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 HECTD1 25831 broad.mit.edu 37 14 31576011 31576011 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:31576011C>T ENST00000399332.1 - 38 7555 c.7067G>A c.(7066-7068)aGa>aAa p.R2356K HECTD1_ENST00000553700.1_Missense_Mutation_p.R2356K NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2356 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity p.R2356K(1) breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AAATCTGGCTCTGTGTGGGTT 0.358000 11 71 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55405910 55405910 + Missense_Mutation SNP T T C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:55405910T>C ENST00000314612.2 + 1 77 c.77T>C c.(76-78)tTt>tCt p.F26S NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F26S(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 GTCCTCTGCTTTGTATTATTT 0.353000 98 239 0 0 1 0 0 PISD 23761 broad.mit.edu 37 22 32058162 32058162 + Silent SNP T T C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr22:32058162T>C ENST00000439502.2 - 1 256 c.33A>G c.(31-33)ggA>ggG p.G11G PISD_ENST00000336566.4_Silent_p.G11G Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 11 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity p.G11G(1) central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 Phosphatidylserine(DB00144) CGTGCAGTAATCCCAGACATC 0.652000 OREG0003531 type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 12 55 0 0 1 0 0 PRELP 5549 broad.mit.edu 37 1 203452939 203452939 + Silent SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:203452939C>T ENST00000343110.2 + 2 754 c.627C>T c.(625-627)gaC>gaT p.D209D NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 209 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent p.D209D(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) GGCTGAGCGACGGCGTCTTCA 0.597000 38 230 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2355779 2355779 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:2355779C>A ENST00000290974.2 - 2 400 c.61G>T c.(61-63)Gcc>Tcc p.A21S ZFYVE28_ENST00000515312.1_5'UTR|ZFYVE28_ENST00000515169.1_5'UTR|ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A21S|ZFYVE28_ENST00000503000.1_Missense_Mutation_p.A21S NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 21 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 TAGAACCGGGCAAGCAGCTGC 0.672000 3 10 0.115264 0.117845 1 1 0 BMPR2 659 broad.mit.edu 37 2 203421005 203421005 + Nonsense_Mutation SNP C C T rs137852748 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:203421005C>T ENST00000374580.4 + 12 3156 c.2617C>T c.(2617-2619)Cga>Tga p.R873* BMPR2_ENST00000374574.2_Intron NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 873 anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity p.R873*(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 TTTACTGAGACGAGAGCAACA 0.478000 44 219 0 0 1 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52864001 52864001 + RNA SNP A A G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr13:52864001A>G ENST00000451298.1 - 0 168 RP11-64P12.8_ENST00000606031.1_RNA GAAAAAATAAAGCAATAGCTA 0.313000 3 52 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26509395 26509395 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:26509395C>T ENST00000244513.6 + 7 1640 c.1574C>T c.(1573-1575)gCa>gTa p.A525V NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 525 extracellular region|integral to plasma membrane receptor activity p.A525V(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 AGCCAAGGGGCACCTTAAGGA 0.522000 46 143 0 0 1 0 0 OR10G3 26533 broad.mit.edu 37 14 22038847 22038847 + Missense_Mutation SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:22038847G>A ENST00000303532.1 - 1 28 c.29C>T c.(28-30)aCt>aTt p.T10I NM_001005465.1 NP_001005465.1 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, member 3 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) GATAAACGCAGTCAACAGTGT 0.423000 3 96 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155491017 155491017 + Silent SNP T T C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:155491017T>C ENST00000368346.3 - 2 933 c.294A>G c.(292-294)aaA>aaG p.K98K ASH1L_ENST00000392403.3_Silent_p.K98K|ASH1L_ENST00000548830.1_Silent_p.K98K Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 98 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.K98K(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TCTTTGGAGGTTTTTTAGTTC 0.373000 200 229 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16509021 16509021 + Missense_Mutation SNP A A C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:16509021A>C ENST00000354981.2 - 2 269 c.112T>G c.(112-114)Tta>Gta p.L38V KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.L38V|KIF16B_ENST00000355755.3_Missense_Mutation_p.L38V NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 38 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity p.L38V(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CTTGCCTTTAAGTTTGTGATT 0.408000 37 92 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17294420 17294420 + Silent SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:17294420G>A ENST00000261381.6 - 4 1089 c.1005C>T c.(1003-1005)caC>caT p.H335H NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 335 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.H335Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGGCACGGCCGTGGACCACCA 0.567000 4 463 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086069 92086069 + Missense_Mutation SNP C C G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:92086069C>G ENST00000298047.6 + 1 808 c.791C>G c.(790-792)cCa>cGa p.P264R FAT3_ENST00000409404.2_Missense_Mutation_p.P264R|FAT3_ENST00000541502.1_Missense_Mutation_p.P264R|FAT3_ENST00000525166.1_Missense_Mutation_p.P114R Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 264 Cadherin 2.|Cadherin 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAACATGCCCCAACAATCCAT 0.443000 TCGA Ovarian(4;0.039) 5 285 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22368771 22368771 + Missense_Mutation SNP C C G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr15:22368771C>G ENST00000332663.2 + 1 294 c.196C>G c.(196-198)Ctg>Gtg p.L66V RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GTTGGCTAATCTGGCCTTCCT 0.408000 5 710 0 0 1 0 0 PEX5 5830 broad.mit.edu 37 12 7360264 7360264 + Missense_Mutation SNP T T G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:7360264T>G ENST00000266563.5 + 10 1048 c.865T>G c.(865-867)Ttt>Gtt p.F289V PEX5_ENST00000412720.2_Missense_Mutation_p.F347V|PEX5_ENST00000266564.3_Missense_Mutation_p.F318V|PEX5_ENST00000434354.2_Missense_Mutation_p.F341V|PEX5_ENST00000420616.2_Missense_Mutation_p.F326V|PEX5_ENST00000455147.2_Missense_Mutation_p.F326V NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 326 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding p.F318V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 GGGGTACCAGTTTGAGGAGGA 0.557000 64 125 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30357718 30357718 + Missense_Mutation SNP T T G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:30357718T>G ENST00000327564.7 + 4 2009 c.1948T>G c.(1948-1950)Ttt>Gtt p.F650V LRRC37B_ENST00000341671.7_Missense_Mutation_p.F623V|LRRC37B_ENST00000543378.2_Missense_Mutation_p.F541V|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000584368.1_Intron Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 623 integral to membrane p.F623V(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) AAGACAAACATTTGAATCACT 0.254000 4 13 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117962899 117962899 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:117962899C>A ENST00000425217.1 - 14 1944 c.1890G>T c.(1888-1890)tgG>tgT p.W630C KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.W659C|KSR2_ENST00000302438.5_Missense_Mutation_p.W356C NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 659 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGGGATGTCCCACTCCTGAA 0.617000 4 122 0.014758 0.0154339 1 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 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 4 63 0 0 1 0 0 CYP8B1 1582 broad.mit.edu 37 3 42915969 42915969 + Missense_Mutation SNP A A T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:42915969A>T ENST00000316161.4 - 1 1664 c.1340T>A c.(1339-1341)cTc>cAc p.L447H ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L447H NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 447 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity p.L447H(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) CACCTCACTGAGTGCAAAGAA 0.542000 55 68 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 283 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 110 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227662870 227662870 + Silent SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:227662870C>T ENST00000305123.4 - 1 1605 c.585G>A c.(583-585)gtG>gtA p.V195V NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 195 IRS-type PTB. 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 p.V195V(1) 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) AGTTCAGCTTCACGAAGCTGA 0.567000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 23 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44858475 44858475 + Silent SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr15:44858475C>T ENST00000261866.7 - 37 6799 c.6783G>A c.(6781-6783)ctG>ctA p.L2261L SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Silent_p.L2148L NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 2261 cell death cytosol|integral to membrane|nucleus protein binding p.L2261L(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GCAGTTGTTTCAGCTGGTGCC 0.502000 17 50 0 0 1 0 0 GPM6A 2823 broad.mit.edu 37 4 176622807 176622807 + Missense_Mutation SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:176622807G>A ENST00000280187.7 - 3 194 c.149C>T c.(148-150)gCg>gTg p.A50V GPM6A_ENST00000515090.1_Missense_Mutation_p.A43V|GPM6A_ENST00000393658.2_Missense_Mutation_p.A50V|GPM6A_ENST00000506894.1_Missense_Mutation_p.A39V NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 50 cell surface|integral to membrane p.A50V(3) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) TCCAGAAAGCGCTTCATGACC 0.488000 68 267 0 0 1 0 0 RBM33 155435 broad.mit.edu 37 7 155473515 155473515 + Silent SNP A A T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:155473515A>T ENST00000401878.3 + 5 678 c.480A>T c.(478-480)atA>atT p.I160I RBM33_ENST00000392759.3_Silent_p.I160I|RBM33_ENST00000287912.3_Silent_p.I160I NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 160 Glu-rich. nucleotide binding|RNA binding p.I160I(3) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) AAGACCAAATAGAATATGTGG 0.403000 24 96 0 0 1 0 0 ZBTB49 166793 broad.mit.edu 37 4 4322782 4322782 + Silent SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:4322782G>A ENST00000337872.4 + 8 2158 c.2037G>A c.(2035-2037)aaG>aaA p.K679K ZBTB49_ENST00000538529.1_Silent_p.K162K|ZBTB49_ENST00000355834.3_Silent_p.K557K NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 679 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 AACTTGCCAAGCCCCAGATGC 0.567000 3 73 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29012465 29012465 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr13:29012465C>A ENST00000282397.4 - 4 657 c.406G>T c.(406-408)Gta>Tta p.V136L FLT1_ENST00000541932.1_Missense_Mutation_p.V136L|FLT1_ENST00000539099.1_Missense_Mutation_p.V136L NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 136 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TACATCTCTACGAAAGGTCTA 0.398000 3 92 0.115264 0.117845 1 1 0 OR4Q3 441669 broad.mit.edu 37 14 20215690 20215690 + Missense_Mutation SNP A A T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:20215690A>T ENST00000331723.1 + 1 104 c.104A>T c.(103-105)tAc>tTc p.Y35F NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGTTTTTTTACATTGCTATT 0.378000 6 548 0 0 1 0 0 TPP1 1200 broad.mit.edu 37 11 6636691 6636691 + Missense_Mutation SNP G G T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:6636691G>T ENST00000533371.1 - 9 1317 c.519C>A c.(517-519)ttC>ttA p.F173L TPP1_ENST00000299427.6_Missense_Mutation_p.F416L O14773 TPP1_HUMAN tripeptidyl peptidase I 416 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) AAGGCCGTGGGAACACATTGC 0.517000 4 71 2.56e-06 2.78349e-06 1 1 0 PBRM1 55193 broad.mit.edu 37 3 52651419 52651419 + Nonsense_Mutation SNP A A T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:52651419A>T ENST00000356770.4 - 13 1583 c.1581T>A c.(1579-1581)taT>taA p.Y527* PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Y574*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Y574*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.Y559* Q86U86 PB1_HUMAN polybromo 1 559 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.Y559*(2)|p.Y527*(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) AGATGATTTTATAATAATCAG 0.378000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 29 51 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109378555 109378555 + Splice_Site SNP A A T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:109378555A>T ENST00000283195.6 + 19 2728 c.e19-1 NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TTGTTTTTTTAGTTGCAACTA 0.333000 4 142 0 0 1 0 0 TAPBPL 55080 broad.mit.edu 37 12 6571287 6571287 + Missense_Mutation SNP G G A rs141838188 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:6571287G>A ENST00000266556.7 + 7 1544 c.1379G>A c.(1378-1380)cGc>cAc p.R460H TAPBPL_ENST00000545700.1_3'UTR NM_018009.4 NP_060479.3 Q9BX59 TPSNR_HUMAN TAP binding protein-like 460 antigen processing and presentation of endogenous peptide antigen via MHC class I endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane p.R460H(1) endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 CATGAAGACCGCACAGCGCGT 0.557000 3 26 0 0 1 0 0 OR2D2 120776 broad.mit.edu 37 11 6913440 6913440 + Missense_Mutation SNP C C T rs151328039 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:6913440C>T ENST00000299459.2 - 1 390 c.292G>A c.(292-294)Gca>Aca p.A98T NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGTCGAGCTGCGCAAAGTGTG 0.483000 4 308 0 0 1 0 0 MT1E 4493 broad.mit.edu 37 16 56660686 56660686 + Missense_Mutation SNP A A G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:56660686A>G ENST00000330439.6 + 2 391 c.337A>G c.(337-339)Agc>Ggc p.S113G MT1E_ENST00000306061.6_Intron|MT1E_ENST00000568293.1_Intron P04732 MT1E_HUMAN metallothionein 1E 0 cytoplasm cadmium ion binding|copper ion binding|zinc ion binding GACGAAAAAAAGCATCCTCTG 0.542000 6 12 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 99049685 99049685 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:99049685C>A ENST00000295268.3 - 3 370 c.281G>T c.(280-282)tGt>tTt p.C94F NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 p.C94F(1) TGACTTTCCACAAGAAGGAAT 0.348000 9 56 3.86212e-05 4.16622e-05 1 1 0 TPTE2P2 644623 broad.mit.edu 37 13 52864028 52864028 + RNA SNP C C T rs138483057 by1000genomes TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr13:52864028C>T ENST00000451298.1 - 0 141 RP11-64P12.8_ENST00000606031.1_RNA TAGAATGATACTCCAAAGGAA 0.313000 3 60 0 0 1 0 0 FAM50B 26240 broad.mit.edu 37 6 3850384 3850384 + Silent SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:3850384C>T ENST00000380274.1 + 1 765 c.339C>T c.(337-339)cgC>cgT p.R113R FAM50B_ENST00000380272.3_Silent_p.R113R Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 113 nucleus p.R113R(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) ggcGCGAGCGCAAGCGTAAGA 0.701000 3 9 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152323912 152323912 + Missense_Mutation SNP A A C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:152323912A>C ENST00000388718.5 - 3 6422 c.6350T>G c.(6349-6351)gTc>gGc p.V2117G FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2117 calcium ion binding|structural molecule activity p.V2117G(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGTGTGAGACCCCTGAGTG 0.532000 7 931 0 0 1 0 0 DTNA 1837 broad.mit.edu 37 18 32405233 32405233 + Missense_Mutation SNP A A T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr18:32405233A>T ENST00000283365.9 + 11 1355 c.1004A>T c.(1003-1005)gAt>gTt p.D335V DTNA_ENST00000597674.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000598774.1_Missense_Mutation_p.D335V|DTNA_ENST00000554864.3_Intron|DTNA_ENST00000598142.1_Missense_Mutation_p.D335V|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.D335V|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.D335V|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000444659.1_Missense_Mutation_p.D335V|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.D335V NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 335 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding p.D335V(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 GCCAAAAGTGATACTTGGTAA 0.348000 47 101 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100841499 100841499 + Missense_Mutation SNP C C G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:100841499C>G ENST00000223114.4 - 5 807 c.641G>C c.(640-642)gGc>gCc p.G214A MOGAT3_ENST00000379423.3_Missense_Mutation_p.G214A|MOGAT3_ENST00000440203.2_Missense_Mutation_p.G214A NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 214 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GCGCACGAAGCCTTTGCGCTT 0.647000 10 51 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44816791 44816791 + Silent SNP T T C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:44816791T>C ENST00000326047.4 + 3 257 c.108T>C c.(106-108)ccT>ccC p.P36P NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 36 Kinesin-motor. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity p.P36P(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TTCGTCCTCCTGCAGAAAGAT 0.438000 52 93 0 0 1 0 0 ADA 100 broad.mit.edu 37 20 43257753 43257753 + Silent SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:43257753G>A ENST00000372874.4 - 3 287 c.153C>T c.(151-153)ggC>ggT p.G51G ADA_ENST00000537820.1_Silent_p.G51G NM_000022.2 NP_000013.2 P00813 ADA_HUMAN adenosine deaminase 51 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) GCTTGTCCATGCCAATGACGT 0.587000 Adenosine Deaminase Deficiency 4 70 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8813220 8813220 + Missense_Mutation SNP A A G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr18:8813220A>G ENST00000359865.3 + 12 2990 c.2848A>G c.(2848-2850)Agg>Ggg p.R950G SOGA2_ENST00000517570.1_Missense_Mutation_p.R909G|SOGA2_ENST00000518815.1_Missense_Mutation_p.R303G|SOGA2_ENST00000400050.3_Missense_Mutation_p.R909G|SOGA2_ENST00000306329.11_Missense_Mutation_p.R1269G|SOGA2_ENST00000306285.7_Missense_Mutation_p.R303G NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1260 ATTCTTGTGGAGGATAGAGCA 0.567000 2 20 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32156550 32156550 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:32156550C>T ENST00000375050.4 - 2 515 c.245G>A c.(244-246)cGa>cAa p.R82Q NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 82 transcription factor binding p.R82Q(1) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 AGGCTTCATTCGGTGGCAGTT 0.537000 25 105 0 0 1 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99448880 99448880 + Silent SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:99448880G>A ENST00000397899.2 - 5 802 c.471C>T c.(469-471)gaC>gaT p.D157D KIAA1211L_ENST00000462314.1_5'UTR NM_207362.2 NP_997245.2 KIAA1211-like p.D157D(2) GCAGCCCGTCGTCCTCAGAGC 0.587000 10 55 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121929783 121929783 + Missense_Mutation SNP C C T rs145920249 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr9:121929783C>T ENST00000265922.3 - 8 2326 c.1865G>A c.(1864-1866)cGg>cAg p.R622Q DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 622 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TAGCCGAGTCCGACTACGTAG 0.532000 3 151 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72959394 72959394 + Nonsense_Mutation SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr8:72959394G>A ENST00000262209.4 - 16 2161 c.1954C>T c.