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 DTX1 1840 broad.mit.edu 37 12 113532986 113532986 + Missense_Mutation SNP A A G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr12:113532986A>G ENST00000257600.3 + 7 2029 c.1526A>G c.(1525-1527)tAt>tGt p.Y509C DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 509 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGCATCGTCTATGACATCCCC 0.652000 21 117 0 0 0.706142 0 0 CDH5 1003 broad.mit.edu 37 16 66422319 66422319 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr16:66422319G>A ENST00000341529.3 + 4 740 c.592G>A c.(592-594)Gag>Aag p.E198K CDH5_ENST00000563425.2_Missense_Mutation_p.E198K NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 198 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GAAGGGGAAAGAGTATTTTGC 0.527000 23 122 0 0 0.681144 0 0 ARIH2 10425 broad.mit.edu 37 3 49004609 49004609 + Nonsense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr3:49004609C>T ENST00000356401.4 + 6 778 c.439C>T c.(439-441)Cga>Tga p.R147* ARIH2_ENST00000449376.1_Nonsense_Mutation_p.R147*|ARIH2_ENST00000490095.1_3'UTR NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 147 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) GCAGTTTGTGCGAAAGGAAAA 0.572000 14 145 0 0 0.500413 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38655514 38655514 + Silent SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr19:38655514G>A ENST00000222345.6 + 15 4685 c.4176G>A c.(4174-4176)gcG>gcA p.A1392A NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1392 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CGGGACTGGCGGGGGGCAGCC 0.657000 10 26 0 0 0.411799 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123127403 123127403 + Silent SNP G G A rs41292582 byFrequency TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr6:123127403G>A ENST00000368440.4 + 7 1122 c.945G>A c.(943-945)gtG>gtA p.V315V SMPDL3A_ENST00000539041.1_Silent_p.V184V NM_006714.3 NP_006705.1 Q92484 ASM3A_HUMAN sphingomyelin phosphodiesterase, acid-like 3A 315 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(226;0.236) CTTTGTTTGTGGCTCCTGCTG 0.323000 7 32 0 0 0.307466 0 0 IPO5 3843 broad.mit.edu 37 13 98655152 98655152 + Missense_Mutation SNP A A G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr13:98655152A>G ENST00000261574.5 + 16 1592 c.1412A>G c.(1411-1413)cAa>cGa p.Q471R IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R|IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 453 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 ATGGAAGACCAAGGCAATCAA 0.453000 6 20 0 0 0.217242 0 0 KCTD1 284252 broad.mit.edu 37 18 24128246 24128246 + Silent SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr18:24128246C>T ENST00000417602.1 - 1 254 c.255G>A c.(253-255)ctG>ctA p.L85L KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 0 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) cgtcctcctccagccccccac 0.697000 2 2 0 0 0.115264 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88874185 88874185 + Splice_Site SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr2:88874185T>C ENST00000303236.3 - 13 3117 c.2817_splice c.e13+1 p.K939_splice EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788_splice|AC104134.2_ENST00000413234.1_RNA NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 939 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 AATACAGACCTTGAGGTCCCT 0.488000 4 17 0 0 0.150653 0 0 SYCP1 6847 broad.mit.edu 37 1 115489915 115489915 + Missense_Mutation SNP C C A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr1:115489915C>A ENST00000369522.3 + 27 2536 c.2296C>A c.(2296-2298)Caa>Aaa p.Q766K SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 766 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) 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) TGTTAAGAAGCAACTTGAAAT 0.318000 12 58 1.05317e-09 1.32791e-09 0.457914 1 0 PLEKHA4 0 broad.mit.edu 37 19 49364696 49364696 + Missense_Mutation SNP C C A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr19:49364696C>A ENST00000263265.6 - 5 883 c.328G>T c.(328-330)Ggg>Tgg p.G110W PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 110 PH. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GCTCCCGGCCCATCTGGTCTA 0.612000 7 78 0.0477658 0.0532772 0.307466 1 0 SCYL2 55681 broad.mit.edu 37 12 100706228 100706228 + Missense_Mutation SNP G G C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr12:100706228G>C ENST00000360820.2 + 6 1086 c.649G>C c.(649-651)Gaa>Caa p.E217Q NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 217 Protein kinase. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 TCCTTGTAAAGAATGGGACCC 0.343000 3 41 0 0 0.115264 0 0 ZFHX3 463 broad.mit.edu 37 16 72830348 72830348 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr16:72830348G>A ENST00000268489.5 - 9 6905 c.6233C>T c.(6232-6234)cCg>cTg p.P2078L ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1164L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2078 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) TGGCTGGGCCGGTGCAATTGT 0.672000 3 93 0 0 0.115264 0 0 VRTN 55237 broad.mit.edu 37 14 74825501 74825501 + Missense_Mutation SNP A A T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr14:74825501A>T ENST00000256362.4 + 2 2256 c.2015A>T c.