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 FAM83H 286077 broad.mit.edu 37 8 144808629 144808629 + Missense_Mutation SNP C C T TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr8:144808629C>T ENST00000388913.3 - 5 3127 c.3002G>A c.(3001-3003)cGt>cAt p.R1001H NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 1001 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAGTGACAGACGCCGCGGGCT 0.697000 6 8 0 0 0.248553 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795535 69795535 + Missense_Mutation SNP T T C TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr4:69795535T>C ENST00000251566.4 - 6 1610 c.1580A>G c.(1579-1581)gAa>gGa p.E527G UGT2A3_ENST00000420231.2_Missense_Mutation_p.E238G NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 527 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AAAGATCTATTCCCTCTTTTC 0.328000 35 67 0 0 0.779181 0 0 TPTE 7179 broad.mit.edu 37 21 11014937 11014937 + Splice_Site SNP C C T rs76467559 by1000genomes TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr21:11014937C>T ENST00000415664.2 - 6 808 c.e6+1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) CAGCACAATACCTATCACATT 0.328000 4 75 0 0 0.150653 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(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) TAAAGTCCTAGTTCACTCTCA 0.473000 5 89 5.18039e-06 5.88044e-06 0.278610 1 0 KIF20B 9585 broad.mit.edu 37 10 91477448 91477448 + Missense_Mutation SNP A A G TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr10:91477448A>G ENST00000416354.1 + 11 1312 c.1240A>G c.(1240-1242)Att>Gtt p.I414V KIF20B_ENST00000371728.3_Missense_Mutation_p.I414V|KIF20B_ENST00000260753.4_Missense_Mutation_p.I414V|KIF20B_ENST00000394289.2_Missense_Mutation_p.I414V Q96Q89 KI20B_HUMAN kinesin family member 20B 414 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 GGGAAAGTGTATTAACGTCTT 0.313000 6 194 0 0 0.217242 0 0 SFMBT2 57713 broad.mit.edu 37 10 7214050 7214050 + Missense_Mutation SNP C C T TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr10:7214050C>T ENST00000361972.4 - 19 2312 c.2222G>A c.(2221-2223)cGg>cAg p.R741Q SFMBT2_ENST00000397167.1_Missense_Mutation_p.R741Q NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 741 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CTGGTCATCCCGGAGCTCGGA 0.692000 9 16 0 0 0.387290 0 0 SLC7A3 84889 broad.mit.edu 37 X 70148834 70148834 + Missense_Mutation SNP C C A TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chrX:70148834C>A ENST00000374299.3 - 3 533 c.389G>T c.(388-390)cGg>cTg p.R130L SLC7A3_ENST00000298085.4_Missense_Mutation_p.R130L Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 130 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GCTCCAGGCCCGGGCCACACT 0.547000 3 46 0.00909568 0.00979535 0.150653 1 0 HPR 3250 broad.mit.edu 37 16 72110680 72110680 + Silent SNP C C T TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr16:72110680C>T ENST00000540303.2 + 5 779 c.747C>T c.(745-747)taC>taT p.Y249Y HPR_ENST00000356967.5_Silent_p.Y249Y|HPR_ENST00000228226.8_Silent_p.Y286Y|HPR_ENST00000561690.1_Intron NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 249 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) CTGACCAATACGATTGCATAA 0.507000 35 67 0 0 0.769981 0 0 TSHR 7253 broad.mit.edu 37 14 81610525 81610525 + Missense_Mutation SNP G G T TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr14:81610525G>T ENST00000541158.2 + 11 2445 c.2123G>T c.(2122-2124)gGg>gTg p.G708V RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.G708V P16473 TSHR_HUMAN thyroid stimulating hormone receptor 708 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) GCATACCGGGGGCAGAGGGTT 0.498000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 58 113 1.20869e-33 1.45043e-33 0.870114 1 0 OR14A16 284532 broad.mit.edu 37 1 247978653 247978653 + Missense_Mutation SNP G G T TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr1:247978653G>T ENST00000357627.1 - 1 378 c.379C>A c.