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 SYT11 23208 broad.mit.edu 37 1 155837993 155837993 + Missense_Mutation SNP G G A TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr1:155837993G>A ENST00000368324.4 + 2 525 c.272G>A c.(271-273)cGt>cAt p.R91H SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 91 cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) GAAGGTGGACGTAGGAACCTG 0.522000 8 69 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196581641 196581641 + Silent SNP C C T TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr2:196581641C>T ENST00000409086.3 + 7 2252 c.1977C>T c.(1975-1977)tcC>tcT p.S659S SLC39A10_ENST00000359634.5_Silent_p.S659S|SLC39A10_ENST00000541054.1_Silent_p.S209S NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 659 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) ATTCTGGATCCGATCTGAAAG 0.488000 17 68 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 4 66 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74825278 74825278 + Missense_Mutation SNP G G T TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr14:74825278G>T ENST00000256362.4 + 2 2033 c.1792G>T c.(1792-1794)Gat>Tat p.D598Y NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 598 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 TTCTTCAGAAGATGTAGAGGG 0.662000 11 28 0.010729 0.0111339 1 1 0 COL4A6 1288 broad.mit.edu 37 X 107423790 107423790 + Missense_Mutation SNP C C G TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chrX:107423790C>G ENST00000334504.7 - 25 2319 c.2086G>C c.(2086-2088)Gga>Cga p.G696R COL4A6_ENST00000394872.2_Missense_Mutation_p.G697R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G696R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G697R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G696R NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 697 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CCTGGCTCTCCTTTACTTCCA 0.517000 Alport syndrome with Diffuse Leiomyomatosis 3 36 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134084436 134084436 + Splice_Site SNP G G T TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr4:134084436G>T ENST00000264360.4 + 4 3928 c.3103_splice c.e4+1 p.L1034_splice NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 1034 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CACCATATTTGAGTAAGTATT 0.433000 20 37 5.35267e-07 6.13326e-07 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 4 52 0 0 1 0 0 ZCCHC7 84186 broad.mit.edu 37 9 37304308 37304308 + Nonsense_Mutation SNP C C T TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr9:37304308C>T ENST00000336755.5 + 4 884 c.778C>T c.(778-780)Cga>Tga p.R260* ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 260 nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) CCCCTTACCACGAGTACGTGA 0.438000 19 73 0 0 1 0 0 TUBBP1 0 broad.mit.edu 37 8 30210703 30210703 + RNA SNP T T G TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr8:30210703T>G ENST00000518096.1 + 0 1315 CCGGAAGGCCTTCCTCCACTG 0.572000 10 54 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143906 142143906 + RNA SNP G G C rs146728507 by1000genomes TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr7:142143906G>C ENST00000390373.2 - 0 89 TCTTCAGGACGTGGAATTTTG 0.527000 5 91 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803618 185803618 + Silent SNP T T G TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr2:185803618T>G ENST00000302277.6 + 4 4089 c.3495T>G c.(3493-3495)gcT>gcG p.A1165A NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1165 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CTTTTGTTGCTCCTCCTCAGA 0.512000 32 87 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11827215 11827215 + Missense_Mutation SNP C C T TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr17:11827215C>T ENST00000262442.3 + 62 11902 c.11834C>T c.(11833-11835)gCg>gTg p.A3945V DNAH9_ENST00000454412.2_Missense_Mutation_p.A3945V|DNAH9_ENST00000396001.2_Missense_Mutation_p.A257V NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3945 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCTGAGGCTGCGCTGGACCTC 0.493000 25 83 0 0 1 0 0 CHM 1121 broad.mit.edu 37 X 85213927 85213927 + Missense_Mutation SNP C C A TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chrX:85213927C>A ENST00000357749.2 - 6 787 c.758G>T c.