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 CBWD3 445571 broad.mit.edu 37 9 70871889 70871889 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr9:70871889C>T ENST00000360171.6 + 5 1034 c.483C>T c.(481-483)taC>taT p.Y161Y CBWD3_ENST00000377342.5_Intron NM_201453.2 NP_958861.2 Q5JTY5 CBWD3_HUMAN COBW domain containing 3 161 ATP binding kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18) GTGATATTTACCTTGATGGTA 0.294000 7 663 0 0 1 0 0 PRSS23 11098 broad.mit.edu 37 11 86518765 86518765 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr11:86518765C>T ENST00000280258.5 + 2 505 c.80C>T c.(79-81)cCc>cTc p.P27L PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P27L NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 27 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TACAGTGCCCCCTGGAAACCC 0.547000 100 348 0 0 1 0 0 CKAP2L 150468 broad.mit.edu 37 2 113498574 113498574 + Silent SNP A A T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:113498574A>T ENST00000541405.1 - 8 1861 c.1338T>A c.(1336-1338)tcT>tcA p.S446S CKAP2L_ENST00000302450.6_Silent_p.S611S|NT5DC4_ENST00000327581.4_Intron Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 611 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 CTAAAGAGTCAGAAGTAATCC 0.348000 5 359 0 0 1 0 0 TREX2 11219 broad.mit.edu 37 X 152710707 152710707 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chrX:152710707G>A ENST00000330912.2 - 13 1732 c.182C>T c.(181-183)aCg>aTg p.T61M TREX2_ENST00000370231.2_Missense_Mutation_p.T61M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|TREX2_ENST00000402951.1_Missense_Mutation_p.T104M|TREX2_ENST00000338525.2_Missense_Mutation_p.T61M|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M|TREX2_ENST00000334497.2_Missense_Mutation_p.T104M Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 104 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding endometrium(4)|large_intestine(2)|lung(3)|ovary(2) 11 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CATGCACAGCGTGAGCTTGTC 0.657000 Editing and processing nucleases 28 37 0 0 1 0 0 CARD9 64170 broad.mit.edu 37 9 139266428 139266428 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr9:139266428G>A ENST00000371732.5 - 2 268 c.103C>T c.(103-105)Cgg>Tgg p.R35W CARD9_ENST00000315908.7_Missense_Mutation_p.R35W|CARD9_ENST00000371734.3_Missense_Mutation_p.R35W NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 35 CARD. positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) TTGCACTGCCGCAGGTAAGGT 0.627000 6 566 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237586430 237586430 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:237586430G>A ENST00000366574.2 + 12 1204 c.887G>A c.(886-888)cGa>cAa p.R296Q RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 296 MIR 4. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGCCATTCCGACTACGCCAT 0.418000 15 481 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166900451 166900451 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:166900451C>T ENST00000423058.2 - 11 1788 c.1771G>A c.(1771-1773)Gca>Aca p.A591T AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A591T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 591 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCATCATCTGCGAAGTCGTTC 0.517000 62 242 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140214165 140214165 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr5:140214165C>T ENST00000525929.1 + 1 197 c.197C>T c.(196-198)gCg>gTg p.A66V PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTTCCGGGCGGTGTGCAAA 0.617000 165 586 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 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) TCTTAACTTACTGTTGTGAAA 0.418000 15 129 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 224 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87138791 87138791 + Missense_Mutation SNP C C A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr7:87138791C>A ENST00000265724.3 - 27 3706 c.3289G>T c.(3289-3291)Gat>Tat p.D1097Y ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.D1033Y NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1097 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TCTTTGCCATCAAGCAGCTGA 0.453000 36 155 4.65686e-17 5.05489e-17 1 1 0 SIRPA 140885 broad.mit.edu 37 20 1902206 1902206 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr20:1902206T>C ENST00000358771.4 + 3 754 c.602T>C c.(601-603)gTa>gCa p.V201A SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A|SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 201 Ig-like C1-type 1. VG -> AR. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GTGGACCCCGTAGGAGAGAGC 0.572000 4 303 0 0 1 0 0 ZNF708 7562 broad.mit.edu 37 19 21476689 21476689 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:21476689T>C ENST00000356929.3 - 4 1276 c.1079A>G c.(1078-1080)gAa>gGa p.E360G NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 GGGTTTCTCTTCAGTATGAAT 0.363000 6 409 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684301 100684301 + Missense_Mutation SNP A A C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr7:100684301A>C ENST00000306151.4 + 3 9668 c.9604A>C c.(9604-9606)Act>Cct p.T3202P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3202 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity 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) TACTGAAGCCACTTCATCTAC 0.502000 8 1031 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644061 53644061 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:53644061C>T ENST00000452676.2 - 5 2449 c.2023G>A c.(2023-2025)Gtt>Att p.V675I ZNF347_ENST00000601469.2_Missense_Mutation_p.V675I|ZNF347_ENST00000334197.7_Missense_Mutation_p.V674I|ZNF347_ENST00000601804.1_Intron NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 674 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) CCAGTATGAACTCTCCGATGT 0.423000 7 669 0 0 1 0 0 OBP2B 29989 broad.mit.edu 37 9 136081792 136081792 + Missense_Mutation SNP C C T rs1132280 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr9:136081792C>T ENST00000372034.3 - 5 441 c.400G>A c.