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_status validation_method validation_tumor_sample validation_alt_allele filter PTCHD2 57540 broad.mit.edu 37 1 11596393 11596393 + Nonsense_Mutation SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:11596393C>T uc001ash.3 + 21 3967 c.3829C>T c.(3829-3831)CAG>TAG p.Q1277* NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1277 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CGCCCGAACGCAGCGCCAGTG 0.706 9 34 --- --- --- --- PASS PADI2 11240 broad.mit.edu 37 1 17422451 17422451 + Missense_Mutation SNP C G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:17422451C>G uc001baf.2 - 4 446 c.364G>C c.(364-366)GTG>CTG p.V122L PADI2_uc010ocm.1_Missense_Mutation_p.V122L|PADI2_uc001bag.1_Missense_Mutation_p.V122L NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 122 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) TCTGCGTCCACATCCAGGGAG 0.607 41 99 --- --- --- --- PASS ACTL8 81569 broad.mit.edu 37 1 18152873 18152873 + Silent SNP C G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:18152873C>G uc001bat.2 + 3 1176 c.960C>G c.(958-960)GTC>GTG p.V320V NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 320 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GGGATCACGTCTCCTCCACCA 0.597 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 89 --- --- --- --- PASS KIF17 57576 broad.mit.edu 37 1 20991137 20991137 + Silent SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:20991137G>A uc001bdr.3 - 15 3148 c.3030C>T c.(3028-3030)ATC>ATT p.I1010I KIF17_uc001bdp.3_Silent_p.I287I|KIF17_uc001bdq.3_Silent_p.I288I|KIF17_uc009vpx.2_Silent_p.I380I|KIF17_uc001bds.3_Silent_p.I1009I NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 1010 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TGGTGAAAGGGATGTCGAGGG 0.587 18 122 --- --- --- --- PASS MAP7D1 55700 broad.mit.edu 37 1 36644891 36644891 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:36644891G>C uc001bzz.2 + 13 2375 c.2159G>C c.(2158-2160)CGG>CCG p.R720P MAP7D1_uc001caa.2_Missense_Mutation_p.R688P|MAP7D1_uc001cab.2_Missense_Mutation_p.R683P|MAP7D1_uc001cac.2_Missense_Mutation_p.R420P|MAP7D1_uc001cad.2_Missense_Mutation_p.R257P NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 720 Potential. cytoplasm|spindle ovary(3)|breast(2) 5 Myeloproliferative disorder(586;0.0393) AAGAGGACTCGGAAGTCAGAA 0.587 14 25 --- --- --- --- PASS NT5C1A 84618 broad.mit.edu 37 1 40124970 40124970 + Silent SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:40124970A>T uc001cdq.1 - 6 930 c.930T>A c.(928-930)GCT>GCA p.A310A NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 310 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TGGGCGCTCCAGCAAGGAACA 0.612 62 108 --- --- --- --- PASS CCDC30 728621 broad.mit.edu 37 1 43103011 43103011 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:43103011G>C uc009vwk.1 + 11 1710 c.1600G>C c.(1600-1602)GAA>CAA p.E534Q CCDC30_uc001chm.2_Missense_Mutation_p.E232Q|CCDC30_uc001chn.2_Missense_Mutation_p.E323Q NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 534 Potential. 0 TAACCAATTTGAAGATGAAAT 0.343 7 27 --- --- --- --- PASS AKR1A1 10327 broad.mit.edu 37 1 46027544 46027544 + Silent SNP T C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:46027544T>C uc001cod.2 + 3 542 c.78T>C c.(76-78)CCT>CCC p.P26P AKR1A1_uc009vxw.2_Silent_p.P26P|AKR1A1_uc001coe.2_Silent_p.P26P NM_006066 NP_006057 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 26 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) AGAGTGAGCCTGGTCAGGTGA 0.557 13 131 --- --- --- --- PASS IPP 3652 broad.mit.edu 37 1 46193388 46193388 + Missense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:46193388C>A uc001cou.2 - 5 1230 c.963G>T c.(961-963)CAG>CAT p.Q321H IPP_uc001cos.3_Missense_Mutation_p.Q321H NM_005897 NP_005888 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 321 Kelch 1. actin cytoskeleton|cytoplasm actin binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TGGTCCAGTACTGGCTAAAGG 0.478 12 165 --- --- --- --- PASS MTMR11 10903 broad.mit.edu 37 1 149905804 149905804 + Missense_Mutation SNP T C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:149905804T>C uc001etl.3 - 8 966 c.715A>G c.