(757-759)cGa>cTa p.R253L CHM_ENST00000537751.1_Missense_Mutation_p.R105L|CHM_ENST00000467744.1_Intron NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 253 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) CTCTGCATATCGACTAACATT 0.343000 17 10 5.3912e-06 6.05135e-06 1 1 0 TRBV5-4 0 broad.mit.edu 37 7 142168890 142168890 + RNA SNP C C T rs143671051 by1000genomes TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr7:142168890C>T ENST00000454561.2 - 0 155 GGGCTTGGTCCTCCTGGGGAA 0.592000 4 20 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113515329 113515329 + Silent SNP C C A TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr12:113515329C>A ENST00000257600.3 + 2 863 c.360C>A c.(358-360)gcC>gcA p.A120A NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 120 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding p.A120A(3) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CATGGACGGCCTACGATATGG 0.627000 5 51 1 1 1 1 0 TCF20 6942 broad.mit.edu 37 22 42605932 42605932 + Missense_Mutation SNP C C T TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr22:42605932C>T ENST00000359486.3 - 1 5516 c.5380G>A c.(5380-5382)Gac>Aac p.D1794N TCF20_ENST00000335626.4_Missense_Mutation_p.D1794N|TCF20_ENST00000404876.1_Missense_Mutation_p.D95N NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1794 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CCACCACAGTCTTCCGAGCGG 0.607000 33 65 0 0 1 0 0 KRTAP9-3 83900 broad.mit.edu 37 17 39389179 39389179 + Silent SNP C C A TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr17:39389179C>A ENST00000411528.2 + 1 465 c.426C>A c.(424-426)acC>acA p.T142T NM_031962.2 NP_114168.1 Q9BYQ3 KRA93_HUMAN keratin associated protein 9-3 142 16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI]. keratin filament protein binding breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1) 8 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCTGCAGGACCACTTGTTTCC 0.567000 4 148 3.59834e-05 3.88056e-05 1 1 0 MRGPRX4 117196 broad.mit.edu 37 11 18195549 18195549 + Missense_Mutation SNP T T C TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr11:18195549T>C ENST00000314254.3 + 1 1166 c.746T>C c.(745-747)tTa>tCa p.L249S RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 249 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TTGGAAGTCTTATATTGTCAT 0.502000 25 50 0 0 1 0 0 TMEM106B 54664 broad.mit.edu 37 7 12270040 12270040 + Missense_Mutation SNP T T C TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr7:12270040T>C ENST00000396667.2 + 7 930 c.608T>C c.(607-609)aTa>aCa p.I203T TMEM106B_ENST00000396668.3_Missense_Mutation_p.I203T NM_018374.3 NP_060844.2 Q9NUM4 T106B_HUMAN transmembrane protein 106B 203 integral to membrane NS(1)|endometrium(8)|large_intestine(2)|lung(7) 18 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) CCTACCGTTATAGCAGAGGAA 0.274000 16 58 0 0 1 0 0 APH1B 83464 broad.mit.edu 37 15 63569916 63569916 + Missense_Mutation SNP A A T TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr15:63569916A>T ENST00000261879.5 + 1 164 c.94A>T c.(94-96)Atc>Ttc p.I32F APH1B_ENST00000380343.4_Missense_Mutation_p.I32F NM_001145646.1|NM_031301.3 NP_001139118.1|NP_112591.2 Q8WW43 APH1B_HUMAN APH1B gamma secretase subunit 32 apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing integral to membrane|plasma membrane|transport vesicle peptidase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 12 GCCGTTGCGTATCATCTTCCT 0.692000 27 53 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 20 0 0 1 0 0 SOAT2 8435 broad.mit.edu 37 12 53512168 53512168 + Silent SNP C C T TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr12:53512168C>T ENST00000301466.3 + 8 873 c.813C>T c.(811-813)taC>taT p.Y271Y NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 271 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 TCTCCAGCTACCTCTACTTCC 0.572000 15 51 0 0 1 0 0 CHRM5 0 broad.mit.edu 37 15 34355863 34355863 + Silent SNP C C T rs151106804 TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr15:34355863C>T ENST00000383263.5 + 3 1615 c.945C>T c.(943-945)ccC>ccT p.P315P CHRM5_ENST00000557872.1_Silent_p.P315P NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 315 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) AGGACAAGCCCGCCACTGACC 0.552000 12 41 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397652 125397652 + Silent SNP T T C rs146795524 TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr12:125397652T>C ENST00000536769.1 - 1 2242 c.666A>G c.(664-666)gtA>gtG p.V222V UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron P0CG48 UBC_HUMAN ubiquitin C 222 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGACGGAGTACCAGGTGCA 0.512000 4 97 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38645123 38645123 + Missense_Mutation SNP G G A TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr17:38645123G>A ENST00000254051.6 - 3 696 c.538C>T c.