(2014-2016)aAg>aTg p.K672M NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 672 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CCCTCCTACAAGGAGTTCAGT 0.567000 24 74 0 0 0.717897 0 0 OPA1 4976 broad.mit.edu 37 3 193361334 193361334 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr3:193361334G>A ENST00000361510.2 + 15 1629 c.1395G>A c.(1393-1395)atG>atA p.M465I OPA1_ENST00000361150.2_Missense_Mutation_p.M411I|OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 410 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CATCAGGCATGGCTCCTGACA 0.308000 11 46 0 0 0.387290 0 0 TEP1 7011 broad.mit.edu 37 14 20856080 20856080 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr14:20856080G>A ENST00000262715.5 - 18 2708 c.2668C>T c.(2668-2670)Cct>Tct p.P890S TEP1_ENST00000556935.1_Missense_Mutation_p.P782S NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 890 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGGGAAACAGGAGCCAAGGGG 0.542000 17 88 0 0 0.592651 0 0 COL25A1 84570 broad.mit.edu 37 4 109740459 109740459 + Silent SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr4:109740459T>C ENST00000399132.1 - 36 2402 c.1872A>G c.(1870-1872)aaA>aaG p.K624K NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 624 Collagen-like 7. 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) CTGGCTCCCCTTTTTCCCCCT 0.453000 3 50 0 0 0.150653 0 0 AKR7L 246181 broad.mit.edu 37 1 19597014 19597014 + RNA SNP G G T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr1:19597014G>T ENST00000420396.2 - 0 437 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 CTTCCCAGGCGGCATAGTTGG 0.622000 3 74 0.00116845 0.0013554 0.217242 1 0 AKR7L 246181 broad.mit.edu 37 1 19597040 19597040 + RNA SNP C C T rs114623957 by1000genomes TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr1:19597040C>T ENST00000420396.2 - 0 411 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 CCAAGCTCCACGAACTTGCCC 0.617000 4 56 0 0 0.184627 0 0 YTHDC1 91746 broad.mit.edu 37 4 69198540 69198540 + Silent SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr4:69198540T>C ENST00000344157.4 - 6 1334 c.999A>G c.(997-999)ttA>ttG p.L333L YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Silent_p.L333L NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 333 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 CGGAAGATGATAATTTCTCAT 0.328000 4 46 0 0 0.217242 0 0 SRRM2 23524 broad.mit.edu 37 16 2817170 2817170 + Missense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr16:2817170C>T ENST00000301740.8 + 11 7190 c.6641C>T c.(6640-6642)cCg>cTg p.P2214L NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2214 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding p.P2214Q(1) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GTTCCAGCCCCGGTGCCTCTC 0.612000 3 75 0 0 0.115264 0 0 CYP2S1 29785 broad.mit.edu 37 19 41704492 41704492 + Missense_Mutation SNP G G C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr19:41704492G>C ENST00000310054.4 + 4 835 c.619G>C c.(619-621)Ggt>Cgt p.G207R CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 207 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 GGCAGCTGGTGGTACCCTGCT 0.627000 8 114 0 0 0.335167 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296318 39296318 + Missense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr17:39296318C>T ENST00000345847.4 - 1 421 c.422G>A c.(421-423)cGt>cAt p.R141H NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 137 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament p.R141H(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 gcagctgggacggcagcagGT 0.672000 3 33 0 0 0.150653 0 0 MYH9 4627 broad.mit.edu 37 22 36681972 36681972 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr22:36681972G>A ENST00000216181.5 - 36 5319 c.5089C>T c.(5089-5091)Cgc>Tgc p.R1697C MYH9_ENST00000475726.1_5'UTR NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1697 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 TGGGCCTGGCGCTTGGCACGC 0.652000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 52 0 0 0.307466 0 0 ALPP 250 broad.mit.edu 37 2 233246234 233246234 + Missense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr2:233246234C>T ENST00000392027.2 + 11 1606 c.1337C>T c.(1336-1338)gCa>gTa p.A446V AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 446 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CAGCAGTCAGCAGTGCCCCTG 0.667000 10 22 0 0 0.435327 0 0 MRC2 9902 broad.mit.edu 37 17 60741987 60741987 + Missense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr17:60741987C>T ENST00000303375.5 + 2 599 c.197C>T c.(196-198)cCg>cTg p.P66L NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 66 Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 AGAGTCACCCCGGCTTGCAAT 0.632000 4 70 0 0 0.184627 0 0 PRKDC 5591 broad.mit.edu 37 8 48739269 48739269 + Missense_Mutation SNP G G T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr8:48739269G>T ENST00000314191.2 - 64 8784 c.8728C>A c.(8728-8730)Cgt>Agt p.R2910S PRKDC_ENST00000338368.3_Missense_Mutation_p.R2910S|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2911 FAT.|KIP-binding. 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) GCCTTCCCACGGACTCGCTTG 0.627000 Non-homologous end-joining 6 26 0.0381472 0.0433831 0.278610 1 0 MACF1 23499 broad.mit.edu 37 1 39888543 39888543 + Missense_Mutation SNP G G C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr1:39888543G>C ENST00000564288.1 + 60 16897 c.16120G>C c.