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 MST1P9 11223 broad.mit.edu 37 1 17087593 17087593 + Silent SNP C T T rs12145944 by1000genomes TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr1:17087593C>T uc010ock.1 - 2 72 c.72G>A c.(70-72)CAG>CAA p.Q24Q CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'Flank NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 ATGGCGAGCGCTGCCCTGCAG 0.577 GRHL3 57822 broad.mit.edu 37 1 24669384 24669384 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr1:24669384G>A uc001biy.2 + 11 1349 c.1303G>A c.(1303-1305)GTC>ATC p.V435I GRHL3_uc001bix.2_Missense_Mutation_p.V430I|GRHL3_uc001biz.2_Missense_Mutation_p.V337I NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 430 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CCCATCAGGCGTCAAGGGCTG 0.632 YTHDF2 51441 broad.mit.edu 37 1 29069013 29069013 + Silent SNP G A A rs11553689 TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr1:29069013G>A uc001brc.2 + 4 728 c.231G>A c.(229-231)ACG>ACA p.T77T YTHDF2_uc001brd.2_Silent_p.T74T|YTHDF2_uc010ofx.1_Silent_p.T27T|YTHDF2_uc001bre.2_Silent_p.T27T NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 77 humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) CTTGGTCTACGGGGGGTGACA 0.502 BRDT 676 broad.mit.edu 37 1 92445139 92445139 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr1:92445139C>T uc001dok.3 + 8 1461 c.1112C>T c.(1111-1113)ACG>ATG p.T371M BRDT_uc001dol.3_Missense_Mutation_p.T371M|BRDT_uc010osz.1_Missense_Mutation_p.T375M|BRDT_uc009wdf.2_Missense_Mutation_p.T298M|BRDT_uc010ota.1_Missense_Mutation_p.T325M|BRDT_uc010otb.1_Missense_Mutation_p.T325M|BRDT_uc001dom.3_Missense_Mutation_p.T371M NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GTTTTCGAAACGCATTTTTCA 0.318 APH1A 51107 broad.mit.edu 37 1 150241179 150241179 + Missense_Mutation SNP A G G TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr1:150241179A>G uc001ety.1 - 1 354 c.32T>C c.(31-33)TTC>TCC p.F11S APH1A_uc010pbx.1_Missense_Mutation_p.F11S|APH1A_uc001etz.1_Missense_Mutation_p.F11S|APH1A_uc001eua.1_Missense_Mutation_p.F11S|APH1A_uc010pby.1_Missense_Mutation_p.F11S|APH1A_uc001eub.1_5'UTR|APH1A_uc010pbz.1_5'UTR NM_001077628 NP_001071096 Q96BI3 APH1A_HUMAN anterior pharynx defective 1 homolog A isoform 11 Helical; Name=1; (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane protein binding ovary(1)|lung(1) 2 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GAACGCGACGAAAGTGCAGCC 0.662 OR6N2 81442 broad.mit.edu 37 1 158746549 158746549 + Missense_Mutation SNP G A A rs144962739 TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr1:158746549G>A uc010pir.1 - 1 877 c.877C>T c.(877-879)CGT>TGT p.R293C NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) TCCTTGTTACGAAGACTGTAG 0.418 C1orf220 400798 broad.mit.edu 37 1 178514898 178514898 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr1:178514898G>A uc001glx.1 + 2 641 c.284G>A c.(283-285)CGT>CAT p.R95H C1orf49_uc001glv.1_Intron NM_207467 NP_997350 hypothetical protein LOC400798 0 CAGTTTGTTCGTCAAAGGGCC 0.483 GPR25 2848 broad.mit.edu 37 1 200842843 200842843 + Silent SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr1:200842843G>A uc001gvn.1 + 1 678 c.678G>A c.(676-678)TCG>TCA p.S226S NM_005298 NP_005289 O00155 GPR25_HUMAN G protein-coupled receptor 25 226 Cytoplasmic (Potential). integral to plasma membrane ovary(1) 1 GCCGCATCTCGCGCCGCCTGC 0.682 DUSP10 11221 broad.mit.edu 37 1 221879666 221879666 + Missense_Mutation SNP C G G TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr1:221879666C>G uc001hmy.1 - 3 1136 c.954G>C c.(952-954)GAG>GAC p.E318D DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 318 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) GCTCAGCGTTCTCGATGTCAG 0.632 RET 5979 broad.mit.edu 37 10 43606701 43606701 + Missense_Mutation SNP A T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr10:43606701A>T uc001jal.2 + 7 1500 c.1310A>T c.(1309-1311)AAC>ATC p.N437I RET_uc001jak.1_Missense_Mutation_p.N437I|RET_uc010qez.1_Missense_Mutation_p.N183I NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 437 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) AGTGGCATCAACGTCCAGTAC 0.582 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma DNMBP 23268 broad.mit.edu 37 10 101716663 101716663 + Nonsense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr10:101716663G>A uc001kqj.2 - 4 660 c.568C>T c.(568-570)CGA>TGA p.R190* NCRNA00093_uc001kqk.1_RNA NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 190 SH3 3. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) ATGCCTCTTCGGCCCTCTAAC 0.488 MKI67 4288 broad.mit.edu 37 10 129901328 129901329 + Frame_Shift_Del DEL GA - - rs61729202 byFrequency TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr10:129901328_129901329delGA uc001lke.2 - 13 8970_8971 c.8775_8776delTC c.(8773-8778)TCTCAAfs p.S2925fs MKI67_uc001lkf.2_Frame_Shift_Del_p.S2565fs|MKI67_uc009yav.1_Frame_Shift_Del_p.S2500fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.S2075fs NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2925_2926 16 X 122 AA approximate repeats.|16. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCTGGTGTTTGAGAGAGCTCTT 0.505 ATHL1 80162 broad.mit.edu 37 11 294169 294169 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr11:294169C>T uc010qvu.1 + 12 1896 c.1781C>T c.(1780-1782)GCG>GTG p.A594V ATHL1_uc001lor.3_Missense_Mutation_p.A346V|ATHL1_uc001lou.3_Missense_Mutation_p.A169V|ATHL1_uc001lov.3_Missense_Mutation_p.A55V NM_025092 NP_079368 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 594 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds liver(1)|central_nervous_system(1)|skin(1) 3 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) TTCCTGCAGGCGGTGGTCTTC 0.652 TNNT3 7140 broad.mit.edu 37 11 1956149 1956149 + Silent SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr11:1956149C>T uc001luu.3 + 14 893 c.681C>T c.