(538-540)Cgc>Tgc p.R180C NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 180 Ser-rich. 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) CCACCACTGCGAAGGGAGCCG 0.632000 28 92 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73745591 73745591 + Missense_Mutation SNP T T C TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chrX:73745591T>C ENST00000276033.5 + 4 1421 c.1255T>C c.(1255-1257)Tat>Cat p.Y419H SLC16A2_ENST00000587091.1_Missense_Mutation_p.Y345H P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 345 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) TCAGATGAAGTATGTGGAGGA 0.507000 23 26 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43438030 43438030 + Silent SNP G G A TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr18:43438030G>A ENST00000282041.5 - 42 7264 c.7230C>T c.(7228-7230)tcC>tcT p.S2410S EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2410 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CTTCCTCCACGGAGCTAGGGG 0.468000 3 22 0 0 1 0 0 GLIPR1 11010 broad.mit.edu 37 12 75875623 75875623 + Missense_Mutation SNP C C G TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr12:75875623C>G ENST00000266659.3 + 2 385 c.184C>G c.(184-186)Cca>Gca p.P62A NM_006851.2 NP_006842.2 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 62 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 GACTTGGGACCCAGCACTAGC 0.453000 29 131 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143907 142143907 + RNA SNP T T C TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr7:142143907T>C ENST00000390373.2 - 0 88 CTTCAGGACGTGGAATTTTGG 0.527000 5 92 0 0 1 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 4 22 0 0 1 0 0 SLC43A2 124935 broad.mit.edu 37 17 1486509 1486509 + Missense_Mutation SNP G G C TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr17:1486509G>C ENST00000571650.1 - 12 1657 c.1351C>G c.(1351-1353)Ctg>Gtg p.L451V SLC43A2_ENST00000301335.4_Missense_Mutation_p.L447V|SLC43A2_ENST00000382147.4_Missense_Mutation_p.L451V|SLC43A2_ENST00000412517.3_Missense_Mutation_p.L310V Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 447 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) TGGAGAGGCAGGTTGGGAATG 0.577000 15 39 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 5 77 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16953672 16953672 + RNA SNP C C T rs3738597 by1000genomes TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr1:16953672C>T ENST00000412962.1 - 0 589 TCGGTCTTCTCGGCCTGCAGC 0.652000 5 45 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 42 0 0 1 0 0 RGL3 57139 broad.mit.edu 37 19 11512789 11512789 + Missense_Mutation SNP C C T TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr19:11512789C>T ENST00000380456.3 - 13 1445 c.1382G>A c.(1381-1383)cGc>cAc p.R461H RGL3_ENST00000393423.3_Missense_Mutation_p.R461H NM_001035223.2|NM_001161616.1 NP_001030300.2|NP_001155088.1 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation stimulator-like 3 461 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1) 18 CTGCTGGATGCGGGCCAGGAT 0.667000 11 16 0 0 1 0 0 INTS4 92105 broad.mit.edu 37 11 77635895 77635895 + Missense_Mutation SNP C C A TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr11:77635895C>A ENST00000534064.1 - 12 1449 c.1415G>T c.(1414-1416)tGc>tTc p.C472F INTS4_ENST00000529807.1_Missense_Mutation_p.C472F|INTS4_ENST00000525931.1_5'UTR NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 472 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) ATTAGTACAGCATAAGAGTTC 0.383000 3 26 0.004672 0.00494154 1 1 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 4 202 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23235889 23235889 + Missense_Mutation SNP A A T TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr14:23235889A>T ENST00000285848.5 + 1 159 c.159A>T c.(157-159)aaA>aaT p.K53N OXA1L_ENST00000604262.1_5'UTR NM_005015.3 NP_005006.3 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 0 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) CAGGCGCAAAAGCAAGTCCTC 0.592000 34 85 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072229 34072229 + Missense_Mutation SNP G G A TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr17:34072229G>A ENST00000254466.6 - 6 2314 c.2287C>T c.(2287-2289)Cgg>Tgg p.R763W GAS2L2_ENST00000587565.1_Missense_Mutation_p.R747W NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 763 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTGGGCTTCCGGAGAGTTCTC 0.607000 39 99 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104302620 104302620 + Missense_Mutation SNP T T A TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr9:104302620T>A ENST00000389120.3 + 3 355 c.265T>A c.