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 RASGEF1A 221002 broad.mit.edu 37 10 43697262 43697262 + Silent SNP A A G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr10:43697262A>G ENST00000395809.1 - 4 2959 c.453T>C c.(451-453)tgT>tgC p.C151C RASGEF1A_ENST00000395810.1_Silent_p.C151C|RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000374459.1_Silent_p.C159C Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 151 N-terminal Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 TCACCTCATCACACTGGGTGA 0.617000 11 89 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109807559 109807559 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:109807559G>A ENST00000271332.3 + 12 5595 c.5534G>A c.(5533-5535)cGc>cAc p.R1845H NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1845 EGF-like 6; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GTGTGTACCCGCAAGCCCAGT 0.557000 5 586 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 7 223 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 6 506 0 0 1 0 0 CASKIN1 57524 broad.mit.edu 37 16 2228635 2228635 + Silent SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:2228635C>T ENST00000343516.6 - 20 4304 c.4212G>A c.(4210-4212)gcG>gcA p.A1404A NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 1404 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 TGCTCTTTTCCGCCGCCGAGT 0.716000 14 104 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 4 57 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 14 250 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17017734 17017734 + RNA SNP C C T rs12561805 by1000genomes TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:17017734C>T ENST00000492551.1 - 0 1993 NR_026567.1 CAGCTTCTTCCGCAGGAGGTC 0.647000 20 181 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644064 53644064 + Missense_Mutation SNP T T C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:53644064T>C ENST00000452676.2 - 5 2446 c.2020A>G c.(2020-2022)Aga>Gga p.R674G ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GTATGAACTCTCCGATGTCTT 0.428000 8 655 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40853958 40853958 + Missense_Mutation SNP T T A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr18:40853958T>A ENST00000255224.3 - 2 804 c.436A>T c.(436-438)Act>Tct p.T146S SYT4_ENST00000590752.1_Missense_Mutation_p.T128S|SYT4_ENST00000586678.1_Intron NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 146 cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 TCTTCTGAAGTAAGGGAAGTG 0.448000 36 163 0 0 1 0 0 LMBR1L 55716 broad.mit.edu 37 12 49491751 49491751 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr12:49491751G>A ENST00000267102.8 - 16 1720 c.1378C>T c.(1378-1380)Cgg>Tgg p.R460W LMBR1L_ENST00000547382.1_Missense_Mutation_p.R440W|LMBR1L_ENST00000395141.4_Missense_Mutation_p.R455W NM_018113.2 NP_060583.2 Q6UX01 LMBRL_HUMAN limb development membrane protein 1-like 460 endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 AGCTCTGCCCGCACAGCTGCA 0.562000 OREG0021783 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 514 0 0 1 0 0 PSG1 0 broad.mit.edu 37 19 43383710 43383710 + Silent SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:43383710G>A ENST00000244296.2 - 1 161 c.24C>T c.(22-24)ccC>ccT p.P8P PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000436291.2_Silent_p.P8P|PSG1_ENST00000403380.3_Silent_p.P8P|PSG1_ENST00000595356.1_Silent_p.P8P|PSG1_ENST00000312439.6_Silent_p.P8P|PSG1_ENST00000595124.1_Silent_p.P8P NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) GCTGTGTGCAGGGAGGGGCTG 0.572000 88 407 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95514946 95514946 + RNA SNP C C T rs143937878 by1000genomes TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr2:95514946C>T ENST00000432432.2 - 0 711 NR_040113.1 p.R201Q(1) ACTACTGTACCGTCTCAGCCT 0.308000 6 791 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126144428 126144428 + Silent SNP G G C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr9:126144428G>C ENST00000373624.2 - 22 2514 c.2313C>G c.(2311-2313)ggC>ggG p.G771G DENND1A_ENST00000394219.3_Silent_p.G782G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Silent_p.G556G NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 771 Pro-rich. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 CAGCCCCGGGGCCAGGGCTGA 0.716000 11 50 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62255003 62255003 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr15:62255003G>A ENST00000261517.5 - 33 3453 c.3380C>T c.(3379-3381)gCc>gTc p.A1127V VPS13C_ENST00000395896.4_Missense_Mutation_p.A1127V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A1084V|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1084V NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1127 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TTCTAGTCGGGCAAAAAGTGA 0.328000 5 248 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158300606 158300606 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:158300606G>A ENST00000368168.3 - 2 415 c.308C>T c.(307-309)gCc>gTc p.A103V NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 103 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) GAAATCACCGGCAAAGTCTTG 0.433000 7 1195 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084094 26084094 + RNA SNP T T C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr20:26084094T>C ENST00000478176.1 - 0 363 NR_003678.1 aaaacataCATTCTTAGAATA 0.299000 3 50 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 5 175 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902612 40902612 + Silent SNP C C G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:40902612C>G ENST00000324001.7 - 7 1917 c.1647G>C c.(1645-1647)ccG>ccC p.P549P PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 549 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.P549P(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGACACTTTCGGCAGCTGTA 0.577000 9 719 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 9 375 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644061 53644061 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:53644061C>T ENST00000452676.2 - 5 2449 c.2023G>A c.(2023-2025)Gtt>Att p.V675I ZNF347_ENST00000601469.2_Missense_Mutation_p.V675I|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.V674I NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 674 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) CCAGTATGAACTCTCCGATGT 0.423000 7 636 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462043 50462043 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:50462043C>T ENST00000447370.2 - 7 1310 c.1220G>A c.(1219-1221)gGa>gAa p.G407E SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 407 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CACGGTCTGTCCCCACCGGGT 0.682000 4 205 0 0 1 0 0 TMEM257 9142 broad.mit.edu 37 X 144909364 144909364 + Silent SNP A A C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chrX:144909364A>C ENST00000408967.2 + 1 437 c.169A>C c.