(715-717)ATT>GTT p.I239V MTMR11_uc001etm.1_Missense_Mutation_p.I167V|MTMR11_uc010pbm.1_Missense_Mutation_p.I211V|MTMR11_uc010pbn.1_Missense_Mutation_p.I81V NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 239 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CTGTCCAGAATTCGGTTAGGG 0.478 34 147 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152283961 152283961 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:152283961G>T uc001ezu.1 - 3 3437 c.3401C>A c.(3400-3402)ACC>AAC p.T1134N uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1134 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGGTCCTGGTCCGCCCATG 0.597 Ichthyosis 126 300 --- --- --- --- PASS ETV3L 440695 broad.mit.edu 37 1 157068514 157068514 + Missense_Mutation SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:157068514A>T uc001fqq.1 - 3 755 c.470T>A c.(469-471)GTG>GAG p.V157E NM_001004341 NP_001004341 Q6ZN32 ETV3L_HUMAN ets variant 3-like 157 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(266;0.158) Prostate(1639;0.184) CTGCACACCCACGGGCACCAG 0.667 4 58 --- --- --- --- PASS KCNJ9 3765 broad.mit.edu 37 1 160054077 160054077 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:160054077G>T uc001fuy.1 + 2 499 c.257G>T c.(256-258)CGC>CTC p.R86L NM_004983 NP_004974 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel subfamily 86 Extracellular (By similarity). synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding ovary(1)|skin(1) 2 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCCTACGGCCGCGGCGACCTG 0.657 16 20 --- --- --- --- PASS CD84 8832 broad.mit.edu 37 1 160523900 160523900 + Missense_Mutation SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:160523900A>T uc001fwh.3 - 3 449 c.425T>A c.(424-426)ATG>AAG p.M142K CD84_uc001fwf.3_Missense_Mutation_p.M142K|CD84_uc001fwg.3_Missense_Mutation_p.M142K|CD84_uc009wtn.2_Missense_Mutation_p.M142K|CD84_uc001fwi.3_Missense_Mutation_p.M28K|CD84_uc001fwj.2_Missense_Mutation_p.M142K|CD84_uc001fwk.2_Missense_Mutation_p.M142K NM_003874 NP_003865 Q9UIB8 SLAF5_HUMAN CD84 molecule 142 Extracellular (Potential).|Ig-like C2-type. blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CACAGATGCCATTAAACTCTG 0.363 25 49 --- --- --- --- PASS DARS2 55157 broad.mit.edu 37 1 173806089 173806089 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:173806089G>C uc001gjh.1 + 8 1085 c.675G>C c.(673-675)GAG>GAC p.E225D NM_018122 NP_060592 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 225 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding central_nervous_system(2) 2 L-Aspartic Acid(DB00128) GTGCCAAAGAGTTTTTAGTAC 0.383 11 204 --- --- --- --- PASS RFWD2 64326 broad.mit.edu 37 1 176133017 176133017 + Silent SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:176133017G>T uc001gku.1 - 4 832 c.576C>A c.(574-576)CTC>CTA p.L192L RFWD2_uc001gkv.1_Silent_p.L192L|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_5'Flank|RFWD2_uc001gkt.1_Silent_p.L51L NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 192 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 GTTTAAGAATGAGTTCATTCA 0.284 6 9 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197072580 197072580 + Missense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:197072580C>A uc001gtu.2 - 18 6058 c.5801G>T c.(5800-5802)TGG>TTG p.W1934L ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1934 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TCCTGCAGTCCATGCTCTGAA 0.428 40 159 --- --- --- --- PASS MYOG 4656 broad.mit.edu 37 1 203054778 203054778 + Silent SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:203054778C>T uc001gzd.2 - 1 600 c.312G>A c.(310-312)CTG>CTA p.L104L NM_002479 NP_002470 P15173 MYOG_HUMAN myogenin 104 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity skin(2) 2 TGCTTCTCTTCAGGGCCTCGA 0.637 27 86 --- --- --- --- PASS RPS6KC1 26750 broad.mit.edu 37 1 213415152 213415152 + Missense_Mutation SNP T C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:213415152T>C uc010ptr.1 + 11 2492 c.2333T>C c.