(16120-16122)Gtg>Ctg p.V5374L MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L|MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5379 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) TGAGTATAAAGTGGTGAAAGC 0.458000 4 29 0 0 0.184627 0 0 SCGB1A1 7356 broad.mit.edu 37 11 62189705 62189705 + Missense_Mutation SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr11:62189705T>C ENST00000278282.2 + 2 129 c.68T>C c.(67-69)aTc>aCc p.I23T CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR NM_003357.4 NP_003348.1 P11684 UTER_HUMAN secretoglobin, family 1A, member 1 (uteroglobin) 23 embryo implantation|signal transduction extracellular region binding|phospholipase A2 inhibitor activity lung(1) 1 TCTGCAGAGATCTGCCCGAGC 0.557000 3 65 0 0 0.217242 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529936 80529936 + Missense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr2:80529936C>T ENST00000295057.3 - 2 1665 c.1009G>A c.(1009-1011)Gat>Aat p.D337N LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 337 LRRCT. axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 AAGTTGCCATCGTAGCGCCCC 0.657000 HNSCC(69;0.2) 4 22 0 0 0.184627 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088476 43088476 + Missense_Mutation SNP T T A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr10:43088476T>A ENST00000359467.3 - 5 2036 c.1922A>T c.(1921-1923)gAg>gTg p.E641V ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 641 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TTTTCCACACTCATTACATTC 0.388000 4 107 0 0 0.217242 0 0 CPA5 93979 broad.mit.edu 37 7 129989880 129989880 + Missense_Mutation SNP A A G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr7:129989880A>G ENST00000485477.1 + 4 1392 c.263A>G c.(262-264)gAa>gGa p.E88G CPA5_ENST00000355388.3_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 88 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) CCTTTCTCTGAACTGAAAGAC 0.527000 11 101 0 0 0.387290 0 0 KAT6B 23522 broad.mit.edu 37 10 76735743 76735743 + Missense_Mutation SNP A A T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr10:76735743A>T ENST00000287239.4 + 8 2137 c.1648A>T c.(1648-1650)Atc>Ttc p.I550F KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 550 Negatively regulates HAT activity. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding GCTTTCTCATATCTATACCAC 0.512000 9 59 0 0 0.387290 0 0 NLRP10 338322 broad.mit.edu 37 11 7982031 7982031 + Missense_Mutation SNP C C A rs74451065 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr11:7982031C>A ENST00000328600.2 - 2 1289 c.1128G>T c.(1126-1128)gaG>gaT p.E376D NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 376 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTCTAGGTGTCTCTAAGACAA 0.547000 10 26 1.76689e-08 2.18042e-08 0.335167 1 0 SIDT1 54847 broad.mit.edu 37 3 113325954 113325954 + Missense_Mutation SNP G G A rs146353910 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr3:113325954G>A ENST00000264852.4 + 15 2197 c.1471G>A c.(1471-1473)Gtc>Atc p.V491I SIDT1_ENST00000463226.1_Intron|SIDT1_ENST00000393830.3_Missense_Mutation_p.V491I NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 491 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 CCCCTTGGGCGTCCTGAGGTA 0.433000 3 58 0 0 0.150653 0 0 FAM174B 400451 broad.mit.edu 37 15 93173520 93173520 + Missense_Mutation SNP C C G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr15:93173520C>G ENST00000327355.5 - 2 698 c.400G>C c.(400-402)Gag>Cag p.E134Q FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 134 integral to membrane endometrium(2)|lung(1) 3 TCCACTCGCTCTGCTGGAGTG 0.478000 8 26 0 0 0.307466 0 0 RYR2 6262 broad.mit.edu 37 1 237753955 237753955 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr1:237753955G>A ENST00000366574.2 + 31 4140 c.3823G>A c.(3823-3825)Ggc>Agc p.G1275S RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1275 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.G1273R(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGAATAGACGGCACCATAGA 0.423000 19 105 0 0 0.592651 0 0 ADAD2 161931 broad.mit.edu 37 16 84229221 84229221 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr16:84229221G>A ENST00000268624.3 + 7 1309 c.1216G>A c.(1216-1218)Gga>Aga p.G406R RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.G324R NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 324 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 GCCAGGGCCCGGACCCCCATT 0.687000 4 29 0 0 0.150653 0 0 FLI1 2313 broad.mit.edu 37 11 128680431 128680431 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr11:128680431G>A ENST00000344954.6 + 9 1196 c.808G>A c.(808-810)Gag>Aag p.E270K FLI1_ENST00000534087.1_Missense_Mutation_p.E270K|FLI1_ENST00000429175.2_Missense_Mutation_p.E303K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 303 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) TATCACCTGGGAGGGGACCAA 0.617000 T EWSR1 Ewing sarcoma 3 9 0 0 0.115264 0 0 CABP1 9478 broad.mit.edu 37 12 121094004 121094004 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr12:121094004G>A ENST00000453000.1 + 1 903 c.391G>A c.(391-393)Gca>Aca p.A131T CABP1_ENST00000288616.3_Missense_Mutation_p.A52T|CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron Q9NZU7 CABP1_HUMAN calcium binding protein 1 0 Pro-rich. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCAGAACTGCGCAGTCATGCA 0.647000 3 39 0 0 0.115264 0 0 OBSCN 84033 broad.mit.edu 37 1 228487672 228487672 + Missense_Mutation SNP G G A rs55939441 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr1:228487672G>A ENST00000570156.2 + 51 13638 c.13564G>A c.(13564-13566)Gcc>Acc p.A4522T OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1212T|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3565 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GAGAAAGGCGGCCCCCGTGGA 0.557000 3 67 0 0 0.115264 0 0 NLGN1 22871 broad.mit.edu 37 3 173322456 173322456 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr3:173322456G>A ENST00000457714.1 + 3 497 c.68G>A c.(67-69)cGg>cAg p.R23Q NLGN1_ENST00000401917.3_Missense_Mutation_p.R23Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R23Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R23Q NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 23 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.R23L(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TTGGTACACCGGGGATTGGGT 0.507000 27 84 0 0 0.693898 0 0 RAG1 5896 broad.mit.edu 37 11 36596041 36596041 + Missense_Mutation SNP G G A rs104894291 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr11:36596041G>A ENST00000299440.5 + 2 1299 c.1187G>A c.(1186-1188)cGc>cAc p.R396H NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 396 R -> C (in OS).|R -> H (in OS).|R -> L (in OS). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.R396H(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GGCCGGCCCCGCCAACATCTT 0.478000 Familial Hemophagocytic Lymphohistiocytosis 3 66 0 0 0.115264 0 0 ZBBX 79740 broad.mit.edu 37 3 167000276 167000276 + Silent SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr3:167000276T>C ENST00000392766.2 - 19 2227 c.1887A>G c.(1885-1887)aaA>aaG p.K629K ZBBX_ENST00000307529.5_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392767.2_Silent_p.K629K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 629 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 GTCTCTGTGATTTCTGACCTA 0.353000 3 70 0 0 0.150653 0 0 CD38 952 broad.mit.edu 37 4 15835906 15835906 + Nonsense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr4:15835906G>A ENST00000226279.2 + 4 703 c.566G>A c.(565-567)tGg>tAg p.W189* NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 189 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 TCAGTATTCTGGAAAACGGTT 0.398000 26 54 0 0 0.760397 0 0 DTX1 1840 broad.mit.edu 37 12 113532986 113532986 + Missense_Mutation SNP A A G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr12:113532986A>G ENST00000257600.3 + 7 2029 c.1526A>G c.(1525-1527)tAt>tGt p.Y509C DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 509 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGCATCGTCTATGACATCCCC 0.652000 21 117 0 0 0.706142 0 0 CDH5 1003 broad.mit.edu 37 16 66422319 66422319 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr16:66422319G>A ENST00000341529.3 + 4 740 c.592G>A c.(592-594)Gag>Aag p.E198K CDH5_ENST00000563425.2_Missense_Mutation_p.E198K NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 198 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GAAGGGGAAAGAGTATTTTGC 0.527000 23 122 0 0 0.681144 0 0 ARIH2 10425 broad.mit.edu 37 3 49004609 49004609 + Nonsense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr3:49004609C>T ENST00000356401.4 + 6 778 c.439C>T c.(439-441)Cga>Tga p.R147* ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Nonsense_Mutation_p.R147* NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 147 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) GCAGTTTGTGCGAAAGGAAAA 0.572000 14 145 0 0 0.500413 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38655514 38655514 + Silent SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr19:38655514G>A ENST00000222345.6 + 15 4685 c.4176G>A c.(4174-4176)gcG>gcA p.A1392A NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1392 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CGGGACTGGCGGGGGGCAGCC 0.657000 10 26 0 0 0.411799 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123127403 123127403 + Silent SNP G G A rs41292582 byFrequency TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr6:123127403G>A ENST00000368440.4 + 7 1122 c.945G>A c.(943-945)gtG>gtA p.V315V SMPDL3A_ENST00000539041.1_Silent_p.V184V NM_006714.3 NP_006705.1 Q92484 ASM3A_HUMAN sphingomyelin phosphodiesterase, acid-like 3A 315 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(226;0.236) CTTTGTTTGTGGCTCCTGCTG 0.323000 7 32 0 0 0.307466 0 0 IPO5 3843 broad.mit.edu 37 13 98655152 98655152 + Missense_Mutation SNP A A G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr13:98655152A>G ENST00000261574.5 + 16 1592 c.1412A>G c.(1411-1413)cAa>cGa p.Q471R IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R|IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 453 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 ATGGAAGACCAAGGCAATCAA 0.453000 6 20 0 0 0.217242 0 0 PRB3 5544 broad.mit.edu 37 12 11420458 11420458 + RNA SNP C C G rs28435564 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr12:11420458C>G ENST00000381842.3 - 0 642 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) CTTTCCTGGACGAGGTGGGGG 0.612000 3 25 0 0 0.115264 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88874185 88874185 + Splice_Site SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr2:88874185T>C ENST00000303236.3 - 13 3117 c.2817_splice c.e13+1 p.K939_splice EIF2AK3_ENST00000419748.1_Splice_Site_p.K788_splice|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 939 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 AATACAGACCTTGAGGTCCCT 0.488000 4 17 0 0 0.150653 0 0 SYCP1 6847 broad.mit.edu 37 1 115489915 115489915 + Missense_Mutation SNP C C A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr1:115489915C>A ENST00000369522.3 + 27 2536 c.2296C>A c.