(1954-1956)Cga>Tga p.R652* RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 652 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TAATAGTCTCGGCAGGACTTG 0.284000 3 87 0 0 1 0 0 BECN1 8678 broad.mit.edu 37 17 40970428 40970428 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:40970428C>A ENST00000361523.4 - 7 626 c.494G>T c.(493-495)tGt>tTt p.C165F BECN1_ENST00000590099.1_Missense_Mutation_p.C165F|BECN1_ENST00000438274.3_Missense_Mutation_p.C89F NM_003766.3 NP_003757.1 Q14457 BECN1_HUMAN beclin 1, autophagy related 165 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding p.C165F(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) GATCTCCAAACAGCGTCTGCC 0.502000 37 126 2.59497e-14 2.98749e-14 1 1 0 FASTKD1 79675 broad.mit.edu 37 2 170416921 170416921 + Missense_Mutation SNP A A G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:170416921A>G ENST00000453153.2 - 5 1293 c.947T>C c.(946-948)aTt>aCt p.I316T FASTKD1_ENST00000453929.2_Missense_Mutation_p.I316T NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 316 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity p.I316T(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 AGGTCCTGCAATGGGTCCCAA 0.358000 62 135 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169787307 169787307 + Silent SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:169787307C>T ENST00000263817.6 - 25 3403 c.3279G>A c.(3277-3279)tcG>tcA p.S1093S NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1093 ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism p.S1093S(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TCAGAACTTGCGAGTCAGGTC 0.458000 4 68 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308258 140308258 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:140308258C>T ENST00000253807.2 + 1 1781 c.1781C>T c.(1780-1782)gCc>gTc p.A594V PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A594V|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTCTAATGCCTGGCTTTCC 0.507000 4 154 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93761005 93761005 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:93761005C>A ENST00000334746.5 - 3 668 c.361G>T c.(361-363)Gct>Tct p.A121S BTBD7_ENST00000298896.3_Missense_Mutation_p.A121S|BTBD7_ENST00000555525.1_Missense_Mutation_p.A121S|BTBD7_ENST00000554565.1_Intron NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 121 p.A121S(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) TCTGGTCTAGCCAAACTGGCT 0.408000 8 44 2.61681e-11 2.96284e-11 1 1 0 CFI 3426 broad.mit.edu 37 4 110667432 110667432 + Missense_Mutation SNP A A G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:110667432A>G ENST00000394634.2 - 11 1582 c.1375T>C c.(1375-1377)Tac>Cac p.Y459H CFI_ENST00000394635.3_Missense_Mutation_p.Y467H|CFI_ENST00000512148.1_Missense_Mutation_p.Y452H NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 459 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TGGAATAGGTAAGGAGACCAG 0.413000 3 119 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42820894 42820894 + Splice_Site SNP T T C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:42820894T>C ENST00000598766.1 + 10 878 c.e10+2 TMEM145_ENST00000301204.3_Splice_Site Q8NBT3 TM145_HUMAN transmembrane protein 145 integral to membrane p.?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) GGTGACACGGTGCCCGGGCAG 0.682000 66 139 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43513701 43513701 + Silent SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:43513701C>A ENST00000039989.4 + 23 3296 c.3282C>A c.(3280-3282)gtC>gtA p.V1094V NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 1094 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TGGGCAATGTCTACGTGGCAA 0.483000 5 430 0.248553 0.25038 1 1 0 ABLIM1 3983 broad.mit.edu 37 10 116201492 116201492 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr10:116201492C>A ENST00000533213.2 - 18 2108 c.1807G>T c.(1807-1809)Ggg>Tgg p.G603W ABLIM1_ENST00000277895.5_Missense_Mutation_p.G663W|ABLIM1_ENST00000369266.3_Missense_Mutation_p.G340W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.G286W|ABLIM1_ENST00000392952.3_Missense_Mutation_p.G340W|ABLIM1_ENST00000369252.4_Missense_Mutation_p.G603W O14639 ABLM1_HUMAN actin binding LIM protein 1 663 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding p.G340W(1)|p.G663W(1)|p.G603W(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CGGTGAAGCCCATTTCTTCCA 0.428000 18 104 8.34094e-07 9.14167e-07 1 1 0 TTC17 55761 broad.mit.edu 37 11 43429097 43429097 + Silent SNP A A G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:43429097A>G ENST00000039989.4 + 15 2048 c.2034A>G c.(2032-2034)ctA>ctG p.L678L TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.L678L NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 678 binding p.L678L(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CTAAGCTGCTACTTCAAGCTT 0.388000 33 67 0 0 1 0 0 TBX3 6926 broad.mit.edu 37 12 115117393 115117393 + Silent SNP A A G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:115117393A>G ENST00000349155.2 - 3 1684 c.721T>C c.(721-723)Ttg>Ctg p.L241L TBX3_ENST00000257566.3_Silent_p.L261L NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 261 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding p.L261L(1) breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) GGGAGTTTCAAGATGTCATTG 0.438000 60 368 0 0 1 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18636763 18636763 + Missense_Mutation SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:18636763G>A ENST00000336349.5 - 3 1293 c.1058C>T c.(1057-1059)cCt>cTt p.P353L NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 353 Ser-rich. p.P353L(1) breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 CATGGGCCCAGGCCTGGAATG 0.557000 73 164 0 0 1 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17067943 17067943 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr8:17067943C>T ENST00000262096.8 + 10 1599 c.904C>T c.(904-906)Cct>Tct p.P302S NM_016353.4 NP_057437.1 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 302 integral to membrane acyltransferase activity|zinc ion binding p.P302S(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) TAACCAGGATCCTGAACAAGC 0.343000 9 52 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 69255287 69255287 + Missense_Mutation SNP G G T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chrX:69255287G>T ENST00000374552.4 + 8 1246 c.1004G>T c.(1003-1005)aGc>aTc p.S335I EDA_ENST00000524573.1_Missense_Mutation_p.S330I|EDA_ENST00000374553.2_Missense_Mutation_p.S333I NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 335 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding p.S335I(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 TGCACACGCAGCATCGAGACG 0.547000 10 9 0.000673444 0.000709706 1 1 0 ZNF18 7566 broad.mit.edu 37 17 11895959 11895959 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:11895959C>T ENST00000322748.3 - 4 792 c.188G>A c.(187-189)cGg>cAg p.R63Q ZNF18_ENST00000454073.3_Missense_Mutation_p.R63Q|ZNF18_ENST00000580613.1_Missense_Mutation_p.R12Q|ZNF18_ENST00000580306.1_Missense_Mutation_p.R63Q NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 63 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) ACAGAGCTTCCGAAGTTGCTT 0.542000 3 98 0 0 1 0 0 FAF2 23197 broad.mit.edu 37 5 175923576 175923576 + Missense_Mutation SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:175923576G>A ENST00000261942.6 + 8 804 c.751G>A c.(751-753)Ggc>Agc p.G251S NM_014613.2 NP_055428.1 Q96CS3 FAF2_HUMAN Fas associated factor family member 2 251 response to unfolded protein endoplasmic reticulum|lipid particle protein binding breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 ACGGCTAGAAGGCCTCATTCA 0.463000 6 272 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 287 0 0 1 0 0 TUBA1A 7846 broad.mit.edu 37 12 49580152 49580152 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:49580152C>T ENST00000301071.7 - 3 660 c.316G>A c.(316-318)Ggg>Agg p.G106R TUBA1A_ENST00000546918.1_Silent_p.E156E|TUBA1A_ENST00000295766.5_Missense_Mutation_p.G106R|TUBA1A_ENST00000550767.1_Missense_Mutation_p.G71R NM_001270400.1|NM_006009.3 NP_001257329.1|NP_006000.2 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 106 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 GTGTAGTGCCCTCGGGCATAG 0.463000 4 358 0 0 1 0 0 RNF180 285671 broad.mit.edu 37 5 63509694 63509694 + Missense_Mutation SNP G G T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:63509694G>T ENST00000389100.4 + 4 613 c.541G>T c.(541-543)Gca>Tca p.A181S RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.A181S NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 181 integral to membrane|nuclear envelope zinc ion binding p.A181S(2) breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) ATTAACAGAAGCACTCTGCCT 0.443000 29 138 9.80776e-20 1.1387e-19 1 1 0 NYX 60506 broad.mit.edu 37 X 41307152 41307152 + Nonsense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chrX:41307152C>T ENST00000342595.2 + 1 466 c.10C>T c.(10-12)Cga>Tga p.R4* NYX_ENST00000378220.1_Nonsense_Mutation_p.R4* NM_022567.2 NP_072089.1 Q9GZU5 NYX_HUMAN nyctalopin 4 response to stimulus|visual perception intracellular|proteinaceous extracellular matrix p.R4*(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1) 17 GATGAAAGGCCGAGGGATGTT 0.617000 11 5 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905190 144905190 + Missense_Mutation SNP A A G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chrX:144905190A>G ENST00000370490.1 + 1 5502 c.1247A>G c.(1246-1248)gAa>gGa p.E416G SLITRK2_ENST00000428560.2_Missense_Mutation_p.E416G|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E416G|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E416G|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E416G Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 416 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) GTCATTCAGGAAGGTGCCTTT 0.413000 5 95 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 42022431 42022431 + Splice_Site SNP A A T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:42022431A>T ENST00000264451.6 + 4 514 c.e4-1 NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TTTTTTGTTTAGTTAAAGCAG 0.348000 5 137 0 0 1 0 0 MS4A7 58475 broad.mit.edu 37 11 60150630 60150630 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:60150630C>A ENST00000358246.1 + 2 209 c.16C>A c.(16-18)Caa>Aaa p.Q6K MS4A7_ENST00000300184.3_Missense_Mutation_p.Q6K|MS4A7_ENST00000534016.1_Missense_Mutation_p.Q6K|MS4A7_ENST00000530234.2_Missense_Mutation_p.Q6K|MS4A14_ENST00000531787.1_Intron NM_206938.1|NM_206940.1 NP_996821.1|NP_996823.1 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 7 6 integral to membrane receptor activity p.Q6K(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1) 20 ATTACAATCCCAAACCATGGG 0.443000 80 193 8.06533e-24 9.44402e-24 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181453021 181453021 + Silent SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:181453021G>A ENST00000526775.1 + 1 306 c.141G>A c.(139-141)gcG>gcA p.A47A CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Silent_p.A47A|CACNA1E_ENST00000367570.1_Silent_p.A47A|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000360108.3_Silent_p.A47A NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 47 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CACAGAGGGCGCGGACTATGG 0.592000 4 156 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77835374 77835374 + Missense_Mutation SNP A A T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr13:77835374A>T ENST00000407578.2 - 12 2050 c.1784T>A c.(1783-1785)cTt>cAt p.L595H MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L557H|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L557H NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 557 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.L557H(2)|p.L595H(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGCAACTAAAAGGGCGTGAGA 0.403000 30 127 0 0 1 0 0 CPNE7 27132 broad.mit.edu 37 16 89657453 89657453 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:89657453C>A ENST00000268720.5 + 14 1510 c.1380C>A c.(1378-1380)gaC>gaA p.D460E CPNE7_ENST00000319518.8_Missense_Mutation_p.D385E NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 460 VWFA. lipid metabolic process transporter activity p.D460E(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) ACCCTGAGGACGATGAGTGTG 0.637000 3 10 0.115264 0.117845 1 1 0 JAG1 182 broad.mit.edu 37 20 10620283 10620283 + Missense_Mutation SNP G G T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:10620283G>T ENST00000254958.5 - 26 4035 c.3520C>A c.(3520-3522)Ccg>Acg p.P1174T JAG1_ENST00000423891.2_Missense_Mutation_p.P1015T NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 1174 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 GTGTACGCCGGCTGCTTGGCA 0.493000 Alagille Syndrome 4 176 0.184627 0.187363 1 1 0 NETO1 81832 broad.mit.edu 37 18 70417575 70417575 + Silent SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr18:70417575C>T ENST00000327305.6 - 9 1920 c.1263G>A c.(1261-1263)cgG>cgA p.R421R NETO1_ENST00000299430.2_Silent_p.R420R|NETO1_ENST00000583169.1_Silent_p.R421R NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 421 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity p.R421R(1) NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AAGATGACCTCCGCAGTTTAT 0.463000 41 44 0 0 1 0 0 NREP 9315 broad.mit.edu 37 5 111091557 111091557 + Translation_Start_Site SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:111091557C>T ENST00000447165.2 - 0 391 NREP_ENST00000453526.2_Intron|NREP_ENST00000446294.2_Intron|NREP_ENST00000509979.1_Intron|NREP_ENST00000419114.2_Intron|NREP_ENST00000257435.7_Intron|NREP_ENST00000455559.2_Intron|NREP_ENST00000508870.1_De_novo_Start_OutOfFrame|NREP_ENST00000379671.3_Intron|NREP_ENST00000509427.1_Intron|NREP_ENST00000507742.1_Intron|NREP_ENST00000450761.2_Intron|NREP_ENST00000509025.1_Intron|NREP_ENST00000515855.1_Intron|NREP_ENST00000395634.3_Intron NM_001142483.1 NP_001135955.1 Q16612 NP311_HUMAN neuronal regeneration related protein cytoplasm ACAGTAGACACATCGCCTCAC 0.393000 3 48 0 0 1 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107170012 107170012 + RNA SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:107170012G>A ENST00000390633.2 - 0 330 ATTTGTCCGCGGTAATCGTGA 0.547000 4 462 0 0 1 0 0 ANO6 196527 broad.mit.edu 37 12 45810629 45810629 + Missense_Mutation SNP A A G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:45810629A>G ENST00000320560.8 + 17 2361 c.2159A>G c.(2158-2160)gAc>gGc p.D720G ANO6_ENST00000425752.2_Missense_Mutation_p.D720G|ANO6_ENST00000423947.3_Missense_Mutation_p.D741G|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.D720G|ANO6_ENST00000441606.2_Missense_Mutation_p.D702G NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 720 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity p.D720G(2) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 AAAGCCCAAGACATTGGAGCA 0.478000 51 96 0 0 1 0 0 RORA 6095 broad.mit.edu 37 15 60789779 60789779 + Nonsense_Mutation SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr15:60789779G>A ENST00000335670.6 - 11 1547 c.1447C>T c.(1447-1449)Cga>Tga p.R483* RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Nonsense_Mutation_p.R428*|RORA_ENST00000309157.4_Nonsense_Mutation_p.R508*|RORA_ENST00000261523.5_Nonsense_Mutation_p.R516* NM_134261.2 NP_599023.1 P35398 RORA_HUMAN RAR-related orphan receptor A 516 Ligand-binding. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.R483*(1)|p.R516*(1)|p.R508*(1) endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 TCTGTATGTCGTCCACATAAG 0.398000 12 92 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42356025 42356025 + Missense_Mutation SNP T T G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:42356025T>G ENST00000554171.1 + 5 2629 c.197T>G c.(196-198)aTt>aGt p.I66S LRFN5_ENST00000298119.4_Missense_Mutation_p.I66S|LRFN5_ENST00000554120.1_Missense_Mutation_p.I66S Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 66 integral to membrane p.I66S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GTTACAAATATTAAAAGGAAA 0.403000 HNSCC(30;0.082) 5 32 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233386509 233386509 + Missense_Mutation SNP T T C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:233386509T>C ENST00000258229.8 - 8 2432 c.2198A>G c.(2197-2199)aAt>aGt p.N733S PCNXL2_ENST00000430153.1_Missense_Mutation_p.N32S NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 733 integral to membrane p.N733S(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ACAGTCATTATTTGATGGTAG 0.413000 7 16 0 0 1 0 0 SAMD14 201191 broad.mit.edu 37 17 48195543 48195543 + Silent SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:48195543C>T ENST00000330175.4 - 3 509 c.192G>A c.(190-192)tcG>tcA p.S64S SAMD14_ENST00000503131.1_Silent_p.S64S|SAMD14_ENST00000503734.1_5'UTR NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 64 p.S64S(1) breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 CGGGCCCATCCGAGCCTTCAC 0.637000 27 66 0 0 1 0 0 WDR35 57539 broad.mit.edu 37 2 20162080 20162080 + Silent SNP G G A rs142103808 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:20162080G>A ENST00000345530.3 - 11 1318 c.1203C>T c.(1201-1203)aaC>aaT p.N401N WDR35_ENST00000281405.4_Intron|WDR35_ENST00000416055.2_Intron NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 401 p.N401N(1) breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCCATCTCGTTCTCCTCCT 0.333000 26 107 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25272913 25272913 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr13:25272913C>T ENST00000218548.6 + 12 1981 c.1648C>T c.(1648-1650)Cca>Tca p.P550S ATP12A_ENST00000381946.3_Missense_Mutation_p.P544S NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 544 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.P544S(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CGAGGAGCACCCACTGGACAA 0.637000 25 109 0 0 1 0 0 METTL5 29081 broad.mit.edu 37 2 170668861 170668861 + Missense_Mutation SNP T T C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:170668861T>C ENST00000410097.1 - 7 832 c.697A>G c.(697-699)Aga>Gga p.R233G METTL5_ENST00000260953.5_Intron|METTL5_ENST00000409965.1_Intron|METTL5_ENST00000409837.1_Intron|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000308099.3_Intron|METTL5_ENST00000392640.2_Intron Q9NRN9 METL5_HUMAN methyltransferase like 5 0 methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1) 10 agcgattctcttgcctcagcc 0.517000 3 60 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520557 33520557 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:33520557C>T ENST00000297307.5 - 1 855 c.770G>A c.(769-771)gGg>gAg p.G257E NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 257 integral to membrane p.G257E(1) CCCCACTGCCCCCACACAACT 0.627000 48 80 0 0 1 0 0 SKA1 220134 broad.mit.edu 37 18 47906545 47906545 + Silent SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr18:47906545C>A ENST00000285116.3 + 3 349 c.138C>A c.(136-138)atC>atA p.I46I SKA1_ENST00000398452.2_Silent_p.I46I|SKA1_ENST00000488454.1_Intron|SKA1_ENST00000417656.2_Silent_p.I46I NM_001039535.2|NM_145060.3 NP_001034624.1|NP_659497.1 Q96BD8 SKA1_HUMAN spindle and kinetochore associated complex subunit 1 46 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding p.I46I(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1) 13 GAGATGAGATCATTGTAATAA 0.294000 37 53 6.70999e-13 7.66057e-13 1 1 0 DNAJC18 202052 broad.mit.edu 37 5 138761998 138761998 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:138761998C>A ENST00000302060.5 - 4 502 c.422G>T c.(421-423)cGc>cTc p.R141L NM_152686.3 NP_689899.1 Q9H819 DJC18_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 18 141 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TTCATCATAGCGAAGTCTCTT 0.453000 5 260 1 1 1 1 0 TNRC18 84629 broad.mit.edu 37 7 5391579 5391579 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:5391579C>A ENST00000399537.4 - 17 5689 c.5341G>T c.