(2332-2334)GTA>GCA p.V778A RPS6KC1_uc001hkd.2_Missense_Mutation_p.V766A|RPS6KC1_uc010pts.1_Missense_Mutation_p.V566A|RPS6KC1_uc010ptt.1_Missense_Mutation_p.V566A|RPS6KC1_uc010ptu.1_Missense_Mutation_p.V597A|RPS6KC1_uc010ptv.1_Missense_Mutation_p.V313A|RPS6KC1_uc001hke.2_Missense_Mutation_p.V597A NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 778 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) ATGTTATTTGTAGCAGCTGTT 0.448 30 114 --- --- --- --- PASS GPR137B 7107 broad.mit.edu 37 1 236347124 236347124 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:236347124G>C uc001hxq.2 + 5 975 c.884G>C c.(883-885)GGA>GCA p.G295A GPR137B_uc001hxr.1_Missense_Mutation_p.G77A|GPR137B_uc009xge.2_RNA NM_003272 NP_003263 O60478 G137B_HUMAN G protein-coupled receptor 137B 295 Helical; (Potential). integral to plasma membrane|membrane fraction 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) GTATTATTTGGAGTGGTGTTA 0.393 12 36 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237780584 237780584 + Splice_Site SNP A C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:237780584A>C uc001hyl.1 + 38 5836 c.5716_splice c.e38-2 p.M1906_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGGTCTCTTAGATGTGCCTA 0.333 3 12 --- --- --- --- PASS OR2T8 343172 broad.mit.edu 37 1 248084490 248084490 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:248084490G>T uc010pzc.1 + 1 171 c.171G>T c.(169-171)ATG>ATT p.M57I NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACACGCCCATGTACTTCCTCC 0.522 9 157 --- --- --- --- PASS OR2T12 127064 broad.mit.edu 37 1 248458710 248458710 + Missense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:248458710C>A uc010pzj.1 - 1 171 c.171G>T c.(169-171)ATG>ATT p.M57I NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GGAGGAAGTACATGGGCCTGT 0.527 9 46 --- --- --- --- PASS DNMT3A 1788 broad.mit.edu 37 2 25467480 25467480 + Silent SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:25467480G>A uc002rgc.2 - 14 1853 c.1596C>T c.(1594-1596)GGC>GGT p.G532G DNMT3A_uc002rgd.2_Silent_p.G532G|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.G343G NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 532 Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGACTGGTAGCCGTCGTCGT 0.607 Mis|F|N|S AML 25 61 --- --- --- --- PASS ALK 238 broad.mit.edu 37 2 29456502 29456502 + Missense_Mutation SNP G C C rs80227749 TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:29456502G>C uc002rmy.2 - 14 3323 c.2416C>G c.(2416-2418)CGT>GGT p.R806G NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 806 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CTGTTCACACGGATTTCTTCT 0.483 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 33 96 --- --- --- --- PASS SIX2 10736 broad.mit.edu 37 2 45235864 45235864 + Missense_Mutation SNP T C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:45235864T>C uc002ruo.2 - 1 679 c.386A>G c.(385-387)TAC>TGC p.Y129C SIX2_uc002rup.2_Missense_Mutation_p.Y129C NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 129 Homeobox. nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTTGAAGCAGTAGCTGGTCTC 0.682 22 41 --- --- --- --- PASS SNRNP27 11017 broad.mit.edu 37 2 70123625 70123625 + Silent SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:70123625A>G uc002sfw.2 + 3 240 c.213A>G c.(211-213)AGA>AGG p.R71R SNRNP27_uc002sfv.2_RNA|SNRNP27_uc002sfx.2_Silent_p.R71R NM_006857 NP_006848 Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa 71 Arg-rich. mRNA processing|RNA splicing nucleus nucleic acid binding 0 aagaaagaagagatgaggaaa 0.279 14 39 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 79971515 79971515 + Silent SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:79971515G>A uc010ysh.1 + 2 110 c.105G>A c.(103-105)GTG>GTA p.V35V CTNNA2_uc010yse.1_Silent_p.V35V|CTNNA2_uc010ysf.1_Silent_p.V35V|CTNNA2_uc010ysg.1_Silent_p.V35V NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 35 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TATTTAAGGTGACTACACTTG 0.368 9 36 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89326681 89326681 + RNA SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:89326681C>A uc010ytr.1 - 68 c.6497G>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. CCAGTTGCTACGCTGCTGACA 0.473 42 64 --- --- --- --- PASS SLC9A2 6549 broad.mit.edu 37 2 103321024 103321024 + Missense_Mutation SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:103321024A>T uc002tca.2 + 10 2009 c.1867A>T c.