(2296-2298)Caa>Aaa p.Q766K SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 766 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) 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) TGTTAAGAAGCAACTTGAAAT 0.318000 12 58 1.05317e-09 1.28212e-09 0.457914 1 0 PLEKHA4 0 broad.mit.edu 37 19 49364696 49364696 + Missense_Mutation SNP C C A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr19:49364696C>A ENST00000263265.6 - 5 883 c.328G>T c.(328-330)Ggg>Tgg p.G110W PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 110 PH. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GCTCCCGGCCCATCTGGTCTA 0.612000 7 78 0.0477658 0.0534976 0.307466 1 0 SCYL2 55681 broad.mit.edu 37 12 100706228 100706228 + Missense_Mutation SNP G G C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr12:100706228G>C ENST00000360820.2 + 6 1086 c.649G>C c.(649-651)Gaa>Caa p.E217Q NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 217 Protein kinase. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 TCCTTGTAAAGAATGGGACCC 0.343000 3 41 0 0 0.115264 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 57 0 0 0.248553 0 0 VRTN 55237 broad.mit.edu 37 14 74825501 74825501 + Missense_Mutation SNP A A T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr14:74825501A>T ENST00000256362.4 + 2 2256 c.2015A>T c.(2014-2016)aAg>aTg p.K672M NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 672 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CCCTCCTACAAGGAGTTCAGT 0.567000 24 74 0 0 0.717897 0 0 OPA1 4976 broad.mit.edu 37 3 193361334 193361334 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr3:193361334G>A ENST00000361510.2 + 15 1629 c.1395G>A c.(1393-1395)atG>atA p.M465I OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361150.2_Missense_Mutation_p.M411I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 410 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CATCAGGCATGGCTCCTGACA 0.308000 11 46 0 0 0.387290 0 0 TEP1 7011 broad.mit.edu 37 14 20856080 20856080 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr14:20856080G>A ENST00000262715.5 - 18 2708 c.2668C>T c.(2668-2670)Cct>Tct p.P890S TEP1_ENST00000556935.1_Missense_Mutation_p.P782S NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 890 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGGGAAACAGGAGCCAAGGGG 0.542000 17 88 0 0 0.592651 0 0 COL25A1 84570 broad.mit.edu 37 4 109740459 109740459 + Silent SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr4:109740459T>C ENST00000399132.1 - 36 2402 c.1872A>G c.(1870-1872)aaA>aaG p.K624K NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 624 Collagen-like 7. 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) CTGGCTCCCCTTTTTCCCCCT 0.453000 3 50 0 0 0.150653 0 0 AKR7L 246181 broad.mit.edu 37 1 19597014 19597014 + RNA SNP G G T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr1:19597014G>T ENST00000420396.2 - 0 437 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 CTTCCCAGGCGGCATAGTTGG 0.622000 3 74 0.00116845 0.00136319 0.217242 1 0 AKR7L 246181 broad.mit.edu 37 1 19597040 19597040 + RNA SNP C C T rs114623957 by1000genomes TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr1:19597040C>T ENST00000420396.2 - 0 411 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 CCAAGCTCCACGAACTTGCCC 0.617000 4 56 0 0 0.184627 0 0 YTHDC1 91746 broad.mit.edu 37 4 69198540 69198540 + Silent SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr4:69198540T>C ENST00000344157.4 - 6 1334 c.999A>G c.(997-999)ttA>ttG p.L333L YTHDC1_ENST00000579690.1_Silent_p.L333L|YTHDC1_ENST00000355665.3_Intron NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 333 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 CGGAAGATGATAATTTCTCAT 0.328000 4 46 0 0 0.217242 0 0 CPA5 93979 broad.mit.edu 37 7 129989880 129989880 + Missense_Mutation SNP A A G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr7:129989880A>G ENST00000485477.1 + 4 1392 c.263A>G c.(262-264)gAa>gGa p.E88G CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 88 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) CCTTTCTCTGAACTGAAAGAC 0.527000 11 101 0 0 0.387290 0 0 SRRM2 23524 broad.mit.edu 37 16 2817170 2817170 + Missense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr16:2817170C>T ENST00000301740.8 + 11 7190 c.6641C>T c.(6640-6642)cCg>cTg p.P2214L NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2214 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding p.P2214Q(1) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GTTCCAGCCCCGGTGCCTCTC 0.612000 3 75 0 0 0.115264 0 0 CYP2S1 29785 broad.mit.edu 37 19 41704492 41704492 + Missense_Mutation SNP G G C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr19:41704492G>C ENST00000310054.4 + 4 835 c.619G>C c.