(169-171)Agg>Cgg p.R57R NM_004709.2 NP_004700.1 transmembrane protein 257 ATTTTATTTTAGGATTTTTAT 0.328000 76 105 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13679189 13679189 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr3:13679189G>A ENST00000404922.3 + 18 3585 c.3466G>A c.(3466-3468)Gcg>Acg p.A1156T FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156T|FBLN2_ENST00000295760.7_Missense_Mutation_p.A1109T|FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135T NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 1109 Domain III. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.A1156T(2)|p.A575T(2) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CATTGGCCCCGCGCCAGCCTT 0.622000 6 143 0 0 1 0 0 PPP4R2 151987 broad.mit.edu 37 3 73047308 73047308 + Splice_Site SNP A A G rs150423598 TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr3:73047308A>G ENST00000356692.5 + 2 368 c.116_splice c.e2+1 p.M39_splice PPP4R2_ENST00000394284.3_Splice_Site_p.I39_splice|PPP4R2_ENST00000295862.9_5'UTR|PPP4R2_ENST00000495566.1_Splice_Site_p.M39_splice Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 39 mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2) 12 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) TGGAGAAACAATGTGAGTTGA 0.348000 70 475 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 9 190 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221543 55221543 + RNA SNP T T G rs45452596 TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:55221543T>G ENST00000413439.1 + 0 1323 CCTGTGAGGGTCTCCCACGGG 0.662000 5 204 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 5 125 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5800472 5800472 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr4:5800472C>T ENST00000382674.2 + 15 2441 c.2257C>T c.(2257-2259)Cgg>Tgg p.R753W EVC_ENST00000264956.6_Missense_Mutation_p.R753W|EVC_ENST00000515113.1_3'UTR P57679 EVC_HUMAN Ellis van Creveld syndrome 753 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) GGTGCATGCACGGAATGCAGC 0.637000 8 74 0 0 1 0 0 WDR48 57599 broad.mit.edu 37 3 39136218 39136218 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr3:39136218G>A ENST00000302313.5 + 19 2046 c.2018G>A c.(2017-2019)cGt>cAt p.R673H WDR48_ENST00000544962.1_Missense_Mutation_p.R398H|WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.R591H|WDR48_ENST00000418020.1_Missense_Mutation_p.R117H NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 673 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CTCCATTACCGTCAGAAGTCC 0.473000 72 370 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64526867 64526867 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr3:64526867G>A ENST00000498707.1 - 36 5767 c.5425C>T c.(5425-5427)Cgg>Tgg p.R1809W ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1781W NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1809 GON. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCATCGCGCCGGCTCCCGTTA 0.473000 83 380 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43706012 43706012 + Missense_Mutation SNP A A G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr21:43706012A>G ENST00000398437.1 + 9 1467 c.1319A>G c.(1318-1320)cAa>cGa p.Q440R ABCG1_ENST00000340588.4_Missense_Mutation_p.Q402R|ABCG1_ENST00000398449.3_Missense_Mutation_p.Q294R|ABCG1_ENST00000398457.2_Missense_Mutation_p.Q296R|ABCG1_ENST00000343687.3_Missense_Mutation_p.Q305R|ABCG1_ENST00000361802.2_Missense_Mutation_p.Q294R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.Q291R P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 294 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) AGTCAAGGACAATGTGTGTAC 0.493000 113 795 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 9 426 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7100076 7100076 + Splice_Site SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr17:7100076C>T ENST00000399510.2 - 11 2064 c.1212_splice c.e11+1 p.S404_splice DLG4_ENST00000302955.6_Splice_Site_p.S358_splice|DLG4_ENST00000399506.2_Splice_Site_p.S361_splice NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 361 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 CTTCCCTCACCGACAGGATCT 0.667000 5 37 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20045210 20045210 + Silent SNP A A G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:20045210A>G ENST00000343769.5 + 4 1474 c.1446A>G c.(1444-1446)aaA>aaG p.K482K AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 482 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 AACCCTACAAATGTGAAGAAT 0.378000 5 575 0 0 1 0 0 TRIM11 81559 broad.mit.edu 37 1 228584522 228584522 + Missense_Mutation SNP C C A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:228584522C>A ENST00000366699.3 - 5 1223 c.985G>T c.(985-987)Gtt>Ttt p.V329F RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000493030.2_Intron|TRIM11_ENST00000284551.6_Intron|TRIM11_ENST00000460651.1_Intron Q96F44 TRI11_HUMAN tripartite motif containing 11 0 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) TTCCCAACAACCCACCACCAT 0.517000 3 24 0.115264 0.116118 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 6 386 0 0 1 0 0 RUVBL2 10856 broad.mit.edu 37 19 49507662 49507662 + Silent SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:49507662G>A ENST00000413176.2 + 4 1265 c.117G>A c.(115-117)acG>acA p.T39T RUVBL2_ENST00000595090.1_Silent_p.T84T|RUVBL2_ENST00000601968.1_Silent_p.T39T Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 84 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) CGGGGAAGACGGCCATCGCCA 0.612000 5 287 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr22:42538870A>C ENST00000424775.1 - 0 440 CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 7 177 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 5 200 0 0 1 0 0 URI1 8725 broad.mit.edu 37 19 30433560 30433560 + Missense_Mutation SNP G G C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:30433560G>C ENST00000542441.2 + 1 403 c.106G>C c.(106-108)Gag>Cag p.E36Q URI1_ENST00000392271.1_5'UTR|URI1_ENST00000360605.4_Intron|URI1_ENST00000312051.6_Missense_Mutation_p.R7S O94763 RMP_HUMAN URI1, prefoldin-like chaperone 36 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding GCTGCGCGAGGAGCAGGAAAA 0.786000 14 84 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30672363 30672363 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr6:30672363C>T ENST00000376406.3 - 10 5244 c.4597G>A c.(4597-4599)Gca>Aca p.A1533T MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A1269T NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1533 Interaction with the PRKDC complex. A -> T (in Ref. 4; BAC54931/BAF31266). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TCAGGGGCTGCGGGCACAACT 0.592000 Other conserved DNA damage response genes 6 676 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723596 49723596 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr3:49723596G>A ENST00000449682.2 - 9 1407 c.1046C>T c.(1045-1047)cCc>cTc p.P349L MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 335 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.P335L(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGAGCCGTCGGGGTTCCGGCA 0.667000 4 96 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37368703 37368703 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:37368703G>A ENST00000529555.1 + 2 1759 c.971G>A c.(970-972)aGa>aAa p.R324K ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R324K|ZNF345_ENST00000589046.1_Missense_Mutation_p.R324K|ZNF345_ENST00000432005.2_Intron Q14585 ZN345_HUMAN zinc finger protein 345 324 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAAGCCTTTAGAAGTGGTTCA 0.413000 60 341 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 5 274 0 0 1 0 0 GK 2710 broad.mit.edu 37 X 30718984 30718984 + Silent SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chrX:30718984G>A ENST00000378943.3 + 10 974 c.795G>A c.(793-795)gtG>gtA p.V265V RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Silent_p.V66V|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378945.3_Silent_p.V265V|GK_ENST00000378946.3_Silent_p.V271V NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase 271 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1)|large_intestine(3) 4 CTGCATTGGTGGGACAAATGT 0.353000 58 126 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96769570 96769570 + Missense_Mutation SNP T T C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr14:96769570T>C ENST00000359933.4 - 33 5758 c.4865A>G c.(4864-4866)tAc>tGc p.Y1622C ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1622 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GCATGGCGGGTAGACTTCATG 0.433000 35 212 0 0 1 0 0 MARCH5 54708 broad.mit.edu 37 10 94109589 94109589 + Missense_Mutation SNP A A G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr10:94109589A>G ENST00000358935.2 + 5 1047 c.715A>G c.(715-717)Atc>Gtc p.I239V NM_017824.4 NP_060294.1 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 239 cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane GTPase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 ACAAAGGACAATCTTGGTAAG 0.348000 48 321 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21080894 21080894 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:21080894G>A ENST00000261383.3 - 23 3222 c.3223C>T c.(3223-3225)Cgc>Tgc p.R1075C DNAH3_ENST00000415178.1_Missense_Mutation_p.R1075C NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1075 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R1075C(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCTTGTATGCGAATTAGCTTT 0.458000 46 313 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152539461 152539461 + Missense_Mutation SNP T T C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr6:152539461T>C ENST00000367255.5 - 121 22723 c.22122A>G c.(22120-22122)atA>atG p.I7374M SYNE1_ENST00000423061.1_Missense_Mutation_p.I7303M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7374M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7303M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I6986M|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1898M NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7374 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCCCTTGTAGTATTTCTTCAG 0.433000 HNSCC(10;0.0054) 204 1177 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907458 12907458 + Missense_Mutation SNP T T C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:12907458T>C ENST00000317869.6 - 2 910 c.685A>G c.(685-687)Atg>Gtg p.M229V NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TCTTTCTTCATGGAGCTACTG 0.458000 6 230 0 0 1 0 0 PHC1 1911 broad.mit.edu 37 12 9085340 9085340 + Silent SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr12:9085340G>A ENST00000433083.2 + 7 1297 c.1152G>A c.(1150-1152)caG>caA p.Q384Q PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Silent_p.Q429Q|PHC1_ENST00000536844.1_Silent_p.Q208Q|PHC1_ENST00000543824.1_Silent_p.Q429Q P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 429 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 agcagcagcagcaacaacagc 0.622000 5 111 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343247 130343247 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr11:130343247G>A ENST00000299164.2 + 8 2384 c.2384G>A c.(2383-2385)cGc>cAc p.R795H NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 795 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CCCCGGGTCCGCTACTCCTTC 0.657000 215 681 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21727066 21727066 + Silent SNP C C A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr7:21727066C>A ENST00000328843.6 + 35 5897 c.5866C>A c.(5866-5868)Cga>Aga p.R1956R DNAH11_ENST00000409508.3_Silent_p.R1949R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1956 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGAGTTCAACCGAATCTCTGT 0.443000 Kartagener syndrome 21 113 2.98393e-07 3.09782e-07 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. 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) cgccgccgccgccaccgccgc 0.706000 5 105 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 6 105 0 0 1 0 0 CXCL12 6387 broad.mit.edu 37 10 44876321 44876321 + Silent SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr10:44876321G>A ENST00000374429.2 - 2 155 c.69C>T c.(67-69)ccC>ccT p.P23P CXCL12_ENST00000374426.2_Silent_p.P23P|CXCL12_ENST00000395794.2_Silent_p.P23P|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395795.4_Silent_p.P23P|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000395793.3_Silent_p.P23P|CXCL12_ENST00000343575.6_Silent_p.P23P NM_000609.5|NM_001277990.1 NP_000600.1|NP_001264919.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 23 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity p.P23P(3) endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) TCAGGCTGACGGGCTTCCCTA 0.507000 92 564 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 6 180 8.12818e-05 8.2495e-05 1 1 0 ABCC12 94160 broad.mit.edu 37 16 48145558 48145558 + Missense_Mutation SNP A A G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:48145558A>G ENST00000311303.3 - 15 2485 c.2140T>C c.(2140-2142)Tac>Cac p.Y714H ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.Y714H NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 714 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GCTGCATTGTAAAGGTGTTCA 0.488000 7 1010 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 372257 372257 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr9:372257C>T ENST00000432829.2 + 18 2192 c.1876C>T c.