(400-402)Gat>Aat p.D134N OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B 134 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) CGGTTGGTATCAGAATTCCTA 0.612000 7 283 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 15 506 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38994959 38994959 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:38994959C>T ENST00000355481.4 + 50 8157 c.8026C>T c.(8026-8028)Cgg>Tgg p.R2676W RYR1_ENST00000360985.3_Missense_Mutation_p.R2676W|RYR1_ENST00000359596.3_Missense_Mutation_p.R2676W NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2676 6 X approximate repeats. R -> W (in MHS1; located on the same allele as S-2787; dbSNP:rs28934001). muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCACCTCACACGGAAACTCTT 0.582000 71 123 0 0 1 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123682836 123682836 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:123682836C>T ENST00000606320.1 - 12 2189 c.1983G>A c.(1981-1983)gtG>gtA p.V661V MPHOSPH9_ENST00000392425.3_Silent_p.V509V|MPHOSPH9_ENST00000302349.5_Silent_p.V509V|MPHOSPH9_ENST00000541076.2_Silent_p.V631V Q99550 MPP9_HUMAN M-phase phosphoprotein 9 509 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) CAAGTGTTCTCACGCGACTAG 0.323000 19 62 0 0 1 0 0 GP1BA 2811 broad.mit.edu 37 17 4836037 4836037 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr17:4836037G>A ENST00000329125.5 + 2 213 c.138G>A c.(136-138)ccG>ccA p.P46P NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 46 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 CAGACCTGCCGAAAGACACAA 0.552000 5 485 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 226 0 0 1 0 0 PRRT2 112476 broad.mit.edu 37 16 29824835 29824835 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr16:29824835C>T ENST00000300797.6 + 2 634 c.460C>T c.(460-462)Cca>Tca p.P154S PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Missense_Mutation_p.P154S|PRRT2_ENST00000567551.1_Intron Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 154 Pro-rich. response to biotic stimulus integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 TACCCCCAAGCCAGCCCTTCA 0.637000 32 99 0 0 1 0 0 VEPH1 79674 broad.mit.edu 37 3 156978980 156978980 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr3:156978980G>A ENST00000362010.2 - 14 2752 c.2445C>T c.(2443-2445)aaC>aaT p.N815N RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Silent_p.N815N|VEPH1_ENST00000392833.2_Silent_p.N770N|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.N770N NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 815 PH. plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CAACTGCCACGTTGATGCACT 0.448000 77 236 0 0 1 0 0 CNIH3 149111 broad.mit.edu 37 1 224922304 224922304 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:224922304C>T ENST00000272133.3 + 5 1233 c.351C>T c.(349-351)taC>taT p.Y117Y NM_152495.1 NP_689708.1 Q8TBE1 CNIH3_HUMAN cornichon family AMPA receptor auxiliary protein 3 117 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane large_intestine(5)|lung(4) 9 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) AACTAGCCTACGACCCACCGG 0.517000 58 240 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515435 195515435 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr3:195515435C>T ENST00000463781.3 - 2 3475 c.3016G>A c.(3016-3018)Gcc>Acc p.A1006T MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1008 Repeat.|Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A1006T(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGAGGGGTGGCGTGACCTGTG 0.582000 3 29 0 0 1 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18067087 18067087 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr7:18067087T>C ENST00000506618.2 - 1 399 c.319A>G c.(319-321)Atc>Gtc p.I107V NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 107 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) TTGGCAGAGATTGGGGACCGG 0.463000 94 337 0 0 1 0 0 ZNF79 7633 broad.mit.edu 37 9 130207140 130207140 + Silent SNP A A G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr9:130207140A>G ENST00000342483.5 + 5 1567 c.1161A>G c.(1159-1161)aaA>aaG p.K387K ZNF79_ENST00000543471.1_Silent_p.K363K NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 CTGGGGAGAAACCCTACAAGT 0.532000 6 279 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227662563 227662563 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:227662563C>T ENST00000305123.4 - 1 1912 c.892G>A c.(892-894)Ggg>Agg p.G298R NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 298 Ser-rich. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CGGGTCAGCCCCACCTGGCTG 0.687000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 79 328 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23893229 23893229 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr14:23893229T>C ENST00000355349.3 - 23 2971 c.2809A>G c.(2809-2811)Act>Gct p.T937A NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 937 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTCTTGGCAGTGAGCTCAGCA 0.522000 99 357 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864001 52864001 + RNA SNP A A G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr13:52864001A>G ENST00000451298.1 - 0 168 RP11-64P12.8_ENST00000606031.1_RNA GAAAAAATAAAGCAATAGCTA 0.313000 4 201 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29989217 29989217 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr16:29989217G>A ENST00000308893.4 + 2 1167 c.124G>A c.(124-126)Gta>Ata p.V42I TAOK2_ENST00000279394.3_Missense_Mutation_p.V42I|TAOK2_ENST00000543033.1_Missense_Mutation_p.V42I NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 42 Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CTTTGGAGCCGTATACTTTGT 0.532000 5 471 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T rs121913530 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:25398285C>T ENST00000311936.3 - 2 225 c.34G>A c.