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 SLC44A5 204962 broad.mit.edu 37 1 75708580 75708580 + Silent SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr1:75708580C>T ENST00000370855.5 - 8 575 c.462G>A c.(460-462)aaG>aaA p.K154K SLC44A5_ENST00000535611.1_Silent_p.K24K|SLC44A5_ENST00000370859.3_Silent_p.K154K NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 154 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CCTTCACAGGCTTAGCAGTGG 0.368 16 170 --- --- --- --- LRRC8B 23507 broad.mit.edu 37 1 90058587 90058587 + Nonsense_Mutation SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr1:90058587C>A ENST00000330947.2 + 6 2757 c.2397C>A c.(2395-2397)tgC>tgA p.C799* LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.C799*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.C799*|RP5-1007M22.2_ENST00000443562.1_RNA NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 799 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) TACAGACGTGCTTAGACAAAT 0.433 4 88 --- --- --- --- CLK2 1196 broad.mit.edu 37 1 155240637 155240637 + Silent SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr1:155240637C>T ENST00000368361.4 - 2 447 c.132G>A c.(130-132)cgG>cgA p.R44R CLK2_ENST00000536801.1_Silent_p.R44R|CLK2_ENST00000355560.4_Silent_p.R44R|CLK2_ENST00000361168.5_Silent_p.R44R P49760 CLK2_HUMAN CDC-like kinase 2 44 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTCGCCGACGCCGTCGTGTCC 0.552 Other conserved DNA damage response genes 16 215 --- --- --- --- ARHGEF11 9826 broad.mit.edu 37 1 156937915 156937915 + Splice_Site SNP G G A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr1:156937915G>A ENST00000368194.3 - 11 1866 c.827C>T c.(826-828)tCa>tTa p.S276L ARHGEF11_ENST00000361409.2_Splice_Site_p.S236L NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 236 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ATTCATCAATGACTAGAGAAA 0.517 15 46 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181701995 181701995 + Missense_Mutation SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr1:181701995C>A ENST00000526775.1 + 19 2881 c.2716C>A c.(2716-2718)Cgc>Agc p.R906S CACNA1E_ENST00000367570.1_Missense_Mutation_p.R925S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R906S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R876S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R532S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R857S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R925S NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 925 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCGGCATCGCCGCGTCAGGAC 0.652 5 187 --- --- --- --- TMEM63A 9725 broad.mit.edu 37 1 226059717 226059717 + Silent SNP G G A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr1:226059717G>A ENST00000366835.3 - 5 573 c.303C>T c.(301-303)tcC>tcT p.S101S NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 101 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) GTTGACCTGAGGAGGAAGTCG 0.438 4 22 --- --- --- --- SIPA1L2 57568 broad.mit.edu 37 1 232607141 232607141 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr1:232607141G>T ENST00000366630.1 - 7 2577 c.2219C>A c.(2218-2220)cCa>cAa p.P740Q SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P740Q Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 740 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.P740Q(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTCGGTACATGGATTATGCAC 0.433 5 143 --- --- --- --- MYT1L 23040 broad.mit.edu 37 2 1982977 1982977 + Missense_Mutation SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr2:1982977C>A ENST00000399161.2 - 8 859 c.112G>T c.(112-114)Ggc>Tgc p.G38C MYT1L_ENST00000428368.2_Missense_Mutation_p.G38C NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 38 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TGACCACTGCCGTCACAGCCA 0.512 3 27 --- --- --- --- BRE 9577 broad.mit.edu 37 2 28550226 28550226 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr2:28550226C>G ENST00000344773.2 + 12 1312 c.1174C>G c.