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 CYP21A2 1589 broad.mit.edu 37 6 32008267 32008267 + Missense_Mutation SNP C C T TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr6:32008267C>T ENST00000418967.2 + 8 1182 c.1024C>T c.(1024-1026)Cgg>Tgg p.R342W CYP21A2_ENST00000435122.2_Missense_Mutation_p.R312W NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 341 Steroid-binding (By similarity). glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding p.R342W(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 GGACCGTGCACGGCTGCCCTT 0.667000 7 36 0 0 0.278610 0 0 HMGCR 3156 broad.mit.edu 37 5 74646121 74646121 + Silent SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr5:74646121G>A ENST00000287936.4 + 8 858 c.702G>A c.(700-702)caG>caA p.Q234Q HMGCR_ENST00000511206.1_Silent_p.Q234Q|HMGCR_ENST00000343975.5_Silent_p.Q234Q NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 234 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding p.Q234Q(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) CAATTTGGCAGCTCAGCCATT 0.413000 3 101 0 0 0.115264 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497834 1497834 + Silent SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr8:1497834G>A ENST00000421627.2 + 2 1109 c.975G>A c.(973-975)ccG>ccA p.P325P NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 404 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding p.P369P(1)|p.P347P(1) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCCTGAGGCCGTGCCACTACC 0.597000 4 4 0 0 0.150653 0 0 PCDHGA4 0 broad.mit.edu 37 5 140735373 140735373 + Silent SNP C C T TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr5:140735373C>T ENST00000571252.1 + 1 606 c.606C>T c.(604-606)cgC>cgT p.R202R PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTAGATCGCGAGGAAGAGG 0.552000 6 21 0 0 0.278610 0 0 ATP8B4 79895 broad.mit.edu 37 15 50190384 50190384 + Missense_Mutation SNP A A G TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr15:50190384A>G ENST00000284509.6 - 22 2495 c.2354T>C c.(2353-2355)gTa>gCa p.V785A ATP8B4_ENST00000559829.1_Missense_Mutation_p.V785A NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 785 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.V785A(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GCAGCAAATTACAGTCTTACA 0.423000 4 154 0 0 0.150653 0 0 UTP20 27340 broad.mit.edu 37 12 101764854 101764854 + Silent SNP C C T TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr12:101764854C>T ENST00000261637.4 + 51 6880 c.6706C>T c.(6706-6708)Ctg>Ttg p.L2236L NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2236 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding p.L2236L(1) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 ATCAAGAAAGCTGTTGGTCCC 0.448000 56 218 0 0 0.870114 0 0 EBLN2 55096 broad.mit.edu 37 3 73111759 73111759 + Missense_Mutation SNP C C T TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr3:73111759C>T ENST00000533473.1 + 1 950 c.527C>T c.(526-528)gCc>gTc p.A176V PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron NM_018029.3 NP_060499.3 Q6P2I7 EBLN2_HUMAN endogenous Bornavirus-like nucleoprotein 2 176 A -> G (in Ref. 1; AAK83528). protein binding p.A176V(1) endometrium(1)|large_intestine(3)|lung(1)|prostate(1) 6 AACTTTATTGCCCTTGAGAAG 0.463000 4 131 0 0 0.184627 0 0 ANO7 50636 broad.mit.edu 37 2 242138766 242138766 + Silent SNP C C T TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr2:242138766C>T ENST00000274979.8 + 5 610 c.507C>T c.(505-507)taC>taT p.Y169Y ANO7_ENST00000402430.3_Silent_p.Y168Y NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 169 cell junction|chloride channel complex|cytosol chloride channel activity p.Y169Y(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CAGTGCACTACGCCCTCCTCA 0.637000 17 74 0 0 0.500413 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103599852 103599852 + Missense_Mutation SNP C C A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr14:103599852C>A ENST00000560869.1 + 10 2338 c.1699C>A c.(1699-1701)Cac>Aac p.H567N TNFAIP2_ENST00000538222.1_Missense_Mutation_p.H50N|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.H236N|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.H567N Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 567 angiogenesis|cell differentiation extracellular space p.H567N(1) NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) CTGCACCCAGCACGTAAGCCG 0.627000 3 50 0.115264 0.125937 0.115264 1 0 OCIAD1 54940 broad.mit.edu 37 4 48851971 48851971 + Silent SNP T T C TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr4:48851971T>C ENST00000425583.2 + 6 524 c.249T>C c.