(34-36)Ggt>Agt p.G12S KRAS_ENST00000556131.1_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000256078.4_Missense_Mutation_p.G12S NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 26 108 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20045193 20045193 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:20045193G>A ENST00000343769.5 + 4 1457 c.1429G>A c.(1429-1431)Gga>Aga p.G477R AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 477 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 AATTCATACTGGAGAGAAACC 0.373000 6 479 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21806573 21806573 + Missense_Mutation SNP A A G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:21806573A>G ENST00000318220.6 + 14 2118 c.1070A>G c.(1069-1071)gAg>gGg p.E357G NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 413 NBPF 2. cytoplasm p.E413G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GATGAGAAAGAGCCTGAAGTC 0.463000 6 363 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74915507 74915507 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr11:74915507C>T ENST00000289575.5 + 14 2407 c.2012C>T c.(2011-2013)gCt>gTt p.A671V SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A555V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 671 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) TTAGTTTTGGCTGTCCTGAGG 0.542000 5 354 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627757 43627757 + Silent SNP A A G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr9:43627757A>G ENST00000332857.6 - 4 958 c.930T>C c.(928-930)tgT>tgC p.C310C NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CTTCCATCTGACAGGTCTCTG 0.532000 8 575 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864028 52864028 + RNA SNP C C T rs138483057 by1000genomes TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr13:52864028C>T ENST00000451298.1 - 0 141 RP11-64P12.8_ENST00000606031.1_RNA TAGAATGATACTCCAAAGGAA 0.313000 7 222 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21991811 21991811 + Missense_Mutation SNP G G T rs149679417 byFrequency TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:21991811G>T ENST00000594012.1 - 7 1524 c.1010C>A c.(1009-1011)aCa>aAa p.T337K ZNF43_ENST00000354959.4_Missense_Mutation_p.T343K|ZNF43_ENST00000598381.1_Missense_Mutation_p.T337K|ZNF43_ENST00000595461.1_Missense_Mutation_p.T337K NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TTCTTCACATGTGTAGGGTTT 0.383000 6 419 0.000157383 0.000161191 1 1 0 CGREF1 10669 broad.mit.edu 37 2 27324303 27324303 + Missense_Mutation SNP C C T rs113949888 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:27324303C>T ENST00000402394.1 - 6 1064 c.796G>A c.(796-798)Gaa>Aaa p.E266K CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 258 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCATCTCCTTCAGCCTCTGCC 0.687000 8 674 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 5 333 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:12187275G>C ENST00000439326.3 + 4 1515 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 5 365 0 0 1 0 0 ARC 23237 broad.mit.edu 37 8 143694625 143694625 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr8:143694625G>A ENST00000356613.2 - 1 2208 c.1008C>T c.(1006-1008)ttC>ttT p.F336F NM_015193.3 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 336 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) GGTGGCGCAGGAAACGCTTGA 0.682000 73 344 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580912 40580912 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:40580912C>T ENST00000450241.2 - 6 1646 c.1335G>A c.(1333-1335)ggG>ggA p.G445G AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.G480G|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.G480G|ZNF780A_ENST00000595687.2_Silent_p.G479G|ZNF780A_ENST00000340963.5_Silent_p.G479G O75290 Z780A_HUMAN zinc finger protein 780A 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGAAGGCCTTCCCACAGTCTT 0.423000 6 502 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22133993 22133993 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr14:22133993C>T ENST00000408935.1 + 1 697 c.697C>T c.(697-699)Cgc>Tgc p.R233C NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) AGCTGAAGGGCGCCAGAAAGC 0.527000 44 155 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 8 383 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661312 22661312 + RNA SNP T T C rs3855711 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr22:22661312T>C ENST00000426066.1 + 0 360 NR_027293.1 TGAATTTGTGTAGAACTTTGA 0.473000 7 147 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902215 247902215 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:247902215T>C ENST00000283225.2 + 1 299 c.299T>C c.(298-300)tTc>tCc p.F100S RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 TTGCAGCTCTTCTTGGTGGTA 0.542000 71 290 0 0 1 0 0 OBP2B 29989 broad.mit.edu 37 9 136081795 136081795 + Missense_Mutation SNP A A G rs1132279 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr9:136081795A>G ENST00000372034.3 - 5 438 c.397T>C c.(397-399)Tct>Cct p.S133P OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B 133 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity p.S133P(2) central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) TTGGTATCAGAATTCCTACCT 0.612000 8 277 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 4 180 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170062574 170062574 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:170062574G>A ENST00000263816.3 - 40 7800 c.7515C>T c.(7513-7515)cgC>cgT p.R2505R NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2505 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.R2505R(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTTTTGGAACGCGGGCTATCA 0.428000 100 342 0 0 1 0 0 ZWILCH 55055 broad.mit.edu 37 15 66832448 66832448 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr15:66832448G>A ENST00000307897.5 + 17 1967 c.1587G>A c.