(1876-1878)Cca>Tca p.P626S DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000453981.1_Missense_Mutation_p.P694S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S|DOCK8_ENST00000382331.1_5'UTR NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 694 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GGAAAAATTGCCACCCAACTA 0.448000 5 429 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 4 213 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 7 530 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 5 160 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 6 535 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350487 100350487 + RNA SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr7:100350487C>T ENST00000542585.1 + 0 2907 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACCCACCATCCCC 0.502000 7 659 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 7 1034 0 0 1 0 0 RLN2 6019 broad.mit.edu 37 9 5304440 5304440 + Silent SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr9:5304440G>A ENST00000381627.3 - 1 529 c.141C>T c.(139-141)tgC>tgT p.C47C RLN2_ENST00000308420.3_Silent_p.C47C NM_134441.2 NP_604390.1 P04090 REL2_HUMAN relaxin 2 47 female pregnancy extracellular region hormone activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 11 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) TGCTCATGCCGCAAATGGCAA 0.552000 6 220 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3293521 3293521 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:3293521C>T ENST00000219596.1 - 10 2005 c.1966G>A c.(1966-1968)Gag>Aag p.E656K MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.E476K|MEFV_ENST00000536379.1_Missense_Mutation_p.E445K NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 656 B30.2/SPRY. E -> A (in arFMF). inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) ACCTCCACCTCCCAGTAACGG 0.542000 94 456 0 0 1 0 0 FBXO34 55030 broad.mit.edu 37 14 55818287 55818287 + Silent SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr14:55818287G>A ENST00000313833.4 + 2 1424 c.1179G>A c.(1177-1179)tcG>tcA p.S393S FBXO34_ENST00000440021.1_Silent_p.S393S NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 393 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 AGCCGGGTTCGCAAACTGCCG 0.507000 7 509 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:9204125G>A ENST00000429566.3 + 1 271 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557000 6 307 0 0 1 0 0 CRYGD 1421 broad.mit.edu 37 2 208988981 208988981 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr2:208988981G>A ENST00000264376.4 - 2 134 c.107C>T c.(106-108)gCg>gTg p.A36V NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 36 Beta/gamma crystallin 'Greek key' 1. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) GTCCACGCGCGCCGAGTTGCA 0.652000 4 75 0 0 1 0 0 SUMF2 25870 broad.mit.edu 37 7 56142409 56142409 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr7:56142409C>T ENST00000434526.2 + 5 603 c.572C>T c.(571-573)gCc>gTc p.A191V SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V NM_001042469.1|NM_015411.2 NP_001035934.2|NP_056226.2 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 172 endoplasmic reticulum lumen metal ion binding breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 14 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGGGAGTTTGCCGCCCGAGGG 0.567000 OREG0018081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 430 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 5 192 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61448662 61448662 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr2:61448662G>A ENST00000398571.2 - 66 7950 c.7874C>T c.(7873-7875)tCt>tTt p.S2625F USP34_ENST00000472689.1_5'UTR NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2625 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CAGAATATAAGATGCAAAGGG 0.383000 25 149 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 6 505 0 0 1 0 0 RPRD1B 58490 broad.mit.edu 37 20 36687836 36687836 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr20:36687836C>T ENST00000373433.4 + 5 971 c.569C>T c.(568-570)gCc>gTc p.A190V NM_021215.3 NP_067038.1 Q9NQG5 RPR1B_HUMAN regulation of nuclear pre-mRNA domain containing 1B 190 endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1) 12 CTGGAAAATGCCGCATCAGGG 0.413000 5 334 0 0 1 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545865 22545865 + Missense_Mutation SNP G G C rs147500263 by1000genomes TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:22545865G>C ENST00000424340.1 + 7 1840 c.1561G>C c.(1561-1563)Gcc>Ccc p.A521P NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 TCAGCTCACTGCCCTTCCACC 0.567000 9 1281 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65845149 65845149 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:65845149G>A ENST00000395325.3 + 5 594 c.437G>A c.(436-438)cGg>cAg p.R146Q DNAJC6_ENST00000263441.7_Missense_Mutation_p.R133Q|DNAJC6_ENST00000371069.4_Missense_Mutation_p.R203Q NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 146 Phosphatase tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 GCTGTGTGTCGGAATATGTAT 0.458000 87 486 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552090 178552090 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr5:178552090C>T ENST00000251582.7 - 19 2943 c.2842G>A c.(2842-2844)Gac>Aac p.D948N NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 948 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GTGGTGTTGTCGTGTAGCGGC 0.692000 6 895 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230312173 230312173 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr2:230312173C>T ENST00000341772.4 - 8 1479 c.1345G>A c.(1345-1347)Ggg>Agg p.G449R NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 449 EGF-like 6. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) AAGTGTACCCCGTCCACATAG 0.572000 19 127 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113737607 113737607 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr3:113737607G>A ENST00000295878.3 - 8 1227 c.1081C>T c.(1081-1083)Cgg>Tgg p.R361W KIAA1407_ENST00000545063.1_Missense_Mutation_p.R192W NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 361 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CTCCAGGCCCGCAGGACCTTC 0.478000 9 1331 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43580819 43580819 + Silent SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr7:43580819C>T ENST00000395891.1 + 25 4682 c.4077C>T c.