(1174-1176)Cag>Gag p.Q392E BRE_ENST00000342045.2_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000361704.2_Intron NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 0 apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) CAAGCTGCTCCAGCCCCAGAG 0.557 29 182 --- --- --- --- LOXL3 84695 broad.mit.edu 37 2 74762839 74762839 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr2:74762839T>C ENST00000264094.3 - 8 1363 c.1292A>G c.(1291-1293)gAg>gGg p.E431G LOXL3_ENST00000393937.2_Missense_Mutation_p.E286G|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409986.1_Missense_Mutation_p.E286G|LOXL3_ENST00000409249.1_Intron NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 431 SRCR 4. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 TATTTGCACCTCGACTCGCCC 0.622 3 90 --- --- --- --- FANCD2OS 115795 broad.mit.edu 37 3 10145972 10145972 + Missense_Mutation SNP A A G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr3:10145972A>G ENST00000450660.2 - 2 703 c.487T>C c.(487-489)Tat>Cat p.Y163H FANCD2OS_ENST00000524279.1_Missense_Mutation_p.Y163H NM_001164839.1 NP_001158311.1 FANCD2 opposite strand TAAGTTGCATACAGCAAGAGG 0.483 33 77 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14561979 14561979 + RNA SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr3:14561979C>G ENST00000273083.3 - 0 843 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 AGCGAGATCCCCAGGGCAGAC 0.552 8 37 --- --- --- --- NEK4 6787 broad.mit.edu 37 3 52802507 52802507 + Missense_Mutation SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr3:52802507C>A ENST00000233027.5 - 2 409 c.207G>T c.(205-207)aaG>aaT p.K69N NEK4_ENST00000383721.4_Missense_Mutation_p.K69N|NEK4_ENST00000535191.1_Intron NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 69 Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) CCCATGACTCCTTGTAGGTGA 0.522 7 206 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14474130 14474130 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr5:14474130G>T ENST00000344204.4 + 40 6031 c.6007G>T c.(6007-6009)Ggt>Tgt p.G2003C TRIO_ENST00000537187.1_Missense_Mutation_p.G2003C NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2003 DH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GAAAGAAGATGGTGTTCCTGA 0.378 4 84 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14508079 14508079 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr5:14508079T>C ENST00000344204.4 + 57 8866 c.8842T>C c.(8842-8844)Tac>Cac p.Y2948H TRIO_ENST00000344135.5_Missense_Mutation_p.Y447H|TRIO_ENST00000537187.1_Missense_Mutation_p.Y2772H NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2948 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CACGACCTACTACATCCACCA 0.517 9 65 --- --- --- --- ZFYVE16 9765 broad.mit.edu 37 5 79732904 79732904 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr5:79732904G>T ENST00000338008.5 + 3 580 c.400G>T c.(400-402)Ggt>Tgt p.G134C ZFYVE16_ENST00000510158.1_Missense_Mutation_p.G134C|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.G134C NM_001284236.1|NM_014733.3 NP_001271165.1|NP_055548 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 134 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) AAGTGACATGGGTAACTTAGT 0.353 6 144 --- --- --- --- P4HA2 8974 broad.mit.edu 37 5 131544991 131544991 + Missense_Mutation SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr5:131544991C>A ENST00000401867.1 - 8 1311 c.743G>T c.(742-744)cGg>cTg p.R248L P4HA2_ENST00000360568.3_Missense_Mutation_p.R248L|P4HA2_ENST00000379086.1_Missense_Mutation_p.R248L|P4HA2_ENST00000379104.2_Missense_Mutation_p.R248L|P4HA2_ENST00000166534.4_Missense_Mutation_p.R248L|P4HA2_ENST00000379100.2_Missense_Mutation_p.R248L O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 248 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) CTCAAAGTACCGCAGATTCCC 0.443 5 276 --- --- --- --- PCDHA12 56137 broad.mit.edu 37 5 140256229 140256229 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr5:140256229C>T ENST00000398631.2 + 1 1172 c.1172C>T c.