(1585-1587)caG>caA p.Q529Q ZWILCH_ENST00000446801.2_Silent_p.Q415Q|ZWILCH_ENST00000565627.1_Silent_p.Q415Q|ZWILCH_ENST00000535141.2_Silent_p.Q415Q NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein 529 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 AGAAGCCACAGAAATGGAGAG 0.373000 60 112 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627758 43627758 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr9:43627758C>T ENST00000332857.6 - 4 957 c.929G>A c.(928-930)tGt>tAt p.C310Y NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TTCCATCTGACAGGTCTCTGG 0.537000 7 580 0 0 1 0 0 ZMYM5 9205 broad.mit.edu 37 13 20409664 20409664 + Nonsense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr13:20409664G>A ENST00000337963.4 - 7 1468 c.1204C>T c.(1204-1206)Cag>Tag p.Q402* NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 402 nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) CTCTTCTGCTGACCTCCAATC 0.378000 5 225 0 0 1 0 0 TRGV8 0 broad.mit.edu 37 7 38370217 38370217 + RNA SNP C C G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr7:38370217C>G ENST00000390343.2 - 0 194 TGGTGACTGACTTTGTTCTCC 0.463000 5 272 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197990583 197990583 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:197990583G>A ENST00000328737.2 - 5 441 c.365C>T c.(364-366)gCg>gTg p.A122V ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 147 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTTCAGAGCCGCATGGTGCAA 0.542000 5 388 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117703242 117703242 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:117703242C>T ENST00000317775.6 - 12 2700 c.2015G>A c.(2014-2016)cGc>cAc p.R672H NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R672H NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 672 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCCCCGGCAGCGGTACTCATT 0.602000 11 28 0 0 1 0 0 AGER 177 broad.mit.edu 37 6 32151673 32151673 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr6:32151673C>T ENST00000375076.4 - 2 245 c.144G>A c.(142-144)cgG>cgA p.R48R AGER_ENST00000538695.1_Silent_p.R48R|AGER_ENST00000438221.2_Silent_p.R48R|AGER_ENST00000375065.5_Silent_p.R48R|AGER_ENST00000375055.2_Silent_p.R48R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375067.3_Silent_p.R48R|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375070.3_Silent_p.R79R NM_001136.4|NM_001206929.1|NM_001206932.1 NP_001127.1|NP_001193858.1|NP_001193861.1 Q15109 RAGE_HUMAN advanced glycosylation end product-specific receptor 48 Ig-like V-type. cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1)|endometrium(1)|lung(5)|pancreas(2) 9 TCCATTCCAGCCGCTGGGGTG 0.582000 44 236 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 470440 470440 + Missense_Mutation SNP T T C rs61730060 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr20:470440T>C ENST00000217244.3 - 10 1082 c.707A>G c.(706-708)cAt>cGt p.H236R CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000460062.1_5'UTR NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 236 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity p.H236R(2) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATAATTGTCATGTCCATGGAA 0.373000 6 133 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110230539 110230539 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:110230539G>A ENST00000418703.2 - 10 1836 c.1742C>T c.(1741-1743)gCc>gTc p.A581V TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 581 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CAGGACCAGGGCAAAGACCAT 0.587000 4 102 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 7 414 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42160137 42160137 + Missense_Mutation SNP C C A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr17:42160137C>A ENST00000225983.6 - 19 2841 c.2518G>T c.(2518-2520)Gcc>Tcc p.A840S HDAC5_ENST00000393622.2_Missense_Mutation_p.A839S|HDAC5_ENST00000336057.5_Missense_Mutation_p.A754S|HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S Q9UQL6 HDAC5_HUMAN histone deacetylase 5 839 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) ACTCACATGGCTGTGGATTCC 0.602000 3 25 1 1 1 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130220336 130220336 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chrX:130220336C>T ENST00000276211.5 + 10 1660 c.1315C>T c.(1315-1317)Cgc>Tgc p.R439C ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 439 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.R439C(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GGTTGCTAAGCGCGTGTGGAA 0.453000 71 92 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75051015 75051015 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr7:75051015C>T ENST00000453279.2 - 13 3384 c.2520G>A c.(2518-2520)tcG>tcA p.S840S POM121C_ENST00000257665.5_Silent_p.S1082S NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 1082 Pore side (Potential).|Thr-rich. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 CGGGGGCTGCCGAACCCCCAA 0.652000 5 132 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125396503 125396503 + Silent SNP G G A rs6657 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:125396503G>A ENST00000536769.1 - 1 3391 c.1815C>T c.(1813-1815)ctC>ctT p.L605L UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000538617.1_Silent_p.L225L|UBC_ENST00000339647.5_Silent_p.L605L P0CG48 UBC_HUMAN ubiquitin C 605 Ubiquitin-like 8. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.L605L(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCCCACCTCTGAGACGGAGCA 0.537000 6 307 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6596365 6596365 + Missense_Mutation SNP G G C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr4:6596365G>C ENST00000285599.3 + 7 999 c.963G>C c.