Del_p.K1025fs|SPG11_ENST00000558319.1_Frame_Shift_Del_p.K1025fs|SPG11_ENST00000535302.2_Frame_Shift_Del_p.K1025fs NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1025 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CATGTAACTCTTTTTTTTCCA 0.328 11 261 --- --- --- --- CGNL1 84952 broad.mit.edu 37 15 57744359 57744360 + Frame_Shift_Del DEL AG AG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:57744359_57744360delAG ENST00000281282.5 + 6 2004_2005 c.1926_1927delAG c.(1924-1929)gaagfs p.EE642fs NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 642 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) ACATTAAAGAAGAGAGAGAGAG 0.441 7 291 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64972995 64972997 + In_Frame_Del DEL CAC CAC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:64972995_64972997delCAC ENST00000326648.3 + 7 4224_4226 c.4096_4098delCAC c.(4096-4098)del p.H1371del NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1371 Poly-His. nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GATGTCCACACACCACCACCACC 0.591 10 873 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 8 46 --- --- --- --- BRICD5 283870 broad.mit.edu 37 16 2260586 2260588 + In_Frame_Del DEL CAG CAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:2260586_2260588delCAG ENST00000328540.3 - 2 1231_1233 c.115_117delCTG c.(115-117)del p.L39del BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGGCcagcaccagcagcagcagc 0.660 8 205 --- --- --- --- NPIPA1 9284 broad.mit.edu 37 16 15045758 15045759 + Frame_Shift_Ins INS - - GT TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:15045758_15045759insGT ENST00000328085.6 + 8 929_930 c.929_930insGT c.(928-930)gtgfs p.V310fs NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 ACACCTCCCGAGTGTCTGCTCA 0.559 8 717 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30736370 30736371 + Frame_Shift_Ins INS - - C TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:30736370_30736371insC ENST00000262518.4 + 25 6010_6011 c.5625_5626insC c.(5623-5628)caccccfs p.HP1875fs SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1875 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTCGACGCCAGCCCCCCCCACC 0.569 22 1057 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 12 961 --- --- --- --- RP11-439I14.2 0 broad.mit.edu 37 16 64770704 64770705 + RNA INS - - CCAGTGATGGTCACCT rs140029302 by1000genomes TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:64770704_64770705insCCAGTGATGGTCACCT ENST00000564293.1 + 0 453_454 TGTCACCACTGCCACCTTGTTC 0.371 12 23 --- --- --- --- RANBP10 57610 broad.mit.edu 37 16 67763279 67763281 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:67763279_67763281delGAG ENST00000317506.3 - 10 1369_1371 c.1254_1256delCTC c.(1252-1257)tcg>tc p.SS420del RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 420 Ser-rich. p.S418S(2) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaagaggacgaggaggaggagg 0.567 11 267 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATCTAATcaacagcagcagcagc 0.473 11 392 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 10 453 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 13 1254 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7798765 7798765 + Frame_Shift_Del DEL C C - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:7798765delC ENST00000380358.4 + 10 1790 c.1789delC c.(1789-1791)ccfs p.P598fs CHD3_ENST00000358181.4_Frame_Shift_Del_p.P539fs|CHD3_ENST00000330494.7_Frame_Shift_Del_p.P539fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 539 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) AGATGTCCCACCCCCCCGTCC 0.577 7 592 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 10 488 --- --- --- --- TMEM97 27346 broad.mit.edu 37 17 26653806 26653807 + Frame_Shift_Ins INS - - A TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:26653806_26653807insA ENST00000226230.6 + 3 663_664 c.518_519insA c.(517-519)aaafs p.K173fs TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.K66fs|TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.K66fs NM_014573.2 NP_055388.2 Q5BJF2 TMM97_HUMAN transmembrane protein 97 173 cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding p.K176fs?