(1171-1173)cCt>cTt p.P391L PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACTGACACCTCATGTTCCC 0.567 21 135 --- --- --- --- SGCD 6444 broad.mit.edu 37 5 155935636 155935636 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr5:155935636C>G ENST00000435422.3 + 3 702 c.215C>G c.(214-216)aCa>aGa p.T72R SGCD_ENST00000517913.1_Missense_Mutation_p.T73R|SGCD_ENST00000337851.4_Missense_Mutation_p.T73R|SGCD_ENST00000447401.1_Missense_Mutation_p.T73R NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 72 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGAGGATCACAGAAAAAGGT 0.413 13 45 --- --- --- --- SPATS1 221409 broad.mit.edu 37 6 44337822 44337822 + Missense_Mutation SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr6:44337822C>A ENST00000288390.2 + 6 1077 c.730C>A c.(730-732)Cca>Aca p.P244T SPATS1_ENST00000323108.8_Missense_Mutation_p.P244T|RP11-444E17.6_ENST00000505802.1_3'UTR Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 244 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TACATTTATTCCACTTGAGCC 0.323 8 107 --- --- --- --- FAM83B 222584 broad.mit.edu 37 6 54735047 54735047 + Translation_Start_Site SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr6:54735047G>T ENST00000306858.7 + 2 119 c.3G>T c.(1-3)atG>atT p.M1I NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 1 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTGCAAGCATGGAGACCTCAT 0.383 4 76 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64412495 64412495 + Missense_Mutation SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr6:64412495C>A ENST00000262043.3 + 10 3537 c.3197C>A c.(3196-3198)cCa>cAa p.P1066Q PHF3_ENST00000393387.1_Missense_Mutation_p.P1066Q Q92576 PHF3_HUMAN PHD finger protein 3 1066 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AGTGATGCCCCAATGAAAGAA 0.383 5 102 --- --- --- --- GABRR1 2569 broad.mit.edu 37 6 89888605 89888605 + Silent SNP T T G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr6:89888605T>G ENST00000435811.1 - 9 1727 c.1273A>C c.(1273-1275)Aga>Cga p.R425R GABRR1_ENST00000454853.2_Silent_p.R442R|GABRR1_ENST00000369451.3_Silent_p.R355R NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 442 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) TAGCTGCTTCTCTGACTTTTC 0.478 14 100 --- --- --- --- CDK13 8621 broad.mit.edu 37 7 40132728 40132728 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr7:40132728C>G ENST00000181839.4 + 13 4185 c.3580C>G c.(3580-3582)Cag>Gag p.Q1194E CDK13_ENST00000340829.5_Missense_Mutation_p.Q1134E NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 1194 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 AATAAAGGCTCAGCAGTCAAA 0.502 32 165 --- --- --- --- TYW1 55253 broad.mit.edu 37 7 66489943 66489943 + Silent SNP G G A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr7:66489943G>A ENST00000359626.5 + 7 1082 c.918G>A c.(916-918)caG>caA p.Q306Q NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 306 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) AGGACCATCAGAGCCTAAATT 0.418 6 120 --- --- --- --- ZC3H3 23144 broad.mit.edu 37 8 144620720 144620720 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr8:144620720G>T ENST00000262577.5 - 2 848 c.817C>A c.(817-819)Cca>Aca p.P273T NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 273 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GACGGAACTGGCTGATCTGTG 0.652 18 144 --- --- --- --- C8orf82 414919 broad.mit.edu 37 8 145753101 145753101 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr8:145753101G>T ENST00000524821.1 - 3 491 c.276C>A c.(274-276)ttC>ttA p.F92L C8orf82_ENST00000313465.5_3'UTR Q6P1X6 CH082_HUMAN chromosome 8 open reading frame 82 92 endometrium(1)|urinary_tract(1) 2 AGAGGAAGGGGAAAGCGGCCT 0.687 4 21 --- --- --- --- ADAMTSL2 9719 broad.mit.edu 37 9 136405789 136405789 + Missense_Mutation SNP T T A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr9:136405789T>A ENST00000393061.3 + 6 1241 c.809T>A c.