(961-963)caG>caC p.Q321H MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q270H NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 321 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 TCTCGGTGCAGTATGCCACGC 0.597000 35 106 0 0 1 0 0 MIR1283-2 0 broad.mit.edu 37 19 54261563 54261563 + RNA SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:54261563G>A ENST00000408621.1 + 0 78 NR_031696.1 GGAGTGTTACGGTTTGAGAAA 0.453000 65 325 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70516196 70516196 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr10:70516196G>A ENST00000265872.6 + 14 1911 c.1792G>A c.(1792-1794)Gtc>Atc p.V598I CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 598 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 GCAGCAGCTGGTCGAGAAGCT 0.522000 21 64 0 0 1 0 0 B3GAT3 26229 broad.mit.edu 37 11 62389371 62389371 + Missense_Mutation SNP T T A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr11:62389371T>A ENST00000531383.1 - 1 255 c.49A>T c.(49-51)Atc>Ttc p.I17F B3GAT3_ENST00000265471.5_Missense_Mutation_p.I17F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.I17F O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) 17 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 AGGCCGGCGATCGACACCAGG 0.746000 35 113 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 14 178 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155223 22155223 + Silent SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:22155223T>C ENST00000397126.4 - 4 2761 c.2613A>G c.(2611-2613)aaA>aaG p.K871K ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.K771K(2)|p.K871K(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTGAGGGCCATTTATAGGCTT 0.373000 6 372 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7666172 7666172 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr4:7666172G>A ENST00000507866.2 + 7 1154 c.1045G>A c.(1045-1047)Gtg>Atg p.V349M SORCS2_ENST00000329016.9_Missense_Mutation_p.V177M NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 349 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 GTCTCTGACCGTGCAGGACGA 0.532000 27 102 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220500451 220500451 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:220500451C>T ENST00000358055.3 + 14 2541 c.2029C>T c.(2029-2031)Cgg>Tgg p.R677W SLC4A3_ENST00000317151.3_Missense_Mutation_p.R677W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R704W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R704W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R677W P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 677 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCCTTGCTGCGGACGGGCTC 0.642000 4 61 0 0 1 0 0 ARC 23237 broad.mit.edu 37 8 143694586 143694586 + Silent SNP G G T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr8:143694586G>T ENST00000356613.2 - 1 2247 c.1047C>A c.(1045-1047)atC>atA p.I349I NM_015193.3 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 349 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) TGCCCCTCTGGATGAGCTGCT 0.697000 60 243 1.00798e-23 1.11316e-23 1 1 0 ZNF493 284443 broad.mit.edu 37 19 21606468 21606468 + Missense_Mutation SNP C C T rs142651314 byFrequency TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:21606468C>T ENST00000392288.2 + 4 1116 c.1007C>T c.(1006-1008)cCt>cTt p.P336L ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TTCTCAACCCCTACTAAACAT 0.348000 5 372 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129851341 129851341 + Nonsense_Mutation SNP G G T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr9:129851341G>T ENST00000373425.3 - 5 1976 c.1359C>A c.(1357-1359)taC>taA p.Y453* RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151*|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 453 Fibrinogen C-terminal. multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 GGCCCCCGCGGTACCAGACCC 0.582000 117 406 1.14472e-53 1.28654e-53 1 1 0 POLR2G 5436 broad.mit.edu 37 11 62533969 62533969 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr11:62533969T>C ENST00000301788.7 + 8 614 c.509T>C c.(508-510)cTt>cCt p.L170P NM_002696.2 NP_002687.1 P62487 RPB7_HUMAN polymerase (RNA) II (DNA directed) polypeptide G 170 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|protein binding|RNA binding lung(3) 3 TTCGCAGGGCTTGTAAGCTGA 0.488000 53 154 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186050343 186050343 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:186050343G>A ENST00000271588.4 + 56 8833 c.8604G>A c.(8602-8604)ccG>ccA p.P2868P HMCN1_ENST00000367492.2_Silent_p.P2868P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2868 Ig-like C2-type 27. 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 TGTTAGTGCCGCCAATTATCA 0.423000 8 898 0 0 1 0 0 RP11-119F19.2 0 broad.mit.edu 37 10 81443821 81443821 + RNA SNP C C G rs150975459 by1000genomes TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr10:81443821C>G ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GCAGCACCATCGCCTCAGACC 0.612000 6 74 0 0 1 0 0 C19orf26 255057 broad.mit.edu 37 19 1236016 1236016 + Silent SNP G G A rs146688767 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:1236016G>A ENST00000590083.1 - 2 376 c.84C>T c.(82-84)gaC>gaT p.D28D C19orf26_ENST00000215376.6_Silent_p.D22D|C19orf26_ENST00000382477.2_Silent_p.D22D Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 22 Thr-rich. integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGTGGCATTGTCCCACGACG 0.687000 HNSCC(14;0.022) 40 112 0 0 1 0 0 MTMR12 54545 broad.mit.edu 37 5 32229910 32229910 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr5:32229910C>T ENST00000382142.3 - 16 2388 c.2218G>A c.(2218-2220)Gag>Aag p.E740K MTMR12_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686K NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 740 cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TCCACGAACTCATCTTCTCGT 0.507000 59 177 0 0 1 0 0 ENC1 8507 broad.mit.edu 37 5 73930609 73930609 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr5:73930609T>C ENST00000302351.4 - 2 2832 c.1702A>G c.