(379-381)Cct>Act p.P127T NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TAGTGCAGAGGGTGACATATA 0.512000 55 126 1.14385e-22 1.3345e-22 0.870114 1 0 ZNF12 7559 broad.mit.edu 37 7 6737039 6737039 + Missense_Mutation SNP T T A TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr7:6737039T>A ENST00000405858.1 - 4 710 c.169A>T c.(169-171)Atc>Ttc p.I57F AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.I57F|ZNF12_ENST00000404360.1_Missense_Mutation_p.I21F NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 57 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) AACTTGCTGATAACATCCGGT 0.463000 10 14 0 0 0.435327 0 0 WDR75 84128 broad.mit.edu 37 2 190313123 190313123 + Silent SNP T T C TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr2:190313123T>C ENST00000314761.4 + 2 165 c.105T>C c.(103-105)tcT>tcC p.S35S NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 35 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TCTGTGTCTCTGGAGACTTTG 0.368000 33 55 0 0 0.769981 0 0 COL18A1 80781 broad.mit.edu 37 21 46925852 46925852 + Missense_Mutation SNP G G A TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr21:46925852G>A ENST00000359759.4 + 36 4454 c.4433G>A c.(4432-4434)cGc>cAc p.R1478H COL18A1_ENST00000355480.5_Missense_Mutation_p.R1243H|COL18A1_ENST00000400337.2_Missense_Mutation_p.R1063H|SLC19A1_ENST00000567670.1_Intron P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1478 Nonhelical region 11 (NC11). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CTCTACGTCCGCGTGCAGAAC 0.667000 41 91 0 0 0.847076 0 0 PDHB 5162 broad.mit.edu 37 3 58413838 58413838 + Missense_Mutation SNP C C A TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr3:58413838C>A ENST00000302746.6 - 10 1045 c.1003G>T c.(1003-1005)Gca>Tca p.A335S PDHB_ENST00000485460.1_Missense_Mutation_p.A317S|PDHB_ENST00000474765.1_3'UTR NM_000925.3|NM_001173468.1 NP_000916.2|NP_001166939.1 P11177 ODPB_HUMAN pyruvate dehydrogenase (lipoamide) beta 335 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187) NADH(DB00157)|Pyruvic acid(DB00119) AGAATCTTTGCATAAGGCATA 0.418000 3 71 0.115264 0.121027 0.115264 1 0 MUC4 4585 broad.mit.edu 37 3 195505813 195505813 + Missense_Mutation SNP T T C TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr3:195505813T>C ENST00000463781.3 - 2 13097 c.12638A>G c.(12637-12639)gAc>gGc p.D4213G MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.D4213G(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) TGAGGAAGTGTCGGTGACAGG 0.592000 2 3 0 0 0.115264 0 0 SMOC1 64093 broad.mit.edu 37 14 70490099 70490099 + Missense_Mutation SNP A A T TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr14:70490099A>T ENST00000381280.4 + 11 1479 c.1226A>T c.(1225-1227)gAc>gTc p.D409V SMOC1_ENST00000361956.3_Missense_Mutation_p.D409V NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 409 EF-hand 2. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) GACTACTGTGACCTGAACAAA 0.522000 5 176 0 0 0.184627 0 0 LCOR 84458 broad.mit.edu 37 10 98709000 98709000 + Missense_Mutation SNP C C G TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr10:98709000C>G ENST00000540664.1 + 6 729 c.186C>G c.(184-186)gaC>gaG p.D62E LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000371103.3_Missense_Mutation_p.D62E|LCOR_ENST00000371097.4_Missense_Mutation_p.D62E|LCOR_ENST00000356016.3_Missense_Mutation_p.D62E NM_001170765.1|NM_001170766.1 NP_001164236.1|NP_001164237.1 ligand dependent nuclear receptor corepressor endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1) 13 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) CTGACCAAGACTCACCTCTGG 0.483000 77 125 0 0 0.870114 0 0 GABRG3 2567 broad.mit.edu 37 15 27574011 27574011 + Missense_Mutation SNP T T C TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr15:27574011T>C ENST00000333743.6 + 5 804 c.550T>C c.(550-552)Tcc>Ccc p.S184P GABRG3_ENST00000555083.1_Missense_Mutation_p.S184P NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 184 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) GGACGAACACTCCTGCCCGCT 0.557000 14 31 0 0 0.457914 0 0 FAN1 22909 broad.mit.edu 37 15 31202868 31202868 + Missense_Mutation SNP A A G TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr15:31202868A>G ENST00000362065.4 + 4 1718 c.1427A>G c.