(1) endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 6 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GAAGAGAAAAGAAAAAAAAAAT 0.441 19 258 --- --- --- --- KIAA0100 9703 broad.mit.edu 37 17 26966334 26966334 + Splice_Site DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:26966334delT ENST00000528896.2 - 11 1302 c.1229_splice c.e11+1 p.R410_splice KIAA0100_ENST00000389003.3_Splice_Site_p.R267_splice|KIAA0100_ENST00000544884.1_Splice_Site_p.R267_splice NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 410 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CAGACTGACCTTTTTTTCCTT 0.438 7 644 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 7 316 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGTTCTATCAAAAAAAACCC 0.368 11 423 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 23 229 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 48 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTGCTCGAAAGGAGGAGGAGGA 0.596 10 523 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 13 456 --- --- --- --- PRR11 55771 broad.mit.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:57247171delA ENST00000262293.4 + 2 370 c.58delA c.(58-60)aafs p.K22fs NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 22 p.E23fs*9(3)|p.E23fs*46(1) breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) AAGATTATTCAAAAAAAAAGA 0.363 11 391 --- --- --- --- MED13 9969 broad.mit.edu 37 17 60033826 60033826 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:60033826delT ENST00000397786.2 - 24 5573 c.5497delA c.(5497-5499)gtfs p.S1834fs NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1834 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTAGCAGAACTTTTTTTCCGA 0.363 7 513 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 14 1138 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61901501 61901503 + In_Frame_Del DEL TCC TCC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:61901501_61901503delTCC ENST00000427159.2 - 12 1740_1742 c.1095_1097delGGA c.(1093-1098)gaa>ga p.EE365del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 365 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GTTCAGTTGTtcctcctcctcct 0.562 8 1011 --- --- --- --- CD300A 11314 broad.mit.edu 37 17 72469711 72469712 + Frame_Shift_Ins INS - - GC TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:72469711_72469712insGC ENST00000360141.3 + 2 365_366 c.77_78insGC c.(76-78)gccfs p.A26fs CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 26 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 ACCGTGGCGGGCCCCGTGGGGG 0.569 12 723 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr17:78201649_78201651delTGC ENST00000361193.3 + 7 906_908 c.626_628delTGC c.(625-630)atg>a p.ML209del SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 209 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTGGTCTGCATGCTGCTGCTGCT 0.675 11 808 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47812275 47812277 + In_Frame_Del DEL CTG CTG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr18:47812275_47812277delCTG ENST00000285106.6 - 5 1195_1197 c.481_483delCAG c.(481-483)del p.Q161del CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del|CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 161 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 ACCGTTTGATctgctgctgctgc 0.557 13 214 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 16 991 --- --- --- --- SLC25A41 284427 broad.mit.edu 37 19 6433605 6433605 + Frame_Shift_Del DEL G G - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:6433605delG ENST00000321510.6 - 1 168 c.100delC c.(100-102)aafs p.Q34fs NM_173637.3 NP_775908.2 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 34 Pro-rich. transmembrane transport integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 6 ggcggaggttgggggggaggc 0.577 7 423 --- --- --- --- CCDC151 115948 broad.mit.edu 37 19 11541818 11541818 + Frame_Shift_Del DEL A A - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:11541818delA ENST00000356392.4 - 2 354 c.267delT c.(265-267)ttfs p.F89fs CCDC151_ENST00000591179.1_Frame_Shift_Del_p.F89fs|CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000545100.1_Frame_Shift_Del_p.F35fs NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 89 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 GAGAGCTCTCAAAAAAAGCCT 0.537 7 1047 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 13 1308 --- --- --- --- ARHGEF1 0 broad.mit.edu 37 19 42408394 42408396 + In_Frame_Del DEL CTG CTG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:42408394_42408396delCTG ENST00000599846.1 + 23 2313_2315 c.2188_2190delCTG c.