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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut ELK3 2004 broad.mit.edu 37 12 96653537 96653537 + Missense_Mutation SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr12:96653537G>A uc001teo.1 + 3 1310 c.1031G>A c.(1030-1032)aGt>aAt p.S344N NM_005230 NP_005221 P41970 ELK3_HUMAN Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA. 344 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.P343L(1) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) CTGACTCCGAGTCCACTGCTC 0.527000 74 38 0 0 0.004289 0 0 DDX20 11218 broad.mit.edu 37 1 112308358 112308358 + Splice_Site SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:112308358G>A uc001ebs.3 + 11 1670 c.1313_splice c.e11-1 p.D438_splice DDX20_uc010owf.2_Splice_Site_p.D200_splice|DDX20_uc001ebt.3_Splice_Site_p.D46_splice NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA. 438 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding p.?(1) endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTTTATGTAGATCCCATTCC 0.348000 107 61 0 0 0.003610 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729629 37729629 + Silent SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr8:37729629G>A uc003xkm.2 - 3 2747 c.2691C>T c.(2689-2691)gtC>gtT p.V897V RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Silent_p.V226V|RAB11FIP1_uc003xko.1_Silent_p.V226V|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA. 897 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding p.V897V(2) NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CACTCATGGGGACTTCGGAGA 0.597000 59 21 0 0 0.001523 0 0 ZNF609 23060 broad.mit.edu 37 15 64792343 64792343 + Missense_Mutation SNP T C C TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr15:64792343T>C uc002ann.3 + 0 725 c.725T>C c.(724-726)cTa>cCa p.L242P ZNF609_uc010bgy.3_Missense_Mutation_p.L242P NM_015042 NP_055857 O15014 ZN609_HUMAN Homo sapiens zinc finger protein 609 (ZNF609), mRNA. 242 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 TGTCGCCTGCTAAAGAAAGTC 0.517000 31 11 0 0 0.000673 0 0 BSN 8927 broad.mit.edu 37 3 49690423 49690423 + Missense_Mutation SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr3:49690423G>A uc003cxe.4 + 4 3548 c.3434G>A c.(3433-3435)cGg>cAg p.R1145Q NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 1145 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGCCCTAGCCGGCTTTACAAG 0.612000 66 13 0 0 0.001855 0 0 EDN3 1908 broad.mit.edu 37 20 57896118 57896118 + Missense_Mutation SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr20:57896118G>A uc002yap.3 + 2 781 c.412G>A c.(412-414)Ggc>Agc p.G138S EDN3_uc002yao.1_Missense_Mutation_p.G138S|EDN3_uc002yaq.3_Missense_Mutation_p.G138S|EDN3_uc002yar.3_Missense_Mutation_p.G138S|EDN3_uc002yas.3_Missense_Mutation_p.G138S NM_000114 NP_996917 P14138 EDN3_HUMAN Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA. 138 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) AAGCTTCCGGGGCAAGAGGTC 0.597000 77 32 0 0 0.003271 0 0 HMCN1 83872 broad.mit.edu 37 1 185704142 185704142 + Silent SNP T A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:185704142T>A uc001grq.1 + 0 460 c.231T>A c.(229-231)ccT>ccA p.P77P NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 77 VWFA. response to stimulus|visual perception basement membrane calcium ion binding p.R76K(1)|p.P77T(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTAAAAGACCTCTTTTCAACT 0.368000 81 34 0 0 0.004878 0 0 MYO15A 51168 broad.mit.edu 37 17 18023082 18023082 + Missense_Mutation SNP C T T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr17:18023082C>T uc021trm.1 + 0 1187 c.968C>T c.(967-969)tCg>tTg p.S323L MYO15A_uc021trl.1_Missense_Mutation_p.S323L NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 323 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCGGGGTACTCGTCTCCTTAC 0.607000 68 21 0 0 0.001882 0 0 FAM217A 222826 broad.mit.edu 37 6 4069856 4069856 + Missense_Mutation SNP C T T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr6:4069856C>T uc003mvx.3 - 6 1007 c.601G>A c.