(1867-1869)AGT>TGT p.S623C NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 623 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 CAACAGACACAGTCTGACAGC 0.423 17 41 --- --- --- --- PASS MARCO 8685 broad.mit.edu 37 2 119739940 119739940 + Silent SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:119739940C>A uc002tln.1 + 12 1149 c.1017C>A c.(1015-1017)CCC>CCA p.P339P MARCO_uc010yyf.1_Silent_p.P261P NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 339 Collagen-like.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 CAGGGAGCCCCGGGAGTCCAG 0.587 38 127 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133887640 133887640 + Missense_Mutation SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:133887640C>T uc002ttp.2 - 6 625 c.251G>A c.(250-252)CGT>CAT p.R84H NCKAP5_uc002ttq.2_Missense_Mutation_p.R84H|NCKAP5_uc002ttt.1_Missense_Mutation_p.R84H|NCKAP5_uc002tts.1_Missense_Mutation_p.R59H NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 84 Potential. protein binding 0 GCTTTGAAGACGTAAGTGTCT 0.438 6 14 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141081545 141081545 + Missense_Mutation SNP C G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:141081545C>G uc002tvj.1 - 81 13403 c.12431G>C c.(12430-12432)GGC>GCC p.G4144A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4144 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGAACCATGGCCAAATTTTTG 0.289 TSP Lung(27;0.18) 6 32 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168106733 168106733 + Missense_Mutation SNP T C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:168106733T>C uc002udx.2 + 8 8849 c.8831T>C c.(8830-8832)ATA>ACA p.I2944T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2769T|XIRP2_uc010fpq.2_Missense_Mutation_p.I2722T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.I290T NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2769 Potential. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GCCTTAAATATAGTGGAATTC 0.368 28 79 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168106746 168106746 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:168106746G>C uc002udx.2 + 8 8862 c.8844G>C c.(8842-8844)TTG>TTC p.L2948F XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L2773F|XIRP2_uc010fpq.2_Missense_Mutation_p.L2726F|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.L294F NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2773 Potential. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGGAATTCTTGAGAAAACGTG 0.363 27 86 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168108097 168108097 + Nonsense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:168108097G>T uc002udx.2 + 8 10213 c.10195G>T c.(10195-10197)GAA>TAA p.E3399* XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.E3224*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.E3177*|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3224 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGAACTGCGAGAAAAGATTCC 0.398 40 75 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189950500 189950500 + Splice_Site SNP T C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:189950500T>C uc002uqk.2 - 10 966 c.691_splice c.e10-1 p.G231_splice COL5A2_uc010frx.2_Splice_Site NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TGCACCACCCTACAGTTGAAA 0.388 5 40 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220161727 220161727 + Missense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:220161727C>A uc002vkz.2 - 15 2305 c.2216G>T c.(2215-2217)CGG>CTG p.R739L PTPRN_uc010zlc.1_Missense_Mutation_p.R649L|PTPRN_uc002vla.2_Missense_Mutation_p.R710L|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 739 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GTCAGGATGCCGGTTCTTTTT 0.647 46 108 --- --- --- --- PASS CHPF 79586 broad.mit.edu 37 2 220406629 220406629 + Silent SNP A C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr2:220406629A>C uc002vmc.3 - 2 824 c.597T>G c.