(619-621)Ggt>Cgt p.G207R CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 207 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 GGCAGCTGGTGGTACCCTGCT 0.627000 8 114 0 0 0.335167 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296318 39296318 + Missense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr17:39296318C>T ENST00000345847.4 - 1 421 c.422G>A c.(421-423)cGt>cAt p.R141H NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 137 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament p.R141H(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 gcagctgggacggcagcagGT 0.672000 3 33 0 0 0.150653 0 0 PCDH15 65217 broad.mit.edu 37 10 55587212 55587212 + Silent SNP C C G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr10:55587212C>G ENST00000373965.2 - 33 4723 c.4329G>C c.(4327-4329)ccG>ccC p.P1443P PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Silent_p.P1436P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000409834.1_Silent_p.P1047P NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1436 Poly-Pro. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) gcggcggcggcgggggcgCTG 0.582000 HNSCC(58;0.16) 4 68 0 0 0.184627 0 0 MYH9 4627 broad.mit.edu 37 22 36681972 36681972 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr22:36681972G>A ENST00000216181.5 - 36 5319 c.5089C>T c.(5089-5091)Cgc>Tgc p.R1697C MYH9_ENST00000475726.1_5'UTR NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1697 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 TGGGCCTGGCGCTTGGCACGC 0.652000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 52 0 0 0.307466 0 0 ALPP 250 broad.mit.edu 37 2 233246234 233246234 + Missense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr2:233246234C>T ENST00000392027.2 + 11 1606 c.1337C>T c.(1336-1338)gCa>gTa p.A446V AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 446 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CAGCAGTCAGCAGTGCCCCTG 0.667000 10 22 0 0 0.435327 0 0 MRC2 9902 broad.mit.edu 37 17 60741987 60741987 + Missense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr17:60741987C>T ENST00000303375.5 + 2 599 c.197C>T c.(196-198)cCg>cTg p.P66L NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 66 Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 AGAGTCACCCCGGCTTGCAAT 0.632000 4 70 0 0 0.184627 0 0 PRKDC 5591 broad.mit.edu 37 8 48739269 48739269 + Missense_Mutation SNP G G T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr8:48739269G>T ENST00000314191.2 - 64 8784 c.8728C>A c.(8728-8730)Cgt>Agt p.R2910S PRKDC_ENST00000338368.3_Missense_Mutation_p.R2910S|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2911 FAT.|KIP-binding. 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) GCCTTCCCACGGACTCGCTTG 0.627000 Non-homologous end-joining 6 26 0.0381472 0.0435968 0.278610 1 0 MACF1 23499 broad.mit.edu 37 1 39888543 39888543 + Missense_Mutation SNP G G C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr1:39888543G>C ENST00000564288.1 + 60 16897 c.16120G>C c.(16120-16122)Gtg>Ctg p.V5374L MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5379 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) TGAGTATAAAGTGGTGAAAGC 0.458000 4 29 0 0 0.184627 0 0 SCGB1A1 7356 broad.mit.edu 37 11 62189705 62189705 + Missense_Mutation SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr11:62189705T>C ENST00000278282.2 + 2 129 c.68T>C c.(67-69)aTc>aCc p.I23T CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR NM_003357.4 NP_003348.1 P11684 UTER_HUMAN secretoglobin, family 1A, member 1 (uteroglobin) 23 embryo implantation|signal transduction extracellular region binding|phospholipase A2 inhibitor activity lung(1) 1 TCTGCAGAGATCTGCCCGAGC 0.557000 3 65 0 0 0.217242 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529936 80529936 + Missense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr2:80529936C>T ENST00000295057.3 - 2 1665 c.1009G>A c.(1009-1011)Gat>Aat p.D337N LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 337 LRRCT. axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 AAGTTGCCATCGTAGCGCCCC 0.657000 HNSCC(69;0.2) 4 22 0 0 0.184627 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088476 43088476 + Missense_Mutation SNP T T A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr10:43088476T>A ENST00000359467.3 - 5 2036 c.1922A>T c.(1921-1923)gAg>gTg p.E641V ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 641 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TTTTCCACACTCATTACATTC 0.388000 4 107 0 0 0.217242 0 0 NLRP10 338322 broad.mit.edu 37 11 7982031 7982031 + Missense_Mutation SNP C C A rs74451065 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr11:7982031C>A ENST00000328600.2 - 2 1289 c.1128G>T c.(1126-1128)gaG>gaT p.E376D NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 376 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTCTAGGTGTCTCTAAGACAA 0.547000 10 26 1.76689e-08 2.10523e-08 0.335167 1 0 KAT6B 23522 broad.mit.edu 37 10 76735743 76735743 + Missense_Mutation SNP A A T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr10:76735743A>T ENST00000287239.4 + 8 2137 c.1648A>T c.(1648-1650)Atc>Ttc p.I550F KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 550 Negatively regulates HAT activity. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding GCTTTCTCATATCTATACCAC 0.512000 9 59 0 0 0.387290 0 0 SIDT1 54847 broad.mit.edu 37 3 113325954 113325954 + Missense_Mutation SNP G G A rs146353910 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr3:113325954G>A ENST00000264852.4 + 15 2197 c.1471G>A c.