(601-603)Gat>Aat p.D201N FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.D138N NM_173563 NP_775834 Q8IXS0 CF146_HUMAN Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA. 201 TCACTTTCATCTGTGAAATTT 0.323000 103 34 0 0 0.002445 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A G G rs138671696 by1000genomes TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr17:62968690A>G uc002jez.3 - 3 c.641T>C AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA. AAAATTCCACAAGTCTCTTGG 0.373000 119 5 0 0 0.000602 0 0 SAMSN1 64092 broad.mit.edu 37 21 15884826 15884826 + Silent SNP C T T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr21:15884826C>T uc002yju.1 - 3 430 c.348G>A c.(346-348)gaG>gaA p.E116E SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Silent_p.E184E NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA. 116 negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GGGACACCTTCTCTGTGTGGG 0.478000 144 61 0 0 0.003610 0 0 CHI3L2 1117 broad.mit.edu 37 1 111773481 111773481 + Missense_Mutation SNP T G G TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:111773481T>G uc001eam.3 + 2 259 c.188T>G c.(187-189)tTc>tGc p.F63C CHI3L2_uc001ean.3_Missense_Mutation_p.F53C|CHI3L2_uc001eao.3_5'UTR NM_004000 NP_001020370 Q15782 CH3L2_HUMAN Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA. 63 chitin catabolic process extracellular space cation binding|chitinase activity p.F63F(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) ATCTATTCATTCGCCAGCATC 0.463000 47 23 0 0 0.002299 0 0 CDH11 1009 broad.mit.edu 37 16 64984722 64984722 + Silent SNP G T T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr16:64984722G>T uc002eoi.3 - 11 2276 c.1842C>A c.(1840-1842)ggC>ggA p.G614G CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Silent_p.G614G|CDH11_uc010vin.2_Silent_p.G488G NM_001797 NP_001788 P55287 CAD11_HUMAN Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA. 614 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CTGTGCTCAGGCCGGCGTTCA 0.627000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 53 18 1.56452e-12 8.76673e-12 0.000958 1 0 DUXA 503835 broad.mit.edu 37 19 57666725 57666725 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr19:57666725G>A uc002qoa.1 - 4 499 c.454C>T c.(454-456)Cga>Tga p.R152* NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN Homo sapiens double homeobox A (DUXA), mRNA. 152 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) CTAGATCTTCGATTTTGGAAC 0.383000 58 12 0 0 0.000978 0 0 SORCS1 114815 broad.mit.edu 37 10 108389146 108389146 + Splice_Site SNP C A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr10:108389146C>A uc001kyl.3 - 19 2658 c.2476_splice c.e19-1 p.G826_splice SORCS1_uc021pxw.1_Splice_Site_p.G826_splice|SORCS1_uc009xxs.3_Splice_Site_p.G826_splice|SORCS1_uc001kym.3_Splice_Site_p.G826_splice|SORCS1_uc001kyn.2_Splice_Site_p.G826_splice|SORCS1_uc001kyo.3_Splice_Site_p.G826_splice NM_001013031 NP_001013049 Q8WY21 SORC1_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA. 826 PKD. integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGAACATCACCCTGAAAAACA 0.517000 11 13 1.49906e-05 8.1199e-05 0.002450 1 0 TC2N 123036 broad.mit.edu 37 14 92251698 92251698 + Silent SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr14:92251698G>A uc001xzu.4 - 10 1361 c.1170C>T c.(1168-1170)ttC>ttT p.F390F TC2N_uc001xzt.4_Silent_p.F390F|TC2N_uc010auc.3_Silent_p.F326F|TC2N_uc001xzv.4_Silent_p.F390F NM_001128595 NP_689545 Q8N9U0 TAC2N_HUMAN Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA. 390 C2. nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CCACCTTCACGAAAAAACCTA 0.323000 121 48 0 0 0.003214 0 0 SORBS2 8470 broad.mit.edu 37 4 186545335 186545335 + Silent SNP C T T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr4:186545335C>T uc003iyg.3 - 12 1610 c.1578G>A c.