(2188-2190)del p.L734del ARHGEF1_ENST00000347545.4_In_Frame_Del_p.L645del|ARHGEF1_ENST00000337665.4_In_Frame_Del_p.L693del|ARHGEF1_ENST00000354532.3_In_Frame_Del_p.L678del|ARHGEF1_ENST00000378152.4_In_Frame_Del_p.L660del Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 678 PH. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GCTGGACGACCTGCTGCTGCTGC 0.700 8 239 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 16 570 --- --- --- --- SPIB 6689 broad.mit.edu 37 19 50926984 50926985 + Frame_Shift_Ins INS - - G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:50926984_50926985insG ENST00000595883.1 + 5 487_488 c.462_463insG c.(460-465)gcgcccfs p.P155fs SPIB_ENST00000596074.1_3'UTR|SPIB_ENST00000270632.7_Frame_Shift_Ins_p.P155fs|SPIB_ENST00000597855.1_3'UTR|SPIB_ENST00000439922.2_Frame_Shift_Ins_p.P64fs NM_001243999.1|NM_001244000.1|NM_003121.4 NP_001230928.1|NP_001230929.1|NP_003112.2 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 155 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CCCTCGTGGCTGGCCCCGAGGG 0.668 8 110 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54649671 54649671 + Frame_Shift_Del DEL T T - rs36665 byFrequency TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:54649671delT ENST00000406403.1 + 8 2332 c.729delT c.(727-729)ccfs p.P244fs CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs|CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 244 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCACCTCCCCTCCCAGCCACA 0.632 7 581 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 10 320 --- --- --- --- KIR2DL4 0 broad.mit.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - rs148484482 TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:55324675delA ENST00000396284.2 + 6 796 c.796delA c.(796-798)aafs p.K268fs KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000357494.4_Intron killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 p.M271fs*>3(1) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTGGTGCTCCAAAAAAAAAGT 0.532 8 207 --- --- --- --- PPP1R12C 54776 broad.mit.edu 37 19 55607462 55607462 + Frame_Shift_Del DEL C C - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr19:55607462delC ENST00000263433.3 - 8 1125 c.1110delG c.(1108-1110)ggfs p.G370fs PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.G370fs|PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.G296fs NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 370 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GGATGGGGGGCCCCCCAGCCC 0.647 7 471 --- --- --- --- CD93 22918 broad.mit.edu 37 20 23065523 23065523 + Frame_Shift_Del DEL C C - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:23065523delC ENST00000246006.4 - 1 1454 c.1307delG c.(1306-1308)gcfs p.G436fs NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 436 EGF-like 5; calcium-binding (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCAGAGGGGGCCCCCCGGGCC 0.637 7 781 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 11 274 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58452518 58452519 + Frame_Shift_Ins INS - - T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:58452518_58452519insT ENST00000357552.3 - 33 3296_3297 c.3071_3072insA c.(3070-3072)atafs p.I1024fs SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1024 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GATCTTTATAGTTTTTTTTTGT 0.327 10 329 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58490593 58490593 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:58490593delT ENST00000357552.3 - 9 751 c.526delA c.(526-528)tgfs p.M176fs SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M176fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 176 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ATAGCATTCATTTTTTTTATA 0.289 7 685 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 15 835 --- --- --- --- MYT1 4661 broad.mit.edu 37 20 62839333 62839335 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr20:62839333_62839335delGAG ENST00000536311.1 + 7 1148_1150 c.784_786delGAG c.(784-786)del p.E273del MYT1_ENST00000328439.1_In_Frame_Del_p.E273del|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 273 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) agaggaggacgaggaggaggagg 0.596 8 121 --- --- --- --- SCAF4 57466 broad.mit.edu 37 21 33043971 33043972 + Frame_Shift_Del DEL TC TC - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr21:33043971_33043972delTC ENST00000286835.7 - 20 3566_3567 c.3184_3185delGA c.