(5341-5343)Ggc>Tgc p.G1781C TNRC18_ENST00000430969.1_Missense_Mutation_p.G1781C O15417 TNC18_HUMAN trinucleotide repeat containing 18 1781 DNA binding p.R1780_G1781>SC(2)|p.G1781C(2)|p.G836C(1)|p.R835_G836>SC(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCCGCCAGGCCCCTCTTGGTC 0.647000 22 57 1.9806e-07 2.18824e-07 1 1 0 PCDHGA11 56105 broad.mit.edu 37 5 140802703 140802703 + Missense_Mutation SNP G G C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:140802703G>C ENST00000398587.2 + 1 1942 c.1909G>C c.(1909-1911)Gac>Cac p.D637H PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 p.D637H(1) breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGACAGAGACGCGCTCAA 0.697000 7 33 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538014 27538014 + RNA SNP G G T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr10:27538014G>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA TTCTAGTTCAGTAGGTGGACC 0.502000 56 109 4.17463e-26 4.93038e-26 1 1 0 FUT6 2528 broad.mit.edu 37 19 5832203 5832203 + Missense_Mutation SNP G G A rs111589452 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:5832203G>A ENST00000318336.4 - 3 1570 c.376C>T c.(376-378)Cgg>Tgg p.R126W FUT6_ENST00000286955.5_Missense_Mutation_p.R126W|FUT6_ENST00000527106.1_Missense_Mutation_p.R126W|FUT6_ENST00000592563.1_Missense_Mutation_p.R126W|FUT6_ENST00000524754.1_Missense_Mutation_p.R126W NM_000150.2 NP_000141.1 P51993 FUT6_HUMAN fucosyltransferase 6 (alpha (1,3) fucosyltransferase) 126 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity p.R126W(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(2) 6 TGCCCCTGCCGCCTCGGGGAG 0.617000 4 41 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128621065 128621065 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chrX:128621065C>A ENST00000371122.4 - 17 2276 c.2147G>T c.(2146-2148)aGa>aTa p.R716I SMARCA1_ENST00000371123.1_Missense_Mutation_p.R704I|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R704I NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 716 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TCTAAAATTTCTTAGAGAAGA 0.323000 4 52 0.000602214 0.000639561 1 1 0 PLA2G7 7941 broad.mit.edu 37 6 46684241 46684241 + Missense_Mutation SNP G G C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:46684241G>C ENST00000274793.7 - 4 452 c.256C>G c.(256-258)Cca>Gca p.P86A PLA2G7_ENST00000538237.1_Missense_Mutation_p.P41A|PLA2G7_ENST00000537365.1_Missense_Mutation_p.P86A|PLA2G7_ENST00000541026.1_Intron NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 86 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding p.P86A(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TCTTGGGATGGATAATATAAA 0.368000 98 162 0 0 1 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73316366 73316366 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:73316366C>T ENST00000258098.6 - 2 749 c.509G>A c.(508-510)cGc>cAc p.R170H RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 170 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CAGGTTGTTGCGCGTGAACTG 0.532000 5 514 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62241747 62241747 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr15:62241747C>T ENST00000261517.5 - 42 4727 c.4654G>A c.(4654-4656)Gat>Aat p.D1552N VPS13C_ENST00000395896.4_Missense_Mutation_p.D1552N|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1509N|VPS13C_ENST00000249837.3_Missense_Mutation_p.D1509N NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1552 protein localization p.D1552N(2) 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 GATAAAAAATCCATGAAGGAA 0.408000 42 87 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42251562 42251562 + Missense_Mutation SNP A A G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:42251562A>G ENST00000341421.3 + 13 2067 c.1874A>G c.(1873-1875)gAg>gGg p.E625G TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron NM_001265608.1|NM_014965.4 NP_001252537.1|NP_055780.2 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 0 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus p.E625G(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 GAGATGCAGGAGCCGCCAGCG 0.632000 4 16 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79031741 79031741 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:79031741C>T ENST00000446378.2 + 2 7184 c.7153C>T c.(7153-7155)Cca>Tca p.P2385S NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2385 perinuclear region of cytoplasm p.P2385S(2) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGATAAGGTGCCACAACAGCC 0.353000 61 144 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 25098952 25098952 + Splice_Site SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:25098952G>A ENST00000533227.1 + 11 965 c.678_splice c.e11+1 p.Q226_splice LUZP2_ENST00000336930.6_Splice_Site_p.Q312_splice NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 312 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 CTATCCCACAGGTATGTGTTT 0.313000 7 297 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 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 4 58 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37335385 37335385 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:37335385C>T ENST00000373091.3 - 5 766 c.750G>A c.(748-750)atG>atA p.M250I GRIK3_ENST00000373093.4_Missense_Mutation_p.M250I NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 250 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity p.M250I(1) breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) ACTCAGTCATCATGCCCATGG 0.557000 27 131 0 0 1 0 0 SPAG16 79582 broad.mit.edu 37 2 214239769 214239769 + Missense_Mutation SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:214239769G>A ENST00000331683.5 + 9 963 c.868G>A c.(868-870)Ggt>Agt p.G290S SPAG16_ENST00000374309.3_Missense_Mutation_p.G196S|SPAG16_ENST00000447990.1_Missense_Mutation_p.G290S|SPAG16_ENST00000272898.7_Missense_Mutation_p.G290S NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 290 cilium assembly cilium axoneme|flagellar axoneme p.G290S(1) endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TGCACCAGAAGGTCCTACTCA 0.318000 26 94 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432337 140432337 + Missense_Mutation SNP G G A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:140432337G>A ENST00000306549.3 + 1 1359 c.1282G>A c.(1282-1284)Gga>Aga p.G428R NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 428 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATGGATACTGGACCACCTAG 0.443000 5 157 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196720569 196720569 + Nonsense_Mutation SNP A A T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:196720569A>T ENST00000312428.6 - 45 8661 c.8561T>A c.(8560-8562)tTa>tAa p.L2854* NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2854 Stalk (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 TTGTTTATTTAATTCAAGTGT 0.418000 7 751 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5391580 5391580 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:5391580C>A ENST00000399537.4 - 17 5688 c.5340G>T c.(5338-5340)agG>agT p.R1780S TNRC18_ENST00000430969.1_Missense_Mutation_p.R1780S O15417 TNC18_HUMAN trinucleotide repeat containing 18 1780 DNA binding p.R1780_G1781>SC(2)|p.R1780S(2)|p.R835S(1)|p.R835_G836>SC(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCGCCAGGCCCCTCTTGGTCA 0.647000 22 58 1.9806e-07 2.18824e-07 1 1 0 PNPLA6 10908 broad.mit.edu 37 19 7605595 7605595 + Splice_Site SNP C C G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:7605595C>G ENST00000221249.6 + 9 1108 c.678_splice c.e9+1 p.T226_splice PNPLA6_ENST00000414982.3_Splice_Site_p.T274_splice|PNPLA6_ENST00000545201.2_Splice_Site_p.T226_splice|PNPLA6_ENST00000450331.3_Splice_Site_p.T226_splice|PNPLA6_ENST00000600737.1_Splice_Site_p.T265_splice NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 265 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity p.T226S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 GATGTCATCACCGTGAGTGAC 0.577000 25 60 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129799907 129799907 + Silent SNP T T C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:129799907T>C ENST00000421865.2 + 54 7570 c.7521T>C c.(7519-7521)aaT>aaC p.N2507N NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2507 Laminin G-like 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.N2507N(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTCCGTACAATATACTCAGTA 0.363000 44 211 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16956761 16956761 + RNA SNP C C G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:16956761C>G ENST00000412962.1 - 0 294 CCTGGACCTGCCCTGGGGCAG 0.647000 2 6 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162340 90162340 + RNA SNP C C T rs138169571 by1000genomes TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:90162340C>T ENST00000564451.1 + 0 1693 TUBB8P7_ENST00000567960.1_RNA p.R358W(1) CATCCCACTCCGGGGGCTAAA 0.478000 5 125 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 32996166 32996166 + Missense_Mutation SNP T T C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:32996166T>C ENST00000070846.6 - 6 1484 c.1460A>G c.(1459-1461)cAa>cGa p.Q487R PKP2_ENST00000340811.4_Intron NM_004572.3 NP_004563.2 Q99959 PKP2_HUMAN plakophilin 2 487 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ccgcccgccttggcctcccaa 0.532000 3 58 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29573438 29573438 + Missense_Mutation SNP G G T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:29573438G>T ENST00000377034.4 - 20 2682 c.2347C>A c.(2347-2349)Ctg>Atg p.L783M GABBR1_ENST00000377012.4_Missense_Mutation_p.L666M|GABBR1_ENST00000377016.4_Missense_Mutation_p.L721M|GABBR1_ENST00000355973.3_Missense_Mutation_p.L666M|GABBR1_ENST00000376977.3_3'UTR NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 783 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.L783M(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) AAGATTCCCAGCAGCAGCAGC 0.512000 52 162 3.31993e-32 3.98974e-32 1 1 0 TRPC4 7223 broad.mit.edu 37 13 38320157 38320157 + Silent SNP G G T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr13:38320157G>T ENST00000379705.3 - 3 1671 c.814C>A c.(814-816)Cga>Aga p.R272R TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000447043.1_Silent_p.R272R|TRPC4_ENST00000426868.2_Silent_p.R272R|TRPC4_ENST00000379681.3_Silent_p.R272R|TRPC4_ENST00000355779.2_Silent_p.R272R|TRPC4_ENST00000379673.2_Silent_p.R272R|TRPC4_ENST00000358477.2_Silent_p.R272R Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 272 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.R272*(2)|p.R272R(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTGTCATCTCGGTAATTAAGA 0.418000 63 270 2.18419e-29 2.60204e-29 1 1 0 PGBD4 161779 broad.mit.edu 37 15 34395952 34395952 + Missense_Mutation SNP T T A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr15:34395952T>A ENST00000397766.2 + 1 1679 c.1220T>A c.(1219-1221)gTa>gAa p.V407E NM_152595.4 NP_689808.2 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 407 breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) GTGATTGAAGTAAACAATAGA 0.413000 4 156 0 0 1 0 0 FAM120AOS 158293 broad.mit.edu 37 9 96209937 96209937 + Missense_Mutation SNP T T G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr9:96209937T>G ENST00000375412.5 - 3 1609 c.727A>C c.(727-729)Acc>Ccc p.T243P FAM120AOS_ENST00000423591.1_Missense_Mutation_p.T61P|FAM120AOS_ENST00000479094.1_5'UTR NM_198841.2 NP_942138.2 Q5T036 F120S_HUMAN family with sequence similarity 120A opposite strand 243 p.T243P(1) kidney(1)|large_intestine(1)|lung(3)|skin(1) 6 GGTTTTGTGGTTTTCTTTGAG 0.333000 23 59 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604432 140604432 + Missense_Mutation SNP C C A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:140604432C>A ENST00000239449.4 + 1 1355 c.1355C>A c.(1354-1356)aCc>aAc p.T452N PCDHB14_ENST00000515856.2_Missense_Mutation_p.T299N NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 452 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCACCTTCACCCAAACCTCC 0.592000 22 201 1.9806e-07 2.18824e-07 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11650990 11650990 + Missense_Mutation SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:11650990C>T ENST00000262442.3 + 32 6585 c.6517C>T c.(6517-6519)Cgg>Tgg p.R2173W DNAH9_ENST00000454412.2_Missense_Mutation_p.R2173W NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2173 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R2173W(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GATCATGAAACGGCGCCCCGT 0.542000 13 95 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48607732 48607732 + Silent SNP G G A rs142651194 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:48607732G>A ENST00000328333.8 - 97 7523 c.7416C>T c.(7414-7416)ggC>ggT p.G2472G COL7A1_ENST00000454817.1_Silent_p.G2440G NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2472 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.G2472G(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCCCACGCTCGCCTCGGGGCC 0.617000 11 47 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322030 55322030 + Missense_Mutation SNP T T C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:55322030T>C ENST00000314644.2 + 1 248 c.248T>C c.(247-249)tTt>tCt p.F83S NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTTGTTGTATTTTTGTTTGTC 0.403000 HNSCC(20;0.049) 4 586 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327386 57327386 + Silent SNP C C T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:57327386C>T ENST00000326441.9 - 10 2787 c.2424G>A c.(2422-2424)caG>caA p.Q808Q ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.Q682Q|PEG3_ENST00000598410.1_Silent_p.Q684Q|PEG3_ENST00000423103.2_Silent_p.Q808Q|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 808 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CATCGAAGCTCTGAATGGTAG 0.468000 9 437 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100182040 100182040 + Missense_Mutation SNP A A G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:100182040A>G ENST00000317233.4 - 19 3263 c.3028T>C c.(3028-3030)Tcg>Ccg p.S1010P AFF3_ENST00000409236.1_Missense_Mutation_p.S1010P|AFF3_ENST00000356421.2_Missense_Mutation_p.S1035P|AFF3_ENST00000409579.1_Missense_Mutation_p.S1035P NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 1010 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TCGATAAACGACAATGCTGCT 0.398000 3 237 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685938 100685938 + Missense_Mutation SNP G G T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:100685938G>T ENST00000306151.4 + 3 11305 c.11241G>T c.(11239-11241)atG>atT p.M3747I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3747 Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.M3747I(2) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTGTGTCAATGCCCATGGAAA 0.473000 89 89 6.64208e-72 8.05279e-72 1 1 0 VPS13D 55187 broad.mit.edu 37 1 12422832 12422833 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:12422832_12422833insC ENST00000358136.3 + 51 10328_10329 c.10198_10199insC c.(10198-10200)cccfs p.P3400fs VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3399 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGTCATCTTTGCCCCCCGTTAC 0.426 10 533 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16259479 16259480 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:16259479_16259480insC ENST00000375759.3 + 11 6948_6949 c.6744_6745insC c.(6742-6747)caccccfs p.HP2248fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2248 Interaction with MSX2 (By similarity).|RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding p.A2251fs*102(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CAGATCTGCAACCCCCCGCAGG 0.554 7 353 --- --- --- --- FBXO42 54455 broad.mit.edu 37 1 16577865 16577866 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:16577865_16577866insG ENST00000375592.3 - 10 1669_1670 c.1453_1454insC c.(1453-1455)acgfs p.T485fs NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 485 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TGATCCTCGTCGGGGGGCCAAA 0.485 7 97 --- --- --- --- LUZP1 7798 broad.mit.edu 37 1 23417944 23417945 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:23417944_23417945insG ENST00000302291.4 - 4 3611_3612 c.2810_2811insC c.(2809-2811)cacfs p.H937fs LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs Q86V48 LUZP1_HUMAN leucine zipper protein 1 937 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) CTATTCGAGTTGGGGGGTCTTC 0.495 9 510 --- --- --- --- LDLRAP1 26119 broad.mit.edu 37 1 25889626 25889627 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:25889626_25889627insC ENST00000374338.4 + 6 717_718 c.598_599insC c.(598-600)cccfs p.P200fs LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 200 amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) CCAAGACTGCACCCCCTCCTTG 0.634 7 99 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 8 505 --- --- --- --- PUM1 9698 broad.mit.edu 37 1 31406073 31406074 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:31406073_31406074insG ENST00000373747.3 - 22 3653_3654 c.3554_3555insC c.(3553-3555)caafs p.Q1185fs PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 1182 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TGATACCATTAGGGGGGCCACA 0.525 8 433 --- --- --- --- IQCC 55721 broad.mit.edu 37 1 32673442 32673443 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:32673442_32673443insG ENST00000537469.1 + 5 1447_1448 c.1400_1401insG c.(1399-1401)tggfs p.W467fs IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 387 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GATGGTACCTTGGGGGGGCCAG 0.550 11 131 --- --- --- --- KIAA1522 57648 broad.mit.edu 37 1 33233494 33233495 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:33233494_33233495insC ENST00000401073.2 + 2 412_413 c.342_343insC c.(340-345)cgccccfs p.RP114fs KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 55 S -> P (in dbSNP:rs3737994). breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCAGTGGGCGACCCCCCCACCT 0.614 11 191 --- --- --- --- ZMYND12 84217 broad.mit.edu 37 1 42898878 42898879 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:42898878_42898879insG ENST00000372565.3 - 7 1179_1180 c.910_911insC c.(910-912)aaafs p.K304fs ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 304 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATGGTTTTTTGGGGGGCTTTG 0.411 9 489 --- --- --- --- LRRC41 10489 broad.mit.edu 37 1 46751494 46751495 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:46751494_46751495insG ENST00000343304.6 - 4 1319_1320 c.1034_1035insC c.(1033-1035)cgcfs p.R345fs LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 345 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) GGGAGGTGGCTGGGGGGTGCAG 0.619 7 237 --- --- --- --- FAM151A 338094 broad.mit.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:55081756_55081757insG ENST00000302250.2 - 3 511_512 c.351_352insC c.(349-354)ccctatfs p.Y118fs FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 118 integral to membrane p.T118fs*43(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CTGTAGATAGTGGGGGGGTGTG 0.594 12 264 --- --- --- --- DAB1 1600 broad.mit.edu 37 1 57491653 57491654 + Splice_Site INS - - G rs138352976 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:57491653_57491654insG ENST00000371236.2 - 10 1049_1050 c.e10+1 DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000371234.4_Splice_Site O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 TGCATACTTACGGGGGGAGAGG 0.465 11 576 --- --- --- --- FGGY 55277 broad.mit.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G rs145440779 by1000genomes TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:59812016_59812017insG ENST00000371218.4 + 4 595_596 c.411_412insG c.(409-414)gtggggfs p.VG137fs FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 137 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TCCAGTACGTCGGGGGGGTGAT 0.500 16 199 --- --- --- --- JAK1 3716 broad.mit.edu 37 1 65325832 65325833 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:65325832_65325833insG ENST00000342505.4 - 9 1537_1538 c.1289_1290insC c.