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 SDHB 6390 broad.mit.edu 37 1 17355219 17355219 + Missense_Mutation SNP G G A rs121917755 TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:17355219G>A ENST00000375499.3 - 4 449 c.299C>T c.(298-300)tCt>tTt p.S100F NM_003000.2 NP_002991.2 P21912 DHSB_HUMAN succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 100 2Fe-2S ferredoxin-type. S -> F (in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function). respiratory electron transport chain|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II 2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 10 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) Succinic acid(DB00139) CATTGCACAAGAGCCACAGAT 0.468 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome 8 100 --- --- --- --- UBR4 23352 broad.mit.edu 37 1 19489045 19489045 + Missense_Mutation SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:19489045C>T ENST00000375267.2 - 35 4828 c.4825G>A c.(4825-4827)Gcc>Acc p.A1609T UBR4_ENST00000375254.3_Missense_Mutation_p.A1609T|UBR4_ENST00000375217.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375226.2_Missense_Mutation_p.A1609T Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1609 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGGCTCAGGGCATTCGTGACA 0.512 6 89 --- --- --- --- THEMIS2 9473 broad.mit.edu 37 1 28212408 28212408 + Missense_Mutation SNP T T G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:28212408T>G ENST00000373921.3 + 6 1911 c.1907T>G c.(1906-1908)cTt>cGt p.L636R THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L507R|THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000492877.1_3'UTR NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 GAAGAAATACTTGAGCAATTT 0.438 13 53 --- --- --- --- PRKAA2 5563 broad.mit.edu 37 1 57161715 57161715 + Missense_Mutation SNP A A G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:57161715A>G ENST00000371244.4 + 6 737 c.671A>G c.(670-672)aAg>aGg p.K224R NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 224 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 ACGTTATTTAAGAAGATCCGA 0.463 11 275 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152281367 152281367 + Missense_Mutation SNP A A G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:152281367A>G ENST00000368799.1 - 3 6030 c.5995T>C c.(5995-5997)Tca>Cca p.S1999P FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1999 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGCACTTGATCTTGCCTGT 0.562 Ichthyosis 97 519 --- --- --- --- OR10T2 128360 broad.mit.edu 37 1 158369196 158369196 + Silent SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:158369196G>A ENST00000334438.1 - 1 60 c.61C>T c.(61-63)Ctg>Ttg p.L21L NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) AGCTCCCCCAGGCTGGAGAAA 0.468 4 27 --- --- --- --- KLHDC9 126823 broad.mit.edu 37 1 161069373 161069373 + Missense_Mutation SNP T T A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:161069373T>A ENST00000392192.2 + 3 834 c.692T>A c.(691-693)tTt>tAt p.F231Y KLHDC9_ENST00000368011.4_Intron|KLHDC9_ENST00000490724.2_Intron NM_001007255.2 NP_001007256.1 Q8NEP7 KLDC9_HUMAN kelch domain containing 9 0 lung(5)|upper_aerodigestive_tract(1) 6 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGACAGTCCTTTCTTTCTCCC 0.507 19 309 --- --- --- --- IL18RAP 8807 broad.mit.edu 37 2 103063567 103063567 + Silent SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr2:103063567C>T ENST00000264260.2 + 10 1699 c.1110C>T c.(1108-1110)acC>acT p.T370T IL18RAP_ENST00000409369.1_Silent_p.T228T NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 370 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CCATCGGGACCCTGGTGGCCG 0.587 5 167 --- --- --- --- GALNT15 117248 broad.mit.edu 37 3 16252698 16252698 + Missense_Mutation SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr3:16252698G>A ENST00000339732.5 + 5 1650 c.1147G>A c.(1147-1149)Gac>Aac p.D383N GALNT15_ENST00000437509.1_Missense_Mutation_p.D383N NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 TGGAGCGTATGACTCTCTTAT 0.547 17 59 --- --- --- --- IGSF10 285313 broad.mit.edu 37 3 151165279 151165279 + Silent SNP A A G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr3:151165279A>G ENST00000282466.3 - 4 2489 c.2490T>C c.