(679-681)GAC>GAT p.D227D TNNT3_uc001lun.2_Silent_p.D123D|TNNT3_uc001luw.3_Silent_p.D219D|TNNT3_uc001luo.3_Silent_p.D219D|TNNT3_uc001lup.3_Silent_p.D225D|TNNT3_uc001luq.3_Silent_p.D219D|TNNT3_uc001lur.2_Silent_p.D219D|TNNT3_uc010qxf.1_Silent_p.D225D|TNNT3_uc010qxg.1_Silent_p.D159D NM_006757 NP_006748 P45378 TNNT3_HUMAN troponin T3, skeletal, fast isoform 1 238 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) AGAAATATGACGTGAGTCCCG 0.617 SLC6A5 9152 broad.mit.edu 37 11 20648387 20648387 + Missense_Mutation SNP C T T rs146647574 byFrequency TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr11:20648387C>T uc001mqd.2 + 8 1667 c.1394C>T c.(1393-1395)ACG>ATG p.T465M SLC6A5_uc009yic.2_Missense_Mutation_p.T230M NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 465 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) ACGGATGCCACGGTGGGCTTC 0.562 CHST1 8534 broad.mit.edu 37 11 45671489 45671489 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr11:45671489C>T uc001mys.1 - 4 1656 c.985G>A c.(985-987)GCC>ACC p.A329T NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 329 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) ATCCAGCGGGCCACGTGGCTG 0.632 TCN1 6947 broad.mit.edu 37 11 59629106 59629106 + Missense_Mutation SNP G C C rs139772818 by1000genomes TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr11:59629106G>C uc001noj.2 - 4 548 c.450C>G c.(448-450)GAC>GAG p.D150E NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 150 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGGCCAAAACGTCCAGGCTGA 0.438 KDELC2 143888 broad.mit.edu 37 11 108352840 108352840 + Missense_Mutation SNP G C C TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr11:108352840G>C uc001pkj.2 - 4 860 c.794C>G c.(793-795)TCT>TGT p.S265C KDELC2_uc001pki.2_Missense_Mutation_p.S209C NM_153705 NP_714916 Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 precursor 265 endoplasmic reticulum lumen ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) TGAATCCAGAGAGCCACACCA 0.453 AMICA1 120425 broad.mit.edu 37 11 118085599 118085599 + Translation_Start_Site SNP A T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr11:118085599A>T uc001psk.2 - 2 157 c.-17T>A c.(-19--15)ATTTG>ATATG AMICA1_uc001psh.2_5'Flank|AMICA1_uc009yzw.1_5'Flank|AMICA1_uc001psi.2_5'Flank|AMICA1_uc001psj.2_Translation_Start_Site|AMICA1_uc010rxw.1_Intron|AMICA1_uc010rxx.1_Translation_Start_Site|AMICA1_uc001psl.1_5'Flank NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TCAACTTTCAAATCTTAAGAT 0.299 ALG10B 144245 broad.mit.edu 37 12 38714180 38714180 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr12:38714180G>A uc001rln.3 + 3 726 c.587G>A c.(586-588)TGT>TAT p.C196Y ALG10B_uc001rlo.3_Missense_Mutation_p.C166Y|ALG10B_uc010skk.1_Missense_Mutation_p.C136Y NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN asparagine-linked glycosylation 10 homolog B 196 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|skin(1) 3 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) GCTGTCTTCTGTGCAGGGAAT 0.398 MYO1A 4640 broad.mit.edu 37 12 57442017 57442017 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr12:57442017G>A uc001smw.3 - 2 334 c.91C>T c.(91-93)CGC>TGC p.R31C MYO1A_uc010sqz.1_5'Flank|MYO1A_uc009zpd.2_Missense_Mutation_p.R31C NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 31 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 TTTTCATAGCGAAGCTGAAGA 0.542 SLC17A8 246213 broad.mit.edu 37 12 100787226 100787226 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr12:100787226G>A uc010svi.1 + 4 866 c.553G>A c.(553-555)GTC>ATC p.V185I SLC17A8_uc009ztx.2_Missense_Mutation_p.V185I NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 185 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 TTACGGATGCGTCATGTGTGT 0.448 CLEC14A 161198 broad.mit.edu 37 14 38724727 38724727 + Silent SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr14:38724727G>A uc001wum.1 - 1 848 c.501C>T c.(499-501)AAC>AAT p.N167N NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 167 Extracellular (Potential).|C-type lectin. integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) ACAGGTAGCCGTTGGCGCGCA 0.577 SOS2 6655 broad.mit.edu 37 14 50626273 50626273 + Silent SNP T C C TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr14:50626273T>C uc001wxs.3 - 10 1826 c.1728A>G c.(1726-1728)GTA>GTG p.V576V SOS2_uc010tql.1_Silent_p.V543V|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Silent_p.V264V NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 576 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 cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) AGTCTTTTACTACAAAACGAT 0.333 C14orf145 145508 broad.mit.edu 37 14 81223256 81223256 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr14:81223256G>A uc001xux.2 - 17 2764 c.2593C>T c.(2593-2595)CGC>TGC p.R865C C14orf145_uc010asz.1_RNA NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 865 centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) GCTAACCAGCGATGTGGGTCA 0.289 KIF26A 26153 broad.mit.edu 37 14 104639702 104639702 + Silent SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr14:104639702C>T uc001yos.3 + 9 1719 c.1719C>T c.(1717-1719)GCC>GCT p.A573A NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 573 Kinesin-motor. blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CACCCACGGCCGAGAAGGCGG 0.692 OR4N3P 390539 broad.mit.edu 37 15 22414053 22414053 + Missense_Mutation SNP C A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr15:22414053C>A uc001yuf.2 + 1 352 c.352C>A c.