(3184-3186)tfs p.D1062fs SCAF4_ENST00000399804.1_Frame_Shift_Del_p.D1040fs|SCAF4_ENST00000434667.3_Frame_Shift_Del_p.D1047fs NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 1062 nucleus nucleotide binding|RNA binding p.D1062Y(1) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 ATCTCTAGAATCTCTCTCTCTG 0.525 9 809 --- --- --- --- CBR3 874 broad.mit.edu 37 21 37510175 37510175 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr21:37510175delT ENST00000290354.5 + 2 623 c.342delT c.(340-342)aafs p.N114fs CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA NM_001236.3 NP_001227.1 O75828 CBR3_HUMAN carbonyl reductase 3 114 cytosol|nucleus carbonyl reductase (NADPH) activity|NADPH binding kidney(1)|large_intestine(1)|lung(1) 3 TGAAGACAAATTTTTTTGCCA 0.408 8 834 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918817 20918819 + In_Frame_Del DEL CAG CAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr22:20918817_20918819delCAG ENST00000263205.7 + 6 601_603 c.532_534delCAG c.(532-534)del p.Q188del MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 188 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) ggcggcgctacagcagcagcagc 0.626 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 106 --- --- --- --- MTMR3 8897 broad.mit.edu 37 22 30415991 30415991 + Frame_Shift_Del DEL C C - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr22:30415991delC ENST00000333027.3 + 17 2671 c.2343delC c.(2341-2343)gtfs p.V781fs MTMR3_ENST00000323630.5_Frame_Shift_Del_p.V645fs|MTMR3_ENST00000401950.2_Frame_Shift_Del_p.V781fs|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Frame_Shift_Del_p.V781fs|MTMR3_ENST00000406629.1_Frame_Shift_Del_p.V781fs NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 781 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CTCTCCAGGTCCCCCCCAGGG 0.552 7 766 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr22:36689419_36689421delCCT ENST00000216181.5 - 30 4279_4281 c.4049_4051delAGG c.(4048-4053)gcc>g p.EA1350del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1350 E -> EE (in Ref. 7). actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGTGCTTGGCCTCCTCCTCCTC 0.650 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 9 506 --- --- --- --- DNAJB7 150353 broad.mit.edu 37 22 41257114 41257115 + Frame_Shift_Ins INS - - T TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr22:41257114_41257115insT ENST00000307221.4 - 1 1015_1016 c.884_885insA c.(883-885)aaafs p.K295fs XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 295 Poly-Lys. protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 CTTTACGCTTCTTTTTTTTCCT 0.381 7 481 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 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 11 1000 --- --- --- --- MLC1 23209 broad.mit.edu 37 22 50506871 50506872 + Frame_Shift_Ins INS - - G TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chr22:50506871_50506872insG ENST00000311597.5 - 10 1490_1491 c.884_885insC c.(883-885)cgcfs p.R295fs MLC1_ENST00000395876.2_Frame_Shift_Ins_p.R295fs|MLC1_ENST00000535444.1_Frame_Shift_Ins_p.R216fs|MLC1_ENST00000538737.1_Frame_Shift_Ins_p.R261fs|MLC1_ENST00000450140.2_Frame_Shift_Ins_p.R243fs|MLC1_ENST00000431262.2_Frame_Shift_Ins_p.R265fs|MLC1_ENST00000483836.1_5'UTR NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 295 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CTTTTATGGCTGGCGGGTAATC 0.525 11 699 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 7 228 --- --- --- --- ARMCX3 51566 broad.mit.edu 37 X 100880152 100880154 + In_Frame_Del DEL TGA TGA - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chrX:100880152_100880154delTGA ENST00000341189.4 + 5 1049_1051 c.183_185delTGA c.(181-186)tct>tc p.SD61del ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 61 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 ATGACTGGTCTGATGATGATGAT 0.517 7 631 --- --- --- --- SPANXN2 494119 broad.mit.edu 37 X 142803692 142803692 + Frame_Shift_Del DEL T T - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chrX:142803692delT ENST00000370498.1 - 1 824 c.71delA c.(70-72)atfs p.N24fs NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 24 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.443 10 465 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-IB-7890-01A-12D-2201-08 TCGA-IB-7890-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbc96e9-990e-4cc9-98c9-14fffe83ed87 e2f62463-40b9-41ef-9ffb-ad2fe036c920 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 8 101 --- --- --- ---