(4075-4077)gaC>gaT p.D1359D HECW1_ENST00000453890.1_Silent_p.D1325D NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1359 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 ACCTTCTTGACGCTTTCTTCA 0.522000 48 424 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 18 165 9.95505e-16 1.05772e-15 1 1 0 PRSS3P2 0 broad.mit.edu 37 7 142481888 142481888 + RNA SNP T T C rs138077672 by1000genomes TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr7:142481888T>C ENST00000603901.1 + 0 567 NR_001296.3 TGGGCTTCCTTGAGGGAGGCA 0.522000 6 173 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 7 125 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T T C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr12:57485457T>C ENST00000300131.3 + 2 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000357680.4_Silent_p.P211P NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 8 77 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 4 241 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 7 371 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2290352 2290352 + Silent SNP G G T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr20:2290352G>T ENST00000381458.5 + 2 120 c.57G>T c.(55-57)gcG>gcT p.A19A NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 19 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) ACCGACAAGCGCATCACACAG 0.517000 72 475 1.1397e-45 1.22047e-45 1 1 0 SIGLEC11 114132 broad.mit.edu 37 19 50462047 50462047 + Missense_Mutation SNP A A C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:50462047A>C ENST00000447370.2 - 7 1306 c.1216T>G c.(1216-1218)Tgg>Ggg p.W406G SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 406 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GTCTGTCCCCACCGGGTCCAG 0.682000 6 204 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 10 1855 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160850421 160850421 + Silent SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:160850421G>A ENST00000326245.3 - 6 757 c.642C>T c.(640-642)ggC>ggT p.G214G ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 214 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCTGGGCGTCGCCAAAATCAT 0.443000 7 785 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107867468 107867468 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:107867468G>A ENST00000370067.1 + 3 1438 c.811G>A c.(811-813)Gtt>Att p.V271I NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370061.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370065.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370066.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370074.4_Missense_Mutation_p.V271I|NTNG1_ENST00000370068.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370070.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370072.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370071.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370073.2_Missense_Mutation_p.V271I Q9Y2I2 NTNG1_HUMAN netrin G1 271 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding p.V271I(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) AAGACCAGCCGTTGGGGAAAT 0.458000 42 339 0 0 1 0 0 PCDHA11 0 broad.mit.edu 37 5 140250312 140250312 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr5:140250312C>T ENST00000398640.2 + 1 1624 c.1624C>T c.(1624-1626)Ccg>Tcg p.P542S PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGGGCGTGCCGCCTCTGAG 0.692000 7 651 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114304261 114304261 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr9:114304261G>A ENST00000309235.5 + 6 1204 c.1046G>A c.(1045-1047)cGc>cAc p.R349H ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 349 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R349H(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 GTTCTGAACCGCAAGGAGAAA 0.423000 9 687 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20602110 20602110 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr18:20602110G>A ENST00000399722.2 + 18 2824 c.2473G>A c.(2473-2475)Gca>Aca p.A825T RBBP8_ENST00000327155.5_Missense_Mutation_p.A825T|RBBP8_ENST00000399725.2_Silent_p.Q792Q|RBBP8_ENST00000581687.1_Missense_Mutation_p.A3T|RBBP8_ENST00000360790.5_Missense_Mutation_p.A830T NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 825 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) AGATATGCCAGCAGAAGAAAG 0.353000 Homologous recombination 6 770 0 0 1 0 0 KLHL31 401265 broad.mit.edu 37 6 53519025 53519025 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr6:53519025G>A ENST00000370905.3 - 2 1186 c.1046C>T c.(1045-1047)aCg>aTg p.T349M KLHL31_ENST00000407079.1_Missense_Mutation_p.T349M NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) TGGCATTTCCGTAAGCTTGCT 0.483000 5 357 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 8 469 0 0 1 0 0 KCNV2 169522 broad.mit.edu 37 9 2718192 2718192 + Silent SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr9:2718192C>T ENST00000382082.3 + 1 691 c.453C>T c.(451-453)ttC>ttT p.F151F NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 151 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) AATACTTCTTCGACCGCGACC 0.652000 8 69 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43413586 43413586 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr6:43413586C>T ENST00000244533.3 + 13 3555 c.3196C>T c.(3196-3198)Cgc>Tgc p.R1066C ABCC10_ENST00000372530.4_Missense_Mutation_p.R1094C NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1094 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGAGCTGCGGCGCCTGGGCAG 0.652000 38 215 0 0 1 0 0 ZP3 7784 broad.mit.edu 37 7 76062797 76062797 + Silent SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr7:76062797C>T ENST00000416245.1 + 3 1111 c.18C>T c.(16-18)aaC>aaT p.N6N ZP3_ENST00000336517.4_Silent_p.N131N|ZP3_ENST00000394857.3_Silent_p.N182N P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) 182 binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 AGAACTGGAACGCTGAGAAGA 0.597000 51 250 0 0 1 0 0 GABBR1 0 broad.mit.edu 37 6 29574715 29574715 + Missense_Mutation SNP C C T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr6:29574715C>T ENST00000377034.4 - 18 2511 c.2176G>A c.(2176-2178)Gcc>Acc p.A726T GABBR1_ENST00000377012.4_Missense_Mutation_p.A609T|GABBR1_ENST00000377016.4_Missense_Mutation_p.A664T|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_Missense_Mutation_p.A609T NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 726 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.A726T(1) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) TGCCAGATGGCGAGAGTGAGG 0.577000 35 205 0 0 1 0 0 ZNF506 440515 broad.mit.edu 37 19 19905821 19905821 + Missense_Mutation SNP T T C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:19905821T>C ENST00000443905.2 - 4 1022 c.875A>G c.(874-876)aAa>aGa p.K292R ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000540806.2_Missense_Mutation_p.K292R|ZNF506_ENST00000450683.2_Missense_Mutation_p.K260R|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA Q5JVG8 ZN506_HUMAN zinc finger protein 506 292 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 AATAAAGGCTTTGCCACATTT 0.383000 44 278 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50315941 50315941 + Missense_Mutation SNP C C G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr10:50315941C>G ENST00000332853.3 - 2 178 c.155G>C c.