(352-354)CTG>ATG p.L118M NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 GGTGGAGCTTCTGATGGTCTT 0.507 SH3GL3 6457 broad.mit.edu 37 15 84237359 84237359 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr15:84237359C>T uc002bjw.2 + 4 461 c.266C>T c.(265-267)ACG>ATG p.T89M SH3GL3_uc010uot.1_Missense_Mutation_p.T89M|SH3GL3_uc002bjx.2_Missense_Mutation_p.T20M|SH3GL3_uc002bju.2_Missense_Mutation_p.T97M|SH3GL3_uc002bjv.2_RNA NM_003027 NP_003018 Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 89 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding pancreas(1)|central_nervous_system(1)|skin(1) 3 TACCCGCAGACGGAAGGCTTG 0.507 UNC45A 55898 broad.mit.edu 37 15 91483616 91483616 + Missense_Mutation SNP G C C TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr15:91483616G>C uc002bqg.2 + 6 940 c.600G>C c.(598-600)TTG>TTC p.L200F UNC45A_uc002bqd.2_Missense_Mutation_p.L185F|UNC45A_uc010uqo.1_Missense_Mutation_p.L192F|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Missense_Mutation_p.L200F NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 200 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TTCAGCTCTTGCAACGTTTAC 0.567 SEZ6L2 26470 broad.mit.edu 37 16 29884701 29884701 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr16:29884701G>A uc002duq.3 - 14 2588 c.2348C>T c.(2347-2349)ACG>ATG p.T783M uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T713M|SEZ6L2_uc002dur.3_Missense_Mutation_p.T713M|SEZ6L2_uc002dus.3_Missense_Mutation_p.T669M|SEZ6L2_uc010vec.1_Missense_Mutation_p.T783M|SEZ6L2_uc010ved.1_Missense_Mutation_p.T739M NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 783 Sushi 5.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 CTTGTACAGCGTCTGGTAGCC 0.622 MYH1 4619 broad.mit.edu 37 17 10406199 10406199 + Silent SNP C A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr17:10406199C>A uc002gmo.2 - 24 3061 c.2967G>T c.(2965-2967)CTG>CTT p.L989L uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 989 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TGGTTTCATCCAGACCCGCCA 0.507 SLFN13 146857 broad.mit.edu 37 17 33767745 33767745 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr17:33767745G>A uc002hjk.1 - 4 2893 c.2563C>T c.(2563-2565)CGG>TGG p.R855W SLFN13_uc010wch.1_Missense_Mutation_p.R855W|SLFN13_uc002hjl.2_Missense_Mutation_p.R855W|SLFN13_uc010ctt.2_Missense_Mutation_p.R537W|SLFN13_uc002hjm.2_Missense_Mutation_p.R524W NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 855 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GAGAATCGCCGGACACTGTCC 0.483 KRTAP1-3 81850 broad.mit.edu 37 17 39190659 39190659 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr17:39190659C>T uc002hvv.2 - 1 449 c.415G>A c.(415-417)GCC>ACC p.A139T NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 149 extracellular region|keratin filament structural constituent of epidermis 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GAGGCCTCGGCGTGGTGCAGC 0.652 OR4D2 124538 broad.mit.edu 37 17 56247206 56247206 + Nonsense_Mutation SNP C T T rs148589207 TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr17:56247206C>T uc010wnp.1 + 1 190 c.190C>T c.(190-192)CGA>TGA p.R64* NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 CTTTCTGCTCCGAAACCTGGC 0.483 EPB41L3 23136 broad.mit.edu 37 18 5395100 5395100 + Missense_Mutation SNP A G G TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr18:5395100A>G uc002kmt.1 - 21 3205 c.3119T>C c.(3118-3120)GTC>GCC p.V1040A EPB41L3_uc010wzh.1_Missense_Mutation_p.V871A|EPB41L3_uc002kmu.1_Missense_Mutation_p.V818A|EPB41L3_uc010dkq.1_Missense_Mutation_p.V709A|EPB41L3_uc002kms.1_Missense_Mutation_p.V275A|EPB41L3_uc010wze.1_Missense_Mutation_p.V345A|EPB41L3_uc010wzf.1_Missense_Mutation_p.V337A|EPB41L3_uc010wzg.1_Missense_Mutation_p.V312A|EPB41L3_uc010dkr.2_Missense_Mutation_p.V432A NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1040 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CCCCGTGATGACTATTCGCTT 0.448 MC5R 4161 broad.mit.edu 37 18 13826447 13826447 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr18:13826447C>T uc010xaf.1 + 1 683 c.683C>T c.(682-684)GCG>GTG p.A228V NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 228 Cytoplasmic (Potential). ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 GCCAGCTCTGCGCGGCAGAGG 0.612 CDH19 28513 broad.mit.edu 37 18 64218345 64218345 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr18:64218345G>A uc002lkc.1 - 5 899 c.761C>T c.(760-762)CCT>CTT p.P254L CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.P254L|CDH19_uc002lkd.2_Missense_Mutation_p.P254L NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 254 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TTTAAATATAGGCTTATTGTC 0.294 NFIX 4784 broad.mit.edu 37 19 13189498 13189498 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr19:13189498C>T uc010xmx.1 + 7 1104 c.1051C>T c.(1051-1053)CGC>TGC p.R351C NFIX_uc002mwd.2_Missense_Mutation_p.R343C|NFIX_uc002mwe.2_Missense_Mutation_p.R335C|NFIX_uc002mwf.2_Intron|NFIX_uc002mwg.1_Missense_Mutation_p.R342C Q14938 NFIX_HUMAN RecName: Full=Nuclear factor 1; 343 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) CAGCTCCCCGCGCATGGCTTT 0.642 CYP4F22 126410 broad.mit.edu 37 19 15648390 15648390 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr19:15648390C>T uc002nbh.3 + 6 633 c.466C>T c.