(808-810)cTc>cAc p.L270H ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L161H|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.L161H Q86TH1 ATL2_HUMAN ADAMTS-like 2 161 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) CAGCGGCAGCTCATGGTCCCC 0.557 18 54 --- --- --- --- HNRNPF 3185 broad.mit.edu 37 10 43883242 43883242 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr10:43883242G>T ENST00000443950.2 - 3 577 c.91C>A c.(91-93)Ctc>Atc p.L31I HNRNPF_ENST00000356053.3_Missense_Mutation_p.L31I|HNRNPF_ENST00000544000.1_Missense_Mutation_p.L31I|HNRNPF_ENST00000337970.3_Missense_Mutation_p.L31I|HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000357065.4_Missense_Mutation_p.L31I NM_001098208.1 NP_001091678.1 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 31 RRM 1. regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 CAGTCAGAGAGGAAGTTCTGC 0.552 5 57 --- --- --- --- SPTY2D1 144108 broad.mit.edu 37 11 18655745 18655745 + Splice_Site SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr11:18655745C>A ENST00000336349.5 - 1 295 c.60G>T c.(58-60)ccG>ccT p.P20P SPTY2D1_ENST00000543776.1_Intron NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 20 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 TGCTACTTACCGGCACATTGT 0.562 6 214 --- --- --- --- OR6T1 219874 broad.mit.edu 37 11 123813655 123813655 + Silent SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr11:123813655C>A ENST00000321252.2 - 1 925 c.891G>T c.(889-891)gtG>gtT p.V297V NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GTGCTTGCTGCACCTTGTCAT 0.502 26 295 --- --- --- --- ATP6V0A2 23545 broad.mit.edu 37 12 124212379 124212379 + Missense_Mutation SNP A A C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr12:124212379A>C ENST00000330342.3 + 6 819 c.571A>C c.(571-573)Atg>Ctg p.M191L NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 191 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) ATTTGAAAAAATGTTGTGGAG 0.408 23 61 --- --- --- --- MMP17 4326 broad.mit.edu 37 12 132335621 132335621 + Silent SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr12:132335621G>T ENST00000360564.1 + 10 1716 c.1614G>T c.(1612-1614)gcG>gcT p.A538A MMP17_ENST00000535004.1_Silent_p.A78A|MMP17_ENST00000535291.1_Silent_p.A454A NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) 538 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) GCGTGGACGCGGCAGAGGGGC 0.692 3 21 --- --- --- --- FRY 10129 broad.mit.edu 37 13 32676131 32676131 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr13:32676131G>T ENST00000380250.3 + 3 798 c.302G>T c.(301-303)gGa>gTa p.G101V NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTGCAACGTGGAGAAGACCCC 0.333 5 78 --- --- --- --- SERPINA13P 388007 broad.mit.edu 37 14 95109845 95109845 + RNA SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr14:95109845C>A ENST00000469935.1 + 0 882 NR_015340.1 GCCACCAGCCCAAAGGAGTTC 0.577 4 61 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62204152 62204152 + Missense_Mutation SNP G G C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr15:62204152G>C ENST00000261517.5 - 63 8675 c.8602C>G c.(8602-8604)Ctg>Gtg p.L2868V VPS13C_ENST00000395896.4_Missense_Mutation_p.L2868V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L2825V|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2825V NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2868 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AAGGGAGTCAGGGTAACTATT 0.368 12 53 --- --- --- --- SMAD6 4091 broad.mit.edu 37 15 67073658 67073658 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr15:67073658G>T ENST00000288840.5 + 4 2307 c.1276G>T c.(1276-1278)Gtc>Ttc p.V426F SMAD6_ENST00000338426.4_Missense_Mutation_p.V165F NM_005585.4 NP_005576.3 O43541 SMAD6_HUMAN SMAD family member 6 426 MH2. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 CCGCGCCCTGGTCGTGCGCAA 0.731 9 42 --- --- --- --- PCSK6 5046 broad.mit.edu 37 15 101983834 101983834 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr15:101983834T>C ENST00000348070.1 - 3 325 c.326A>G c.