(154-156)aGg>aCg p.R52T VSTM4_ENST00000298454.3_Missense_Mutation_p.R52T NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 52 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GTCCTTCCGCCTTTTCTGGGA 0.617000 9 98 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578554 7578554 + Splice_Site SNP A A T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr17:7578554A>T ENST00000420246.2 - 5 508 c.375_splice c.e5-1 p.Y126_splice TP53_ENST00000413465.2_Splice_Site_p.Y126_splice|TP53_ENST00000359597.4_Splice_Site_p.Y126_splice|TP53_ENST00000455263.2_Splice_Site_p.Y126_splice|TP53_ENST00000269305.4_Splice_Site_p.Y126_splice|TP53_ENST00000445888.2_Splice_Site_p.Y126_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 126 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAGGGGAGTACTGTAGGAAG 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 20 80 0 0 1 0 0 ACAP2 23527 broad.mit.edu 37 3 195027287 195027287 + Nonsense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr3:195027287G>A ENST00000326793.6 - 13 1299 c.1069C>T c.(1069-1071)Cag>Tag p.Q357* NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 357 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 ATACTGGTCTGAACAGCCTTA 0.383000 95 647 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76949326 76949326 + Silent SNP G G T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chrX:76949326G>T ENST00000373344.5 - 6 685 c.471C>A c.(469-471)ctC>ctA p.L157L ATRX_ENST00000395603.3_Intron|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000373341.1_Silent_p.L118L NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 157 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CGCGTTTTTTGAGATTTTCAG 0.348000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 12 139 5.03518e-11 5.30841e-11 1 1 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 5 567 0 0 1 0 0 EVI5 7813 broad.mit.edu 37 1 93159366 93159366 + Frame_Shift_Del DEL T T - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:93159366delT ENST00000370331.1 - 9 1231 c.1222delA c.(1222-1224)tgfs p.M408fs EVI5_ENST00000540033.1_Frame_Shift_Del_p.M408fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.M408fs NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 408 Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) TACTTTTTCATTTTTTTTGAA 0.318 10 488 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 7 593 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152083468 152083469 + Frame_Shift_Ins INS - - G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:152083468_152083469insG ENST00000368804.1 - 2 2223_2224 c.2224_2225insC c.(2224-2226)ggafs p.G742fs NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 742 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCACTCTCCCGGCGCCGCCTC 0.653 7 1068 --- --- --- --- UBE2Q1 55585 broad.mit.edu 37 1 154523416 154523416 + Frame_Shift_Del DEL T T - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:154523416delT ENST00000292211.4 - 12 1314 c.1235delA c.(1234-1236)acfs p.N412fs NM_017582.6 NP_060052.3 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q family member 1 412 ATP binding|protein binding|ubiquitin-protein ligase activity p.N412fs*>12(1)|p.G413fs*>11(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) AGCCTCACCGTTTTTTTCGTG 0.522 7 1208 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 7 248 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGGCTGCGTCCACCACCACCAC 0.601 7 831 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954 Gln-rich. snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 9 839 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - rs140194798 TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr2:196788374delT ENST00000312428.6 - 23 3870 c.3770delA c.(3769-3771)atfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCGCTAATATTTTTTTTTAC 0.418 7 356 --- --- --- --- AAMP 14 broad.mit.edu 37 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr2:219134766delG ENST00000248450.4 - 1 214 c.44delC c.(43-45)cafs p.P15fs AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs Q13685 AAMP_HUMAN angio-associated, migratory cell protein 15 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding p.L16fs*9(1) haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCTCCAGTGGGGGGGTGTC 0.617 7 1632 --- --- --- --- SLC11A1 6556 broad.mit.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr2:219252307delT ENST00000233202.6 + 7 931 c.591delT c.(589-591)gcfs p.A197fs SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 197 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGAAGCTTTTTTTGGAC 0.448 8 1898 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 7 294 --- --- --- --- TMF1 7110 broad.mit.edu 37 3 69082709 69082710 + Frame_Shift_Del DEL AG AG - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr3:69082709_69082710delAG ENST00000543976.1 - 10 2645_2646 c.2399_2400delCT c.(2398-2400)tfs p.S800fs CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000398559.2_Frame_Shift_Del_p.S797fs|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 797 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) CAAGCCTATCAGAAAGATTCTT 0.366 42 334 --- --- --- --- BBX 56987 broad.mit.edu 37 3 107497243 107497244 + Frame_Shift_Ins INS - - A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr3:107497243_107497244insA ENST00000415149.2 + 13 2407_2408 c.2080_2081insA c.(2080-2082)aaafs p.K694fs BBX_ENST00000402543.1_Frame_Shift_Ins_p.K694fs|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000406780.1_Frame_Shift_Ins_p.K694fs|BBX_ENST00000325805.8_Frame_Shift_Ins_p.K694fs|BBX_ENST00000416476.2_Frame_Shift_Ins_p.LK357fs NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 694 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) TGAAGAATTTGAAAAAAAATTC 0.381 7 515 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388467 1388468 + Frame_Shift_Del DEL CA CA - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr4:1388467_1388468delCA ENST00000324803.4 + 1 3128_3129 c.168_169delCA c.(166-171)ctcafs p.LT56fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 56 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCCGCCTGCTCACACGTGCCCA 0.644 7 1945 --- --- --- --- NKX6-1 4825 broad.mit.edu 37 4 85414481 85414483 + In_Frame_Del DEL GCC GCC - rs143458004 byFrequency TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr4:85414481_85414483delGCC ENST00000295886.4 - 3 1284_1286 c.1063_1065delGGC c.(1063-1065)del p.G355del NKX6-1_ENST00000515820.2_In_Frame_Del_p.G81del NM_006168.2 NP_006159.2 P78426 NKX61_HUMAN NK6 homeobox 1 355 Involved in DNA-binding (By similarity).|Poly-Gly. detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation nucleus central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 15 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) GCAGTAGGAGGCCGCCGCCGCCG 0.675 7 221 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 7 508 --- --- --- --- ZNF827 152485 broad.mit.edu 37 4 146823381 146823383 + In_Frame_Del DEL GTG GTG - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr4:146823381_146823383delGTG ENST00000508784.1 - 2 1255_1257 c.1028_1030delCAC c.