(265-267)Tca>Aca p.S89T NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 89 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) TGATGATGCCTCACTATTGAT 0.423000 4 184 0 0 1 0 0 ZNF398 0 broad.mit.edu 37 7 148873589 148873589 + Missense_Mutation SNP T T C TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr7:148873589T>C ENST00000420008.2 + 5 966 c.178T>C c.(178-180)Tct>Cct p.S60P ZNF398_ENST00000491174.1_Missense_Mutation_p.S60P|ZNF398_ENST00000540950.1_Missense_Mutation_p.S236P|ZNF398_ENST00000475153.1_Missense_Mutation_p.S231P|ZNF398_ENST00000335901.4_Missense_Mutation_p.S60P|ZNF398_ENST00000483892.1_Missense_Mutation_p.S60P|ZNF398_ENST00000426851.2_Missense_Mutation_p.S60P NM_170686.2 NP_733787.1 Q8TD17 ZN398_HUMAN zinc finger protein 398 231 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) AGATATTCTGTCTTGGATTAA 0.403000 3 38 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 48 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29046692 29046692 + Silent SNP C C T TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr18:29046692C>T ENST00000257189.4 + 11 1694 c.1611C>T c.(1609-1611)gcC>gcT p.A537A NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 537 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGTTGCCTGCCGTATGGAGTA 0.413000 16 55 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16973254 16973254 + Missense_Mutation SNP G G A TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr19:16973254G>A ENST00000379803.1 + 9 1164 c.1150G>A c.(1150-1152)Ggg>Agg p.G384R SIN3B_ENST00000248054.5_Missense_Mutation_p.G384R NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 384 Interaction with NCOR1 (By similarity). cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 ATCCGGGGACGGGATAAGCCG 0.542000 14 34 0 0 1 0 0 ZNF841 284371 broad.mit.edu 37 19 52568806 52568806 + Missense_Mutation SNP G G A TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr19:52568806G>A ENST00000389534.4 - 7 2788 c.2329C>T c.(2329-2331)Cgc>Tgc p.R777C ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Missense_Mutation_p.R353C|ZNF841_ENST00000594295.1_Missense_Mutation_p.R777C|ZNF841_ENST00000426391.2_Missense_Mutation_p.R661C NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 661 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 AGGCCTGAGCGATAACGGAAG 0.428000 3 32 0 0 1 0 0 PHYH 5264 broad.mit.edu 37 10 13336427 13336427 + Splice_Site SNP C C T TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr10:13336427C>T ENST00000396920.3 - 4 762 c.e4+1 PHYH_ENST00000396913.2_Splice_Site|PHYH_ENST00000263038.4_Splice_Site O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TGGTCTCTGACCTCGGGGAGA 0.507000 9 29 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 3 5 --- --- --- --- CARHSP1 23589 broad.mit.edu 37 16 8949166 8949169 + Frame_Shift_Del DEL ACAT ACAT - TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr16:8949166_8949169delACAT ENST00000396593.2 - 4 655_658 c.296_299delATGT c.(295-300)tcfs p.YV99fs RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000561530.1_Frame_Shift_Del_p.YV99fs|CARHSP1_ENST00000311052.5_Frame_Shift_Del_p.YV99fs|CARHSP1_ENST00000567554.1_Frame_Shift_Del_p.YV99fs NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3 NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2 Q9Y2V2 CHSP1_HUMAN calcium regulated heat stable protein 1, 24kDa 99 CSD. intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|P granule DNA binding|mRNA 3'-UTR binding|phosphatase binding endometrium(2)|lung(1) 3 TTCCACTGGGACATACTCCCCTTC 0.569 7 32 --- --- --- --- CCDC144B 0 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 2 4 --- --- --- --- MYH14 79784 broad.mit.edu 37 19 50762446 50762446 + Frame_Shift_Del DEL A A - TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c79fa3-a242-4536-90de-33daeb65c445 34b3bfff-3049-4177-99a4-9ac6332a5ce9 g.chr19:50762446delA ENST00000440075.2 + 19 2325 c.2278delA c.(2278-2280)acfs p.N760fs MYH14_ENST00000376970.2_Frame_Shift_Del_p.N752fs|MYH14_ENST00000601313.1_Frame_Shift_Del_p.N760fs|MYH14_ENST00000598205.1_Frame_Shift_Del_p.N727fs|MYH14_ENST00000596571.1_Frame_Shift_Del_p.N719fs|MYH14_ENST00000425460.1_Frame_Shift_Del_p.N727fs|MYH14_ENST00000262269.8_Frame_Shift_Del_p.N760fs Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 719 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GCTTCGCTGCAACGGGGTCCT 0.711 2 4 --- --- --- ---