(247-249)tgT>tgC p.C83C OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Silent_p.C83C|OCIAD1_ENST00000396448.2_Silent_p.C83C|OCIAD1_ENST00000264312.7_Silent_p.C83C|OCIAD1_ENST00000513391.2_Silent_p.C83C|OCIAD1_ENST00000444354.2_Silent_p.C83C|OCIAD1_ENST00000381473.3_Silent_p.C83C|OCIAD1_ENST00000506801.1_Silent_p.C29C|OCIAD1_ENST00000509122.1_Silent_p.C56C NM_001079842.2 NP_001073311.2 Q9NX40 OCAD1_HUMAN OCIA domain containing 1 83 OCIA. endosome protein binding p.C83C(1) breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2) 9 AAGTTGCTTGTATCATGGGAT 0.318000 39 128 0 0 0.812448 0 0 PRAM1 84106 broad.mit.edu 37 19 8564163 8564163 + Missense_Mutation SNP C C T TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr19:8564163C>T ENST00000423345.4 - 2 1049 c.529G>A c.(529-531)Gcc>Acc p.A177T PRAM1_ENST00000255612.3_Missense_Mutation_p.A177T Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 225 Pro-rich. lipid binding|protein binding p.A177T(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GGGGGTCTGGCGGGGTGACTG 0.697000 5 21 0 0 0.184627 0 0 LYL1 4066 broad.mit.edu 37 19 13211896 13211896 + Silent SNP T T G TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr19:13211896T>G ENST00000264824.4 - 2 450 c.90A>C c.(88-90)ccA>ccC p.P30P NM_005583.4 NP_005574.2 P12980 LYL1_HUMAN lymphoblastic leukemia derived sequence 1 30 B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.P30P(1) cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1) 7 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GCTTAGGGGGTGGGGCAGGCG 0.706000 T TRB@ T-ALL 3 8 0 0 0.150653 0 0 GHITM 27069 broad.mit.edu 37 10 85904774 85904774 + Splice_Site SNP T T C TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr10:85904774T>C ENST00000372134.3 + 5 676 c.e5+2 NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein apoptosis integral to membrane|mitochondrial inner membrane p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 TCTTGGGTGGTAAGTCAGCTG 0.368000 3 176 0 0 0.115264 0 0 PIWIL3 440822 broad.mit.edu 37 22 25144942 25144942 + Missense_Mutation SNP C C A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr22:25144942C>A ENST00000332271.5 - 12 1797 c.1381G>T c.(1381-1383)Gat>Tat p.D461Y PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D352Y NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 461 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding p.D461Y(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AAATTGGTATCAAATTTCAAA 0.348000 46 137 6.68952e-21 8.77071e-21 0.864702 1 0 KCTD16 57528 broad.mit.edu 37 5 143586927 143586927 + Missense_Mutation SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr5:143586927G>A ENST00000507359.2 + 2 1741 c.650G>A c.(649-651)cGa>cAa p.R217Q KCTD16_ENST00000512467.1_Missense_Mutation_p.R217Q NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 217 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity p.R217Q(1) large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GACCCTGATCGAGCCCCAGAA 0.453000 6 141 0 0 0.335167 0 0 ASPHD2 57168 broad.mit.edu 37 22 26830386 26830386 + Missense_Mutation SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr22:26830386G>A ENST00000215906.5 + 2 1243 c.805G>A c.(805-807)Gcg>Acg p.A269T NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 269 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity p.A243T(1) endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 TTTTGGGAACGCGTGCATCTC 0.547000 51 206 0 0 0.870114 0 0 CCDC88B 283234 broad.mit.edu 37 11 64109490 64109490 + Silent SNP C C A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr11:64109490C>A ENST00000356786.5 + 8 744 c.700C>A c.(700-702)Cga>Aga p.R234R CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 234 microtubule cytoskeleton organization cytoplasm microtubule binding p.R234R(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCTGCTGGAGCGAGAACCCCT 0.632000 3 46 0.004672 0.00520091 0.115264 1 0 LPO 0 broad.mit.edu 37 17 56345181 56345181 + Silent SNP C C T TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr17:56345181C>T ENST00000262290.4 + 13 2281 c.1965C>T c.