(2488-2490)gaT>gaC p.D830D NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 830 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCATAGGACTATCAGATATTG 0.433 6 119 --- --- --- --- HCN1 348980 broad.mit.edu 37 5 45695903 45695903 + Missense_Mutation SNP A A C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr5:45695903A>C ENST00000303230.4 - 1 350 c.293T>G c.(292-294)tTc>tGc p.F98C NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 98 Involved in subunit assembly (By similarity). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CATGGAGGTGAACTGCCTCTG 0.682 9 38 --- --- --- --- CHD1 1105 broad.mit.edu 37 5 98216807 98216807 + Silent SNP T T G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr5:98216807T>G ENST00000284049.3 - 21 3182 c.3033A>C c.(3031-3033)gtA>gtC p.V1011V NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1011 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ATTCATCTCCTACAGTTAAAG 0.294 14 40 --- --- --- --- PCDHGA9 56107 broad.mit.edu 37 5 140783254 140783254 + Silent SNP G G T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr5:140783254G>T ENST00000573521.1 + 1 735 c.735G>T c.(733-735)cgG>cgT p.R245R PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCTCAACGGATTTACCGAG 0.557 12 72 --- --- --- --- KCNK17 89822 broad.mit.edu 37 6 39272357 39272357 + Missense_Mutation SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr6:39272357G>A ENST00000453413.2 - 3 567 c.427C>T c.(427-429)Ctc>Ttc p.L143F KCNK17_ENST00000373231.4_Missense_Mutation_p.L143F NM_001135111.1 NP_001128583.1 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 143 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 ACGAGGTTGAGTGGGATCCCC 0.637 15 102 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152676065 152676065 + Missense_Mutation SNP A A T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr6:152676065A>T ENST00000367255.5 - 67 11256 c.10655T>A c.(10654-10656)gTg>gAg p.V3552E SYNE1_ENST00000265368.4_Missense_Mutation_p.V3552E|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3523E|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3559E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3552 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGTGTGCAGCACTGAGTTCAA 0.542 HNSCC(10;0.0054) 7 92 --- --- --- --- TYW1 55253 broad.mit.edu 37 7 66563653 66563653 + Missense_Mutation SNP T T C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr7:66563653T>C ENST00000359626.5 + 12 1674 c.1510T>C c.(1510-1512)Tgt>Cgt p.C504R NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 504 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) ACTCCACCAGTGTAAAATTTC 0.453 4 70 --- --- --- --- ASB15 142685 broad.mit.edu 37 7 123269122 123269122 + Silent SNP T T C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr7:123269122T>C ENST00000451558.1 + 12 1595 c.1074T>C c.(1072-1074)gtT>gtC p.V358V ASB15_ENST00000275699.3_Silent_p.V358V|ASB15_ENST00000540573.1_Silent_p.V358V|ASB15_ENST00000451215.1_Silent_p.V358V|ASB15_ENST00000434204.1_Silent_p.V358V Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 358 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 ATTTTGGCGTTTCTAATAATG 0.453 46 73 --- --- --- --- UBXN2B 137886 broad.mit.edu 37 8 59343160 59343160 + Nonsense_Mutation SNP G G T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr8:59343160G>T ENST00000399598.2 + 3 393 c.271G>T c.(271-273)Gag>Tag p.E91* UBXN2B_ENST00000522978.1_3'UTR NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 91 cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 ACTTTTCAAAGAGGCAAGGGA 0.363 15 39 --- --- --- --- OSGIN2 734 broad.mit.edu 37 8 90933337 90933337 + Silent SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr8:90933337C>T ENST00000451899.2 + 5 818 c.558C>T c.(556-558)agC>agT p.S186S OSGIN2_ENST00000520659.1_Silent_p.S186S|OSGIN2_ENST00000297438.2_Silent_p.S142S NM_001126111.1 NP_001119583.1 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family member 2 142 germ cell development|meiosis breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(11;0.0344) TGACAATCAGCTTTGGAAGTT 0.328 6 156 --- --- --- --- TBC1D2 55357 broad.mit.edu 37 9 100962536 100962536 + Splice_Site SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr9:100962536G>A ENST00000375066.5 - 12 2636 c.2545C>T c.