(1288-1290)cttfs p.L430fs NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 430 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) GGACGATCAACGGGGGGGCCAC 0.540 Mis ALL 9 174 --- --- --- --- GBP7 388646 broad.mit.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C rs138127555 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:89613321_89613322insC ENST00000294671.2 - 8 1431_1432 c.1293_1294insG c.(1291-1296)ggacaafs p.Q432fs NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 432 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TAGATATTGTGCCCCCCCGGAA 0.436 21 232 --- --- --- --- WDR47 22911 broad.mit.edu 37 1 109553972 109553973 + Frame_Shift_Ins INS - - A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:109553972_109553973insA ENST00000357672.3 - 4 986_987 c.611_612insT c.(610-612)ttgfs p.L204fs WDR47_ENST00000361054.3_Frame_Shift_Ins_p.L204fs|WDR47_ENST00000400794.3_Frame_Shift_Ins_p.L239fs|WDR47_ENST00000369965.4_Frame_Shift_Ins_p.L232fs|WDR47_ENST00000369962.3_Frame_Shift_Ins_p.L232fs O94967 WDR47_HUMAN WD repeat domain 47 232 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CATTACCACATAAGAGGTCGAT 0.391 11 393 --- --- --- --- OLFML3 56944 broad.mit.edu 37 1 114523958 114523959 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:114523958_114523959insC ENST00000369551.1 + 4 1016_1017 c.728_729insC c.(727-729)accfs p.T243fs OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 263 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGGGGCTGATCCCCCCCTACG 0.559 7 178 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144922606 144922607 + Frame_Shift_Del DEL AT AT - rs148145000 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:144922606_144922607delAT ENST00000529945.1 - 3 1728_1729 c.1289_1290delAT c.(1288-1290)tfs p.Y430fs PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.Y404fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Del_p.Y430fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.Y333fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.Y267fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.Y267fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Del_p.Y54fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.Y267fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.Y404fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.Y267fs Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 267 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ACTTTAGTTCATAGCTCATTTC 0.361 T PDGFRB MPD 30 508 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145585532 145585533 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:145585532_145585533insG ENST00000393045.2 + 14 1887_1888 c.1797_1798insG c.(1795-1800)ccggggfs p.PG599fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 599 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGTGGCCCCTGGGGGGGCCTT 0.663 10 139 --- --- --- --- RFX5 5993 broad.mit.edu 37 1 151318740 151318741 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:151318740_151318741insG ENST00000290524.4 - 3 234_235 c.56_57insC c.(55-57)cggfs p.R19fs RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 19 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGCACCACCTGGGGGGGCCCT 0.554 13 285 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152325784 152325789 + In_Frame_Del DEL GTACTG GTACTG - rs146394048 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:152325784_152325789delGTACTG ENST00000388718.5 - 3 4545_4550 c.4473_4478delCAGTAC c.(4471-4479)tca>tc p.SST1491del FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1491 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTCCAGTTGTACTGGACCCTCTCT 0.524 7 803 --- --- --- --- SLC39A1 27173 broad.mit.edu 37 1 153934780 153934781 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:153934780_153934781insC ENST00000368623.3 - 2 992_993 c.233_234insG c.(232-234)ggtfs p.G78fs SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs Q9NY26 S39A1_HUMAN solute carrier family 39 (zinc transporter), member 1 78 endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1) 12 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) CCAAAAAGACGCCCCCCGCGAA 0.614 7 159 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154246356 154246357 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:154246356_154246357insG ENST00000328703.7 + 3 636_637 c.423_424insG c.(421-426)ttggggfs p.LG141fs HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 141 Involved in HCLS1 binding. F -> L (in SCN3; mild form). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCAGGATCTTTGGGGGGGTCTT 0.554 Kostmann syndrome 13 227 --- --- --- --- TDRD10 126668 broad.mit.edu 37 1 154493907 154493908 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:154493907_154493908insC ENST00000368482.4 + 6 1159_1160 c.321_322insC c.(319-324)agccccfs p.SP107fs TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 107 RRM. nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 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) CAAGCAAAAGGCCCCCCAAGAG 0.520 11 638 --- --- --- --- OR10Z1 128368 broad.mit.edu 37 1 158576486 158576487 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:158576486_158576487insG ENST00000361284.1 + 1 258_259 c.258_259insG c.(256-261)gcggggfs p.AG86fs NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) CTGGCCTGGCTGGGGGGGACCA 0.554 21 868 --- --- --- --- IGSF9 57549 broad.mit.edu 37 1 159904586 159904587 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:159904586_159904587insG ENST00000368094.1 - 7 896_897 c.699_700insC c.(697-702)ccagaafs p.E234fs IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 234 Ig-like 3. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGCTGTTCTTGGGGGGCACCA 0.569 7 252 --- --- --- --- ADCY10 55811 broad.mit.edu 37 1 167778957 167778958 + Frame_Shift_Ins INS - - T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:167778957_167778958insT ENST00000367848.1 - 33 5011_5012 c.4514_4515insA c.(4513-4515)aaafs p.K1505fs ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.K1597fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.K1444fs|ADCY10_ENST00000485964.1_5'UTR Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1597 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TCAGGAATTTGTTTTTTTGAAG 0.351 8 390 --- --- --- --- ADCY10 55811 broad.mit.edu 37 1 167865905 167865906 + Frame_Shift_Ins INS - - G rs35604923 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:167865905_167865906insG ENST00000367848.1 - 7 887_888 c.390_391insC c.(388-393)ccatttfs p.F131fs ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 223 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AAATTAAAATTGGGGGGTGGTT 0.332 9 527 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176563963 176563964 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:176563963_176563964insG ENST00000367662.3 + 3 2387_2388 c.1223_1224insG c.(1222-1224)cggfs p.R408fs PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 408 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.L408fs*49(2)|p.L408L(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TCTTTGCTCCTGGGGGGAGACA 0.574 8 324 --- --- --- --- FAM129A 116496 broad.mit.edu 37 1 184765130 184765131 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:184765130_184765131insG ENST00000367511.3 - 14 1960_1961 c.1767_1768insC c.(1765-1770)cccaggfs p.R590fs FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 590 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TTTGACCCTGTGGGGGGCTTTA 0.490 7 248 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 186022084 186022085 + Splice_Site INS - - C rs150287374 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:186022084_186022085insC ENST00000271588.4 + 43 6807_6808 c.6577_splice c.e43-1 p.A2193_splice HMCN1_ENST00000367492.2_Splice_Site_p.A2193_splice NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2193 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTTTTTCTAGTCCCCCCAAATA 0.342 7 212 --- --- --- --- ATP2B4 493 broad.mit.edu 37 1 203667345 203667346 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:203667345_203667346insC ENST00000357681.5 + 3 1377_1378 c.254_255insC c.(253-255)accfs p.T85fs ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 85 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CACAACGTGATCCCCCCCAAAA 0.480 10 194 --- --- --- --- PIK3C2B 5287 broad.mit.edu 37 1 204438071 204438072 + Frame_Shift_Ins INS - - G rs115574296 by1000genomes TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:204438071_204438072insG ENST00000367187.3 - 3 1415_1416 c.859_860insC c.(859-861)cacfs p.H287fs PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 287 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.R287fs*92(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGCATAGGTGCGGGGGGGCACC 0.624 25 285 --- --- --- --- NFASC 23114 broad.mit.edu 37 1 204924032 204924033 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:204924032_204924033insC ENST00000367172.4 + 7 816_817 c.488_489insC c.(487-489)accfs p.T163fs NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs O94856 NFASC_HUMAN neurofascin 163 Ig-like C2-type 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.P159fs*12(1)|p.P165fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CTCCAGTGCAACCCCCCGCCTG 0.559 7 464 --- --- --- --- CR2 1380 broad.mit.edu 37 1 207642043 207642044 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:207642043_207642044insC ENST00000367057.3 + 3 806_807 c.617_618insC c.(616-618)gccfs p.A206fs CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 206 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.T209fs*10(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGGAGTGCTGTCCCCCCCACAT 0.396 18 484 --- --- --- --- DIEXF 27042 broad.mit.edu 37 1 210014266 210014267 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:210014266_210014267insC ENST00000491415.2 + 8 1408_1409 c.1351_1352insC c.(1351-1353)cccfs p.P451fs NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 451 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 CCTCATTGCTTCCCCCCTGGGC 0.465 7 345 --- --- --- --- ARV1 64801 broad.mit.edu 37 1 231131566 231131567 + Frame_Shift_Ins INS - - A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:231131566_231131567insA ENST00000310256.2 + 4 566_567 c.509_510insA c.(508-510)gaafs p.E170fs ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Ins_p.E130fs NM_022786.1 NP_073623.1 Q9H2C2 ARV1_HUMAN ARV1 homolog (S. cerevisiae) 170 sphingolipid metabolic process integral to membrane breast(3)|large_intestine(2)|lung(2) 7 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233) CCCATGACGGCAAAAAAAAAGC 0.381 7 158 --- --- --- --- SIPA1L2 57568 broad.mit.edu 37 1 232650637 232650638 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr1:232650637_232650638insG ENST00000366630.1 - 2 806_807 c.448_449insC c.(448-450)aagfs p.K150fs SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 150 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AAGTCCTCTTTGGGGGGAATGG 0.490 7 431 --- --- --- --- VSNL1 7447 broad.mit.edu 37 2 17773439 17773440 + Frame_Shift_Ins INS - - AT TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:17773439_17773440insAT ENST00000406397.1 + 2 623_624 c.98_99insAT c.(97-99)gttfs p.V33fs VSNL1_ENST00000295156.4_Frame_Shift_Ins_p.V33fs|VSNL1_ENST00000404666.2_Frame_Shift_Ins_p.V33fs P62760 VISL1_HUMAN visinin-like 1 33 EF-hand 1. calcium ion binding p.G33E(1) NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TGGTACAAAGGATTTCTCAAGG 0.450 14 514 --- --- --- --- APOB 338 broad.mit.edu 37 2 21228306 21228307 + Frame_Shift_Ins INS - - A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:21228306_21228307insA ENST00000233242.1 - 26 11560_11561 c.11433_11434insT c.(11431-11436)ttagatfs p.LD3811fs NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3811 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACGGTTATCTCAAAAAAGGGAA 0.426 7 443 --- --- --- --- IFT172 26160 broad.mit.edu 37 2 27688717 27688718 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:27688717_27688718insC ENST00000260570.3 - 17 1827_1828 c.1724_1725insG c.(1723-1725)gaafs p.E575fs NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 575 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CCTCGGTCTTTCCCCCGCCCCG 0.475 10 831 --- --- --- --- TET3 200424 broad.mit.edu 37 2 74329151 74329152 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:74329151_74329152insG ENST00000409262.3 + 9 4831_4832 c.4831_4832insG c.(4831-4833)gggfs p.G1611fs NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1611 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GAAGCGCAAGTGGGGGGGCACT 0.688 9 55 --- --- --- --- HK2 3099 broad.mit.edu 37 2 75104377 75104378 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:75104377_75104378insG ENST00000290573.2 + 8 1560_1561 c.960_961insG c.(958-963)ttggggfs p.LG320fs HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 320 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 AGCTGCTCTTTGGGGGGAAGCT 0.545 10 603 --- --- --- --- RAB6C 84084 broad.mit.edu 37 2 130738387 130738388 + Frame_Shift_Ins INS - - T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:130738387_130738388insT ENST00000410061.2 + 1 1153_1154 c.699_700insT c.(697-702)ggtgaafs p.E234fs NM_032144.2 NP_115520.2 Q9H0N0 RAB6C_HUMAN RAB6C, member RAS oncogene family 234 protein transport|response to drug|small GTPase mediated signal transduction GTP binding|GTPase activity large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 5 Colorectal(110;0.1) TGAATATTGGCTTGAACCTTTT 0.450 8 419 --- --- --- --- NCKAP5 344148 broad.mit.edu 37 2 133541083 133541084 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:133541083_133541084insG ENST00000409261.1 - 14 3673_3674 c.3300_3301insC c.(3298-3303)ccagccfs p.A1101fs NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.A1101fs|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1101 Ser-rich. protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 AAGGAAGGCTTGGGGGGTGTGG 0.505 10 711 --- --- --- --- RIF1 55183 broad.mit.edu 37 2 152301850 152301851 + Splice_Site INS - - T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:152301850_152301851insT ENST00000243326.4 + 18 2469 c.e18-1 RIF1_ENST00000428287.2_Splice_Site|RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TTCTTGTTTTAGACCAATGAAG 0.322 17 183 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168099957 168099958 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:168099957_168099958insG ENST00000409195.1 + 9 2144_2145 c.2055_2056insG c.(2053-2058)acggggfs p.TG685fs XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 510 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGACATAACTGGGGGGGATGT 0.421 12 193 --- --- --- --- MYO3B 140469 broad.mit.edu 37 2 171240258 171240259 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:171240258_171240259insC ENST00000334231.6 + 12 1251_1252 c.1251_1252insC c.(1249-1254)aaccccfs p.NP417fs MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs Q8WXR4 MYO3B_HUMAN myosin IIIB 408 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCGCCTCCAATCCCCCCCACAT 0.465 10 223 --- --- --- --- NEUROD1 4760 broad.mit.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:182542971_182542972insG ENST00000295108.3 - 2 1073_1074 c.616_617insC c.(616-618)cctfs p.P206fs CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 14 230 --- --- --- --- ALS2 57679 broad.mit.edu 37 2 202588159 202588160 + Frame_Shift_Ins INS - - C rs41309046 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:202588159_202588160insC ENST00000264276.6 - 22 3889_3890 c.3517_3518insG c.(3517-3519)aaafs p.K1173fs ALS2_ENST00000457679.2_Frame_Shift_Ins_p.K485fs NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 1173 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 CATATACTTTTCCCCCCTGCAC 0.406 10 374 --- --- --- --- ADAM23 8745 broad.mit.edu 37 2 207460860 207460861 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:207460860_207460861insC ENST00000264377.3 + 24 2661_2662 c.2333_2334insC c.(2332-2334)cccfs p.P778fs ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 778 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.K781fs*3(2) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGGAACCTTCACCCCCCCAAGG 0.455 9 93 --- --- --- --- RUFY4 285180 broad.mit.edu 37 2 218940309 218940310 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:218940309_218940310insG ENST00000374155.3 + 8 1564_1565 c.1154_1155insG c.(1153-1155)tggfs p.W385fs RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000463872.1_3'UTR Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 365 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGGCAGGGGTCGGGGGGCTCTA 0.594 8 214 --- --- --- --- NYAP2 57624 broad.mit.edu 37 2 226447071 226447072 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:226447071_226447072insC ENST00000272907.6 + 4 1351_1352 c.938_939insC c.(937-939)tccfs p.S313fs NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 313 Pro-rich. TCAGTGCCATGCCCCCCCAAGG 0.619 7 68 --- --- --- --- INPP5D 3635 broad.mit.edu 37 2 234072358 234072359 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:234072358_234072359insC ENST00000359570.5 + 14 1210_1211 c.1210_1211insC c.(1210-1212)cccfs p.P404fs INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 416 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGAAGGTAACGCCCCCCCTCCC 0.535 16 269 --- --- --- --- NDUFA10 4705 broad.mit.edu 37 2 240954220 240954221 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:240954220_240954221insG ENST00000252711.2 - 5 704_705 c.604_605insC c.(604-606)cctfs p.P202fs NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 202 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AATCACCAGGTGGGGGGGCAGG 0.535 27 409 --- --- --- --- PPP1R7 5510 broad.mit.edu 37 2 242092998 242092999 + Frame_Shift_Ins INS - - G rs140300724 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr2:242092998_242092999insG ENST00000234038.6 + 2 634_635 c.160_161insG c.(160-162)gggfs p.G54fs PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.G54fs NM_002712.1 NP_002703.1 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 54 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) TGGGGAGGAGCGGGGGGAGGAG 0.629 7 139 --- --- --- --- GRM7 2917 broad.mit.edu 37 3 6903212 6903213 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:6903212_6903213insG ENST00000486284.1 + 1 411_412 c.137_138insG c.(136-138)gggfs p.G46fs GRM7_ENST00000402647.2_Frame_Shift_Ins_p.G46fs|GRM7_ENST00000403881.1_Frame_Shift_Ins_p.G46fs|GRM7_ENST00000389336.4_Frame_Shift_Ins_p.G46fs|GRM7_ENST00000357716.4_Frame_Shift_Ins_p.G46fs NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 46 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) ATCCGGATCGAGGGGGACGTCA 0.688 2 4 --- --- --- --- SRGAP3 9901 broad.mit.edu 37 3 9034599 9034600 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:9034599_9034600insC ENST00000383836.3 - 20 2975_2976 c.2548_2549insG c.(2548-2550)gatfs p.D850fs SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 850 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CCGGCCCATCACCCCCCCAAAG 0.554 T RAF1 pilocytic astrocytoma 7 109 --- --- --- --- VHL 7428 broad.mit.edu 37 3 10191580 10191580 + Frame_Shift_Del DEL C C - TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:10191580delC ENST00000256474.2 + 3 1413 c.573delC c.(571-573)cafs p.H191fs VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.H150fs NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 191 H -> D (in ECYT2; dbSNP:rs28940301). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.H191fs*23(1)|p.D187_N193del(1)|p.H191fs*10(1)|p.H191fs*22(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) TGGAAGACCACCCAAATGTGC 0.502 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 44 29 --- --- --- --- MLH1 4292 broad.mit.edu 37 3 37070348 37070349 + Frame_Shift_Ins INS - - C rs63750855 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:37070348_37070349insC ENST00000231790.2 + 13 1699_1700 c.1483_1484insC c.