(1027-1032)caa>c p.PQ343del ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_In_Frame_Del_p.PQ343del Q17R98 ZN827_HUMAN zinc finger protein 827 343 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TCCAGGGATTgtggtggtggtgg 0.512 7 180 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 11 721 --- --- --- --- RAPGEF6 51735 broad.mit.edu 37 5 130815368 130815369 + Frame_Shift_Ins INS - - T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr5:130815368_130815369insT ENST00000509018.1 - 16 2123_2124 c.1918_1919insA c.(1918-1920)taafs p.*640fs FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.*690fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.*355fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.*640fs NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 640 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) ATGGCGATTACTTTTTTTTTCA 0.366 7 631 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 9 600 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 7 54 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481923 142481925 + RNA DEL CAA CAA - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr7:142481923_142481925delCAA ENST00000603901.1 + 0 591 NR_001296.3 GTGATTAGACCAACCCTTCCCAT 0.537 13 171 --- --- --- --- AC006372.4 0 broad.mit.edu 37 7 157280615 157280615 + RNA DEL A A - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr7:157280615delA ENST00000444158.1 + 0 2547 ggcacacgggagagccgggga 0.761 5 4 --- --- --- --- SGK223 0 broad.mit.edu 37 8 8234868 8234869 + In_Frame_Ins INS - - GCCGCT rs59372311 by1000genomes TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr8:8234868_8234869insGCCGCT ENST00000520004.1 - 3 1314_1315 c.1050_1051insAGCGGC c.(1048-1053)ggccag>ggAGCGGCccag p.350_351GQ>GAAQ SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ Q86YV5 SG223_HUMAN 350 ATP binding|non-membrane spanning protein tyrosine kinase activity p.G350_A351insSG(1)|p.G350_S351insSG(1) GGGCTACTGGCGCCGCTGCCGC 0.653 29 52 --- --- --- --- ESRP1 54845 broad.mit.edu 37 8 95686610 95686611 + Frame_Shift_Ins INS - - A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr8:95686610_95686611insA ENST00000433389.2 + 12 1717_1718 c.1527_1528insA c.(1525-1530)caaaaafs p.QK509fs ESRP1_ENST00000358397.5_Frame_Shift_Ins_p.QK509fs|ESRP1_ENST00000423620.2_Frame_Shift_Ins_p.QK509fs|ESRP1_ENST00000454170.2_Frame_Shift_Ins_p.QK509fs NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 509 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding p.N512fs*8(2) ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 AGAAGTGTCATAAAAAAAACAT 0.436 8 416 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 8 1113 --- --- --- --- NFIL3 4783 broad.mit.edu 37 9 94172779 94172779 + Frame_Shift_Del DEL T T - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr9:94172779delT ENST00000297689.3 - 2 632 c.238delA c.(238-240)ggfs p.R81fs NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 81 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 TTTTTCCGCCTTTTTTCCCAA 0.423 8 1087 --- --- --- --- SEC61B 10952 broad.mit.edu 37 9 101992661 101992668 + Frame_Shift_Del DEL TTCTGTAT TTCTGTAT - rs1804433 TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr9:101992661_101992668delTTCTGTAT ENST00000498603.1 + 4 351_358 c.84_91delTTCTGTAT c.(82-93)gcttfs p.ASVF28fs SEC61B_ENST00000223641.4_Frame_Shift_Del_p.ASVF82fs P60468 SC61B_HUMAN Sec61 beta subunit 82 ER-associated protein catabolic process|protein import into nucleus, translocation|retrograde protein transport, ER to cytosol|transmembrane transport endoplasmic reticulum Sec complex|integral to membrane epidermal growth factor binding kidney(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(62;0.0559) TGTTCATCGCTTCTGTATTTATGTTGCA 0.380 52 764 --- --- --- --- GPRIN2 9721 broad.mit.edu 37 10 46999606 46999607 + Frame_Shift_Ins INS - - GA TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr10:46999606_46999607insGA ENST00000374314.4 + 1 1681_1682 c.726_727insGA c.(724-729)agctggfs p.SW242fs GPRIN2_ENST00000374317.1_Frame_Shift_Ins_p.SW242fs O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 242 R -> G (in dbSNP:rs3127683). VR -> MREVG (in Ref. 1; BAA25440 and 3; AAH11672). breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GGGAGGTGAGGGCTGGTGGCTG 0.634 11 401 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 9 1204 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 7 271 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr11:35513670delC ENST00000378880.2 - 3 747 c.302delG c.(301-303)gtfs p.G101fs PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 ATCCAAGGTACCCCCCCATGA 0.517 11 1285 --- --- --- --- GANAB 23193 broad.mit.edu 37 11 62398507 62398512 + In_Frame_Del DEL AGACTA AGACTA - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr11:62398507_62398512delAGACTA ENST00000346178.4 - 11 1221_1226 c.1206_1211delTAGTCT c.(1204-1212)gcc>gc p.ASL402del GANAB_ENST00000540933.1_In_Frame_Del_p.ASL283del|GANAB_ENST00000356638.3_In_Frame_Del_p.ASL380del|GANAB_ENST00000534779.1_In_Frame_Del_p.ASL288del NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 380 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TGTACCTGTGAGACTAGCATATTGCC 0.495 78 566 --- --- --- --- TBC1D10C 374403 broad.mit.edu 37 11 67177148 67177149 + Frame_Shift_Ins INS - - G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr11:67177148_67177149insG ENST00000312390.5 + 10 1293_1294 c.1264_1265insG c.(1264-1266)ggcfs p.G422fs TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.G422fs|TBC1D10C_ENST00000526387.1_3'UTR NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 422 Interaction with calcineurin. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCTCCTGACTCGGGCCCGGGGC 0.698 7 97 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 8 245 --- --- --- --- C1QTNF5 114902 broad.mit.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr11:119210189_119210190insC ENST00000445041.2 - 15 3378_3379 c.583_584insG c.(583-585)catfs p.H195fs MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|C1QTNF5_ENST00000525657.1_5'UTR NM_001278431.1|NM_015645.3|NM_031433.2 NP_001265360.1|NP_056460.1|NP_113621.1 Q9BY79 MFRP_HUMAN C1q and tumor necrosis factor related protein 5 147 CUB 1. embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CCTCACCATGGCCCCCCCCGAG 0.589 10 544 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 7 959 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31270080 31270081 + RNA INS - - AAA rs112314315 TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr12:31270080_31270081insAAA ENST00000542490.1 - 0 52 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CGTTAAACTGGATCTCACTGGA 0.505 15 48 --- --- --- --- B4GALNT1 2583 broad.mit.edu 37 12 58025102 58025103 + Frame_Shift_Ins INS - - C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr12:58025102_58025103insC ENST00000341156.4 - 3 847_848 c.263_264insG c.