(1702-1704)Atc>Gtc p.I568V ENC1_ENST00000537006.1_Missense_Mutation_p.I568V|ENC1_ENST00000510316.1_Missense_Mutation_p.I495V NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 568 YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532). nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) ACAGTGGTGATGCTGTTCCAC 0.473000 41 108 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79031709 79031709 + Nonsense_Mutation SNP C C A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr5:79031709C>A ENST00000446378.2 + 2 7152 c.7121C>A c.(7120-7122)tCa>tAa p.S2374* NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2374 perinuclear region of cytoplasm 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) AAACAAAAATCACTCCTTTCA 0.368000 39 157 5.43694e-19 5.95251e-19 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661328 22661328 + RNA SNP G G A rs1044439 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr22:22661328G>A ENST00000426066.1 + 0 360 NR_027293.1 TTTGACCCCCGTTACCCCATT 0.507000 7 145 0 0 1 0 0 KRTAP9-3 83900 broad.mit.edu 37 17 39389087 39389087 + Missense_Mutation SNP T T G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr17:39389087T>G ENST00000411528.2 + 1 373 c.334T>G c.(334-336)Tgt>Ggt p.C112G NM_031962.2 NP_114168.1 Q9BYQ3 KRA93_HUMAN keratin associated protein 9-3 112 16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI]. keratin filament protein binding p.P114fs*3(1) breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1) 8 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CACAAGTGTTTGTCTGCCTGG 0.602000 89 276 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382749 152382749 + Missense_Mutation SNP G G A rs3814301 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:152382749G>A ENST00000271835.3 - 3 871 c.809C>T c.(808-810)aCc>aTc p.T270I RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 270 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTGACCGTGGGTCTCAGTCCC 0.612000 9 1303 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:112608394T>C ENST00000341068.3 - 14 2381 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.T537A(5) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 5 342 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 15 505 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177305 7177305 + Missense_Mutation SNP G G T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:7177305G>T ENST00000406697.1 + 15 2045 c.1417G>T c.(1417-1419)Gct>Tct p.A473S C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.A306S|C1S_ENST00000328916.3_Missense_Mutation_p.A473S|C1S_ENST00000360817.5_Missense_Mutation_p.A473S P09871 C1S_HUMAN complement component 1, s subcomponent 473 Peptidase S1. 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) GGTGCTGACGGCTGCTCATGT 0.517000 45 172 5.48756e-27 6.11334e-27 1 1 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 7 337 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 26 109 1.39806e-14 1.50469e-14 1 1 0 ANK3 288 broad.mit.edu 37 10 61844558 61844558 + Silent SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr10:61844558T>C ENST00000280772.1 - 32 4067 c.3876A>G c.(3874-3876)ttA>ttG p.L1292L ANK3_ENST00000503366.1_Silent_p.L1293L|ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000355288.2_Silent_p.L426L NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1292 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CCACAGTTTCTAAAACTTGAT 0.363000 66 202 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145359109 145359109 + Missense_Mutation SNP T T A rs3967942 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:145359109T>A ENST00000342960.5 + 72 9084 c.9049T>A c.(9049-9051)Tgt>Agt p.C3017S NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3017 p.C3017S(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TCTTGAACTGTGTGACTCATG 0.483000 7 169 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154300339 154300339 + Splice_Site SNP C C A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:154300339C>A ENST00000368489.3 + 1 62 c.e1+2 ATP8B2_ENST00000368487.3_Intron NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCCCTACAGGCATGGGCTTCT 0.557000 7 551 0.27861 0.280822 1 1 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 5 173 0 0 1 0 0 FUZ 80199 broad.mit.edu 37 19 50314661 50314661 + Missense_Mutation SNP A A G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:50314661A>G ENST00000313777.4 - 5 614 c.451T>C c.(451-453)Tgt>Cgt p.C151R FUZ_ENST00000445575.2_Missense_Mutation_p.C151R|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000528094.1_Missense_Mutation_p.C115R|FUZ_ENST00000533418.1_Missense_Mutation_p.C101R|FUZ_ENST00000534008.1_5'UTR NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 151 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) CAGTCCACACACTGGGTCAGG 0.572000 29 49 0 0 1 0 0 OBP2B 29989 broad.mit.edu 37 9 136081782 136081782 + Missense_Mutation SNP C C A rs1132281 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr9:136081782C>A ENST00000372034.3 - 5 451 c.410G>T c.(409-411)cGg>cTg p.R137L OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B 137 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity p.R137L(1) central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) CAGGGCCTCCCGGTTGGTATC 0.607000 9 329 9.31168e-06 9.69331e-06 1 1 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 6 202 2.0095e-06 2.12672e-06 1 1 0 TXNDC2 0 broad.mit.edu 37 18 9886941 9886941 + Silent SNP A A G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr18:9886941A>G ENST00000306084.6 + 2 664 c.465A>G c.(463-465)aaA>aaG p.K155K TXNDC2_ENST00000536353.2_Silent_p.K88K|TXNDC2_ENST00000357775.4_Silent_p.K88K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 155 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CCTCAGCAAAACCCATCCAGC 0.547000 6 622 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112530884 112530884 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:112530884T>C ENST00000261745.4 - 2 363 c.115A>G c.