(1483-1485)cccfs p.P495fs MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 495 Interaction with EXO1. mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.T495A(1)|p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 TGCAGCTTGTACCCCCCGGAGA 0.470 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 10 360 --- --- --- --- KCTD6 200845 broad.mit.edu 37 3 58486771 58486772 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:58486771_58486772insG ENST00000355076.6 + 2 1109_1110 c.126_127insG c.(124-129)ttggggfs p.LG42fs KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 42 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) GAGCTATGTTTGGGGGGGACTT 0.465 8 247 --- --- --- --- GRK7 131890 broad.mit.edu 37 3 141535707 141535708 + Frame_Shift_Ins INS - - G rs149574289 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:141535707_141535708insG ENST00000264952.2 + 4 1614_1615 c.1477_1478insG c.(1477-1479)gggfs p.G493fs NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 493 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.R493L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CTCTGAGGTTCGGGGGGTGGAA 0.460 14 524 --- --- --- --- CCNL1 57018 broad.mit.edu 37 3 156867954 156867954 + Frame_Shift_Del DEL G G - TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:156867954delG ENST00000295926.3 - 7 897 c.779delC c.(778-780)cgfs p.P260fs CCNL1_ENST00000461804.1_Frame_Shift_Del_p.P260fs|CCNL1_ENST00000479052.1_5'UTR NM_020307.2 NP_064703.1 Q9UK58 CCNL1_HUMAN cyclin L1 260 Cyclin-like 2. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) AGTTGGCAACGGAATCTAAAC 0.343 24 41 --- --- --- --- SAMD7 344658 broad.mit.edu 37 3 169646267 169646268 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr3:169646267_169646268insG ENST00000428432.2 + 7 1331_1332 c.942_943insG c.(940-945)atggggfs p.MG314fs SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 314 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TGGTTACAATTGGGGGGAATCT 0.381 7 252 --- --- --- --- LGI2 55203 broad.mit.edu 37 4 25005320 25005321 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:25005320_25005321insC ENST00000382114.4 - 8 1575_1576 c.1390_1391insG c.(1390-1392)catfs p.H464fs NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 464 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CAGGGTCATGGCCCCCCGGGAT 0.515 7 361 --- --- --- --- ENAM 10117 broad.mit.edu 37 4 71500242 71500242 + Frame_Shift_Del DEL C C - TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:71500242delC ENST00000396073.3 + 6 709 c.428delC c.(427-429)tafs p.S143fs NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 143 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AAGCAGCCATCACATAATCAA 0.483 14 70 --- --- --- --- HPGDS 27306 broad.mit.edu 37 4 95223320 95223321 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:95223320_95223321insC ENST00000295256.5 - 5 501_502 c.411_412insG c.(409-414)gggagafs p.R138fs NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 138 GST C-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) AGCCATTCTCTCCCCCCTAAAT 0.351 8 544 --- --- --- --- UNC5C 8633 broad.mit.edu 37 4 96091356 96091357 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:96091356_96091357insG ENST00000453304.1 - 15 2926_2927 c.2578_2579insC c.(2578-2580)gacfs p.D860fs NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 860 Death. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCCTCTCGTCTGGGGGGCATCC 0.599 7 313 --- --- --- --- RRH 10692 broad.mit.edu 37 4 110763720 110763721 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:110763720_110763721insC ENST00000317735.4 + 6 850_851 c.816_817insC c.(814-819)ccccccfs p.PP272fs NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 272 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) AGAAGATTCCTCCCCCCATGGC 0.416 7 313 --- --- --- --- GAB1 2549 broad.mit.edu 37 4 144381536 144381537 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:144381536_144381537insC ENST00000262995.4 + 9 2216_2217 c.1789_1790insC c.(1789-1791)cccfs p.P597fs GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 567 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) GTTTCCCATGTCCCCCCGACCA 0.406 9 273 --- --- --- --- FGG 2266 broad.mit.edu 37 4 155526058 155526059 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:155526058_155526059insC ENST00000404648.3 - 9 1528_1529 c.1289_1290insG c.(1288-1290)ggcfs p.G430fs FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 430 Platelet aggregation and Staphylococcus clumping. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CCTGTTTGGCTCCCCCCAGGTG 0.450 7 402 --- --- --- --- TLR3 7098 broad.mit.edu 37 4 186997804 186997805 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:186997804_186997805insG ENST00000296795.2 + 2 135_136 c.31_32insG c.(31-33)gggfs p.G11fs NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 11 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TATCTACTTTTGGGGGGGCCTT 0.446 8 186 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187558038 187558039 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:187558038_187558039insG ENST00000441802.2 - 5 3881_3882 c.3672_3673insC c.(3670-3675)ccaatcfs p.I1225fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1225 Cadherin 10. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ATGGTTGATTTGGGGGGACTAC 0.361 HNSCC(5;0.00058) 12 751 --- --- --- --- TRIML2 205860 broad.mit.edu 37 4 189012770 189012771 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr4:189012770_189012771insG ENST00000512729.1 - 7 1294_1295 c.920_921insC c.(919-921)cctfs p.P307fs TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 307 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GCCTTTTCAGAGGGGGGAAGAC 0.559 7 408 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 31799540 31799541 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:31799540_31799541insC ENST00000438447.1 + 2 573_574 c.185_186insC c.(184-186)accfs p.T62fs PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs O15018 PDZD2_HUMAN PDZ domain containing 2 62 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.E65fs*34(1)|p.E65fs*21(1) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCTGATCACAGCCCCCCCGAAA 0.589 8 227 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 31799656 31799657 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:31799656_31799657insG ENST00000438447.1 + 2 689_690 c.301_302insG c.(301-303)gggfs p.G101fs PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs O15018 PDZD2_HUMAN PDZ domain containing 2 101 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGAAAAGCGCAGGGGGGGCAAG 0.574 9 162 --- --- --- --- SLC1A3 6507 broad.mit.edu 37 5 36679798 36679799 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:36679798_36679799insG ENST00000265113.4 + 7 1406_1407 c.930_931insG c.(928-933)atggggfs p.MG310fs CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 310 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) TGGGTGTGATTGGGGGGCAGCT 0.520 14 646 --- --- --- --- C5orf42 65250 broad.mit.edu 37 5 37108532 37108533 + Frame_Shift_Ins INS - - T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:37108532_37108533insT ENST00000274258.7 - 51 9560_9561 c.5973_5974insA c.(5971-5976)aaatggfs p.W1992fs C5orf42_ENST00000508244.1_Frame_Shift_Ins_p.W3094fs|C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.W3094fs E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 3094 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GCACTTCCATGTTTTTTTGTAT 0.431 10 450 --- --- --- --- C6 729 broad.mit.edu 37 5 41159256 41159257 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:41159256_41159257insG ENST00000263413.3 - 12 2047_2048 c.1783_1784insC c.(1783-1785)acgfs p.T595fs C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 595 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.Q595K(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CCCTCCTCGTTGGGGGGCAGGA 0.500 7 357 --- --- --- --- C6 729 broad.mit.edu 37 5 41181559 41181560 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:41181559_41181560insC ENST00000263413.3 - 7 1092_1093 c.828_829insG c.(826-831)gggctcfs p.L277fs C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 277 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTGAAAGAGCTCCCCCCCTGAC 0.376 7 221 --- --- --- --- MOCS2 4338 broad.mit.edu 37 5 52402939 52402940 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:52402939_52402940insG ENST00000361377.4 - 3 293_294 c.252_253insC c.(250-255)ccttagfs p.*85fs MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 85 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) CCTCCACTAATGGGGGGGATAA 0.426 7 186 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71491428 71491429 + Frame_Shift_Ins INS - - A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:71491428_71491429insA ENST00000296755.7 + 5 2544_2545 c.2246_2247insA c.(2245-2247)gaafs p.E749fs NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 749 Lys-rich (highly basic, contains many KKEE and KKEI/V repeats). microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CTGTCTGAAGCAAAAAAACCAG 0.396 7 514 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71495076 71495077 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:71495076_71495077insC ENST00000296755.7 + 5 6192_6193 c.5894_5895insC c.(5893-5895)accfs p.T1965fs NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1965 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAGACCACCAGCCCCCCCGAAG 0.485 17 391 --- --- --- --- GCNT4 51301 broad.mit.edu 37 5 74324982 74324983 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:74324982_74324983insG ENST00000322348.4 - 1 1741_1742 c.880_881insC c.(880-882)taafs p.*294fs NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 294 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity p.H294fs*2(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) CTGAATGTTATGGGGGGGTGCT 0.366 16 202 --- --- --- --- TTC37 9652 broad.mit.edu 37 5 94863716 94863716 + Splice_Site DEL C C - TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:94863716delC ENST00000358746.2 - 13 1433 c.e13+1 NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 GACAAGTCTACCTGATCAAGC 0.363 59 150 --- --- --- --- SLC12A2 6558 broad.mit.edu 37 5 127522258 127522259 + In_Frame_Ins INS - - AGGACC TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:127522258_127522259insAGGACC ENST00000262461.2 + 27 3763_3764 c.3574_3575insAGGACC c.(3574-3576)gga>AGGACCgga p.1191_1192insRT SLC12A2_ENST00000343225.4_In_Frame_Ins_p.1175_1176insRT NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 1191 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGCTCTATCTAAGGACCTACCA 0.431 45 303 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127648336 127648337 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:127648336_127648337insG ENST00000508053.1 - 43 5842_5843 c.4868_4869insC c.(4867-4869)cgtfs p.R1623fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs P35556 FBN2_HUMAN fibrillin 2 1623 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.P1623P(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGCTATTGACAGGGGGGCATGT 0.505 8 886 --- --- --- --- HSPA4 3308 broad.mit.edu 37 5 132432907 132432907 + Frame_Shift_Del DEL G G - rs143003242 by1000genomes TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:132432907delG ENST00000304858.2 + 15 2147 c.1858delG c.(1858-1860)cafs p.A620fs NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 620 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCTAAGAACGCAGTGGAGGA 0.373 8 707 --- --- --- --- KDM3B 51780 broad.mit.edu 37 5 137727193 137727194 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:137727193_137727194insC ENST00000314358.5 + 8 2072_2073 c.1872_1873insC c.(1870-1875)caccccfs p.HP624fs KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Frame_Shift_Ins_p.HP280fs NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 624 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TATTTTTACAGCCCCCCAAATT 0.505 7 173 --- --- --- --- PCDHGC3 5098 broad.mit.edu 37 5 140857727 140857728 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:140857727_140857728insC ENST00000308177.3 + 1 2148_2149 c.2044_2045insC c.(2044-2046)cccfs p.P682fs PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGGCTCTGCCCCCCGGGAG 0.515 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 194 --- --- --- --- ARAP3 64411 broad.mit.edu 37 5 141049341 141049342 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:141049341_141049342insC ENST00000239440.4 - 16 2351_2352 c.2286_2287insG c.(2284-2289)ggggatfs p.D763fs ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 763 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TGCTGGATCCTCCCCCCAGCGA 0.579 13 630 --- --- --- --- PCDH12 51294 broad.mit.edu 37 5 141336747 141336748 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:141336747_141336748insG ENST00000231484.3 - 1 1879_1880 c.669_670insC c.(667-672)ccagtcfs p.V224fs NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 224 Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCTGACTTGGGGGGGTTCC 0.480 16 332 --- --- --- --- ARHGAP26 23092 broad.mit.edu 37 5 142586762 142586763 + Splice_Site INS - - C rs144777273 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:142586762_142586763insC ENST00000378004.3 + 21 2343_2344 c.e21-1 ARHGAP26_ENST00000274498.4_Splice_Site|ARHGAP26_ENST00000486650.1_Intron NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding p.?(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGTCTTGCAGCCCCCCGAATC 0.579 7 312 --- --- --- --- LARS 51520 broad.mit.edu 37 5 145523013 145523014 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:145523013_145523014insC ENST00000394434.2 - 19 2004_2005 c.1838_1839insG c.(1837-1839)gaafs p.E613fs LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 613 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CATGCAAGTTACCCCCCTGCAA 0.450 8 799 --- --- --- --- SLC6A7 6534 broad.mit.edu 37 5 149581960 149581961 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:149581960_149581961insG ENST00000230671.2 + 7 1280_1281 c.909_910insG c.(907-912)ttggggfs p.LG303fs SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 303 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) GTGTGGGCTTCGGGGGGCTCCT 0.569 9 330 --- --- --- --- LARP1 23367 broad.mit.edu 37 5 154181821 154181822 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:154181821_154181822insG ENST00000336314.4 + 11 1764_1765 c.1740_1741insG c.(1738-1743)ccggggfs p.PG580fs NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 657 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCCGGCACCCAGGGGGGGACCG 0.550 9 220 --- --- --- --- ADAM19 8728 broad.mit.edu 37 5 156915296 156915297 + Frame_Shift_Ins INS - - G rs11466804 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:156915296_156915297insG ENST00000257527.4 - 21 2604_2605 c.2526_2527insC c.(2524-2529)cccaccfs p.T843fs ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs|ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 843 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAATTTGGTGCGGGGGGAATTG 0.564 7 440 --- --- --- --- STK10 6793 broad.mit.edu 37 5 171517344 171517345 + Frame_Shift_Ins INS - - T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr5:171517344_171517345insT ENST00000176763.5 - 10 1919_1920 c.1576_1577insA c.(1576-1578)cctfs p.P526fs NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 526 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCGCTTGAGGGTTTTTTTGTAC 0.515 8 861 --- --- --- --- EXOC2 55770 broad.mit.edu 37 6 637793 637794 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:637793_637794insG ENST00000230449.4 - 2 160_161 c.25_26insC c.(25-27)tgtfs p.C9fs EXOC2_ENST00000448181.3_Intron NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 9 IPT/TIG. exocytosis|protein transport p.Q6fs*28(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GCCGGTCACAAGGGGGGGTTGT 0.485 7 266 --- --- --- --- PRPF4B 8899 broad.mit.edu 37 6 4032356 4032357 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:4032356_4032357insG ENST00000337659.6 + 2 705_706 c.605_606insG c.(604-606)aggfs p.R202fs PRPF4B_ENST00000538861.1_Frame_Shift_Ins_p.R188fs NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 202 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) AAGAAAAGTAAGGGGGGTATTG 0.361 7 261 --- --- --- --- GCNT2 2651 broad.mit.edu 37 6 10557409 10557410 + Frame_Shift_Ins INS - - C rs55808116 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:10557409_10557410insC ENST00000316170.3 + 1 1170_1171 c.753_754insC c.(751-756)ccccccfs p.PP251fs GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 253 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TGAAACCGCCTCCCCCCCATAA 0.485 18 378 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:13206134_13206135insG ENST00000379350.1 + 7 881_882 c.752_753insG c.(751-753)gggfs p.G251fs PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 10 174 --- --- --- --- DCDC2 51473 broad.mit.edu 37 6 24205282 24205283 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:24205282_24205283insC ENST00000378454.3 - 8 1271_1272 c.970_971insG c.(970-972)agcfs p.S324fs DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 324 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GACTTCTGCTGCCCCCCGTGTT 0.411 26 1207 --- --- --- --- HCG17 414778 broad.mit.edu 37 6 30230128 30230129 + RNA INS - - G rs2523745 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:30230128_30230129insG ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA AGGTGAGACATGGGGGGGCCTG 0.510 8 219 --- --- --- --- DDR1 780 broad.mit.edu 37 6 30867830 30867831 + Frame_Shift_Ins INS - - G rs146246499 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:30867830_30867831insG ENST00000361741.4 + 12 1492_1493 c.1297_1298insG c.(1297-1299)gggfs p.G433fs DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376569.3_3'UTR Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 0 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) TGTACATTTTTGGGGGGAGAGA 0.441 7 558 --- --- --- --- BRD2 6046 broad.mit.edu 37 6 32948228 32948229 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:32948228_32948229insC ENST00000395289.2 + 13 3962_3963 c.2361_2362insC c.(2359-2364)aaccccfs p.NP787fs BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs P25440 BRD2_HUMAN bromodomain containing 2 752 ET.|Poly-Ser.|Ser-rich. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CTACTAAAAAGCCCCCCAAGAA 0.426 7 268 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33405504 33405505 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:33405504_33405505insC ENST00000418600.2 + 8 923_924 c.822_823insC c.(820-825)ctccccfs p.LP274fs SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.LP274fs|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.LP215fs|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 274 C2. 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 CCCGGGAGCTGCCCCCCAAGAA 0.599 13 245 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34791081 34791082 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:34791081_34791082insC ENST00000192788.5 + 4 465_466 c.294_295insC c.(292-297)cgccccfs p.RP98fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 98 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGGATCCTCGGCCCCCCAATGG 0.446 9 630 --- --- --- --- FANCE 2178 broad.mit.edu 37 6 35425714 35425715 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:35425714_35425715insC ENST00000229769.2 + 4 1107_1108 c.922_923insC c.(922-924)cccfs p.P308fs NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 308 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 ATTGGAGGATGCCCCCCCAGTT 0.540 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 12 128 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767595 127767596 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:127767595_127767596insC ENST00000483725.3 - 5 2204_2205 c.1868_1869insG c.(1867-1869)gcafs p.A623fs SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TCACTTCCTGTCCCCCCCACAC 0.401 11 401 --- --- --- --- UST 10090 broad.mit.edu 37 6 149395141 149395142 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:149395141_149395142insC ENST00000367463.4 + 8 1213_1214 c.1110_1111insC c.