(262-264)gctfs p.A88fs B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 88 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.G88fs*24(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GGAGGGGGAGGCCCCCCCCACT 0.589 8 563 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21961060 21961062 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr14:21961060_21961062delGCT ENST00000405508.1 + 8 1561_1563 c.1285_1287delGCT c.(1285-1287)del p.A434del TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del O94842 TOX4_HUMAN TOX high mobility group box family member 4 434 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCAGCAGCAGCTGCTGCTGCTG 0.581 10 867 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 8 532 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 13 6 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 7 114 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 8 794 --- --- --- --- MYO9A 4649 broad.mit.edu 37 15 72190580 72190580 + Frame_Shift_Del DEL A A - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr15:72190580delA ENST00000356056.5 - 25 4736 c.4264delT c.(4264-4266)atfs p.Y1422fs MYO9A_ENST00000424560.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000566885.1_Frame_Shift_Del_p.Y1042fs|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.Y1403fs|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000563542.1_5'UTR NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1422 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGGGGGATATAAAAAAAAGTA 0.398 7 320 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313074 5313076 + RNA DEL GGT GGT - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:5313074_5313076delGGT ENST00000569895.1 + 0 304 GCAGggtgacggtggtggtggtg 0.483 8 159 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)cfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 12 205 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 8 515 --- --- --- --- KNOP1 400506 broad.mit.edu 37 16 19722723 19722724 + Frame_Shift_Ins INS - - T TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr16:19722723_19722724insT ENST00000219837.7 - 3 1035_1036 c.957_958insA c.(955-960)aagcaafs p.Q320fs KNOP1_ENST00000568230.1_5'UTR|AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 p.G320fs*5(1)|p.K319N(1) TCCATGTTGCCTTTTTTTTCCA 0.564 7 395 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8409750 8409751 + Frame_Shift_Ins INS - - G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr17:8409750_8409751insG ENST00000360416.3 - 27 3409_3410 c.3271_3272insC c.(3271-3273)cgafs p.R1091fs MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1081fs|MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1076fs|MYH10_ENST00000269243.4_Frame_Shift_Ins_p.R1060fs NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1060 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CTCCCCGTCGAGTTTTCTTTTG 0.515 8 465 --- --- --- --- ZNF207 7756 broad.mit.edu 37 17 30677314 30677316 + In_Frame_Del DEL AAG AAG - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr17:30677314_30677316delAAG ENST00000394670.4 + 1 179_181 c.10_12delAAG c.(10-12)del p.K7del ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del|ZNF207_ENST00000321233.6_In_Frame_Del_p.K7del|ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 7 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TATGGGTCGCAAGAAGAAGAAGC 0.542 8 825 --- --- --- --- SLC16A5 9121 broad.mit.edu 37 17 73094196 73094197 + Frame_Shift_Ins INS - - G TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr17:73094196_73094197insG ENST00000450736.2 + 3 678_679 c.263_264insG c.(262-264)gctfs p.A88fs SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Frame_Shift_Ins_p.A88fs|SLC16A5_ENST00000329783.4_Frame_Shift_Ins_p.A88fs|SLC16A5_ENST00000538213.2_Frame_Shift_Ins_p.A128fs O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 88 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) CTGGGGGGCGTGCTGGCCAGCC 0.604 12 513 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_In_Frame_Del_p.G15del NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 7 231 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48584504 48584504 + Frame_Shift_Del DEL C C - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr18:48584504delC ENST00000342988.3 + 6 1215 c.677delC c.(676-678)gcfs p.A226fs SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000452201.2_3'UTR|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.A226fs NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 226 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GGTCAGCCTGCCAGTATACTG 0.438 36 170 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 12 1432 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 8 724 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 12 207 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146805 21146805 + RNA DEL G G - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr20:21146805delG ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA TTTTTTTTTTGTCCATGAGGC 0.383 7 76 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr20:58467047delT ENST00000357552.3 - 24 2587 c.2362delA c.(2362-2364)tgfs p.M788fs SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 788 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding p.M788fs*1(1) NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AAGCTCACCATTTTTTTTTGT 0.323 8 254 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del P57071 PRD15_HUMAN PR domain containing 15 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCTGTACATCTGCTGCTGCTGC 0.611 7 476 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 16 376 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47030561 47030563 + In_Frame_Del DEL GGA GGA - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chrX:47030561_47030563delGGA ENST00000377604.3 + 4 1078_1080 c.336_338delGGA c.(334-339)ggg>gg p.GE112del RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 112 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CCGAGCAAGGggaggaggaggag 0.660 7 49 --- --- --- --- SPANXN3 139067 broad.mit.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chrX:142605149delT ENST00000370503.2 - 1 154 c.71delA c.(70-72)atfs p.N24fs NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 24 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.453 7 493 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 8 646 --- --- --- --- RBMY2EP 0 broad.mit.edu 37 Y 23563322 23563323 + RNA DEL AC AC - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c536d586-b6ba-4e8d-9ada-9ec4e90a0197 dd10ada8-8304-481c-bf31-f471efa940a3 g.chrY:23563322_23563323delAC ENST00000444169.1 - 0 86 NR_001574.2 ATATGAAAATacacacacacac 0.302 7 72 --- --- --- ---