(1576-1578)gaG>gaA p.E526E SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.E512E|SORBS2_uc003iyl.3_Silent_p.E412E|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.E316E|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 412 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CCTTGGAGTCCTCCTCACATA 0.592000 67 17 0 0 0.004007 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T G G TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr3:126707544T>G uc003ejg.3 + 0 108 c.108T>G c.(106-108)ggT>ggG p.G36G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 36 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 35 11 0 0 0.002299 0 0 MOB2 81532 broad.mit.edu 37 11 1491656 1491656 + Missense_Mutation SNP C T T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr11:1491656C>T uc010qwz.2 - 4 715 c.553G>A c.(553-555)Gtg>Atg p.V185M MOB2_uc001ltq.2_Missense_Mutation_p.V148M|MOB2_uc001lto.2_Missense_Mutation_p.V69M|MOB2_uc001ltp.1_5'UTR NM_001172223 NP_001165694 Q70IA6 MOB2_HUMAN Homo sapiens MOB kinase activator 2 (MOB2), transcript variant 1, mRNA. 154 nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|kidney(2)|lung(1) 4 TGTGCCAGCACGTGGAACAGG 0.582000 27 18 0 0 0.006122 0 0 DPP6 1804 broad.mit.edu 37 7 154143335 154143335 + Missense_Mutation SNP A G G TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr7:154143335A>G uc003wlk.3 + 1 409 c.280A>G c.(280-282)Aaa>Gaa p.K94E DPP6_uc003wli.3_Missense_Mutation_p.K30E|DPP6_uc003wlj.3_Missense_Mutation_p.K94E|DPP6_uc010lqh.1_Missense_Mutation_p.K32E|DPP6_uc003wlm.3_Missense_Mutation_p.K32E|DPP6_uc011kvq.2_Missense_Mutation_p.K32E NM_130797 NP_570629 P42658 DPP6_HUMAN Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA. 94 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GAGGAATTGGAAAGGAATAGC 0.428000 85 29 0 0 0.002836 0 0 SPPL2A 84888 broad.mit.edu 37 15 51012138 51012138 + Splice_Site SNP T A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr15:51012138T>A uc001zyv.3 - 14 1668 c.1488_splice c.e14+1 p.Q496_splice NM_032802 NP_116191 Q8TCT8 PSL2_HUMAN Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA. 496 integral to membrane aspartic-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) AGCACATACCTGATAGCTGTT 0.398000 48 14 0 0 0.001855 0 0 UNC45A 55898 broad.mit.edu 37 15 91496480 91496480 + Silent SNP C T T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr15:91496480C>T uc002bqg.3 + 18 2857 c.2517C>T c.(2515-2517)gcC>gcT p.A839A UNC45A_uc002bqd.3_Silent_p.A824A|UNC45A_uc010uqr.2_Silent_p.A231A|UNC45A_uc021suj.1_Silent_p.A117A|RCCD1_uc002bqj.3_5'Flank|RCCD1_uc002bqk.3_5'Flank NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA. 839 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GGGCAGCTGCCGGGGGCTTGG 0.632000 314 35 0 0 0.003755 0 0 CR1 1378 broad.mit.edu 37 1 207758161 207758161 + Missense_Mutation SNP C T T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:207758161C>T uc001hfy.3 + 24 4260 c.4120C>T c.(4120-4122)Cct>Tct p.P1374S CR1_uc009xcl.1_Missense_Mutation_p.P924S|CR1_uc001hfx.3_Missense_Mutation_p.P1824S|CR1_uc021pij.1_Missense_Mutation_p.P1374S NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 1374 Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1374S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CACAAGTGACCCTCATGGGAA 0.512000 217 7 0 0 0.001984 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143603 61143603 + RNA SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr20:61143603G>A uc021wfy.1 - 0 c.280C>T C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds. GGGGGCTAAGGGGCCACTTGG 0.652000 56 18 0 0 0.004990 0 0 DNAH8 1769 broad.mit.edu 37 6 38830108 38830108 + Missense_Mutation SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr6:38830108G>A uc021yzh.1 + 43 6293 c.6184G>A c.(6184-6186)Gca>Aca p.A2062T DNAH8_uc003ooe.2_Missense_Mutation_p.A1845T NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGGTGCTCCCGCAGGACCTGC 0.458000 79 38 0 0 0.004878 0 0 TNS1 7145 broad.mit.edu 37 2 218757693 218757693 + Missense_Mutation SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr2:218757693G>A uc002vgt.2 - 8 783 c.385C>T c.