(1426-1428)gAa>gGa p.E476G FAN1_ENST00000561594.1_Missense_Mutation_p.E476G|FAN1_ENST00000561607.1_Missense_Mutation_p.E476G|FAN1_ENST00000565466.1_Missense_Mutation_p.E476G NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 476 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 TCTGCTCCTGAACTAAAATCC 0.403000 Direct reversal of damage 6 108 0 0 0.248553 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 71 0 0 0.115264 0 0 PTPN5 84867 broad.mit.edu 37 11 18754164 18754164 + Missense_Mutation SNP T T C TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr11:18754164T>C ENST00000396170.1 - 12 2472 c.1208A>G c.(1207-1209)tAc>tGc p.Y403C PTPN5_ENST00000396171.4_Missense_Mutation_p.Y435C|PTPN5_ENST00000396168.1_Missense_Mutation_p.Y411C|PTPN5_ENST00000358540.2_Missense_Mutation_p.Y435C|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Missense_Mutation_p.Y403C|PTPN5_ENST00000477854.1_Missense_Mutation_p.Y239C NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 435 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 TCGCAGCCGGTAATCCTCCGT 0.592000 OREG0020824 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 258 0 0 0.278610 0 0 DMKN 93099 broad.mit.edu 37 19 36002345 36002345 + Missense_Mutation SNP T T C TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr19:36002345T>C ENST00000339686.3 - 5 1062 c.886A>G c.(886-888)Agc>Ggc p.S296G DMKN_ENST00000429837.1_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000447113.2_Missense_Mutation_p.S296G|DMKN_ENST00000440396.1_Missense_Mutation_p.S296G|DMKN_ENST00000424570.2_Missense_Mutation_p.S296G|DMKN_ENST00000418261.1_Missense_Mutation_p.S296G|DMKN_ENST00000451297.2_Missense_Mutation_p.S296G NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 296 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCACCTctgctgccaccactg 0.647000 6 4 0 0 0.411799 0 0 CLIP1 6249 broad.mit.edu 37 12 122758652 122758652 + Missense_Mutation SNP T T C TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr12:122758652T>C ENST00000358808.2 - 24 4145 c.3991A>G c.(3991-3993)Atg>Gtg p.M1331V CLIP1_ENST00000545889.1_Missense_Mutation_p.M917V|CLIP1_ENST00000540338.1_Missense_Mutation_p.M1342V|CLIP1_ENST00000537178.1_Missense_Mutation_p.M1296V|CLIP1_ENST00000361654.4_Missense_Mutation_p.M1220V|CLIP1_ENST00000302528.7_Missense_Mutation_p.M1331V|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000540539.1_Missense_Mutation_p.M21V NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1342 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TCCACCTTCATCTTGAGGTCT 0.343000 127 197 0 0 0.870114 0 0 FAM179A 165186 broad.mit.edu 37 2 29247207 29247207 + Missense_Mutation SNP G G A TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr2:29247207G>A ENST00000379558.4 + 13 2171 c.1820G>A c.(1819-1821)cGc>cAc p.R607H FAM179A_ENST00000403861.2_Missense_Mutation_p.R552H|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 607 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ACCCTTGCCCGCTCCCTGGTG 0.627000 5 19 0 0 0.217242 0 0 SLC25A36 55186 broad.mit.edu 37 3 140682063 140682063 + Missense_Mutation SNP A A G TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr3:140682063A>G ENST00000446041.2 + 4 604 c.379A>G c.(379-381)Atg>Gtg p.M127V SLC25A36_ENST00000507429.1_Missense_Mutation_p.M127V|SLC25A36_ENST00000453248.2_Missense_Mutation_p.M101V|SLC25A36_ENST00000324194.6_Missense_Mutation_p.M127V|SLC25A36_ENST00000393015.4_3'UTR NM_001104647.1|NM_018155.2 NP_001098117.1|NP_060625.2 Q96CQ1 S2536_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 127 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 TTCAGCTGCAATGGCAGGTAT 0.289000 45 85 0 0 0.840704 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227348328 227348328 + Silent SNP T T C TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr1:227348328T>C ENST00000366769.3 - 6 1900 c.609A>G c.