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 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_ENST00000408952.5_5'UTR|CCNL2_ENST00000408918.4_Silent_p.R140R 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 0.502 51 195 --- --- --- --- 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 0.483 40 852 --- --- --- --- ZBTB7B 51043 broad.mit.edu 37 1 154988948 154988948 + 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.chr1:154988948C>A ENST00000368426.3 + 4 1544 c.1407C>A c.(1405-1407)ccC>ccA p.P469P ZBTB7B_ENST00000292176.2_Silent_p.P469P|ZBTB7B_ENST00000417934.2_Silent_p.P503P|ZBTB7B_ENST00000535420.1_Silent_p.P469P NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 469 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.P469P(1) endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) ATGCACCACCCCACTACCCAC 0.652 3 56 --- --- --- --- CEP170 9859 broad.mit.edu 37 1 243354360 243354360 + 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.chr1:243354360G>T ENST00000366542.1 - 8 1119 c.1068C>A c.(1066-1068)agC>agA p.S356R CEP170_ENST00000366544.1_Missense_Mutation_p.S356R|CEP170_ENST00000366543.1_Missense_Mutation_p.S356R NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 356 centriole|microtubule|spindle p.S356R(1) NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) CACTTTTAATGCTTTTAGAAT 0.378 3 41 --- --- --- --- 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 0.498 80 230 --- --- --- --- 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 0.468 4 164 --- --- --- --- 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 0.527 6 220 --- --- --- --- 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_ENST00000444354.2_Silent_p.C83C|OCIAD1_ENST00000513391.2_Silent_p.C83C|OCIAD1_ENST00000264312.7_Silent_p.C83C|OCIAD1_ENST00000396448.2_Silent_p.C83C|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Silent_p.C83C|OCIAD1_ENST00000506801.1_Silent_p.C29C|OCIAD1_ENST00000381473.3_Silent_p.C83C|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 0.318 39 128 --- --- --- --- PCDHGA4 56111 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 PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTAGATCGCGAGGAAGAGG 0.552 6 21 --- --- --- --- 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_ENST00000400186.3_Silent_p.S2506S|CSMD1_ENST00000542608.1_Silent_p.S2505S|CSMD1_ENST00000537824.1_Silent_p.S2505S|CSMD1_ENST00000602723.1_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 0.428 7 27 --- --- --- --- 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_ENST00000352337.4_Silent_p.T538T|ANK1_ENST00000396945.1_Silent_p.T538T|ANK1_ENST00000347528.4_Silent_p.T538T|ANK1_ENST00000379758.2_Silent_p.T538T|ANK1_ENST00000265709.8_Silent_p.T571T|ANK1_ENST00000289734.7_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 0.627 22 91 --- --- --- --- 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_ENST00000542579.1_Missense_Mutation_p.A318T|CELF2_ENST00000608830.1_Missense_Mutation_p.A287T|CELF2_ENST00000450189.1_Missense_Mutation_p.A318T|CELF2_ENST00000609692.1_Missense_Mutation_p.A287T|CELF2_ENST00000354440.2_Missense_Mutation_p.A287T|CELF2_ENST00000417956.2_Missense_Mutation_p.A287T|CELF2_ENST00000399850.3_Missense_Mutation_p.A287T|CELF2_ENST00000416382.2_Missense_Mutation_p.A311T|CELF2_ENST00000537122.1_Missense_Mutation_p.A200T|CELF2_ENST00000427450.1_Missense_Mutation_p.A287T|CELF2_ENST00000354897.3_Missense_Mutation_p.A287T|CELF2_ENST00000315874.4_Missense_Mutation_p.A287T 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 0.637 10 45 --- --- --- --- 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 0.368 3 176 --- --- --- --- 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 0.473 HNSCC(27;0.073) 6 486 --- --- --- --- 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 0.294 50 140 --- --- --- --- DYRK2 8445 broad.mit.edu 37 12 68050894 68050894 + 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.chr12:68050894C>A ENST00000344096.3 + 3 620 c.207C>A c.(205-207)ggC>ggA p.G69G DYRK2_ENST00000393555.3_5'UTR NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 69 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G69G(2) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) AGATTGGCGGCAGTAAGCACA 0.473 3 90 --- --- --- --- 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 0.448 56 218 --- --- --- --- 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_ENST00000333007.1_Missense_Mutation_p.H567N|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.H50N|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.H236N 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 0.627 3 50 --- --- --- --- 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 0.398 34 82 --- --- --- --- 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 0.423 4 154 --- --- --- --- 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_ENST00000533313.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000532537.2_5'UTR|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 0.348 46 137 --- --- --- --- 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 0.547 51 206 --- --- --- ---