(1471-1473)Gtc>Atc p.V491I SIDT1_ENST00000463226.1_Intron|SIDT1_ENST00000393830.3_Missense_Mutation_p.V491I NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 491 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 CCCCTTGGGCGTCCTGAGGTA 0.433000 3 58 0 0 0.150653 0 0 FAM174B 400451 broad.mit.edu 37 15 93173520 93173520 + Missense_Mutation SNP C C G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr15:93173520C>G ENST00000327355.5 - 2 698 c.400G>C c.(400-402)Gag>Cag p.E134Q FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 134 integral to membrane endometrium(2)|lung(1) 3 TCCACTCGCTCTGCTGGAGTG 0.478000 8 26 0 0 0.307466 0 0 RYR2 6262 broad.mit.edu 37 1 237753955 237753955 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr1:237753955G>A ENST00000366574.2 + 31 4140 c.3823G>A c.(3823-3825)Ggc>Agc p.G1275S RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1275 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.G1273R(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGAATAGACGGCACCATAGA 0.423000 19 105 0 0 0.592651 0 0 ADAD2 161931 broad.mit.edu 37 16 84229221 84229221 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr16:84229221G>A ENST00000268624.3 + 7 1309 c.1216G>A c.(1216-1218)Gga>Aga p.G406R ADAD2_ENST00000315906.5_Missense_Mutation_p.G324R|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 324 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 GCCAGGGCCCGGACCCCCATT 0.687000 4 29 0 0 0.150653 0 0 FLI1 2313 broad.mit.edu 37 11 128680431 128680431 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr11:128680431G>A ENST00000344954.6 + 9 1196 c.808G>A c.(808-810)Gag>Aag p.E270K FLI1_ENST00000429175.2_Missense_Mutation_p.E303K|FLI1_ENST00000534087.1_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 303 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) TATCACCTGGGAGGGGACCAA 0.617000 T EWSR1 Ewing sarcoma 3 9 0 0 0.115264 0 0 CABP1 9478 broad.mit.edu 37 12 121094004 121094004 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr12:121094004G>A ENST00000453000.1 + 1 903 c.391G>A c.(391-393)Gca>Aca p.A131T CABP1_ENST00000288616.3_Missense_Mutation_p.A52T|CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron Q9NZU7 CABP1_HUMAN calcium binding protein 1 0 Pro-rich. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCAGAACTGCGCAGTCATGCA 0.647000 3 39 0 0 0.115264 0 0 ZFHX3 463 broad.mit.edu 37 16 72830348 72830348 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr16:72830348G>A ENST00000268489.5 - 9 6905 c.6233C>T c.(6232-6234)cCg>cTg p.P2078L ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1164L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2078 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) TGGCTGGGCCGGTGCAATTGT 0.672000 3 93 0 0 0.115264 0 0 OBSCN 84033 broad.mit.edu 37 1 228487672 228487672 + Missense_Mutation SNP G G A rs55939441 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr1:228487672G>A ENST00000570156.2 + 51 13638 c.13564G>A c.(13564-13566)Gcc>Acc p.A4522T OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1212T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3565 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GAGAAAGGCGGCCCCCGTGGA 0.557000 3 67 0 0 0.115264 0 0 NLGN1 22871 broad.mit.edu 37 3 173322456 173322456 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr3:173322456G>A ENST00000457714.1 + 3 497 c.68G>A c.(67-69)cGg>cAg p.R23Q NLGN1_ENST00000361589.4_Missense_Mutation_p.R23Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R23Q|NLGN1_ENST00000401917.3_Missense_Mutation_p.R23Q NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 23 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.R23L(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TTGGTACACCGGGGATTGGGT 0.507000 27 84 0 0 0.693898 0 0 RAG1 5896 broad.mit.edu 37 11 36596041 36596041 + Missense_Mutation SNP G G A rs104894291 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr11:36596041G>A ENST00000299440.5 + 2 1299 c.1187G>A c.(1186-1188)cGc>cAc p.R396H NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 396 R -> C (in OS).|R -> H (in OS).|R -> L (in OS). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.R396H(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GGCCGGCCCCGCCAACATCTT 0.478000 Familial Hemophagocytic Lymphohistiocytosis 3 66 0 0 0.115264 0 0 ZBBX 79740 broad.mit.edu 37 3 167000276 167000276 + Silent SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr3:167000276T>C ENST00000392766.2 - 19 2227 c.1887A>G c.(1885-1887)aaA>aaG p.K629K ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000307529.5_Silent_p.K668K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392767.2_Silent_p.K629K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 629 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 GTCTCTGTGATTTCTGACCTA 0.353000 3 70 0 0 0.150653 0 0 CD38 952 broad.mit.edu 37 4 15835906 15835906 + Nonsense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr4:15835906G>A ENST00000226279.2 + 4 703 c.566G>A c.(565-567)tGg>tAg p.W189* NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 189 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 TCAGTATTCTGGAAAACGGTT 0.398000 26 54 0 0 0.760397 0 0 CLCNKB 1188 broad.mit.edu 37 1 16375645 16375646 + Frame_Shift_Del DEL CC CC - TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr1:16375645_16375646delCC ENST00000375679.4 + 8 797_798 c.686_687delCC c.