(1963-1965)aaC>aaT p.N655N LPO_ENST00000543544.1_Silent_p.N596N|LPO_ENST00000421678.2_Silent_p.N572N|LPO_ENST00000582328.1_Silent_p.N572N NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 655 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.N655N(1) breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TCTTCACGAACGAGCAGAAGG 0.577000 19 83 0 0 0.557998 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49329843 49329843 + Missense_Mutation SNP T T A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr15:49329843T>A ENST00000559471.1 - 2 411 c.148A>T c.(148-150)Att>Ttt p.I50F SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I50F NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 50 p.I50F(1)|p.I50V(1) breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 TAGCTGGGAATTGGAGTTGGT 0.398000 34 82 0 0 0.779181 0 0 OR5L2 26338 broad.mit.edu 37 11 55594892 55594892 + Missense_Mutation SNP G G T TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr11:55594892G>T ENST00000378397.1 + 1 198 c.198G>T c.(196-198)ttG>ttT p.L66F NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L66F(1) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TCAGCCACTTGTCCTTTGTAG 0.473000 HNSCC(27;0.073) 6 486 3.59834e-05 4.24604e-05 0.217242 1 0 CCNB3 85417 broad.mit.edu 37 X 50054016 50054016 + Silent SNP A A G TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chrX:50054016A>G ENST00000376042.1 + 6 3145 c.2847A>G c.(2845-2847)ttA>ttG p.L949L CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L Q8WWL7 CCNB3_HUMAN cyclin B3 949 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding p.L949L(5) breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) AGGAGCCATTAGCCTTACAAG 0.483000 3 98 0 0 0.115264 0 0 ZNF197 10168 broad.mit.edu 37 3 44672664 44672664 + Silent SNP G G A rs150727145 byFrequency TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr3:44672664G>A ENST00000396058.1 + 2 668 c.501G>A c.(499-501)ccG>ccA p.P167P ZNF197_ENST00000344387.4_Silent_p.P167P|ZNF197_ENST00000383745.2_Silent_p.P167P|ZNF197_ENST00000383744.4_Silent_p.P167P|RP11-944L7.4_ENST00000457331.1_RNA O14709 ZN197_HUMAN zinc finger protein 197 167 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P167P(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) AAATTTGCCCGCATCCTCCTA 0.527000 4 179 0 0 0.150653 0 0 RBPMS 11030 broad.mit.edu 37 8 30407063 30407063 + Missense_Mutation SNP C C A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr8:30407063C>A ENST00000287771.5 + 7 1141 c.575C>A c.(574-576)cCg>cAg p.P192Q RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000538486.1_Intron NM_001008711.1 NP_001008711.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing 0 positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity p.P192Q(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) TTGAGCGCTCCGTCTCCTGAT 0.542000 24 101 1.5548e-18 1.9942e-18 0.693898 1 0 BTNL8 79908 broad.mit.edu 37 5 180338568 180338568 + Silent SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr5:180338568G>A ENST00000231229.4 + 3 861 c.627G>A c.(625-627)cgG>cgA p.R209R BTNL8_ENST00000400707.3_Silent_p.R84R|BTNL8_ENST00000340184.4_Silent_p.R209R|BTNL8_ENST00000511704.1_Silent_p.R93R|BTNL8_ENST00000533815.2_Silent_p.R25R|BTNL8_ENST00000508408.1_Silent_p.R209R|BTNL8_ENST00000505126.1_Silent_p.R2R NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 209 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTTCCATGCGGCATGCTCATC 0.552000 4 164 0 0 0.150653 0 0 CSMD1 64478 broad.mit.edu 37 8 2910129 2910129 + Silent SNP T T A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr8:2910129T>A ENST00000520002.1 - 51 8073 c.7518A>T c.(7516-7518)tcA>tcT p.S2506S CSMD1_ENST00000602723.1_Silent_p.S2506S|CSMD1_ENST00000542608.1_Silent_p.S2505S|CSMD1_ENST00000537824.1_Silent_p.S2505S|CSMD1_ENST00000400186.3_Silent_p.S2506S|CSMD1_ENST00000602557.1_Silent_p.S2506S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2506 Sushi 15. integral to membrane p.S2505S(1)|p.S2234S(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCCCGGTAAATGAACCGTTTC 0.428000 7 27 0 0 0.248553 0 0 ALS2 57679 broad.mit.edu 37 2 202626025 202626025 + Missense_Mutation SNP C C A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr2:202626025C>A ENST00000264276.6 - 4 1064 c.692G>T c.(691-693)cGa>cTa p.R231L ALS2_ENST00000467448.1_Missense_Mutation_p.R231L NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 231 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 p.R231L(1) 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 CTGGTTGCATCGTTCTGGGAC 0.498000 5 121 0.184627 0.198055 0.184627 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 8 54 0 0 0.361761 0 0 LRRC2 79442 broad.mit.edu 37 3 46592966 46592966 + Missense_Mutation SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr3:46592966G>A ENST00000395905.3 - 2 508 c.116C>T c.