(385-387)Cac>Tac p.H129Y TNS1_uc002vgr.2_Missense_Mutation_p.H129Y|TNS1_uc002vgs.2_Missense_Mutation_p.H129Y|TNS1_uc010zjv.1_Missense_Mutation_p.H129Y|TNS1_uc010fvj.1_Missense_Mutation_p.H197Y|TNS1_uc010fvk.1_Missense_Mutation_p.H254Y|TNS1_uc002vgu.3_Missense_Mutation_p.H160Y NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN Homo sapiens tensin 1 (TNS1), mRNA. 129 Phosphatase tensin-type. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TTGCTGTAGTGCATGTAAGCC 0.542000 82 25 0 0 0.005443 0 0 C1QC 714 broad.mit.edu 37 1 22973839 22973839 + Missense_Mutation SNP C T T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:22973839C>T uc001bgc.4 + 2 404 c.301C>T c.(301-303)Ccc>Tcc p.P101S C1QC_uc001bga.4_Missense_Mutation_p.P101S NM_172369 NP_758957 P02747 C1QC_HUMAN Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA. 101 Collagen-like. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen p.P101P(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GGTGCCCGGCCCCATGGGCAT 0.642000 59 30 0 0 0.001512 0 0 RBM33 155435 broad.mit.edu 37 7 155530778 155530778 + Missense_Mutation SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr7:155530778G>A uc010lqk.1 + 10 1786 c.1418G>A c.(1417-1419)aGc>aAc p.S473N RBM33_uc011kvv.1_Missense_Mutation_p.S282N NM_053043 NP_444271 Q96EV2 RBM33_HUMAN Homo sapiens RNA binding motif protein 33 (RBM33), mRNA. 473 Pro-rich. RNA binding|nucleotide binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) AGATTCCCGAGCCATCTTTTT 0.468000 116 40 0 0 0.001951 0 0 BAGE1 0 broad.mit.edu 37 GL000237.1 2582 2582 + RNA SNP C T T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chrGL000237.1:2582C>T uc011mgu.1 - 0 c.105G>A Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced. cagagcgagacgagccacggt 0.607000 6 3 0 0 0.004672 0 0 LCLAT1 253558 broad.mit.edu 37 2 30785013 30785013 + Splice_Site SNP T C C TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr2:30785013T>C uc002rnj.3 + 5 688 c.479_splice c.e5-1 p.G160_splice LCLAT1_uc010ymp.2_Splice_Site|LCLAT1_uc002rnk.1_Splice_Site_p.G160_splice|LCLAT1_uc002rnl.3_Splice_Site_p.G122_splice|LCLAT1_uc010ymq.2_Splice_Site_p.G122_splice NM_182551 NP_001002257 Q6UWP7 LCLT1_HUMAN Homo sapiens lysocardiolipin acyltransferase 1 (LCLAT1), transcript variant 1, mRNA. 160 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 TGATTCTAGGTTGGGCCATGC 0.313000 28 9 0 0 0.000443 0 0 IPO5 3843 broad.mit.edu 37 13 98645421 98645421 + Silent SNP C A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr13:98645421C>A uc001vne.3 + 10 1089 c.909C>A c.(907-909)acC>acA p.T303T IPO5_uc001vnf.1_Silent_p.T285T|IPO5_uc010tik.1_Silent_p.T160T|IPO5_uc010til.1_Silent_p.T225T NM_002271 NP_002262 O00410 IPO5_HUMAN Homo sapiens importin 5 (IPO5), mRNA. 285 NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|Ran GTPase binding|protein transporter activity breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 TGATCGTCACCCTCTCTGAGA 0.388000 26 16 2.23348e-06 1.23031e-05 0.004007 1 0 PPP6C 5537 broad.mit.edu 37 9 127912061 127912061 + Missense_Mutation SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr9:127912061G>A uc010mwv.3 - 7 1141 c.920C>T c.(919-921)tCg>tTg p.S307L PPP6C_uc004bpg.4_Missense_Mutation_p.S270L|PPP6C_uc010mww.3_Missense_Mutation_p.S248L|PPP6C_uc011lzr.2_Missense_Mutation_p.S123L NM_001123355 NP_001116827 O00743 PPP6_HUMAN Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA. 270 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity p.S270L(1) NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 GACCATGATCGAAGCAATATT 0.408000 19 35 0 0 0.003755 0 0 NBPF10 100132406 broad.mit.edu 37 1 144619403 144619403 + Missense_Mutation SNP A G G rs4067646 TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:144619403A>G uc009wig.1 + 5 738 c.544A>G c.