(325-327)tAt>tGt p.Y109C PCSK6_ENST00000398181.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y109C NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 110 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTTGCTGTGATAAAAATGGTA 0.443 26 169 --- --- --- --- IRF8 3394 broad.mit.edu 37 16 85936654 85936654 + Silent SNP A A C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr16:85936654A>C ENST00000268638.5 + 2 455 c.33A>C c.(31-33)cgA>cgC p.R11R IRF8_ENST00000563180.1_Silent_p.R11R NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 11 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) GGCGGCTTCGACAGTGGCTGA 0.488 27 167 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578404 7578404 + Missense_Mutation SNP A A G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr17:7578404A>G ENST00000420246.2 - 5 658 c.526T>C c.(526-528)Tgc>Cgc p.C176R TP53_ENST00000359597.4_Missense_Mutation_p.C176R|TP53_ENST00000413465.2_Missense_Mutation_p.C176R|TP53_ENST00000445888.2_Missense_Mutation_p.C176R|TP53_ENST00000269305.4_Missense_Mutation_p.C176R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(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) TGGTGGGGGCAGCGCCTCACA 0.647 111 """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) 22 56 --- --- --- --- TNS4 84951 broad.mit.edu 37 17 38638448 38638448 + Silent SNP A A T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr17:38638448A>T ENST00000254051.6 - 8 1763 c.1605T>A c.(1603-1605)tcT>tcA p.S535S NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 535 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) ACACGAAGGCAGAGAGGCTCC 0.622 4 47 --- --- --- --- ITGB4 3691 broad.mit.edu 37 17 73725380 73725380 + Missense_Mutation SNP T T G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr17:73725380T>G ENST00000200181.3 + 7 788 c.601T>G c.(601-603)Ttc>Gtc p.F201V ITGB4_ENST00000579662.1_Missense_Mutation_p.F201V|ITGB4_ENST00000450894.3_Missense_Mutation_p.F201V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.F201V|ITGB4_ENST00000339591.3_Missense_Mutation_p.F201V NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 201 VWFA. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TGACCCCCCCTTCTCCTTCAA 0.607 11 71 --- --- --- --- PYCR1 5831 broad.mit.edu 37 17 79892256 79892256 + Missense_Mutation SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr17:79892256C>A ENST00000337943.5 - 6 1185 c.743G>T c.(742-744)gGg>gTg p.G248V PYCR1_ENST00000329875.8_Missense_Mutation_p.G248V|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000402252.2_Missense_Mutation_p.G275V|PYCR1_ENST00000403172.4_Missense_Mutation_p.G217V NM_153824.1 NP_722546.1 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 248 cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) GCGGAAGCCCCCACTCTCCAG 0.642 4 38 --- --- --- --- CEP76 79959 broad.mit.edu 37 18 12678245 12678245 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr18:12678245T>C ENST00000262127.2 - 10 1711 c.1486A>G c.(1486-1488)Att>Gtt p.I496V CEP76_ENST00000423709.2_Missense_Mutation_p.I421V|PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 496 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACAGATTTAATTGCTTCCTCA 0.433 40 122 --- --- --- --- ZNF236 7776 broad.mit.edu 37 18 74587566 74587566 + Silent SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr18:74587566C>A ENST00000253159.8 + 6 978 c.780C>A c.(778-780)gcC>gcA p.A260A ZNF236_ENST00000320610.9_Silent_p.A262A NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 260 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TCTGTCCTGCCGCCTTCTCTC 0.532 OREG0025069 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 137 --- --- --- --- NWD1 284434 broad.mit.edu 37 19 16902377 16902377 + Missense_Mutation SNP T T G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr19:16902377T>G ENST00000524140.2 + 14 3575 c.3157T>G c.