(2545-2547)Cgg>Tgg p.R849W TBC1D2_ENST00000375064.1_Splice_Site_p.R860C|TBC1D2_ENST00000375063.1_Splice_Site_p.R400W|TBC1D2_ENST00000342112.5_Splice_Site_p.R642W NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 860 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GTTCCTCACCGGCTGTTGGAG 0.537 8 18 --- --- --- --- ZBTB34 403341 broad.mit.edu 37 9 129641861 129641861 + Missense_Mutation SNP C C G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr9:129641861C>G ENST00000319119.4 + 2 268 c.183C>G c.(181-183)ttC>ttG p.F61L ZBTB34_ENST00000373452.2_Missense_Mutation_p.F57L NM_001099270.1 NP_001092740.1 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 57 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 CCCCATATTTCCGGGACCATT 0.463 6 97 --- --- --- --- TCF7L2 6934 broad.mit.edu 37 10 114925329 114925329 + Missense_Mutation SNP C C T rs61724286 TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr10:114925329C>T ENST00000355717.4 + 13 1913 c.1406C>T c.(1405-1407)gCg>gTg p.A469V TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000545257.1_Silent_p.C486C|TCF7L2_ENST00000543371.1_Silent_p.C469C|TCF7L2_ENST00000355995.4_Silent_p.C486C|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000542695.1_Silent_p.C202C|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.C469C|TCF7L2_ENST00000369397.4_Silent_p.C463C|TCF7L2_ENST00000538897.1_Missense_Mutation_p.A462V|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A156V NM_001146283.1|NM_001146286.1|NM_001198530.1 NP_001139755.1|NP_001139758.1|NP_001185459.1 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 0 Promoter-specific activation domain. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) AAAAAAAGTGCGTTCGCTACA 0.527 T VTI1A colorectal 5 112 --- --- --- --- ZRANB1 54764 broad.mit.edu 37 10 126672053 126672053 + Silent SNP A A G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr10:126672053A>G ENST00000359653.4 + 8 2075 c.1704A>G c.(1702-1704)gaA>gaG p.E568E ZRANB1_ENST00000471421.1_3'UTR NM_017580.2 NP_060050.2 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 568 OTU.|TRAF-binding. positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 23 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) TGTTGTGGGAACAGAGTTTTT 0.483 17 86 --- --- --- --- KRTAP5-1 387264 broad.mit.edu 37 11 1605854 1605854 + Missense_Mutation SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr11:1605854C>T ENST00000382171.2 - 1 659 c.626G>A c.(625-627)gGt>gAt p.G209D KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 209 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CACGGGCACACCGCAGCCGGA 0.662 10 72 --- --- --- --- FOLR3 2352 broad.mit.edu 37 11 71850740 71850740 + Missense_Mutation SNP C C G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr11:71850740C>G ENST00000445078.2 + 5 794 c.723C>G c.(721-723)aaC>aaG p.N241K FOLR3_ENST00000442948.2_Missense_Mutation_p.N200K|FOLR3_ENST00000456237.1_Missense_Mutation_p.N243K P41439 FOLR3_HUMAN folate receptor 3 (gamma) 199 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity large_intestine(3)|lung(8)|prostate(2) 13 Folic Acid(DB00158) AGGTCAGCAACTATAGTCGAG 0.602 4 44 --- --- --- --- TM7SF3 51768 broad.mit.edu 37 12 27152541 27152541 + Silent SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr12:27152541C>T ENST00000343028.4 - 3 540 c.315G>A c.(313-315)caG>caA p.Q105Q TM7SF3_ENST00000542667.1_5'UTR NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 105 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) TGCATGTACTCTGCTCTGGTC 0.473 12 30 --- --- --- --- MORN3 283385 broad.mit.edu 37 12 122107369 122107369 + Silent SNP T T C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr12:122107369T>C ENST00000355329.3 - 1 191 c.21A>G c.(19-21)ccA>ccG p.P7P NM_173855.4 NP_776254.3 Q6PF18 MORN3_HUMAN MORN repeat containing 3 7 breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) CCGACTTTTTTGGGCACTTAG 0.617 7 89 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46542010 46542010 + Missense_Mutation SNP T T A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr13:46542010T>A ENST00000242848.4 - 15 4298 c.3950A>T c.(3949-3951)gAt>gTt p.D1317V ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1317V|ZC3H13_ENST00000378921.2_Missense_Mutation_p.D273V Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1317 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ctgcctcgtatctctcctctc 0.502 17 58 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061231 38061231 + Missense_Mutation SNP A A T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr14:38061231A>T ENST00000250448.2 - 2 819 c.758T>A c.