(685-687)tfs p.S229fs CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GTCATGTCTTCCCACTTCTCTG 0.634 23 131 --- --- --- --- GRK6 2870 broad.mit.edu 37 5 176863219 176863221 + In_Frame_Del DEL GAA GAA - rs76969408 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr5:176863219_176863221delGAA ENST00000355472.5 + 12 1371_1373 c.1203_1205delGAA c.(1201-1206)gtg>gt p.VK401del GRK6_ENST00000393576.3_In_Frame_Del_p.VK367del|GRK6_ENST00000528793.1_In_Frame_Del_p.VK401del|GRK6_ENST00000355958.5_In_Frame_Del_p.VK401del|GRK6_ENST00000507633.1_In_Frame_Del_p.VK401del NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 401 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.K402delK(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCGGCTGGTGAAGGAGGTCCCC 0.645 9 134 --- --- --- --- C6orf10 10665 broad.mit.edu 37 6 32260980 32260982 + In_Frame_Del DEL CTT CTT - TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr6:32260980_32260982delCTT ENST00000375015.4 - 26 1665_1667 c.1465_1467delAAG c.(1465-1467)del p.K489del C6orf10_ENST00000527965.1_In_Frame_Del_p.K474del|C6orf10_ENST00000447241.2_In_Frame_Del_p.K490del|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000375007.4_In_Frame_Del_p.K488del|C6orf10_ENST00000533191.1_In_Frame_Del_p.K488del Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 490 Lys-rich. integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 CAAAACTCTCCTTCTTTTCTTGG 0.379 23 100 --- --- --- --- PXDNL 137902 broad.mit.edu 37 8 52359596 52359596 + Frame_Shift_Del DEL T T - TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 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 8 241 --- --- --- --- RP11-867G2.8 0 broad.mit.edu 37 11 94373825 94373827 + RNA DEL ACC ACC - rs112219584 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr11:94373825_94373827delACC ENST00000536540.1 - 0 437 RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.5_ENST00000438416.2_lincRNA tgcttggaagaccaccaccacca 0.557 3 6 --- --- --- --- RP11-159L20.2 0 broad.mit.edu 37 14 31291081 31291082 + RNA INS - - A rs111525555 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr14:31291081_31291082insA ENST00000554665.1 - 0 208 AAATTAAAAAGAAAAAAAAAAC 0.312 2 4 --- --- --- --- FOXF1 2294 broad.mit.edu 37 16 86544211 86544213 + In_Frame_Del DEL CGG CGG - TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr16:86544211_86544213delCGG ENST00000262426.4 + 1 79_81 c.36_38delCGG c.(34-39)cac>ca p.HG12del NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 12 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 AGCCACCGCAcggcggcggcggc 0.803 2 4 --- --- --- --- C19orf33 64073 broad.mit.edu 37 19 38795581 38795583 + In_Frame_Del DEL AAG AAG - TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr19:38795581_38795583delAAG ENST00000301246.5 + 4 399_401 c.298_300delAAG c.(298-300)del p.K102del C19orf33_ENST00000588605.1_3'UTR NM_033520.1 NP_277055.1 Q9GZP8 IMUP_HUMAN chromosome 19 open reading frame 33 102 nucleus all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ggagaagggcaagaagaaggagG 0.596 9 5 --- --- --- --- CLCNKB 1188 broad.mit.edu 37 1 16375645 16375646 + Frame_Shift_Del DEL CC CC - TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr1:16375645_16375646delCC ENST00000375679.4 + 8 797_798 c.686_687delCC c.(685-687)tfs p.S229fs CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GTCATGTCTTCCCACTTCTCTG 0.634 23 131 --- --- --- --- RP11-159L20.2 0 broad.mit.edu 37 14 31291081 31291082 + RNA INS - - A rs111525555 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr14:31291081_31291082insA ENST00000554665.1 - 0 208 AAATTAAAAAGAAAAAAAAAAC 0.312 2 4 --- --- --- --- CDH5 1003 broad.mit.edu 37 16 66422312 66422312 + Frame_Shift_Del DEL G G - TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr16:66422312delG ENST00000341529.3 + 4 733 c.585delG c.(583-585)aafs p.K195fs CDH5_ENST00000563425.2_Frame_Shift_Del_p.K195fs NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 195 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) AAATCCTGAAGGGGAAAGAGT 0.517 26 159 --- --- --- --- RP11-345M22.1 0 broad.mit.edu 37 16 79756932 79756934 + RNA DEL TGG TGG - rs67854673 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr16:79756932_79756934delTGG ENST00000561510.1 + 0 361 atgatggtgatggtggtggtggt 0.567 3 5 --- --- --- --- FOXF1 2294 broad.mit.edu 37 16 86544211 86544213 + In_Frame_Del DEL CGG CGG - TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr16:86544211_86544213delCGG ENST00000262426.4 + 1 79_81 c.36_38delCGG c.(34-39)cac>ca p.HG12del NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 12 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 AGCCACCGCAcggcggcggcggc 0.803 2 4 --- --- --- --- C19orf33 64073 broad.mit.edu 37 19 38795581 38795583 + In_Frame_Del DEL AAG AAG - TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 24bd416b-e5e7-4f84-bf13-71ba28824b97 g.chr19:38795581_38795583delAAG ENST00000301246.5 + 4 399_401 c.298_300delAAG c.(298-300)del p.K102del C19orf33_ENST00000588605.1_3'UTR NM_033520.1 NP_277055.1 Q9GZP8 IMUP_HUMAN chromosome 19 open reading frame 33 102 nucleus all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ggagaagggcaagaagaaggagG 0.596 9 5 --- --- --- ---