(544-546)Aaa>Gaa p.K182E NBPF10_uc010oxo.1_Missense_Mutation_p.K184E|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.K115E|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 184 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAAAGTGCAGAAATCATCTGC 0.413000 346 8 0 0 0.000978 0 0 BAGE 574 broad.mit.edu 37 21 11058322 11058322 + Splice_Site SNP C T T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr21:11058322C>T uc002yiu.1 - 3 317 c.117_splice c.e3-1 p.L39_splice BAGE_uc002yit.1_Splice_Site_p.L39_splice|BAGE_uc002yiv.1_Splice_Site|BAGE_uc002yiw.1_Non-coding_Transcript NM_182484 NP_872290 Q13072 BAGE1_HUMAN Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA. 39 extracellular region Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAATGCACATCGCTGAAAGGG 0.383000 157 14 0 0 0.003163 0 0 FGR 2268 broad.mit.edu 37 1 27939461 27939461 + Silent SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:27939461G>A uc001boj.3 - 10 1700 c.1554C>T c.(1552-1554)tcC>tcT p.S518S FGR_uc001boi.3_Silent_p.S221S|FGR_uc001bok.3_Silent_p.S518S|FGR_uc001bol.3_Silent_p.S518S|FGR_uc001bom.3_Silent_p.S518S NM_005248 NP_005239 P09769 FGR_HUMAN Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA. 518 platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GTGGTTCAGCGGAGGTGAAGT 0.612000 35 21 0 0 0.001882 0 0 DDX60 55601 broad.mit.edu 37 4 169176878 169176878 + Missense_Mutation SNP C T T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr4:169176878C>T uc003irp.3 - 25 3833 c.3541G>A c.(3541-3543)Gag>Aag p.E1181K NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 1181 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TTTTGTTTCTCTATGGATTTT 0.348000 49 11 0 0 0.001368 0 0 FLT3 2322 broad.mit.edu 37 13 28601295 28601295 + Missense_Mutation SNP T C C TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr13:28601295T>C uc001urw.3 - 16 2219 c.2137A>G c.(2137-2139)Act>Gct p.T713A FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.T713A NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 713 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TCTGTCCAAGTCCTGTGAAAT 0.358000 """Mis, O""" """AML, ALL""" 109 20 0 0 0.001523 0 0 UGT1A1 54658 broad.mit.edu 37 2 234526363 234526363 + Missense_Mutation SNP A G G rs150485330 TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr2:234526363A>G uc002vup.3 + 0 73 c.10A>G c.(10-12)Aca>Gca p.T4A UGT1A1_uc010zmv.1_Missense_Mutation_p.T4A NM_019076 NP_061949 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA. 0 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding p.T4A(3) breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CATGGCTCGCACAGGGTGGAC 0.562000 51 4 0 0 0.000248 0 0 TLK2 11011 broad.mit.edu 37 17 60600509 60600509 + Silent SNP A C C TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr17:60600509A>C uc010ddp.3 + 4 506 c.238A>C c.(238-240)Agg>Cgg p.R80R TLK2_uc002izx.4_5'UTR|TLK2_uc002izz.4_Silent_p.R80R|TLK2_uc002jaa.4_Silent_p.R80R|TLK2_uc010wpd.2_Silent_p.R80R NM_006852 NP_006843 Q86UE8 TLK2_HUMAN Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA. 80 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.G80V(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 AGGCACTCCTAGGGGACATAA 0.269000 13 4 0 0 0.004482 0 0 CD300E 342510 broad.mit.edu 37 17 72613315 72613315 + Missense_Mutation SNP C G G TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr17:72613315C>G uc002jlb.2 - 1 467 c.330G>C c.(328-330)tgG>tgC p.W110C NM_181449 NP_852114 Q496F6 CLM2_HUMAN Homo sapiens CD300e molecule (CD300E), mRNA. 110 Ig-like V-type. integral to membrane|plasma membrane receptor activity p.V109M(1) breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 AATCCAGGACCCACACTGTCT 0.547000 106 25 0 0 0.001061 0 0 HSPBP1 23640 broad.mit.edu 37 19 55785939 55785939 + Missense_Mutation SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr19:55785939G>A uc002qkd.3 - 4 801 c.467C>T c.(466-468)gCg>gTg p.A156V HSPBP1_uc002qjx.3_Missense_Mutation_p.A202V|HSPBP1_uc002qkc.3_Missense_Mutation_p.A156V NM_001130106 NP_036399 Q9NZL4 HPBP1_HUMAN Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA. 159 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CGCAGCCCCCGCCTCCAGGTA 0.672000 19 13 0 0 0.003163 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 65 27 0 0 0.001061 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr15:102515299G>A uc002cdi.3 + 8 1943 c.523G>A c.