(115-117)gCc>gTc p.A39V LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.A39V NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 39 p.A39V(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) CTTCTCCAAGGCGCTCTTCTC 0.468000 4 164 0 0 0.150653 0 0 TRBV6-4 0 broad.mit.edu 37 7 142250753 142250753 + RNA SNP C C T TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr7:142250753C>T ENST00000390360.3 - 0 314 GTACAGCAGACGCCAACGTGA 0.502000 5 222 0 0 0.184627 0 0 PCDHGA3 0 broad.mit.edu 37 5 140725403 140725403 + Silent SNP C C T TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr5:140725403C>T ENST00000253812.6 + 1 1803 c.1803C>T c.(1801-1803)aaC>aaT p.N601N PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.N601N(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCCAGAACGCCTGGCTGT 0.697000 11 39 0 0 0.557998 0 0 ASCC3 10973 broad.mit.edu 37 6 101166013 101166013 + Missense_Mutation SNP C C A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr6:101166013C>A ENST00000369162.2 - 12 2361 c.2017G>T c.(2017-2019)Gat>Tat p.D673Y ASCC3_ENST00000522650.1_Missense_Mutation_p.D673Y NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding p.D673Y(1) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AAACGGCCATCAAAGAAGAAA 0.343000 44 117 6.21074e-16 7.79646e-16 0.859065 1 0 CELF2 10659 broad.mit.edu 37 10 11330491 11330491 + Missense_Mutation SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr10:11330491G>A ENST00000379261.4 + 9 1023 c.931G>A c.(931-933)Gcc>Acc p.A311T CELF2_ENST00000427450.1_Missense_Mutation_p.A287T|CELF2_ENST00000542579.1_Missense_Mutation_p.A318T|CELF2_ENST00000399850.3_Missense_Mutation_p.A287T|CELF2_ENST00000417956.2_Missense_Mutation_p.A287T|CELF2_ENST00000315874.3_Missense_Mutation_p.A287T|CELF2_ENST00000354440.2_Missense_Mutation_p.A287T|CELF2_ENST00000354897.3_Missense_Mutation_p.A287T|CELF2_ENST00000416382.2_Missense_Mutation_p.A311T|CELF2_ENST00000450189.1_Missense_Mutation_p.A318T|CELF2_ENST00000537122.1_Missense_Mutation_p.A200T NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 311 Ala-rich. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding p.A306T(1) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CACGAGCAGCGCCCTGGGAGC 0.637000 10 45 0 0 0.457914 0 0 COPA 1314 broad.mit.edu 37 1 160276964 160276964 + Missense_Mutation SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr1:160276964G>A ENST00000241704.7 - 14 1520 c.1291C>T c.(1291-1293)Cgg>Tgg p.R431W COPA_ENST00000368069.3_Missense_Mutation_p.R431W NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 431 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity p.R431W(1) central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GAATGCATCCGATCTAGGACA 0.478000 7 297 0 0 0.307466 0 0 DOCK3 1795 broad.mit.edu 37 3 51413195 51413195 + Missense_Mutation SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr3:51413195G>A ENST00000266037.9 + 51 5452 c.5429G>A c.(5428-5430)cGa>cAa p.R1810Q NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1810 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.R1810Q(2)|p.R1799Q(1) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AATTTCCAGCGAGCCCTGTTC 0.527000 6 220 0 0 0.217242 0 0 ABCG1 9619 broad.mit.edu 37 21 43702403 43702403 + Missense_Mutation SNP C C A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr21:43702403C>A ENST00000398437.1 + 7 1194 c.1046C>A c.(1045-1047)gCg>gAg p.A349E ABCG1_ENST00000340588.4_Missense_Mutation_p.A311E|ABCG1_ENST00000398457.2_Missense_Mutation_p.A205E|ABCG1_ENST00000347800.2_Missense_Mutation_p.A200E|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.A214E|ABCG1_ENST00000398449.3_Missense_Mutation_p.A203E|ABCG1_ENST00000361802.2_Missense_Mutation_p.A203E P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 203 amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity p.A205E(1)|p.A203E(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) ATACTGACAGCGCTGGGCTTG 0.637000 5 80 0.000602214 0.000696679 0.184627 1 0 FAM83G 644815 broad.mit.edu 37 17 18874710 18874710 + Missense_Mutation SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr17:18874710G>A ENST00000388995.6 - 6 2657 c.2434C>T c.