(3157-3159)Tca>Gca p.S1053A NWD1_ENST00000549814.1_Missense_Mutation_p.S1053A|NWD1_ENST00000523826.1_Missense_Mutation_p.S847A|NWD1_ENST00000339803.6_Missense_Mutation_p.S918A|NWD1_ENST00000379808.3_Missense_Mutation_p.S1053A|NWD1_ENST00000552788.1_Missense_Mutation_p.S1053A NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1053 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTGTGCCGTCTCAGTCCAGAA 0.478 13 141 --- --- --- --- LILRA1 11024 broad.mit.edu 37 19 55106382 55106382 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr19:55106382C>T ENST00000453777.1 + 4 493 c.323C>T c.(322-324)tCa>tTa p.S108L LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.S108L|LILRB1_ENST00000396321.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 108 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCAGGCTGGTCAGAGCCCAGT 0.612 28 72 --- --- --- --- ZNF551 90233 broad.mit.edu 37 19 58198616 58198616 + Missense_Mutation SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr19:58198616C>A ENST00000282296.5 + 3 1158 c.973C>A c.(973-975)Cac>Aac p.H325N AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.H309N Q7Z340 ZN551_HUMAN zinc finger protein 551 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ATTCATTCACCACCAGAGACG 0.428 4 91 --- --- --- --- TUBGCP6 85378 broad.mit.edu 37 22 50658944 50658944 + Missense_Mutation SNP G G C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr22:50658944G>C ENST00000439308.2 - 16 4336 c.3844C>G c.(3844-3846)Ctc>Gtc p.L1282V TUBGCP6_ENST00000248846.5_Missense_Mutation_p.L1282V|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1282 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCTGGTGAGAGAGCCCCCAGC 0.652 6 27 --- --- --- --- ZNF449 203523 broad.mit.edu 37 X 134494270 134494270 + Missense_Mutation SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chrX:134494270C>A ENST00000339249.4 + 5 966 c.826C>A c.(826-828)Ccc>Acc p.P276T NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 276 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ATGGGAAACCCCCCCAGAGGA 0.438 4 76 --- --- --- --- CD63 967 broad.mit.edu 37 12 56119956 56119956 + Frame_Shift_Del DEL A A - TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr12:56119956delA ENST00000549117.1 - 6 952 c.516delT c.(514-516)aatfs p.N172fs CD63_ENST00000552754.1_Frame_Shift_Del_p.N149fs|CD63_ENST00000552692.1_Frame_Shift_Del_p.N172fs|CD63_ENST00000420846.3_Frame_Shift_Del_p.N172fs|CD63_ENST00000548160.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000546939.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000552067.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000548898.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000257857.4_Frame_Shift_Del_p.N172fs|CD63_ENST00000550776.1_Frame_Shift_Del_p.N90fs NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 172 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 CCACAGTAACATTAATGCAGC 0.498 13 99 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72831219 72831223 + Frame_Shift_Del DEL GCAGG GCAGG - TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr16:72831219_72831223delGCAGG ENST00000268489.5 - 9 6030_6034 c.5358_5362delCCTGC c.(5356-5364)accctgctgfs p.LL1787fs ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.LL873fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1787 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TGTAGTTGCAGCAGGGTCTCAGTTG 0.580 7 146 --- --- --- --- TSPAN7 7102 broad.mit.edu 37 X 38525456 38525456 + Frame_Shift_Del DEL T T - TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chrX:38525456delT ENST00000378482.2 + 2 340 c.163delT c.(163-165)tccfs p.S55fs TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.S85fs|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.S81fs|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.S29fs|TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.S72fs NM_004615.3 NP_004606.2 P41732 TSN7_HUMAN tetraspanin 7 55 interspecies interaction between organisms integral to plasma membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGCCGAGAACTCCACAAATGC 0.512 17 38 --- --- --- ---