(757-759)aTg>aAg p.M253K FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.M220K NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 253 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding p.M253R(2)|p.M253K(2) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GTTCTCGAACATGTTGCCGGA 0.687 4 34 --- --- --- --- LTBP2 4053 broad.mit.edu 37 14 75022226 75022226 + Missense_Mutation SNP T T C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr14:75022226T>C ENST00000261978.4 - 4 1387 c.1001A>G c.(1000-1002)gAg>gGg p.E334G CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.E334G NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 334 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TGAGGGGTGCTCCAGAGGTAC 0.632 10 62 --- --- --- --- DYNC1H1 1778 broad.mit.edu 37 14 102482692 102482692 + Missense_Mutation SNP C C G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr14:102482692C>G ENST00000360184.4 + 37 7644 c.7480C>G c.(7480-7482)Ctg>Gtg p.L2494V NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2494 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 ATAGCGATATCTGGTTTATGC 0.408 6 49 --- --- --- --- LMAN1L 79748 broad.mit.edu 37 15 75114226 75114226 + Silent SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr15:75114226C>T ENST00000309664.5 + 10 1255 c.1116C>T c.(1114-1116)tcC>tcT p.S372S LMAN1L_ENST00000379709.3_Silent_p.S360S|RP11-414J4.2_ENST00000564823.1_RNA NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 372 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCCACCTCTCCATGTCACTCA 0.612 8 41 --- --- --- --- VPS35 55737 broad.mit.edu 37 16 46694501 46694501 + Missense_Mutation SNP T T G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr16:46694501T>G ENST00000299138.7 - 17 2332 c.2274A>C c.(2272-2274)gaA>gaC p.E758D NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 758 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CTTCACTGGATTCAAGATTCG 0.408 15 69 --- --- --- --- ZNF521 25925 broad.mit.edu 37 18 22805204 22805204 + Missense_Mutation SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr18:22805204G>A ENST00000361524.3 - 4 2826 c.2678C>T c.(2677-2679)gCa>gTa p.A893V ZNF521_ENST00000584787.1_Missense_Mutation_p.A673V|ZNF521_ENST00000538137.2_Missense_Mutation_p.A893V NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 893 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGTGTAGGCTGCCCCACAAAT 0.512 T PAX5 ALL 4 51 --- --- --- --- PLCB4 5332 broad.mit.edu 37 20 9370528 9370528 + Missense_Mutation SNP T T G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr20:9370528T>G ENST00000378501.2 + 13 1176 c.1161T>G c.(1159-1161)gaT>gaG p.D387E PLCB4_ENST00000378493.1_Missense_Mutation_p.D387E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D387E|PLCB4_ENST00000334005.3_Missense_Mutation_p.D387E|PLCB4_ENST00000278655.4_Missense_Mutation_p.D387E|PLCB4_ENST00000414679.2_Missense_Mutation_p.D387E|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 387 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTTTAAAGGATGTAATTCAAG 0.333 12 72 --- --- --- --- KIAA2022 340533 broad.mit.edu 37 X 73963818 73963818 + Missense_Mutation SNP T T A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chrX:73963818T>A ENST00000055682.6 - 3 1185 c.574A>T c.(574-576)Aat>Tat p.N192Y NM_001008537.2 NP_001008537.1 Q5QGS0 K2022_HUMAN KIAA2022 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TATTTCATATTTTCTCCAGCA 0.458 5 36 --- --- --- --- GPC4 2239 broad.mit.edu 37 X 132437323 132437323 + Missense_Mutation SNP T T A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chrX:132437323T>A ENST00000370828.3 - 8 1863 c.1339A>T c.(1339-1341)Aac>Tac p.N447Y GPC4_ENST00000535467.1_Missense_Mutation_p.N377Y NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 447 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) ACCTCTGGGTTGTTGCCCTGG 0.443 3 49 --- --- --- --- TRIP12 9320 broad.mit.edu 37 2 230656648 230656649 + Frame_Shift_Del DEL TC TC - TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr2:230656648_230656649delTC ENST00000283943.5 - 28 4301_4302 c.4123_4124delGA c.(4123-4125)gaafs p.E1375fs TRIP12_ENST00000389045.3_Frame_Shift_Del_p.E1105fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.E1423fs NM_001284214.1|NM_004238.1 NP_001271143.1|NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1375 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ATCTGTGGATTCTCTTTCATCT 0.396 16 98 --- --- --- ---