(1108-1113)aaccccfs p.NP370fs UST_ENST00000466695.1_3'UTR NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 370 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) ACGTCAGCAAGCCCCCCCTGAG 0.490 7 153 --- --- --- --- FGFR1OP 11116 broad.mit.edu 37 6 167438321 167438322 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr6:167438321_167438322insC ENST00000366847.3 + 9 1089_1090 c.858_859insC c.(856-861)gcccccfs p.AP286fs FGFR1OP_ENST00000349556.4_Frame_Shift_Ins_p.AP266fs NM_007045.2 NP_008976.1 O95684 FR1OP_HUMAN FGFR1 oncogene partner 286 G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation centrosome|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity large_intestine(2)|ovary(1)|stomach(1) 4 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) TCTCGGATGCACCCCCCTTAAA 0.495 T FGFR1 """MPD, NHL""" 10 475 --- --- --- --- EIF3B 8662 broad.mit.edu 37 7 2404085 2404086 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:2404085_2404086insG ENST00000360876.4 + 6 1134_1135 c.1078_1079insG c.(1078-1080)gggfs p.G360fs EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 360 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CATTGCTCTATGGGGGGGAGAG 0.475 9 181 --- --- --- --- ETV1 2115 broad.mit.edu 37 7 13975472 13975473 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:13975472_13975473insG ENST00000343495.5 - 7 1098_1099 c.360_361insC c.(358-363)cccaccfs p.T121fs ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs P50549 ETV1_HUMAN ets variant 1 139 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTGGATGGTGTGGGGGGGTTGG 0.530 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 10 202 --- --- --- --- OSBPL3 26031 broad.mit.edu 37 7 24911654 24911655 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:24911654_24911655insC ENST00000313367.2 - 3 581_582 c.130_131insG c.(130-132)gatfs p.D44fs OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.D44fs NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 44 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 GTAATTCATCTCCCCCCTCAGT 0.431 8 173 --- --- --- --- FKBP9 11328 broad.mit.edu 37 7 33014803 33014804 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:33014803_33014804insC ENST00000242209.4 + 3 546_547 c.377_378insC c.(376-378)accfs p.T126fs FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 126 PPIase FKBP-type 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) GCTGGTGTGATCCCCCCCAATT 0.446 8 212 --- --- --- --- TRGC2 6967 broad.mit.edu 37 7 38284915 38284934 + RNA DEL TGAGTGTGTCTGTGACTGTG TGAGTGTGTCTGTGACTGTG - rs12701613 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:38284915_38284934delTGAGTGTGTCTGTGACTGTG ENST00000436911.2 - 0 330 tgtgtgtgtctgagtgtgtctgtgactgtgtgtAATTAAA 0.377 7 81 --- --- --- --- BAZ1B 9031 broad.mit.edu 37 7 72892348 72892349 + Frame_Shift_Del DEL GT GT - TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:72892348_72892349delGT ENST00000339594.4 - 7 1780_1781 c.1442_1443delAC c.(1441-1443)tfs p.Y482fs BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.Y482fs NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 482 Lys-rich. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TTTCTTTGTAGTATGCAATGAG 0.500 8 231 --- --- --- --- FBXO24 26261 broad.mit.edu 37 7 100187685 100187686 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:100187685_100187686insC ENST00000241071.6 + 2 447_448 c.125_126insC c.(124-126)tccfs p.S42fs PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 42 F-box. ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ATCCAGTTGTTCCCCCCAGAGC 0.569 10 359 --- --- --- --- PLOD3 8985 broad.mit.edu 37 7 100856125 100856126 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:100856125_100856126insC ENST00000223127.3 - 8 1274_1275 c.876_877insG c.(874-879)ggagccfs p.A293fs NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 293 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CACCTCACCTGCCCCCCCGGGA 0.673 8 43 --- --- --- --- ZNF277 11179 broad.mit.edu 37 7 111958300 111958300 + Frame_Shift_Del DEL T T - TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:111958300delT ENST00000361822.3 + 5 658 c.529delT c.(529-531)ttfs p.F177fs ZNF277_ENST00000450657.1_Frame_Shift_Del_p.F177fs NM_021994.2 NP_068834.2 Q9NRM2 ZN277_HUMAN zinc finger protein 277 177 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 CGTTTGTATGTTTTGCAATGA 0.338 35 200 --- --- --- --- FSCN3 29999 broad.mit.edu 37 7 127235625 127235626 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:127235625_127235626insC ENST00000265825.5 + 2 628_629 c.409_410insC c.(409-411)cccfs p.P137fs FSCN3_ENST00000420086.2_Frame_Shift_Ins_p.P3fs NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 137 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 CCACATGTGGACCCCCCGACCA 0.594 7 144 --- --- --- --- PAX4 5078 broad.mit.edu 37 7 127255556 127255557 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:127255556_127255557insC ENST00000341640.2 - 1 223_224 c.18_19insG c.(16-21)ggtcttfs p.L7fs PAX4_ENST00000338516.3_Frame_Shift_Ins_p.L15fs|PAX4_ENST00000378740.2_Frame_Shift_Ins_p.L7fs|PAX4_ENST00000463946.1_5'UTR NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 15 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 TTCACAAAGAGCCCCCCAAGCT 0.609 7 109 --- --- --- --- ZNF398 57541 broad.mit.edu 37 7 148876152 148876153 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr7:148876152_148876153insC ENST00000420008.2 + 6 1463_1464 c.675_676insC c.(673-678)acccccfs p.TP225fs ZNF398_ENST00000475153.1_Frame_Shift_Ins_p.TP396fs|ZNF398_ENST00000426851.2_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000540950.1_Frame_Shift_Ins_p.TP401fs|ZNF398_ENST00000483892.1_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000335901.4_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000491174.1_Frame_Shift_Ins_p.TP225fs NM_170686.2 NP_733787.1 Q8TD17 ZN398_HUMAN zinc finger protein 398 396 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) CCAGCGAGACACCCCCCACCTG 0.589 8 224 --- --- --- --- MYOM2 9172 broad.mit.edu 37 8 2088682 2088683 + Frame_Shift_Ins INS - - G rs34620424 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr8:2088682_2088683insG ENST00000262113.4 + 33 3978_3979 c.3837_3838insG c.(3835-3840)atggggfs p.MG1279fs MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1279 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ATATGAGAATCGGGGGGAGTGA 0.446 12 376 --- --- --- --- ADRA1A 148 broad.mit.edu 37 8 26722382 26722383 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr8:26722382_26722383insC ENST00000380573.3 - 2 1127_1128 c.104_105insG c.(103-105)gctfs p.A35fs ADRA1A_ENST00000380587.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000354550.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000276393.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000358857.5_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380581.2_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380586.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380572.3_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000519229.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380582.3_Frame_Shift_Ins_p.A35fs P35348 ADA1A_HUMAN adrenoceptor alpha 1A 35 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) AAAGAATGAGGCCCCCCAAGAT 0.569 7 155 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G rs142098461 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr8:68128855_68128856insG ENST00000262215.3 - 33 5044_5045 c.4655_4656insC c.(4654-4656)cccfs p.P1552fs ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1552 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GAGATGGAGGTGGGGGGGCAGT 0.421 8 138 --- --- --- --- NBN 4683 broad.mit.edu 37 8 90955480 90955481 + Splice_Site DEL CC CC - TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr8:90955480_90955481delCC ENST00000265433.3 - 14 2338_2339 c.2184_splice c.e14+1 p.EV728_splice NBN_ENST00000409330.1_Splice_Site_p.EV646_splice NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 728 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) TTCCTACTAACCTCCATTTCCT 0.401 Homologous recombination 55 86 --- --- --- --- ODF1 4956 broad.mit.edu 37 8 103572984 103572992 + In_Frame_Del DEL TGCAGCCCC TGCAGCCCC - rs3018444 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr8:103572984_103572992delTGCAGCCCC ENST00000285402.3 + 2 781_789 c.625_633delTGCAGCCCC c.(625-633)del p.CSP215del ODF1_ENST00000518835.1_Splice_Site_p.3_splice NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 215 C-X-P repeat region. cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CACTTCTCCTtgcagcccctgcagcccct 0.584 10 49 --- --- --- --- KLHL38 340359 broad.mit.edu 37 8 124664150 124664151 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr8:124664150_124664151insC ENST00000325995.7 - 1 1039_1040 c.1016_1017insG c.(1015-1017)gatfs p.D339fs CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 339 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 TGACAGCCATGCCCCCCAGCAC 0.589 7 215 --- --- --- --- MIR1208 100302281 broad.mit.edu 37 8 129162432 129162433 + RNA INS - - G rs2648841 by1000genomes TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr8:129162432_129162433insG ENST00000408334.1 + 0 71_72 NR_031613.1 ACCACTGTGGTGGGGGGGAGTG 0.564 7 81 --- --- --- --- MRPL50 54534 broad.mit.edu 37 9 104152774 104152775 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr9:104152774_104152775insG ENST00000374865.4 - 2 471_472 c.450_451insC c.(448-453)ccatttfs p.F151fs MRPL50_ENST00000539624.1_Intron NM_019051.2 NP_061924.1 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 151 mitochondrion|ribosome p.P150P(1) large_intestine(1)|lung(2)|prostate(2) 5 Acute lymphoblastic leukemia(62;0.0559) ATTTTCAAATTGGGGGGCAGAT 0.401 13 196 --- --- --- --- TNC 3371 broad.mit.edu 37 9 117797538 117797539 + Frame_Shift_Ins INS - - G rs148674204 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr9:117797538_117797539insG ENST00000350763.4 - 22 6142_6143 c.5731_5732insC c.(5731-5733)ggcfs p.G1911fs TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1911 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GACTGATGCCCGGGGGGGTCGC 0.475 11 334 --- --- --- --- FRMD4A 55691 broad.mit.edu 37 10 13696451 13696452 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr10:13696451_13696452insG ENST00000357447.2 - 23 3382_3383 c.3014_3015insC c.(3013-3015)cagfs p.Q1005fs FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 1005 Ser-rich. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 GGGGGCTGCTTGGGGGGGTGGC 0.535 14 187 --- --- --- --- MLLT10 8028 broad.mit.edu 37 10 21962451 21962452 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr10:21962451_21962452insG ENST00000377072.3 + 11 1572_1573 c.1224_1225insG c.(1222-1227)gaggggfs p.EG408fs MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 408 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V411fs*3(1) NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 GAAGCCAGGAAGGGGGGGTAAA 0.436 T """MLL, PICALM, CDK6""" AL 14 371 --- --- --- --- SEC24C 9632 broad.mit.edu 37 10 75525559 75525560 + Splice_Site INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr10:75525559_75525560insC ENST00000339365.2 + 11 1530_1531 c.1366_splice c.e11-1 p.VP456_splice SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 456 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TTCCCACAGTTCCCCCCCAGTA 0.510 19 359 --- --- --- --- ZSWIM8 23053 broad.mit.edu 37 10 75560463 75560464 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr10:75560463_75560464insC ENST00000604729.1 + 24 5365_5366 c.5068_5069insC c.(5068-5070)cccfs p.P1690fs ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs zinc finger, SWIM-type containing 8 CTTCTCCCGCTCCCCCCCCTAC 0.604 9 98 --- --- --- --- CPN1 1369 broad.mit.edu 37 10 101816832 101816833 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr10:101816832_101816833insG ENST00000370418.3 - 6 1199_1200 c.948_949insC c.(946-951)ccaagafs p.R317fs NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 317 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) AACTCCTCTTCGGGGGGAAACT 0.470 11 661 --- --- --- --- SHOC2 8036 broad.mit.edu 37 10 112771513 112771514 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr10:112771513_112771514insG ENST00000369452.4 + 9 2031_2032 c.1686_1687insG c.(1684-1689)gcggggfs p.AG562fs SHOC2_ENST00000265277.5_Frame_Shift_Ins_p.AG516fs NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 562 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) AGATTGTTGCTGGGGGGCCTTC 0.465 7 147 --- --- --- --- TRUB1 142940 broad.mit.edu 37 10 116730191 116730192 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr10:116730191_116730192insC ENST00000298746.3 + 5 649_650 c.588_589insC c.(586-591)gtccccfs p.VP196fs NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 196 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) TAATGCAAGTGCCCCCCCTGTA 0.317 10 211 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662141 6662142 + Frame_Shift_Ins INS - - G rs143767864 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:6662141_6662142insG ENST00000299441.3 - 2 1114_1115 c.703_704insC c.(703-705)gagfs p.E235fs NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 235 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R235Q(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCCTCCGGGGGGGTGAA 0.589 15 157 --- --- --- --- EIF4G2 1982 broad.mit.edu 37 11 10820934 10820935 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:10820934_10820935insG ENST00000526148.1 - 20 2871_2872 c.2361_2362insC c.(2359-2364)ccgcgafs p.R788fs EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 788 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.S788R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTTTCATCGCTGGGGGGGTTTA 0.406 7 164 --- --- --- --- PAX6 5080 broad.mit.edu 37 11 31812316 31812317 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:31812316_31812317insG ENST00000419022.1 - 13 1634_1635 c.1166_1167insC c.(1165-1167)ccafs p.P389fs PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 375 Pro/Ser/Thr-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) TCTGCATATGTGGGGGGGTGTA 0.589 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 9 110 --- --- --- --- NAT10 55226 broad.mit.edu 37 11 34163264 34163268 + Splice_Site DEL AGCTA AGCTA - TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:34163264_34163268delAGCTA ENST00000257829.3 + 26 2918_2921 c.2712_splice c.e26-1 p.904_splice NAT10_ENST00000531159.2_Splice_Site_p.832_splice|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 904 Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) TGTCTTTTGTAGCTATTTAATGAAG 0.488 17 207 --- --- --- --- APIP 51074 broad.mit.edu 37 11 34904908 34904909 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:34904908_34904909insC ENST00000395787.3 - 6 818_819 c.604_605insG c.(604-606)aacfs p.N202fs APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR NM_015957.2 NP_057041.2 Q96GX9 MTNB_HUMAN APAF1 interacting protein 202 apoptosis|L-methionine salvage cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity kidney(2)|lung(1)|skin(1) 4 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) CTCCCATGTTTCCCCCCACACA 0.450 11 404 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46784654 46784655 + Frame_Shift_Ins INS - - A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:46784654_46784655insA ENST00000529230.1 - 30 3808_3809 c.3762_3763insT c.(3760-3765)ttacacfs p.LH1254fs CKAP5_ENST00000415402.1_Frame_Shift_Ins_p.LH1254fs|CKAP5_ENST00000312055.5_Frame_Shift_Ins_p.LH1254fs|CKAP5_ENST00000354558.3_Frame_Shift_Ins_p.LH1254fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1254 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GTATTGGTGTCAAAAAACCTCA 0.361 9 463 --- --- --- --- TMX2 51075 broad.mit.edu 37 11 57505845 57505846 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:57505845_57505846insC ENST00000278422.4 + 4 396_397 c.384_385insC c.(382-387)aaccccfs p.NP128fs TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 128 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 TGACGTGCAAACCCCCCCTATA 0.421 16 477 --- --- --- --- PATL1 219988 broad.mit.edu 37 11 59425145 59425146 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:59425145_59425146insG ENST00000300146.9 - 5 562_563 c.478_479insC c.(478-480)gggfs p.G160fs NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 160 Pro-rich.|Region N; interaction with decapping machinery. Q -> H (in Ref. 2; BAG54601). cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TTCTGGACCCTGGGGGGGCCTC 0.455 9 185 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61093159 61093160 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:61093159_61093160insC ENST00000301764.7 - 6 1082_1083 c.685_686insG c.(685-687)catfs p.H229fs DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 229 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 AATGATGATGGCCCCCCCAAAG 0.490 Nucleotide excision repair (NER) 8 91 --- --- --- --- TBC1D10C 374403 broad.mit.edu 37 11 67176564 67176565 + Frame_Shift_Ins INS - - C rs147560025 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:67176564_67176565insC ENST00000312390.5 + 9 982_983 c.953_954insC c.(952-954)accfs p.T318fs TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.T318fs|TBC1D10C_ENST00000526387.1_Frame_Shift_Ins_p.HP253fs NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 318 intracellular Rab GTPase activator activity p.A321fs*100(2) 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) CTTCGAGCCATCCCCCCCGCGC 0.683 2 4 --- --- --- --- RSF1 51773 broad.mit.edu 37 11 77412023 77412024 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:77412023_77412024insG ENST00000308488.6 - 6 2552_2553 c.2250_2251insC c.(2248-2253)ccaagtfs p.S751fs RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs|RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S720fs Q96T23 RSF1_HUMAN remodeling and spacing factor 1 751 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TCTAGAACTTTGGGGGGAGAAT 0.411 11 322 --- --- --- --- KCTD21 283219 broad.mit.edu 37 11 77885567 77885568 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:77885567_77885568insC ENST00000340067.3 - 2 311_312 c.33_34insG c.(31-36)ggagctfs p.A12fs KCTD21-AS1_ENST00000600795.1_RNA NM_001029859.1 NP_001025030.1 Q4G0X4 KCD21_HUMAN potassium channel tetramerization domain containing 21 12 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2) 11 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.46e-24) GTATAGAGCTTCCCCCCGACGT 0.574 8 116 --- --- --- --- SYTL2 54843 broad.mit.edu 37 11 85435355 85435356 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:85435355_85435356insG ENST00000359152.5 - 1 3715_3716 c.3716_3717insC c.(3715-3717)cgafs p.R1239fs SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000524452.1_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 400 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CCCTGTCCTCTGGGGGGGTTAC 0.480 7 179 --- --- --- --- RDX 5962 broad.mit.edu 37 11 110104136 110104137 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:110104136_110104137insG ENST00000343115.4 - 13 1731_1732 c.1412_1413insC c.(1411-1413)cccfs p.P471fs RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 471 Glu-rich.|Poly-Pro. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) GTGGAGGTGGAGGGGGGGCAGA 0.431 10 319 --- --- --- --- NCAM1 4684 broad.mit.edu 37 11 113076860 113076861 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:113076860_113076861insG ENST00000316851.7 + 4 556_557 c.556_557insG c.(556-558)gggfs p.G186fs NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 196 Ig-like C2-type 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AATCCTGGCACGGGGGGAGATC 0.495 16 787 --- --- --- --- CCDC153 283152 broad.mit.edu 37 11 119061042 119061043 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:119061042_119061043insG ENST00000503566.2 - 6 598_599 c.599_600insC c.