(607-609)aaA>aaG p.K203K CDC42BPA_ENST00000366767.3_Silent_p.K203K|CDC42BPA_ENST00000366766.2_Silent_p.K203K|CDC42BPA_ENST00000334218.5_Silent_p.K203K|CDC42BPA_ENST00000366764.2_Silent_p.K203K|CDC42BPA_ENST00000366765.3_Silent_p.K203K|CDC42BPA_ENST00000535525.1_Silent_p.K203K NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 203 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TATTGTCAGGTTTAATGTCTC 0.284000 50 99 0 0 0.870114 0 0 DLX5 1749 broad.mit.edu 37 7 96651642 96651642 + Missense_Mutation SNP C C A TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr7:96651642C>A ENST00000222598.4 - 2 868 c.395G>T c.(394-396)gGc>gTc p.G132V DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.G132V NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 132 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CTTTGGTTTGCCATTCACCAT 0.463000 53 89 7.91745e-34 9.78038e-34 0.870114 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 28 63 0 0 0.729181 0 0 COL6A3 1293 broad.mit.edu 37 2 238280668 238280668 + Missense_Mutation SNP C C T TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr2:238280668C>T ENST00000295550.4 - 9 4444 c.3992G>A c.(3991-3993)cGc>cAc p.R1331H COL6A3_ENST00000346358.4_Missense_Mutation_p.R1131H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R924H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R724H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1125H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1125H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1130H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1125H NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1331 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTCTTCAATGCGGCTCCCCAG 0.632000 28 39 0 0 0.693898 0 0 WBP7 0 broad.mit.edu 37 19 36218411 36218411 + Missense_Mutation SNP C C T TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr19:36218411C>T ENST00000420124.1 + 16 4190 c.4190C>T c.(4189-4191)gCg>gTg p.A1397V WBP7_ENST00000222270.7_Missense_Mutation_p.A1397V|KMT2B_ENST00000607650.1_RNA GCTGGGGCAGCGCAGCCCCGC 0.657000 5 152 0 0 0.248553 0 0 AC027612.3 0 broad.mit.edu 37 2 91899558 91899559 + RNA INS - - AAAGAGGAAGGTAAGA rs141170900 by1000genomes TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr2:91899558_91899559insAAAGAGGAAGGTAAGA ENST00000436174.1 - 0 168 GATAAGGAGTCAAAGAGGAAGG 0.292 2 4 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67522794 67522795 + Frame_Shift_Ins INS - - G TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr5:67522794_67522795insG ENST00000521381.1 + 2 907_908 c.291_292insG c.(289-294)gtcaccfs p.T98fs PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.T98fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.T98fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.T98fs NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 98 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CTCTTCCTGTTGCACCAGGTTC 0.455 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 36 98 --- --- --- --- KDM4C 23081 broad.mit.edu 37 9 7128074 7128075 + Frame_Shift_Del DEL GG GG - TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr9:7128074_7128075delGG ENST00000381309.3 + 19 3184_3185 c.2619_2620delGG c.(2617-2622)aactfs p.KA873fs KDM4C_ENST00000428870.2_Frame_Shift_Del_p.KA560fs|KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000442236.2_Frame_Shift_Del_p.KA618fs|KDM4C_ENST00000381306.3_Frame_Shift_Del_p.KA873fs NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 873 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 AGAAGTCCAAGGCTTGCGAGAA 0.411 34 79 --- --- --- --- RP11-305P22.9 0 broad.mit.edu 37 20 61680465 61680473 + RNA DEL TCCTCTTCC TCCTCTTCC - rs13045094 by1000genomes TCGA-CS-4944-01A-01D-1468-08 TCGA-CS-4944-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 471d39e4-2d0b-4f56-8e98-216f5a1baf5d c4d192e1-a280-4ca9-963d-dc5efaacb683 g.chr20:61680465_61680473delTCCTCTTCC ENST00000607802.1 + 0 91 RP11-305P22.5_ENST00000455711.1_lincRNA NR_033370.1 ctcctcctcttcctcttcctcctcctcct 0.598 2 4 --- --- --- ---