(466-468)CGT>TGT p.R156C NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 156 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 GAGCCGGCACCGTCGCCTGCT 0.542 UPF1 5976 broad.mit.edu 37 19 18968250 18968250 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr19:18968250G>A uc002nkg.2 + 15 2398 c.2123G>A c.(2122-2124)CGC>CAC p.R708H UPF1_uc002nkf.2_Missense_Mutation_p.R697H|UPF1_uc002nkh.2_5'Flank NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 708 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 CGGCCCATCCGCCTGCAGGTC 0.642 ATP13A1 57130 broad.mit.edu 37 19 19758484 19758484 + Frame_Shift_Del DEL C - - TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr19:19758484delC uc002nnh.3 - 20 2745 c.2717delG c.(2716-2718)GGCfs p.G906fs ATP13A1_uc002nne.2_Frame_Shift_Del_p.G46fs|ATP13A1_uc002nnf.3_Frame_Shift_Del_p.G274fs|ATP13A1_uc002nng.2_Frame_Shift_Del_p.G788fs NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 906 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 GGCTCTGATGCCACTGTTGCT 0.697 ZNF676 163223 broad.mit.edu 37 19 22363727 22363727 + Silent SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr19:22363727G>A uc002nqs.1 - 3 1110 c.792C>T c.(790-792)AGC>AGT p.S264S NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 264 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GGGTTGAGACGCTACTAAATC 0.398 RPSAP58 388524 broad.mit.edu 37 19 24010294 24010294 + Missense_Mutation SNP C G G TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr19:24010294C>G uc002nrn.2 + 4 754 c.331C>G c.(331-333)CAG>GAG p.Q111E NM_002295 NP_002286 ribosomal protein SA 0 CTTCACTAACCAGATCCAGGC 0.567 FAM187B 148109 broad.mit.edu 37 19 35719014 35719014 + Silent SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr19:35719014G>A uc002nyk.1 - 1 615 c.570C>T c.(568-570)AGC>AGT p.S190S NM_152481 NP_689694 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 190 Extracellular (Potential). integral to membrane ovary(2) 2 GCCGCAAGCGGCTAGACCACA 0.577 RYR1 6261 broad.mit.edu 37 19 39051893 39051893 + Silent SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr19:39051893C>T uc002oit.2 + 90 12553 c.12423C>T c.(12421-12423)AAC>AAT p.N4141N RYR1_uc002oiu.2_Silent_p.N4136N|RYR1_uc002oiv.1_Silent_p.N1050N NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4141 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCGGCTTCAACGTGGCGGTGC 0.592 CYP2B6 1555 broad.mit.edu 37 19 41512823 41512823 + Silent SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr19:41512823C>T uc002opr.1 + 4 505 c.498C>T c.(496-498)GAC>GAT p.D166D CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 166 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CCCTCATGGACCCCACCTTCC 0.512 MYH14 79784 broad.mit.edu 37 19 50812362 50812362 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr19:50812362G>A uc002prr.1 + 40 5812 c.5765G>A c.(5764-5766)CGT>CAT p.R1922H MYH14_uc010enu.1_Missense_Mutation_p.R1963H|MYH14_uc002prq.1_Missense_Mutation_p.R1930H|MYH14_uc010ycb.1_Missense_Mutation_p.R273H|MYH14_uc002prs.1_Missense_Mutation_p.R273H NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1922 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) AGGCTGCAGCGTGAGCTGGAA 0.632 ZNF135 7694 broad.mit.edu 37 19 58579130 58579130 + Silent SNP C T T rs141591921 TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr19:58579130C>T uc010yhq.1 + 5 1410 c.1314C>T c.(1312-1314)ACC>ACT p.T438T ZNF135_uc002qre.2_Silent_p.T426T|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Silent_p.T384T|ZNF135_uc002qrg.2_Silent_p.T396T|ZNF135_uc010yhr.1_Silent_p.T247T NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 438 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CACTCCTGACCGAGCATCGGA 0.547 APOB 338 broad.mit.edu 37 2 21233457 21233457 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr2:21233457C>T uc002red.2 - 26 6411 c.6283G>A c.(6283-6285)GTA>ATA p.V2095I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2095 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTCTCTGTACGTTTTCCAGT 0.368 TMEM150A 129303 broad.mit.edu 37 2 85828199 85828199 + Missense_Mutation SNP C G G TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr2:85828199C>G uc002spw.1 - 3 866 c.145G>C c.(145-147)GCT>CCT p.A49P USP39_uc002sqb.2_5'Flank|TMEM150A_uc002spx.1_5'UTR|TMEM150A_uc002spz.1_Silent_p.L18L|TMEM150A_uc002sqa.1_5'UTR|TMEM150A_uc002spy.1_Missense_Mutation_p.A49P NM_001031738 NP_001026908 Q86TG1 T150A_HUMAN transmembrane protein 150A isoform 1 49 Extracellular (Potential). integral to membrane|plasma membrane 0 CCTTGCTCAGCAGGGTCAGGA 0.642 BAZ2B 29994 broad.mit.edu 37 2 160241783 160241783 + Missense_Mutation SNP T C C TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr2:160241783T>C uc002uao.2 - 23 3921 c.3569A>G c.(3568-3570)CAA>CGA p.Q1190R BAZ2B_uc002uap.2_Missense_Mutation_p.Q1154R NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 AAGCTCAGTTTGTCCACAGTG 0.438 ARPC2 10109 broad.mit.edu 37 2 219103491 219103492 + Frame_Shift_Del DEL TT - - TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr2:219103491_219103492delTT uc002vhd.2 + 6 485_486 c.373_374delTT c.(373-375)TTTfs p.F125fs ARPC2_uc002vhe.2_Frame_Shift_Del_p.F125fs|ARPC2_uc002vhf.2_Frame_Shift_Del_p.F11fs NM_152862 NP_690601 O15144 ARPC2_HUMAN actin related protein 2/3 complex subunit 2 125 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton ovary(1) 1 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) TGCCTCTGTCTTTGAAAAATAC 0.416 UGT1A5 54579 broad.mit.edu 37 2 234621782 234621782 + Missense_Mutation SNP C T T rs41270755 byFrequency TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr2:234621782C>T uc002vuw.2 + 1 145 c.145C>T c.