(598-600)cggfs p.R200fs CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs Q494R4 CC153_HUMAN coiled-coil domain containing 153 200 lung(3)|stomach(1) 4 TCAAAGATCCAGGGGGGGTGAG 0.569 9 233 --- --- --- --- ROBO4 54538 broad.mit.edu 37 11 124756678 124756679 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:124756678_124756679insG ENST00000306534.3 - 16 2960_2961 c.2475_2476insC c.(2473-2478)ccccacfs p.H826fs ROBO4_ENST00000533054.1_Frame_Shift_Ins_p.H681fs|RP11-664I21.5_ENST00000524453.1_RNA NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 826 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CCATAGGTGGTGGGGGGTGAAG 0.599 7 223 --- --- --- --- ADAMTS8 11095 broad.mit.edu 37 11 130275723 130275724 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr11:130275723_130275724insG ENST00000257359.6 - 9 3105_3106 c.2399_2400insC c.(2398-2400)caafs p.Q800fs NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 800 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 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;0.039)|Lung(977;0.213) ATTTGACTTTTGGGGGGAAGAC 0.579 16 1001 --- --- --- --- CD4 920 broad.mit.edu 37 12 6924042 6924043 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:6924042_6924043insG ENST00000011653.4 + 5 749_750 c.491_492insG c.(490-492)cggfs p.R164fs CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 164 Ig-like C2-type 1. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) AAAAACATACAGGGGGGGAAGA 0.564 18 318 --- --- --- --- GNB3 2784 broad.mit.edu 37 12 6952601 6952602 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:6952601_6952602insG ENST00000229264.3 + 7 747_748 c.342_343insG c.(340-345)tgggggfs p.WG114fs GNB3_ENST00000435982.2_Frame_Shift_Ins_p.WG114fs NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 114 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity p.G115W(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 TTGTGGCATGTGGGGGGCTGGA 0.584 7 157 --- --- --- --- C1S 716 broad.mit.edu 37 12 7177938 7177939 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:7177938_7177939insC ENST00000406697.1 + 15 2678_2679 c.2050_2051insC c.(2050-2052)cccfs p.P684fs C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs|C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs P09871 C1S_HUMAN complement component 1, s subcomponent 684 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GGAAAATAGCACCCCCCGTGAG 0.490 8 471 --- --- --- --- HEBP1 50865 broad.mit.edu 37 12 13142224 13142225 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:13142224_13142225insC ENST00000536942.1 - 2 353_354 c.203_204insG c.(202-204)gacfs p.D68fs HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs Q9NRV9 HEBP1_HUMAN heme binding protein 1 68 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TGTCATTGGTGCCCCCCGCATA 0.554 8 668 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 14019043 14019044 + Frame_Shift_Ins INS - - G rs77738206 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:14019043_14019044insG ENST00000279593.3 - 2 308_309 c.99_100insC c.(97-102)ccgcatfs p.H34fs NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 34 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCCAATGCTGGGGGGGCTCT 0.589 7 120 --- --- --- --- WBP11 51729 broad.mit.edu 37 12 14940365 14940366 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:14940365_14940366insG ENST00000261167.2 - 12 1792_1793 c.1559_1560insC c.(1558-1560)cggfs p.R520fs WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 520 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding p.G521fs*28(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 GGAACAGCCCAGGGGGGGCAGG 0.550 21 239 --- --- --- --- PCBP2 5094 broad.mit.edu 37 12 53856277 53856278 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:53856277_53856278insC ENST00000603815.1 + 8 867_868 c.517_518insC c.(517-519)cccfs p.P173fs PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 173 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 TCTCTCCCAGTCCCCCCCGAAG 0.500 10 198 --- --- --- --- PDE1B 5153 broad.mit.edu 37 12 54971059 54971060 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:54971059_54971060insC ENST00000243052.3 + 15 1994_1995 c.1558_1559insC c.(1558-1560)cccfs p.P520fs PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 520 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TGAAGAAGAGGCCCCCCCATCC 0.559 27 422 --- --- --- --- NEUROD4 58158 broad.mit.edu 37 12 55421127 55421128 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:55421127_55421128insC ENST00000242994.3 + 2 1282_1283 c.904_905insC c.(904-906)cccfs p.P302fs NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 302 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 TCAGGCTGGTACCCCCCGTTAT 0.465 15 1920 --- --- --- --- DGKA 1606 broad.mit.edu 37 12 56347513 56347514 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:56347513_56347514insC ENST00000331886.5 + 24 2623_2624 c.2169_2170insC c.(2167-2172)ccccccfs p.PP723fs DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 723 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) TCATGGGCCCACCCCCCCGCTC 0.579 9 213 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56559112 56559113 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:56559112_56559113insG ENST00000394023.3 - 27 3326_3327 c.3221_3222insC c.(3220-3222)cggfs p.R1074fs SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1043fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1074fs|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1043 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CATGGGGTCCAGGGGGGGGAAC 0.574 14 220 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57572241 57572242 + Frame_Shift_Ins INS - - G rs139915490 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:57572241_57572242insG ENST00000243077.3 + 27 4927_4928 c.4461_4462insG c.(4459-4464)taggggfs p.*G1487fs NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1487 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACGCTGTACGGGGGGGAGGT 0.589 10 165 --- --- --- --- DCTN2 10540 broad.mit.edu 37 12 57927805 57927806 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:57927805_57927806insG ENST00000548249.1 - 7 866_867 c.599_600insC c.(598-600)cgafs p.R200fs DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 200 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 GGCTGCTATCTGGGGGGGTCCC 0.500 7 213 --- --- --- --- CYP27B1 1594 broad.mit.edu 37 12 58160653 58160654 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:58160653_58160654insC ENST00000228606.4 - 1 380_381 c.171_172insG c.(169-174)ggtgtcfs p.V58fs RP11-571M6.13_ENST00000546609.1_RNA NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 58 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) AGCCTCGACAGCCCCCCCTTGC 0.599 8 104 --- --- --- --- METTL21B 25895 broad.mit.edu 37 12 58174036 58174037 + Splice_Site INS - - G rs143311691 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:58174036_58174037insG ENST00000333012.5 + 4 475 c.e4-1 METTL21B_ENST00000551420.1_Splice_Site|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000300209.8_Splice_Site|METTL21B_ENST00000548256.1_Splice_Site NM_206914.1 NP_996797.1 Q96AZ1 MT21B_HUMAN methyltransferase like 21B integral to membrane|intracellular methyltransferase activity endometrium(1)|lung(1) 2 CCTCTCTCTCAGGGGGGGATGT 0.584 7 186 --- --- --- --- MDM2 4193 broad.mit.edu 37 12 69233089 69233090 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:69233089_69233090insC ENST00000462284.1 + 11 1256_1257 c.954_955insC c.(952-957)aaccccfs p.NP318fs MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 312 Necessary for interaction with USP2.|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATGAAATGAATCCCCCCCTTCC 0.426 A """sarcoma, glioma, colorectal, other""" 11 346 --- --- --- --- BEST3 144453 broad.mit.edu 37 12 70049361 70049362 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:70049361_70049362insG ENST00000330891.5 - 10 1558_1559 c.1332_1333insC c.(1330-1335)ccgggcfs p.PG444fs BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 444 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GGTGAGGCCCTGGGGGGGTTTC 0.594 14 282 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78400511 78400512 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:78400511_78400512insC ENST00000397909.2 + 8 1366_1367 c.1193_1194insC c.(1192-1194)cccfs p.P398fs NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs Q8IVL0 NAV3_HUMAN neuron navigator 3 398 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACTGCTTTACGCCCCCCGCAGC 0.495 HNSCC(70;0.22) 10 217 --- --- --- --- USP30 84749 broad.mit.edu 37 12 109495864 109495865 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:109495864_109495865insC ENST00000257548.5 + 3 420_421 c.327_328insC c.(325-330)gaccccfs p.DP109fs USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 109 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 ATCAGAAGGAGCCCCCCTCACA 0.485 10 1062 --- --- --- --- RASAL1 8437 broad.mit.edu 37 12 113565942 113565943 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:113565942_113565943insC ENST00000546530.1 - 4 448_449 c.163_164insG c.(163-165)ggafs p.G55fs RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.G55fs NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 55 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 CGTGTACTCCTCCCCCCAGAAG 0.614 10 662 --- --- --- --- SLC8B1 80024 broad.mit.edu 37 12 113759072 113759073 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:113759072_113759073insC ENST00000552014.1 - 4 752_753 c.237_238insG c.(235-240)ggacctfs p.P80fs SLC24A6_ENST00000202831.3_Frame_Shift_Ins_p.P80fs|SLC24A6_ENST00000546737.1_Frame_Shift_Ins_p.P80fs|SLC24A6_ENST00000553238.1_5'UTR Q6J4K2 NCKX6_HUMAN 80 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 TAGTCCAGGTACCCCCCATCAC 0.624 7 693 --- --- --- --- KSR2 283455 broad.mit.edu 37 12 117977604 117977605 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:117977604_117977605insG ENST00000425217.1 - 10 1573_1574 c.1519_1520insC c.(1519-1521)cccfs p.P507fs KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 536 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACTAGGAGGGAGGGGGGGTGCT 0.634 8 182 --- --- --- --- MSI1 4440 broad.mit.edu 37 12 120800902 120800903 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr12:120800902_120800903insC ENST00000257552.2 - 6 433_434 c.345_346insG c.(343-348)ggtgtcfs p.V116fs NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 116 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCACCGACAGCCCCCCCACAA 0.564 19 191 --- --- --- --- MRPS31 10240 broad.mit.edu 37 13 41340958 41340959 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr13:41340958_41340959insG ENST00000323563.6 - 2 399_400 c.363_364insC c.(361-366)ccaaagfs p.PK121fs NM_005830.3 NP_005821.2 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 121 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) GGTCTTCTTTTGGGGGGCTTTG 0.366 7 206 --- --- --- --- KBTBD6 89890 broad.mit.edu 37 13 41705321 41705322 + Frame_Shift_Ins INS - - C rs147771080 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr13:41705321_41705322insC ENST00000379485.1 - 1 1560_1561 c.1326_1327insG c.(1324-1329)gggagafs p.R443fs KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 443 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ATAGGGTCTCGCCCCCCCAAAA 0.470 16 210 --- --- --- --- LMO7 4008 broad.mit.edu 37 13 76375005 76375006 + Frame_Shift_Ins INS - - G rs74596180 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr13:76375005_76375006insG ENST00000357063.3 + 8 2064_2065 c.804_805insG c.(802-807)agggggfs p.RG268fs LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs Q8WWI1 LMO7_HUMAN LIM domain 7 268 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TCACGTTGAGAGGGGGGCGTGA 0.450 7 438 --- --- --- --- OR4M1 441670 broad.mit.edu 37 14 20248930 20248931 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:20248930_20248931insG ENST00000315957.4 + 1 530_531 c.449_450insG c.(448-450)aggfs p.R150fs NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTCTCCTGGATGGGGGGCTTCA 0.505 8 733 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20852646 20852647 + Frame_Shift_Ins INS - - C rs144584331 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:20852646_20852647insC ENST00000262715.5 - 23 3282_3283 c.3242_3243insG c.(3241-3243)ggtfs p.G1081fs TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.V1082fs*47(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CAGCTGCCACACCCCCCCACTC 0.584 11 214 --- --- --- --- SUPT16H 11198 broad.mit.edu 37 14 21820849 21820850 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:21820849_21820850insG ENST00000216297.2 - 26 3464_3465 c.3126_3127insC c.(3124-3129)ccagaafs p.E1043fs NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 1043 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CTCTTTTTCTTGGGGGGTGCAG 0.480 10 491 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23549377 23549378 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:23549377_23549378insG ENST00000262710.1 - 6 1667_1668 c.1340_1341insC c.(1339-1341)ggtfs p.G447fs ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 447 A -> P (in dbSNP:rs941719). apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GAATGAGGACAGCGGGGGCTGG 0.500 8 166 --- --- --- --- KCNH5 27133 broad.mit.edu 37 14 63174302 63174303 + Frame_Shift_Ins INS - - G rs35940222 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:63174302_63174303insG ENST00000322893.7 - 11 3158_3159 c.2890_2891insC c.(2890-2892)gatfs p.D964fs KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 964 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACATGGTATCTGGGGGGGTACT 0.391 9 262 --- --- --- --- GALNT16 57452 broad.mit.edu 37 14 69800299 69800300 + Frame_Shift_Ins INS - - G rs144140025 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:69800299_69800300insG ENST00000337827.4 + 9 1276_1277 c.949_950insG c.(949-951)gggfs p.G317fs GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GATGGACATCTGGGGGGGAGAG 0.470 14 196 --- --- --- --- YLPM1 56252 broad.mit.edu 37 14 75248518 75248519 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr14:75248518_75248519insC ENST00000325680.7 + 4 1896_1897 c.1772_1773insC c.(1771-1773)cccfs p.P591fs YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs|YLPM1_ENST00000238571.3_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCACCAGTTCTCCCCCCACCTT 0.599 8 232 --- --- --- --- OR4M2 390538 broad.mit.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr15:22369023_22369024insG ENST00000332663.2 + 1 546_547 c.448_449insG c.(448-450)gggfs p.G150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R150M(2)|p.R150W(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTCTCCTGGAGGGGGGGCTTC 0.500 17 452 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 34015000 34015001 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr15:34015000_34015001insG ENST00000389232.4 + 44 6774_6775 c.6704_6705insG c.(6703-6705)gggfs p.G2235fs RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2235 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGCGGGGTGAGGGGGGAAACG 0.584 9 533 --- --- --- --- BMF 90427 broad.mit.edu 37 15 40396470 40396471 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr15:40396470_40396471insG ENST00000354670.4 - 4 597_598 c.363_364insC c.(361-366)ccaaggfs p.R122fs BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.R122fs|BMF_ENST00000397573.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000220446.4_Intron|BMF_ENST00000561360.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561282.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000559701.1_Intron NM_001003940.1 NP_001003940.1 Q96LC9 BMF_HUMAN Bcl2 modifying factor 122 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|mitochondrial outer membrane|myosin complex|plasma membrane protein binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 6 all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516) CACTGCCCTTCGGGGGGCTGCT 0.569 8 254 --- --- --- --- SORD 6652 broad.mit.edu 37 15 45353365 45353366 + Frame_Shift_Ins INS - - C rs11542063 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr15:45353365_45353366insC ENST00000267814.9 + 4 546_547 c.366_367insC c.(364-369)acccccfs p.TP122fs SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs NM_003104.5 NP_003095.2 Q00796 DHSO_HUMAN sorbitol dehydrogenase 122 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(4) 9 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) TCTGTGCCACGCCCCCCGATGA 0.530 7 270 --- --- --- --- IGF1R 3480 broad.mit.edu 37 15 99251108 99251109 + Frame_Shift_Ins INS - - G rs121912426 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr15:99251108_99251109insG ENST00000268035.6 + 2 1023_1024 c.412_413insG c.(412-414)gggfs p.G138fs IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 138 R -> Q (in IGF1RES; has decreased IGF1R function). anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GAACATTACTCGGGGGGCCATC 0.510 7 268 --- --- --- --- NOMO1 23420 broad.mit.edu 37 16 14980694 14980695 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:14980694_14980695insC ENST00000287667.7 + 28 3470_3471 c.3299_3300insC c.(3298-3300)tccfs p.S1100fs NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1100 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TTCTTCCATTTCCCCCCACTGC 0.475 18 1091 --- --- --- --- ACSM2A 123876 broad.mit.edu 37 16 20489924 20489925 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:20489924_20489925insC ENST00000573854.1 + 10 1320_1321 c.1206_1207insC c.(1204-1209)ctccccfs p.LP402fs ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 402 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GCAACGTCCTGCCCCCCGGCAC 0.505 7 255 --- --- --- --- ACSM2B 348158 broad.mit.edu 37 16 20556547 20556548 + Frame_Shift_Ins INS - - G rs146499503 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:20556547_20556548insG ENST00000329697.6 - 10 1380_1381 c.1212_1213insC c.(1210-1215)ccgcacfs p.H405fs ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 405 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCTTCTGTGCCGGGGGGCAGGA 0.515 7 292 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 20966297 20966298 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:20966297_20966298insG ENST00000261383.3 - 55 10907_10908 c.10908_10909insC c.(10906-10911)ccaaggfs p.R3637fs DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3637 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity 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) CGGAGCCCTTTGGGGGGCTCAT 0.510 7 342 --- --- --- --- POLR3E 55718 broad.mit.edu 37 16 22339833 22339834 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:22339833_22339834insC ENST00000299853.5 + 19 2036_2037 c.1869_1870insC c.(1867-1872)ttccccfs p.FP623fs POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 623 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) TTGGTCAGTTTCCCCCCCAGAC 0.574 7 138 --- --- --- --- ARHGAP17 55114 broad.mit.edu 37 16 24942179 24942180 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:24942179_24942180insG ENST00000289968.6 - 19 2509_2510 c.2440_2441insC c.(2440-2442)accfs p.T814fs ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs|ARHGAP17_ENST00000441763.2_3'UTR NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 814 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) ACCAGGAGGTTGGGGGGGTGGG 0.574 10 161 --- --- --- --- SEZ6L2 26470 broad.mit.edu 37 16 29891248 29891249 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:29891248_29891249insG ENST00000308713.5 - 9 2036_2037 c.1509_1510insC c.(1507-1512)ccatgcfs p.C504fs SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 504 Sushi 2. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCGATGGCATTGGGGGGCCCAG 0.604 7 545 --- --- --- --- TBX6 6911 broad.mit.edu 37 16 30100077 30100078 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:30100077_30100078insC ENST00000553607.1 - 4 1397_1398 c.704_705insG c.(703-705)gatfs p.D235fs TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs O95947 TBX6_HUMAN T-box 6 235 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 AGGAGGCCATGCCCCCCCAGTG 0.629 11 165 --- --- --- --- ITGAD 3681 broad.mit.edu 37 16 31422475 31422476 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:31422475_31422476insC ENST00000389202.2 + 13 1484_1485 c.1435_1436insC c.