(2434-2436)Cgg>Tgg p.R812W FAM83G_ENST00000345041.4_Missense_Mutation_p.R812W|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R812W|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 812 p.R812W(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 TGAGCCCTCCGTTTAGAATCC 0.622000 14 69 0 0 0.681144 0 0 CCNL2 81669 broad.mit.edu 37 1 1333666 1333666 + Silent SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr1:1333666G>A ENST00000400809.3 - 3 425 c.420C>T c.(418-420)cgC>cgT p.R140R CCNL2_ENST00000408918.4_Silent_p.R140R|CCNL2_ENST00000408952.5_5'UTR NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 140 Cyclin-like 1. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding p.R140R(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) CGTCCCGTATGCGTCTTGGGG 0.502000 51 195 0 0 0.870114 0 0 USP32P2 0 broad.mit.edu 37 17 18416592 18416592 + RNA SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr17:18416592G>A ENST00000425211.1 - 0 2677 CAGCCAGAGTGGTAGCTTTAC 0.428000 13 54 0 0 0.435327 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 120 0 0 0.184627 0 0 ANK1 286 broad.mit.edu 37 8 41572581 41572581 + Silent SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr8:41572581G>A ENST00000396942.1 - 15 1697 c.1614C>T c.(1612-1614)acC>acT p.T538T ANK1_ENST00000265709.8_Silent_p.T571T|ANK1_ENST00000289734.7_Silent_p.T538T|ANK1_ENST00000347528.4_Silent_p.T538T|ANK1_ENST00000396945.1_Silent_p.T538T|ANK1_ENST00000379758.2_Silent_p.T538T|ANK1_ENST00000352337.4_Silent_p.T538T P16157 ANK1_HUMAN ankyrin 1, erythrocytic 538 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.T538T(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CGTGCAGAGGGGTAAATCCTT 0.627000 22 91 0 0 0.667858 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 4 82 0 0 0.184627 0 0 OR8J1 219477 broad.mit.edu 37 11 56128312 56128312 + Missense_Mutation SNP C C T TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr11:56128312C>T ENST00000303039.3 + 1 622 c.590C>T c.(589-591)aCa>aTa p.T197I NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T197I(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TTACCAGAAACAGTTGTCTTT 0.294000 50 140 0 0 0.870114 0 0 ROBO2 6092 broad.mit.edu 37 3 77147227 77147227 + Missense_Mutation SNP G G A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr3:77147227G>A ENST00000461745.1 + 2 1024 c.124G>A c.(124-126)Gtc>Atc p.V42I ROBO2_ENST00000487694.3_Missense_Mutation_p.V58I|ROBO2_ENST00000332191.8_Missense_Mutation_p.V42I NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 42 Ig-like C2-type 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.V42I(1)|p.V58I(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CGATGTCATCGTCTCTAAGGG 0.547000 12 36 0 0 0.387290 0 0 FIGN 55137 broad.mit.edu 37 2 164467945 164467945 + Missense_Mutation SNP C C T TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr2:164467945C>T ENST00000333129.3 - 3 711 c.397G>A c.(397-399)Gct>Act p.A133T FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 133 nuclear matrix ATP binding|nucleoside-triphosphatase activity p.A133T(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CTGACTCCAGCTTTGCTGGCA 0.498000 80 230 0 0 0.870114 0 0 NBPF1 55672 broad.mit.edu 37 1 16918514 16918514 + Translation_Start_Site SNP C C A TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr1:16918514C>A ENST00000430580.2 - 7 890 c.3G>T c.(1-3)atG>atT p.M1I NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CTGATACCACCATGCTGACGT 0.483000 40 852 3.76114e-14 4.62306e-14 0.796494 1 0 LINC00971 0 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 5 7 --- --- --- --- DAPK1 1612 broad.mit.edu 37 9 90321801 90321802 + Frame_Shift_Ins INS - - G rs56169226 TCGA-EJ-5522-01A-01D-1576-08 TCGA-EJ-5522-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a89182-c17c-42a8-af9e-4fcc861e336c 9b4b6723-8e0e-4e98-a726-c023723e08b1 g.chr9:90321801_90321802insG ENST00000469640.2 + 27 4265_4266 c.3890_3891insG c.(3889-3891)aggfs p.R1297fs DAPK1_ENST00000472284.1_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000408954.3_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000358077.5_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000491893.1_Frame_Shift_Ins_p.R1206fs P53355 DAPK1_HUMAN death-associated protein kinase 1 1272 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity p.Y1276fs*31(1)|p.Y1275fs*31(1) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 ACCAACACCATGGGGGGGTACA 0.584 Chronic Lymphocytic Leukemia, Familial Clustering of 28 126 --- --- --- ---