(145-147)CGG>TGG p.R49W UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.R49W NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 49 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) GGAGGCCTTGCGGGACCTCCA 0.582 RSPO4 343637 broad.mit.edu 37 20 944738 944738 + Silent SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr20:944738G>A uc002wej.2 - 4 532 c.435C>T c.(433-435)GGC>GGT p.G145G RSPO4_uc002wek.2_Intron NM_001029871 NP_001025042 Q2I0M5 RSPO4_HUMAN R-spondin family, member 4 isoform 1 precursor 145 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding 0 GGCTCCAGCCGCCCCAGGGAC 0.597 FAM83C 128876 broad.mit.edu 37 20 33880014 33880014 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr20:33880014G>A uc010zux.1 - 1 212 c.94C>T c.(94-96)CGG>TGG p.R32W FAM83C_uc002xcb.1_5'UTR NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 32 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) GAGCTCTCCCGCCACCACGGC 0.746 HNF4A 3172 broad.mit.edu 37 20 43052742 43052742 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr20:43052742G>A uc002xma.2 + 8 1066 c.977G>A c.(976-978)CGC>CAC p.R326H HNF4A_uc002xlt.2_Missense_Mutation_p.R304H|HNF4A_uc002xlu.2_Missense_Mutation_p.R304H|HNF4A_uc002xlv.2_Missense_Mutation_p.R304H|HNF4A_uc002xly.2_Missense_Mutation_p.R326H|HNF4A_uc002xlz.2_Missense_Mutation_p.R326H|HNF4A_uc010ggq.2_Missense_Mutation_p.R319H NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 326 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) ATCAACGACCGCCAGTATGAC 0.582 SEMG1 6406 broad.mit.edu 37 20 43837052 43837052 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr20:43837052C>T uc002xni.2 + 2 1171 c.1114C>T c.(1114-1116)CGC>TGC p.R372C SEMG1_uc002xnj.2_Missense_Mutation_p.R312C|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 372 58 AA repeat 2. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) TGTATCCCAACGCAGTATTTA 0.418 CBR1 873 broad.mit.edu 37 21 37442646 37442646 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr21:37442646G>A uc002yvb.1 + 1 362 c.233G>A c.(232-234)CGC>CAC p.R78H uc011aea.1_RNA|SETD4_uc002yva.2_Intron|CBR1_uc010gmx.1_Missense_Mutation_p.R78H|CBR1_uc010gmy.1_Missense_Mutation_p.R78H NM_001757 NP_001748 P16152 CBR1_HUMAN carbonyl reductase 1 78 drug metabolic process|vitamin K metabolic process cytoplasm 15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding 0 Acetohexamide(DB00414)|Lubiprostone(DB01046) GACTTCCTGCGCAAGGAGTAC 0.672 RIPK4 54101 broad.mit.edu 37 21 43161157 43161157 + Silent SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr21:43161157G>A uc002yzn.1 - 8 2244 c.2196C>T c.(2194-2196)GAC>GAT p.D732D NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 732 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 GCCCCTGCTCGTCGAACAGGT 0.692 C21orf58 54058 broad.mit.edu 37 21 47738114 47738114 + Missense_Mutation SNP C A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr21:47738114C>A uc002zjf.2 - 3 1255 c.121G>T c.(121-123)GCC>TCC p.A41S C21orf58_uc002ziz.2_5'UTR|C21orf58_uc002zja.2_5'UTR|C21orf58_uc011afw.1_5'UTR|C21orf58_uc002zjc.2_5'UTR|C21orf58_uc011afx.1_5'UTR|C21orf58_uc010gqj.1_RNA|C21orf58_uc002zjg.1_RNA NM_058180 NP_478060 P58505 CU058_HUMAN hypothetical protein LOC54058 41 pancreas(1) 1 Breast(49;0.112) Colorectal(79;0.239) GCAGGGCGGGCCTTACCTCCT 0.652 DIP2A 23181 broad.mit.edu 37 21 47954567 47954567 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr21:47954567C>T uc002zjo.2 + 13 1792 c.1609C>T c.(1609-1611)CGG>TGG p.R537W DIP2A_uc011afy.1_Missense_Mutation_p.R473W|DIP2A_uc011afz.1_Missense_Mutation_p.R533W|DIP2A_uc002zjl.2_Missense_Mutation_p.R537W|DIP2A_uc002zjm.2_Missense_Mutation_p.R537W|DIP2A_uc010gql.2_Missense_Mutation_p.R494W|DIP2A_uc002zjn.2_Missense_Mutation_p.R537W|DIP2A_uc002zjp.1_Missense_Mutation_p.R282W NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 537 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GGCACAGTGCCGGGCTCTGAC 0.562 IGLL3 91353 broad.mit.edu 37 22 25713968 25713968 + Translation_Start_Site SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr22:25713968C>T uc003abr.2 + 1 81 c.-19C>T c.(-21--17)CACGG>CATGG NM_001013618 NP_001013640 immunoglobulin lambda-like polypeptide 3 0 CTCAGCCACACGGCACAGCTG 0.592 WDR82 80335 broad.mit.edu 37 3 52304745 52304745 + Missense_Mutation SNP C G G TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr3:52304745C>G uc003ddl.2 - 2 524 c.242G>C c.(241-243)AGC>ACC p.S81T WDR82_uc003ddk.2_5'Flank|uc011bee.1_5'Flank|MIRLET7G_hsa-let-7g|MI0000433_5'Flank NM_025222 NP_079498 Q6UXN9 WDR82_HUMAN WD repeat domain 82 81 histone H3-K4 methylation chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex protein binding 0 BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) TTTGTTAGAGCTGTAAACAAC 0.378 DNAH12 201625 broad.mit.edu 37 3 57493505 57493505 + Silent SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr3:57493505G>A uc003dit.2 - 8 943 c.762C>T c.(760-762)AAC>AAT p.N254N DNAH12_uc003diu.2_Silent_p.N254N NM_178504 NP_848599 Q6ZR08 DYH12_HUMAN dynein heavy chain domain 2 isoform 1 254 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity pancreas(1)|skin(1) 2 TCTCTTCTGCGTTTCTAGTTT 0.333 Unknown 0 broad.mit.edu 37 3 129130070 129130070 + Silent SNP C T T rs117403753 by1000genomes TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr3:129130070C>T uc003emg.2 - 5 1129 c.966G>A c.(964-966)ACG>ACA p.T322T NM_207307 NP_997190 hypothetical protein LOC90288 TCATGGGCCGCGTCTCCATCT 0.597 AADACL2 344752 broad.mit.edu 37 3 151475339 151475339 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr3:151475339G>A uc003ezc.2 + 5 1283 c.1163G>A c.