(115-117)Aag>Gag p.K39E NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 39 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TTATGTTTCTTCAACAGTTTA 0.313000 9 255 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 5 244 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688625 60688625 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:60688625G>A ENST00000335712.6 - 4 1649 c.1422C>T c.(1420-1422)aaC>aaT p.N474N BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000356842.4_Silent_p.N474N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000538214.1_Silent_p.N440N NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 474 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GGTTGGGGTCGTTCTCGCTCT 0.642000 T IGH@ B-CLL 20 65 0 0 1 0 0 IFNLR1 163702 broad.mit.edu 37 1 24495932 24495932 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:24495932G>A ENST00000327535.1 - 3 354 c.342C>T c.(340-342)tcC>tcT p.S114S IFNLR1_ENST00000374418.3_Silent_p.S114S|IFNLR1_ENST00000374421.3_Silent_p.S114S|IFNLR1_ENST00000327575.2_Silent_p.S114S|IFNLR1_ENST00000374419.1_Silent_p.S31S NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 interferon, lambda receptor 1 CCAGGTATTCGGACTCCACCC 0.537000 25 82 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145027910 145027910 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr8:145027910C>T ENST00000354958.2 - 1 178 c.30G>A c.(28-30)gaG>gaA p.E10E PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000356346.3_Intron NM_201379.1 NP_958781.1 Q15149 PLEC_HUMAN plectin 0 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGGAGCTGATCTCGTTCTGGA 0.726000 28 210 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145756121 145756121 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr8:145756121G>A ENST00000276826.5 - 9 3223 c.3022C>T c.(3022-3024)Cgc>Tgc p.R1008C ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R1008C Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 1008 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 AGCACCATGCGGTTGATGCGG 0.721000 18 120 0 0 1 0 0 ADAM17 6868 broad.mit.edu 37 2 9663463 9663463 + Missense_Mutation SNP T T A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:9663463T>A ENST00000310823.3 - 7 940 c.758A>T c.(757-759)gAg>gTg p.E253V ADAM17_ENST00000497134.1_Missense_Mutation_p.E253V NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 253 Peptidase M12B. B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) GTCAATTAGCTCTATCTGTGT 0.333000 72 226 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62547800 62547800 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr14:62547800C>T ENST00000430451.2 + 4 1439 c.1242C>T c.(1240-1242)ttC>ttT p.F414F RP11-355I22.5_ENST00000553990.1_lincRNA NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 414 C2 1. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) ACCCCGTCTTCAGGGAGAAGG 0.582000 19 79 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1811270 1811270 + Missense_Mutation SNP G G T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr16:1811270G>T ENST00000250894.4 + 13 1657 c.1500G>T c.(1498-1500)gaG>gaT p.E500D MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E494D NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 500 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 CCAAAGAAGAGGCGGAGGATG 0.602000 104 330 1.98007e-57 2.24526e-57 1 1 0 TUBA4A 7277 broad.mit.edu 37 2 220115248 220115248 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:220115248C>T ENST00000392088.2 - 4 1683 c.1128G>A c.(1126-1128)ctG>ctA p.L376L TUBA4A_ENST00000248437.4_Silent_p.L391L NM_001278552.1 NP_001265481.1 P68366 TBA4A_HUMAN tubulin, alpha 4a 391 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTTGTGGTCCAGGCGGGCCC 0.637000 68 285 0 0 1 0 0 GRIN3B 116444 broad.mit.edu 37 19 1005311 1005311 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:1005311C>T ENST00000234389.3 + 3 1830 c.1811C>T c.(1810-1812)aCg>aTg p.T604M NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 604 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TACGGCCTCACGCCACGTGGC 0.662000 60 200 0 0 1 0 0 RP5-884C9.2 0 broad.mit.edu 37 1 38562824 38562825 + RNA DEL AG AG - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:38562824_38562825delAG ENST00000432922.1 + 0 301 ccacagaaacagagagagagag 0.500 3 6 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 8 124 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 10 690 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 11 181 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910879 2910880 + RNA INS - - C rs11453385 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:2910879_2910880insC ENST00000457478.1 - 0 594 acagccacccaccctacacctc 0.698 8 3 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 8 137 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 23 --- --- --- --- SP100 6672 broad.mit.edu 37 2 231380272 231380273 + Frame_Shift_Ins INS - - A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:231380272_231380273insA ENST00000264052.5 + 25 2912_2913 c.2557_2558insA c.(2557-2559)aaafs p.K853fs SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 853 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) tgtcaaggctgaaaaaagcaag 0.366 14 41 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 8 940 --- --- --- --- UROC1 131669 broad.mit.edu 37 3 126220106 126220106 + Frame_Shift_Del DEL T T - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr3:126220106delT ENST00000290868.2 - 10 973 c.920delA c.(919-921)agfs p.K307fs UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 307 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GAGCACCTCCTTTTTTTTCCT 0.587 8 797 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 9 401 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr5:140032593_140032594delGA ENST00000417647.2 + 5 407_408 c.268_269delGA c.