(523-525)Ggc>Agc p.G175S WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA. p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 11 7 0 0 0.004482 0 0 TMEM74 157753 broad.mit.edu 37 8 109796547 109796547 + Missense_Mutation SNP G A A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr8:109796547G>A uc003ymy.1 - 1 886 c.781C>T c.(781-783)Cgt>Tgt p.R261C TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.R261C NM_153015 NP_694560 Q96NL1 TMM74_HUMAN Homo sapiens transmembrane protein 74 (TMEM74), mRNA. 261 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CTGTTTCGACGATAGAGCTCC 0.512000 51 17 0 0 0.004990 0 0 CA2 760 broad.mit.edu 37 8 86386612 86386612 + Silent SNP T C C TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr8:86386612T>C uc003ydk.2 + 3 591 c.411T>C c.(409-411)ccT>ccC p.P137P NM_000067 NP_000058 P00918 CAH2_HUMAN Homo sapiens carbonic anhydrase II (CA2), mRNA. 137 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) TGCAGCAACCTGATGGACTGG 0.398000 252 7 0 0 0.000443 0 0 FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC - - rs71929261 TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:240255569_240255571delGGC uc010pye.2 + 0 385_387 c.160_162delGGC c.(160-162)ggcdel p.G59del FMN2_uc010pyd.2_In_Frame_Del_p.G59del NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 59 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.G197delG(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) GGGGGGAgggggcggcggcggcg 0.665 --- 16 --- --- 11 --- THNSL2 55258 broad.mit.edu 37 2 88474921 88474922 + Splice_Site DEL GT - - TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr2:88474921_88474922delGT uc002ssy.4 + 3 2262 c.571_splice c.e3+1 p.V191_splice THNSL2_uc002ssw.4_Splice_Site_p.V191_splice|THNSL2_uc002sta.4_Splice_Site_p.V33_splice|THNSL2_uc010fhe.3_Splice_Site_p.V33_splice|THNSL2_uc021vkq.1_Frame_Shift_Del_p.G191fs|THNSL2_uc021vkr.1_Splice_Site_p.V191_splice NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA. 191 threonine biosynthetic process threonine synthase activity p.?(1) breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 GTGTTTGGAGGTGTGTGCTGAG 0.505 --- 42 --- --- 16 --- PRRC2A 7916 broad.mit.edu 37 6 31597456 31597457 + Frame_Shift_Ins INS - C C TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr6:31597456_31597457insC uc003nvb.4 + 13 2337_2338 c.2088_2089insC c.(2086-2091)ccacccfs p.P696fs PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Frame_Shift_Ins_p.P696fs NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 696 4 X 57 AA type A repeats.|Poly-Pro. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CACAGGCTCCACCCCCGCCCCC 0.649 --- 60 --- --- 8 --- PRDM12 59335 broad.mit.edu 37 9 133543701 133543702 + Splice_Site DEL GT - - TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr9:133543701_133543702delGT uc004bzt.1 + 3 630 c.570_splice c.e3+1 p.E190_splice NM_021619 NP_067632 Q9H4Q4 PRD12_HUMAN Homo sapiens PR domain containing 12 (PRDM12), mRNA. 190 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GGCCATTGAGGTGTGTGTGTGT 0.594 --- 80 --- --- 9 --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC - - rs56192595 TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC uc002bon.3 + 0 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gaggggcaggggcaagggcaggggcag>gag p.GQGQGQGQ195del MESP2_uc010uqa.2_Intron NM_001039958 NP_001035047 Q0VG99 MESP2_HUMAN Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA. 195 13 X 2 AA tandem repeats of G-Q. Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(2) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 --- 9 --- --- 5 --- KRTAP10-6 386674 broad.mit.edu 37 21 46012219 46012220 + In_Frame_Ins INS - GGGGCGCAGCAGCTG GGGGCGCAGCAGCTG rs71199613 TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr21:46012219_46012220insGGGGCGCAGCAGCTG uc002zfm.3 - 0 167_168 c.146_147insCAGCTGCTGCGCCCC c.(145-147)ccg>ccCAGCTGCTGCGCCCCg p.49_49P>PSCCAP TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA. 49 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGGGGGCCGGGGCGCAGCA 0.688 --- 40 --- --- 8 ---