(1162-1164)AGG>AAG p.R388K AADACL2_uc010hvn.2_Missense_Mutation_p.R175K NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 388 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CTAGGTCTTAGGATAAGAGAT 0.328 PIK3CA 5290 broad.mit.edu 37 3 178952152 178952152 + Nonstop_Mutation SNP A G G TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr3:178952152A>G uc003fjk.2 + 21 3364 c.3207A>G c.(3205-3207)TGA>TGG p.*1069W NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1069 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.*1069_*1069insWKDN*(3)|p.*1069fs*3(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CATTGAACTGAAAAGATAACT 0.393 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) GABRG1 2565 broad.mit.edu 37 4 46043099 46043099 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr4:46043099C>T uc003gxb.2 - 9 1456 c.1304G>A c.(1303-1305)CGC>CAC p.R435H NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 435 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTTGGCAATGCGTATGTGTAT 0.403 FRYL 285527 broad.mit.edu 37 4 48536560 48536560 + Splice_Site SNP A C C TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr4:48536560A>C uc003gyh.1 - 49 7310 c.6705_splice c.e49+1 p.Q2235_splice FRYL_uc003gyg.1_Splice_Site_p.Q931_splice|FRYL_uc003gyi.1_Splice_Site_p.Q1123_splice|FRYL_uc003gyj.1_Splice_Site_p.Q530_splice NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 gtggtcacTCACCTGTACATA 0.194 UGT2B28 54490 broad.mit.edu 37 4 70160487 70160487 + Nonsense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr4:70160487G>A uc003hej.2 + 6 1552 c.1550G>A c.(1549-1551)TGG>TAG p.W517* UGT2B28_uc010ihr.2_3'UTR NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 517 Helical; (Potential). xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) TTTTGTTTCTGGAAGTTTGCT 0.413 ANKRD17 26057 broad.mit.edu 37 4 73959897 73959897 + Silent SNP T C C TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr4:73959897T>C uc003hgp.2 - 28 5343 c.5226A>G c.(5224-5226)GGA>GGG p.G1742G ANKRD17_uc003hgo.2_Silent_p.G1629G|ANKRD17_uc003hgq.2_Silent_p.G1491G|ANKRD17_uc003hgr.2_Silent_p.G1741G NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1742 KH. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGCCTCCTCTTCCAATCACTC 0.333 TRAM1L1 133022 broad.mit.edu 37 4 118005491 118005491 + Missense_Mutation SNP T G G TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr4:118005491T>G uc003ibv.3 - 1 1246 c.1059A>C c.(1057-1059)GAA>GAC p.E353D NM_152402 NP_689615 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 353 Cytoplasmic (Potential). protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1) 1 TATTTGAAGTTTCCACTCCCA 0.393 TKTL2 84076 broad.mit.edu 37 4 164394680 164394680 + Silent SNP G A A rs114941835 by1000genomes TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr4:164394680G>A uc003iqp.3 - 1 368 c.207C>T c.(205-207)AAC>AAT p.N69N NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 69 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGAACCGGTCGTTGTCCGGGT 0.557 IRX2 153572 broad.mit.edu 37 5 2749815 2749815 + Silent SNP G A A rs138413279 byFrequency TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr5:2749815G>A uc003jda.2 - 2 578 c.336C>T c.(334-336)CTC>CTT p.L112L C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Silent_p.L112L NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 112 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) CGGGGTCGTTGAGCTGGTACG 0.682 UGT3A2 167127 broad.mit.edu 37 5 36036029 36036029 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr5:36036029G>A uc003jjz.1 - 7 1436 c.1343C>T c.(1342-1344)CCG>CTG p.P448L UGT3A2_uc011cos.1_Missense_Mutation_p.P414L|UGT3A2_uc011cot.1_Missense_Mutation_p.P146L NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 448 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGGGCTGAGCGGGTGGGAGCG 0.597 HCN1 348980 broad.mit.edu 37 5 45303809 45303809 + Nonsense_Mutation SNP G A A rs35229491 TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr5:45303809G>A uc003jok.2 - 6 1535 c.1510C>T c.(1510-1512)CGA>TGA p.R504* NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 504 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GCTCCTTCTCGTATGATATAA 0.403 P4HA2 8974 broad.mit.edu 37 5 131544873 131544873 + Silent SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr5:131544873C>T uc003kwh.2 - 7 1425 c.861G>A c.(859-861)AGG>AGA p.R287R P4HA2_uc003kwg.2_Silent_p.R287R|P4HA2_uc003kwi.2_Silent_p.R287R|P4HA2_uc003kwk.2_Silent_p.R287R|P4HA2_uc003kwl.2_Silent_p.R287R|P4HA2_uc003kwj.2_Silent_p.R287R NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 287 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 0 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) CGTAAACATCCCTCTCAGGCA 0.542 PCDH12 51294 broad.mit.edu 37 5 141336339 141336339 + Missense_Mutation SNP G C C TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr5:141336339G>C uc003llx.2 - 1 2289 c.1078C>G c.(1078-1080)CCA>GCA p.P360A NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 360 Cadherin 4.|Extracellular (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCAGTGATGGCTGGGAGGCC 0.507 PDE6A 5145 broad.mit.edu 37 5 149265912 149265912 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr5:149265912G>A uc003lrg.3 - 14 1874 c.1754C>T c.(1753-1755)ACG>ATG p.T585M NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 585 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CTCTAGGTCCGTGAAGTAGCG 0.532 FAM71B 153745 broad.mit.edu 37 5 156590194 156590194 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr5:156590194G>A uc003lwn.2 - 2 1182 c.1082C>T c.