(268-270)gfs p.E90fs IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.460 9 152 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 8 256 --- --- --- --- AGO2 27161 broad.mit.edu 37 8 141554345 141554345 + Frame_Shift_Del DEL G G - rs148575703 byFrequency TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr8:141554345delG ENST00000220592.5 - 14 1918 c.1806delC c.(1804-1806)ccfs p.P602fs AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CATCCCCGGCGGGGGGGTGAG 0.647 8 3024 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974777 21974780 + Frame_Shift_Del DEL GCCA GCCA - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr9:21974777_21974780delGCCA ENST00000304494.5 - 1 317_320 c.47_50delTGGC c.(46-51)ccfs p.LA16fs CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 16 L -> P (in a biliary tract tumor and a familial melanoma). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGCGGCCGTGGCCAGCCAGTCAGC 0.755 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 40 100 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 7 247 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 7 193 --- --- --- --- ANKRD49 54851 broad.mit.edu 37 11 94230058 94230059 + Frame_Shift_Ins INS - - A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr11:94230058_94230059insA ENST00000544253.1 + 2 317_318 c.199_200insA c.(199-201)aaafs p.K67fs ANKRD49_ENST00000544612.1_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000302755.4_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000540349.1_Frame_Shift_Ins_p.K67fs Q8WVL7 ANR49_HUMAN ankyrin repeat domain 49 67 positive regulation of transcription, DNA-dependent autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1) 12 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TCGATTGCAAGAAAAAAAAATG 0.381 7 412 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 7 152 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 9 296 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88329794 88329796 + In_Frame_Del DEL CGG CGG - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr13:88329794_88329796delCGG ENST00000325089.6 + 2 2370_2372 c.2151_2153delCGG c.(2149-2154)tac>ta p.YG717del SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 717 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACAGCGTGTACGGCGGCGGCGGC 0.645 8 346 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 9 164 --- --- --- --- IGHV4OR15-8 0 broad.mit.edu 37 15 22473095 22473096 + RNA INS - - G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr15:22473095_22473096insG ENST00000557788.2 - 0 174_175 CCCTGGGGGCTGGCGGACCCAG 0.594 15 1125 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr16:28931200_28931202delCTG ENST00000358201.4 - 3 925_927 c.337_339delCAG c.(337-339)del p.Q113del RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 113 Poly-Gln. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTCACAGTCCTGCTGCTGCTGC 0.640 7 220 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 9 276 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 8 317 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 7 321 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579503 7579503 + Frame_Shift_Del DEL C C - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr17:7579503delC ENST00000420246.2 - 4 316 c.184delG c.(184-186)aafs p.E62fs TP53_ENST00000269305.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E62fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 62 Interaction with HRMT1L2. E -> D (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.E62*(8)|p.E62K(3)|p.G59fs*23(3)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTGGGAGCTTCATCTGGACCT 0.617 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 259 603 --- --- --- --- PPP1R1B 84152 broad.mit.edu 37 17 37785436 37785451 + Frame_Shift_Del DEL GACCAACGCCTGCCAT GACCAACGCCTGCCAT - rs139161053 byFrequency TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr17:37785436_37785451delGACCAACGCCTGCCAT ENST00000254079.4 + 2 564_579 c.95_110delGACCAACGCCTGCCAT c.(94-111)agfs p.RPTPAM32fs PPP1R1B_ENST00000394265.1_Start_Codon_Del|PPP1R1B_ENST00000394267.2_Start_Codon_Del|PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs NM_032192.3 NP_115568.2 Q9UD71 PPR1B_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1B 32 signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity p.P33A(1) kidney(1)|large_intestine(1)|liver(1)|lung(2) 5 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CGGCGCAGGAGACCAACGCCTGCCATGCTGTTCCGG 0.648 20 215 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 7 271 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr18:77623691_77623692insGGC ENST00000316249.3 + 1 24_25 c.24_25insGGC c.(22-27)ccgcgg>ccGGCgcgg p.8_9PR>PAR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 8 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 6 10 --- --- --- --- HDGFRP2 0 broad.mit.edu 37 19 4491824 4491824 + Frame_Shift_Del DEL A A - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:4491824delA ENST00000301284.4 + 6 734 c.670delA c.(670-672)aafs p.K227fs HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.K227fs NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 227 Ser-rich. transcription, DNA-dependent nucleus DNA binding|protein binding GGGGGGACGGAAAAAAAAGGT 0.632 7 346 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:50474857_50474861delGACGC ENST00000602139.1 + 0 998 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGTCTCCAGGACGCTTCCCTTTGC 0.566 7 247 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085780 11085781 + RNA INS - - C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr21:11085780_11085781insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccacatcacaatca 0.579 6 8 --- --- --- --- DGCR5 0 broad.mit.edu 37 22 18976300 18976301 + RNA INS - - TATT rs139950802 by1000genomes TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr22:18976300_18976301insTATT ENST00000438934.1 + 0 394 DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA CTGGCTGGACAtatttatttat 0.381 4 8 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 9 25 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 10 257 --- --- --- ---