(1435-1437)cccfs p.P479fs NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 479 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CCTCATTGGGGCCCCCCATTAC 0.649 7 671 --- --- --- --- ITGAD 3681 broad.mit.edu 37 16 31422532 31422533 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:31422532_31422533insG ENST00000389202.2 + 13 1541_1542 c.1492_1493insG c.(1492-1494)gggfs p.G498fs NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 498 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCCCTTGCCTAGGGGGGTGAGT 0.629 7 823 --- --- --- --- RBL2 5934 broad.mit.edu 37 16 53504347 53504348 + Frame_Shift_Ins INS - - G rs67487800 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:53504347_53504348insG ENST00000262133.6 + 16 2435_2436 c.2298_2299insG c.(2296-2301)gtggggfs p.VG766fs RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 766 Pocket; binds E1A.|Spacer. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AAGTCAATGTTGGGGGGCAGGC 0.480 10 158 --- --- --- --- C16orf3 750 broad.mit.edu 37 16 90095545 90095546 + In_Frame_Ins INS - - CTACGGGGCAGCCTATGGGGCAGG rs11274945 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr16:90095545_90095546insCTACGGGGCAGCCTATGGGGCAGG ENST00000408886.2 - 1 763_764 c.205_206insCCTGCCCCATAGGCTGCCCCGTAG c.(205-207)ctc>CCTGCCCCATAGGCTGCCCCGTAGctc p.68_69insPAP*AAP* GAS8_ENST00000540721.1_Intron|GAS8_ENST00000268699.4_Intron|GAS8_ENST00000536122.1_Intron NM_001214.3 NP_001205.3 O95177 CP003_HUMAN chromosome 16 open reading frame 3 76 large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239) BRCA - Breast invasive adenocarcinoma(80;0.0272) GGCCATGGAGCctacggggcag 0.658 3 2 --- --- --- --- PAFAH1B1 5048 broad.mit.edu 37 17 2583499 2583500 + Frame_Shift_Ins INS - - G rs113994201 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:2583499_2583500insG ENST00000397195.5 + 10 1495_1496 c.1044_1045insG c.(1042-1047)tcggggfs p.SG348fs PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 348 Interaction with dynein and dynactin. acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 TGTTCCATTCTGGGGGGAAGTT 0.401 10 589 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7496121 7496122 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:7496121_7496122insG ENST00000250113.7 - 14 1953_1954 c.1619_1620insC c.(1618-1620)cgcfs p.R540fs NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 540 cytosolic large ribosomal subunit protein binding|RNA binding p.P540fs*32(1)|p.A541fs*14(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) TGGCACTTGCTGGGGGGGGTTC 0.609 7 54 --- --- --- --- ARHGEF15 22899 broad.mit.edu 37 17 8222137 8222138 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:8222137_8222138insG ENST00000361926.3 + 12 2052_2053 c.1942_1943insG c.(1942-1944)gggfs p.G648fs ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs|ARHGEF15_ENST00000582060.1_3'UTR NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 648 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 AGGGTGCCGGAGGGGGGGCGTG 0.634 9 184 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29576097 29576098 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:29576097_29576098insC ENST00000358273.4 + 30 4453_4454 c.4070_4071insC c.(4069-4071)tccfs p.S1357fs NF1_ENST00000356175.3_Frame_Shift_Ins_p.S1357fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1357 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCCTCAGAATTCCCCCCTCAAC 0.406 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 7 255 --- --- --- --- RAB11FIP4 84440 broad.mit.edu 37 17 29758897 29758898 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:29758897_29758898insG ENST00000325874.8 + 2 455_456 c.226_227insG c.(226-228)gggfs p.G76fs NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 76 EF-hand. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding p.?(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GGACTTTTGCCGGGGGGTGTTC 0.579 10 231 --- --- --- --- TAF15 8148 broad.mit.edu 37 17 34171885 34171886 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:34171885_34171886insG ENST00000588240.1 + 15 1697_1698 c.1582_1583insG c.(1582-1584)gggfs p.G528fs TAF15_ENST00000311979.3_Frame_Shift_Ins_p.G525fs|TAF15_ENST00000592237.1_Splice_Site_p.TG332_splice NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 528 21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) agACAGAAGCCGGGGGGGCTAT 0.609 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 7 127 --- --- --- --- ACACA 31 broad.mit.edu 37 17 35600370 35600371 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:35600370_35600371insG ENST00000353139.5 - 22 3328_3329 c.2847_2848insC c.(2845-2850)ccatgtfs p.C950fs ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 913 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTCTCCACATTGGGGGGAATGC 0.470 9 675 --- --- --- --- EME1 146956 broad.mit.edu 37 17 48458137 48458138 + Frame_Shift_Ins INS - - T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:48458137_48458138insT ENST00000393271.2 + 9 1671_1672 c.1589_1590insT c.(1588-1590)tttfs p.F530fs EME1_ENST00000338165.4_Frame_Shift_Ins_p.F517fs|EME1_ENST00000511648.2_Frame_Shift_Ins_p.F530fs NM_001166131.1 NP_001159603.1 Q96AY2 EME1_HUMAN essential meiotic structure-specific endonuclease 1 517 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) TATCAGCAGTGTTTTTCGGATA 0.515 Direct reversal of damage;Homologous recombination 72 137 --- --- --- --- CA10 56934 broad.mit.edu 37 17 50008356 50008357 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:50008356_50008357insC ENST00000451037.2 - 3 1212_1213 c.272_273insG c.(271-273)gagfs p.E91fs CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 91 brain development p.G91V(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TTACCTTCCTGCCCCCCGTGTT 0.490 13 628 --- --- --- --- RNF43 54894 broad.mit.edu 37 17 56435160 56435161 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:56435160_56435161insC ENST00000584437.1 - 8 3931_3932 c.1976_1977insG c.(1975-1977)gccfs p.A659fs RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs Q68DV7 RNF43_HUMAN ring finger protein 43 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCCT 0.599 7 221 --- --- --- --- MARCH10 162333 broad.mit.edu 37 17 60814265 60814266 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:60814265_60814266insC ENST00000544856.2 - 7 1338_1339 c.960_961insG c.(958-963)ggcatcfs p.I321fs MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 322 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GGGGTCGATGTCCCCCCAAATC 0.460 10 823 --- --- --- --- AXIN2 8313 broad.mit.edu 37 17 63532584 63532585 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:63532584_63532585insC ENST00000307078.5 - 8 2307_2308 c.1994_1995insG c.(1993-1995)gaafs p.E665fs AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 665 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GCCCGCTGTTGCCCCCCCACAG 0.658 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 9 33 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67083603 67083604 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:67083603_67083604insG ENST00000284425.2 - 29 3883_3884 c.3709_3710insC c.(3709-3711)aagfs p.K1237fs ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1237 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATCTCTACTTTGGGGGGAAATT 0.376 13 778 --- --- --- --- CYTH1 9267 broad.mit.edu 37 17 76677055 76677056 + Frame_Shift_Ins INS - - T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr17:76677055_76677056insT ENST00000589297.1 - 12 1475_1476 c.783_784insA c.(781-786)aacaaafs p.NK261fs CYTH1_ENST00000585509.1_Frame_Shift_Ins_p.NK261fs|CYTH1_ENST00000361101.4_Frame_Shift_Ins_p.NK320fs|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000446868.3_Frame_Shift_Ins_p.NK320fs|CYTH1_ENST00000591455.1_Frame_Shift_Ins_p.NK319fs|CYTH1_ENST00000589296.1_Intron Q15438 CYH1_HUMAN cytohesin 1 320 PH. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 ATACTCACTGGTTTTTTGGAGT 0.396 8 436 --- --- --- --- SH2D3A 10045 broad.mit.edu 37 19 6755179 6755180 + Frame_Shift_Ins INS - - G rs139813452 byFrequency TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:6755179_6755180insG ENST00000245908.6 - 5 912_913 c.643_644insC c.(643-645)gacfs p.D215fs SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 215 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGAGGGTGTCCGGGGGGGCTTC 0.653 15 415 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:9064309_9064310insG ENST00000397910.4 - 3 23339_23340 c.23136_23137insC c.(23134-23139)ccctccfs p.S7713fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7715 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAGGGGAGAGGGGGGGATAT 0.530 7 293 --- --- --- --- OR7D2 162998 broad.mit.edu 37 19 9297034 9297034 + Frame_Shift_Del DEL T T - TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:9297034delT ENST00000344248.2 + 1 756 c.577delT c.(577-579)tcfs p.F193fs NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 193 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 CTCTGATACCTTCCTGAACAG 0.418 87 495 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10291083 10291084 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:10291083_10291084insG ENST00000340748.4 - 4 622_623 c.387_388insC c.(385-390)ccaaccfs p.T130fs DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 130 Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GAAAGGGGTTTGGGGGGGCTGT 0.495 11 208 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12155624 12155625 + Frame_Shift_Ins INS - - T TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:12155624_12155625insT ENST00000602107.1 - 5 731_732 c.732_733insA c.(730-735)aacctafs p.NL244fs ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 197 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 CATTCATAGGGTTTTTTTGCAG 0.396 10 369 --- --- --- --- FXYD7 53822 broad.mit.edu 37 19 35642251 35642251 + Frame_Shift_Del DEL G G - TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:35642251delG ENST00000588265.1 + 3 211 c.156delG c.(154-156)ctfs p.L52fs FXYD7_ENST00000586063.1_Intron|FXYD7_ENST00000270310.2_Intron P58549 FXYD7_HUMAN FXYD domain containing ion transport regulator 7 46 integral to membrane ion channel activity NS(1)|endometrium(1)|lung(1) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) ACCCATTCCTGGGCTGCCTCA 0.547 53 212 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899415 38899416 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:38899415_38899416insG ENST00000252530.5 + 8 962_963 c.943_944insG c.(943-945)gggfs p.G315fs FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.G233fs|FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.R181fs NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 315 p.R315L(1) endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGTTCCAGACCGGGGGGGCCGC 0.564 8 75 --- --- --- --- FBL 2091 broad.mit.edu 37 19 40325192 40325193 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:40325192_40325193insG ENST00000221801.3 - 9 1064_1065 c.951_952insC c.(949-954)ccaggtfs p.G318fs FBL_ENST00000593503.1_5'UTR NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 318 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) TTCTTCACCTTGGGGGGTGGCC 0.505 9 429 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43439519 43439520 + RNA INS - - C rs59911953 by1000genomes TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:43439519_43439520insC ENST00000446844.3 - 0 520 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) AATGACCCCTGCCCCCCAACAC 0.515 15 641 --- --- --- --- CARD8 22900 broad.mit.edu 37 19 48737669 48737670 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:48737669_48737670insC ENST00000391898.3 - 3 382_383 c.340_341insG c.(340-342)catfs p.H114fs CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 0 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) CCTGGGAATGTCCCCCCCAGAT 0.436 12 178 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243063 50243064 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:50243063_50243064insG ENST00000246801.3 - 11 1830_1831 c.1748_1749insC c.(1747-1749)caafs p.Q583fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 583 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCCCTGTTTTGGGGGGGTTCC 0.545 12 288 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54656634 54656635 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:54656634_54656635insC ENST00000406403.1 + 15 3538_3539 c.1935_1936insC c.(1933-1938)acccccfs p.TP645fs CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.TP464fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.TP645fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 645 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTGTCCGACGCCCCCCTACCA 0.579 7 218 --- --- --- --- NLRP8 126205 broad.mit.edu 37 19 56487556 56487557 + Frame_Shift_Ins INS - - A TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr19:56487556_56487557insA ENST00000291971.3 + 8 2834_2835 c.2763_2764insA c.(2761-2766)tgaaaafs p.*K921fs NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.*K902fs NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 921 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTGCGCTCTGTAAAAATAAAAC 0.411 34 146 --- --- --- --- NRSN2 80023 broad.mit.edu 37 20 333922 333923 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:333922_333923insC ENST00000382291.3 + 4 498_499 c.258_259insC c.(256-261)gtccccfs p.VP86fs NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 86 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) GCTATGCAGTGCCCCCCAAGCT 0.644 7 328 --- --- --- --- FERMT1 55612 broad.mit.edu 37 20 6091014 6091015 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:6091014_6091015insG ENST00000217289.4 - 5 1464_1465 c.676_677insC c.(676-678)gtcfs p.V226fs FERMT1_ENST00000536936.1_Intron NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 226 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TTCTGGGGACTGGGGGGGTTGG 0.530 8 205 --- --- --- --- CST4 1472 broad.mit.edu 37 20 23667825 23667826 + Frame_Shift_Ins INS - - C rs140501583 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:23667825_23667826insC ENST00000217423.3 - 2 311_312 c.241_242insG c.(241-243)gaafs p.E81fs NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S 81 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) GAAGTAATTCACCCCCCCAAAG 0.554 19 239 --- --- --- --- CST1 1469 broad.mit.edu 37 20 23729753 23729754 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:23729753_23729754insC ENST00000304749.2 - 2 311_312 c.241_242insG c.(241-243)gaafs p.E81fs CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 81 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) GAAGTAATTCACCCCCCCAACG 0.554 17 212 --- --- --- --- TM9SF4 9777 broad.mit.edu 37 20 30737490 30737491 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:30737490_30737491insC ENST00000217315.5 + 10 1297_1298 c.957_958insC c.(955-960)agccccfs p.SP319fs TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 336 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACGTCTTCAGGCCCCCCCAGTA 0.604 7 78 --- --- --- --- PLCG1 5335 broad.mit.edu 37 20 39798133 39798134 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:39798133_39798134insG ENST00000373272.2 + 23 3022_3023 c.2617_2618insG c.(2617-2619)gggfs p.G873fs PLCG1_ENST00000373271.1_Frame_Shift_Ins_p.G873fs|PLCG1_ENST00000244007.3_Frame_Shift_Ins_p.G873fs NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 873 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity p.R873Q(1) breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) GGACTTGCTGCGGGGGGTCTTG 0.540 9 213 --- --- --- --- LPIN3 64900 broad.mit.edu 37 20 39977798 39977799 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:39977798_39977799insC ENST00000373257.3 + 5 715_716 c.624_625insC c.(622-627)tgccccfs p.CP208fs NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 208 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) ATGGCGAGTGGCCCCCCCAGGC 0.540 13 129 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 34 688 --- --- --- --- GNAS 2778 broad.mit.edu 37 20 57478756 57478757 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:57478756_57478757insC ENST00000371100.4 + 5 2823_2824 c.2271_2272insC c.(2269-2274)gtccccfs p.VP757fs GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 114 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.V760fs*23(1)|p.V117fs*23(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCAACCTGGTGCCCCCCGTGGA 0.559 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 8 204 --- --- --- --- MIR646HG 284757 broad.mit.edu 37 20 58889651 58889662 + RNA DEL CATTCTCCCATT CATTCTCCCATT - rs117834183 by1000genomes TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:58889651_58889662delCATTCTCCCATT ENST00000432910.1 + 0 332 NR_046099.1 tccatccatccattctcccattcatccatcct 0.538 2 4 --- --- --- --- OSBPL2 9885 broad.mit.edu 37 20 60854257 60854258 + Frame_Shift_Ins INS - - C rs79735057 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr20:60854257_60854258insC ENST00000313733.3 + 7 738_739 c.536_537insC c.(535-537)cccfs p.P179fs OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 179 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GTCAGTCACCACCCCCCCATCA 0.465 11 173 --- --- --- --- P2RX6P 440799 broad.mit.edu 37 22 21399220 21399221 + RNA INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr22:21399220_21399221insC ENST00000439119.1 - 0 51 NR_002829.1 TCTGCAGGGCGCCCCCCCACCA 0.599 18 181 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42271636 42271637 + Frame_Shift_Ins INS - - C rs79727196 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr22:42271636_42271637insC ENST00000361204.4 + 7 1460_1461 c.1294_1295insC c.(1294-1296)cccfs p.P432fs NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 432 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CCTTCTGATGTCCCCCCCAGCC 0.520 8 214 --- --- --- --- TBC1D22A 25771 broad.mit.edu 37 22 47188443 47188444 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chr22:47188443_47188444insC ENST00000337137.4 + 2 255_256 c.89_90insC c.(88-90)cccfs p.P30fs TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000406733.1_5'UTR NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 30 intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GGTGCCCAGCACCCCCCCTTTG 0.569 12 191 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350711 50350713 + In_Frame_Del DEL TCC TCC - rs6614551 TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chrX:50350711_50350713delTCC ENST00000376020.2 - 6 3454_3456 c.3429_3431delGGA c.(3427-3432)gaa>ga p.EE1149del SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1149 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ctcttcctcttcctcttcttctt 0.547 8 25 --- --- --- --- IL2RG 3561 broad.mit.edu 37 X 70327613 70327614 + Frame_Shift_Ins INS - - G TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chrX:70327613_70327614insG ENST00000374202.2 - 8 1173_1174 c.1082_1083insC c.(1081-1083)ctgfs p.L361fs IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 361 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) GGGTGTAACATGGGGGGGCCCA 0.584 Severe Combined Immunodeficiency, X-linked 7 77 --- --- --- --- KIAA2022 340533 broad.mit.edu 37 X 73963268 73963269 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chrX:73963268_73963269insC ENST00000373468.1 - 3 1774_1775 c.1123_1124insG c.(1123-1125)ggafs p.G375fs KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs Q5QGS0 K2022_HUMAN KIAA2022 375 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTTATCTTCCTCCCCCCAGATG 0.475 8 319 --- --- --- --- ZCCHC12 170261 broad.mit.edu 37 X 117960135 117960136 + Frame_Shift_Ins INS - - C TCGA-A3-3372-01A-01W-0886-08 TCGA-A3-3372-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 414aeaee-f536-4394-92e6-6a1c8dad8aca eabe41f2-bf96-48bd-98c1-9a001b92bf85 g.chrX:117960135_117960136insC ENST00000310164.2 + 4 1435_1436 c.928_929insC c.(928-930)cccfs p.P310fs NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 GGTCATTGATTCCCCCCACAAT 0.564 7 232 --- --- --- ---