(1081-1083)GCG>GTG p.A361V NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 361 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCGGCCCCCGCCATCGAGGT 0.567 GABRB2 2561 broad.mit.edu 37 5 160721114 160721114 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr5:160721114C>T uc003lys.1 - 11 1731 c.1513G>A c.(1513-1515)GTC>ATC p.V505I GABRB2_uc011deh.1_Missense_Mutation_p.V306I|GABRB2_uc003lyr.1_Missense_Mutation_p.V467I|GABRB2_uc003lyt.1_Missense_Mutation_p.V467I|GABRB2_uc010jiu.1_Missense_Mutation_p.V404I NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 505 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGCCAATAGACGATGTTGAAG 0.453 KIF13A 63971 broad.mit.edu 37 6 17779855 17779855 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr6:17779855C>T uc003ncg.3 - 32 4012 c.3907G>A c.(3907-3909)GTA>ATA p.V1303I KIF13A_uc003ncf.2_Missense_Mutation_p.V1290I|KIF13A_uc003nch.3_Missense_Mutation_p.V1303I|KIF13A_uc003nci.3_Missense_Mutation_p.V1290I|KIF13A_uc003nce.1_5'Flank NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1303 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TCATAGGTTACACCACAGGAA 0.229 DEF6 50619 broad.mit.edu 37 6 35280250 35280250 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr6:35280250C>T uc003okk.2 + 4 634 c.595C>T c.(595-597)CGG>TGG p.R199W DEF6_uc010jvs.2_Missense_Mutation_p.R199W|DEF6_uc010jvt.2_Intron NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog 199 cytoplasm|nucleus|plasma membrane 0 GGGCGTGGGCCGGGACACCCT 0.652 MOCS1 4337 broad.mit.edu 37 6 39877612 39877612 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr6:39877612C>T uc003opb.2 - 8 1207 c.1069G>A c.(1069-1071)GCT>ACT p.A357T MOCS1_uc003opa.2_Missense_Mutation_p.A357T|MOCS1_uc003opc.2_Missense_Mutation_p.A357T|MOCS1_uc003opd.2_Missense_Mutation_p.A357T|MOCS1_uc003ope.2_Missense_Mutation_p.A270T NM_005942 NP_005933 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis-step 1 protein 357 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding p.A357V(1) ovary(1)|liver(1)|central_nervous_system(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CCCACAGCAGCCCCAATGATT 0.622 KIAA1244 57221 broad.mit.edu 37 6 138531138 138531138 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr6:138531138C>T uc003qhu.2 + 4 311 c.311C>T c.(310-312)ACG>ATG p.T104M NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 104 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GTGAAAGTGACGCCTTCGCTC 0.502 IGF2R 3482 broad.mit.edu 37 6 160501272 160501272 + Missense_Mutation SNP A G G TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr6:160501272A>G uc003qta.2 + 39 5946 c.5798A>G c.(5797-5799)TAC>TGC p.Y1933C NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1933 13.|Lumenal (Potential).|Fibronectin type-II. receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ACTGCGGACTACGACAGAGAC 0.577 SCIN 85477 broad.mit.edu 37 7 12683930 12683930 + Silent SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr7:12683930C>T uc003ssn.3 + 12 1959 c.1749C>T c.(1747-1749)GGC>GGT p.G583G SCIN_uc010ktt.2_Intron|SCIN_uc003sso.3_Silent_p.G336G NM_001112706 NP_001106177 Q9Y6U3 ADSV_HUMAN scinderin isoform 1 583 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TCCAAGAAGGCGAGGAGCCAG 0.448 IKZF1 10320 broad.mit.edu 37 7 50467929 50467929 + Silent SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr7:50467929G>A uc003tow.3 + 9 1332 c.1164G>A c.(1162-1164)GCG>GCA p.A388A IKZF1_uc003tox.3_Silent_p.A346A|IKZF1_uc003toy.3_Silent_p.A346A|IKZF1_uc011kck.1_Silent_p.A301A|IKZF1_uc003toz.3_Silent_p.A358A|IKZF1_uc010kyx.2_Silent_p.A128A|IKZF1_uc003tpa.3_Silent_p.A130A NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 388 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) AGCGCGAGGCGTCCCCGAGCA 0.672 D ALL EGFR 1956 broad.mit.edu 37 7 55221765 55221765 + Missense_Mutation SNP A G G TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr7:55221765A>G uc003tqk.2 + 7 1055 c.809A>G c.(808-810)TAC>TGC p.Y270C EGFR_uc003tqh.2_Missense_Mutation_p.Y270C|EGFR_uc003tqi.2_Missense_Mutation_p.Y270C|EGFR_uc003tqj.2_Missense_Mutation_p.Y270C|EGFR_uc010kzg.1_Missense_Mutation_p.Y225C|EGFR_uc011kco.1_Missense_Mutation_p.Y217C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 270 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTCATGCTCTACAACCCCACC 0.587 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) AZGP1 563 broad.mit.edu 37 7 99565820 99565820 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr7:99565820G>A uc003ush.2 - 3 615 c.571C>T c.(571-573)CGG>TGG p.R191W NM_001185 NP_001176 P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc 191 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) AGGTATTTCCGCAGAGTCGCA 0.552 OR6V1 346517 broad.mit.edu 37 7 142749461 142749461 + Silent SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr7:142749461C>T uc011ksv.1 + 1 24 c.24C>T c.(22-24)TCC>TCT p.S8S NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) GCCAGCCCTCCGAATTTGTCC 0.408 CNTNAP2 26047 broad.mit.edu 37 7 147259237 147259237 + Silent SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr7:147259237C>T uc003weu.1 + 12 2301 c.1785C>T c.(1783-1785)TAC>TAT p.Y595Y NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 595 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TAGCTATCTACGAGCCTTCCT 0.448 HNSCC(39;0.1) SSPO 23145 broad.mit.edu 37 7 149489760 149489760 + Missense_Mutation SNP A C C TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr7:149489760A>C uc010lpk.2 + 39 5816 c.5816A>C c.(5815-5817)AAC>ACC p.N1939T NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1939 TSP type-1 3. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGCTCCAACAACCCCCGCCCC 0.692 PRKDC 5591 broad.mit.edu 37 8 48805878 48805878 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr8:48805878G>A uc003xqi.2 - 31 3725 c.3668C>T c.(3667-3669)ACC>ATC p.T1223I PRKDC_uc003xqj.2_Missense_Mutation_p.T1223I|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1223 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCCCTCAAAGGTGTTGATGAG 0.522 NHEJ PENK 5179 broad.mit.edu 37 8 57353950 57353950 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr8:57353950G>A uc003xsz.2 - 2 766 c.685C>T c.(685-687)CGG>TGG p.R229W PENK_uc003xta.3_Missense_Mutation_p.R229W NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 229 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CCTCCATACCGTTTCTGGTAG 0.517 OXR1 55074 broad.mit.edu 37 8 107722899 107722899 + Missense_Mutation SNP G T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr8:107722899G>T uc011lht.1 + 9 1776 c.1677G>T c.(1675-1677)TTG>TTT p.L559F OXR1_uc003ymf.2_Missense_Mutation_p.L558F|OXR1_uc011lhu.1_Missense_Mutation_p.L551F|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.L256F NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 559 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) ATAAGTTCTTGTGTCTCAGAG 0.358 ST3GAL1 6482 broad.mit.edu 37 8 134488106 134488106 + Missense_Mutation SNP G C C TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr8:134488106G>C uc003yuk.2 - 5 991 c.162C>G c.(160-162)ATC>ATG p.I54M ST3GAL1_uc003yum.2_Missense_Mutation_p.I54M NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 54 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) GCCTGTGCTTGATCAGTCTCT 0.597 BNC2 54796 broad.mit.edu 37 9 16436735 16436735 + Missense_Mutation SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr9:16436735C>T uc003zml.2 - 6 1597 c.1457G>A c.(1456-1458)CGT>CAT p.R486H BNC2_uc011lmw.1_Missense_Mutation_p.R391H|BNC2_uc003zmm.2_Missense_Mutation_p.R444H|BNC2_uc003zmq.1_Missense_Mutation_p.R500H|BNC2_uc003zmr.1_Missense_Mutation_p.R523H|BNC2_uc003zmp.1_Missense_Mutation_p.R514H|BNC2_uc010mij.1_Missense_Mutation_p.R408H|BNC2_uc011lmv.1_Missense_Mutation_p.R312H|BNC2_uc003zmo.1_Missense_Mutation_p.R408H|BNC2_uc003zmj.2_Missense_Mutation_p.R251H|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.R251H|BNC2_uc003zmn.1_Missense_Mutation_p.R251H NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 486 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GTGGCGATTACGACTTCGGAG 0.463 C9orf64 84267 broad.mit.edu 37 9 86559803 86559803 + Missense_Mutation SNP A T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr9:86559803A>T uc004anb.2 - 3 947 c.699T>A c.(697-699)AGT>AGA p.S233R C9orf64_uc004anc.2_Missense_Mutation_p.S92R NM_032307 NP_115683 Q5T6V5 CI064_HUMAN hypothetical protein LOC84267 233 0 ACATGGTGATACTGGAGATGT 0.428 HDHD3 81932 broad.mit.edu 37 9 116136378 116136378 + Missense_Mutation SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr9:116136378G>A uc004bhi.1 - 2 1041 c.257C>T c.(256-258)GCG>GTG p.A86V HDHD3_uc004bhj.2_Missense_Mutation_p.A86V|HDHD3_uc004bhk.2_Missense_Mutation_p.A86V NM_031219 NP_112496 Q9BSH5 HDHD3_HUMAN haloacid dehalogenase-like hydrolase domain 86 phosphoglycolate phosphatase activity|protein binding 0 CTGGACACCCGCCAGGTGGAA 0.617 FAM129B 64855 broad.mit.edu 37 9 130272452 130272452 + Silent SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr9:130272452G>A uc004brh.2 - 9 1336 c.1134C>T c.(1132-1134)AAC>AAT p.N378N FAM129B_uc004bri.2_Silent_p.N365N|FAM129B_uc004brj.3_Silent_p.N378N NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN hypothetical protein LOC64855 isoform 1 378 protein binding 0 TGCCGCCCTCGTTGATGACGT 0.637 C9orf167 54863 broad.mit.edu 37 9 140173549 140173549 + Silent SNP C T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chr9:140173549C>T uc004cmn.2 + 2 525 c.408C>T c.(406-408)AAC>AAT p.N136N C9orf167_uc011mew.1_5'Flank NM_017723 NP_060193 Q9NXH8 CI167_HUMAN hypothetical protein LOC54863 136 Helical; (Potential). chaperone mediated protein folding requiring cofactor integral to membrane ATP binding|nucleoside-triphosphatase activity pancreas(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000728) AAGTTCTCAACGCTATCGAGA 0.662 ZMYM3 9203 broad.mit.edu 37 X 70469493 70469493 + Silent SNP G T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chrX:70469493G>T uc004dzh.1 - 7 1375 c.1288C>A c.(1288-1290)CGG>AGG p.R430R BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.R430R|ZMYM3_uc004dzj.1_Silent_p.R430R|ZMYM3_uc011mpu.1_Silent_p.R161R|ZMYM3_uc004dzk.3_Silent_p.R430R|ZMYM3_uc004dzl.3_Silent_p.R430R|ZMYM3_uc004dzm.3_Silent_p.R430R NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 430 MYM-type 3. multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) CTGCAGAGCCGGTGTACCACG 0.587 COL4A6 1288 broad.mit.edu 37 X 107431199 107431199 + Missense_Mutation SNP A T T TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chrX:107431199A>T uc004enw.3 - 22 1752 c.1649T>A c.(1648-1650)CTC>CAC p.L550H COL4A6_uc004env.3_Missense_Mutation_p.L549H|COL4A6_uc011msn.1_Missense_Mutation_p.L549H|COL4A6_uc010npk.2_Missense_Mutation_p.L549H NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 550 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 GATTGTACTGAGAATTGGTTC 0.512 Alport_syndrome_with_Diffuse_Leiomyomatosis DCAF12L1 139170 broad.mit.edu 37 X 125685359 125685359 + Silent SNP G A A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0c81ebb9-20a6-40c1-9be2-17b99517e988 26bc13cd-9304-4181-b19a-9d1134ed6253 g.chrX:125685359G>A uc004eul.2 - 1 1484 c.1233C>T c.(1231-1233)CTC>CTT p.L411L NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 411 skin(3)|ovary(1) 4 CATTGTGGTTGAGCCAGCCTC 0.552