(595-597)CCT>CCG p.P199P CHPF_uc010zlh.1_Silent_p.P37P|CHPF_uc002vmd.3_Silent_p.P199P|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 199 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) AGGTGGTGTCAGGCACCAGGA 0.677 OREG0015229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 11 --- --- --- --- PASS SUMF1 285362 broad.mit.edu 37 3 4494692 4494692 + Silent SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr3:4494692A>G uc003bpz.1 - 2 337 c.312T>C c.(310-312)GAT>GAC p.D104D SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Silent_p.D104D|SUMF1_uc010hby.1_Silent_p.D104D|SUMF1_uc011ast.1_Silent_p.D104D NM_182760 NP_877437 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 isoform 1 104 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity upper_aerodigestive_tract(1) 1 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) TCTGAGGATCATCTGTGCCCA 0.453 21 20 --- --- --- --- PASS ATP2B2 491 broad.mit.edu 37 3 10442751 10442751 + Missense_Mutation SNP G C C rs141093862 TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr3:10442751G>C uc003bvt.2 - 5 1106 c.667C>G c.(667-669)CCT>GCT p.P223A ATP2B2_uc003bvv.2_Missense_Mutation_p.P223A|ATP2B2_uc003bvw.2_Missense_Mutation_p.P223A|ATP2B2_uc010hdp.2_Missense_Mutation_p.P223A|ATP2B2_uc010hdo.2_5'UTR NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 223 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 CCGTCGGCAGGGAGGAGGTCA 0.577 19 26 --- --- --- --- PASS CACNA2D3 55799 broad.mit.edu 37 3 54798301 54798301 + Missense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr3:54798301C>A uc003dhf.2 + 13 1351 c.1303C>A c.(1303-1305)CTT>ATT p.L435I CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.L341I|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.L169I NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 435 Extracellular (Potential).|VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CATGGAATACCTTCACGTGCT 0.512 57 57 --- --- --- --- PASS POU1F1 5449 broad.mit.edu 37 3 87313626 87313626 + Missense_Mutation SNP T C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr3:87313626T>C uc003dqq.1 - 3 376 c.251A>G c.(250-252)CAC>CGC p.H84R POU1F1_uc010hoj.1_Missense_Mutation_p.H110R NM_000306 NP_000297 P28069 PIT1_HUMAN pituitary specific transcription factor 1 84 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|skin(1) 2 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) ACTCAAGGTGTGGTCAGGAAA 0.398 21 20 --- --- --- --- PASS COL8A1 1295 broad.mit.edu 37 3 99514450 99514450 + Nonsense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr3:99514450G>T uc003dtg.1 + 5 1950 c.1705G>T c.(1705-1707)GGA>TGA p.G569* COL8A1_uc003dth.1_Nonsense_Mutation_p.G569*|COL8A1_uc003dti.1_Nonsense_Mutation_p.G570* NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 569 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 aggacctccaggacccccagC 0.507 22 51 --- --- --- --- PASS ZPLD1 131368 broad.mit.edu 37 3 102175170 102175170 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr3:102175170G>A uc003dvs.1 + 11 1343 c.461G>A c.(460-462)AGT>AAT p.S154N ZPLD1_uc003dvt.1_Missense_Mutation_p.S170N|ZPLD1_uc011bhg.1_Missense_Mutation_p.S154N NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 154 ZP.|Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 TACAAATTTAGTTGTAGTTAT 0.368 58 130 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108682279 108682279 + Silent SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr3:108682279C>T uc003dxl.2 - 27 2868 c.2781G>A c.(2779-2781)TTG>TTA p.L927L MORC1_uc011bhn.1_Silent_p.L906L NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 927 Potential. cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 GTTTCTGCAACAATAGTGCCA 0.239 28 97 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108682280 108682280 + Nonsense_Mutation SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr3:108682280A>T uc003dxl.2 - 27 2867 c.2780T>A c.(2779-2781)TTG>TAG p.L927* MORC1_uc011bhn.1_Nonsense_Mutation_p.L906* NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 927 Potential. cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TTTCTGCAACAATAGTGCCAG 0.239 28 96 --- --- --- --- PASS DTX3L 151636 broad.mit.edu 37 3 122284830 122284830 + Silent SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr3:122284830G>C uc003efk.2 + 2 401 c.312G>C c.(310-312)CTG>CTC p.L104L DTX3L_uc010hrj.2_Silent_p.L104L|PARP9_uc003eff.3_5'Flank|PARP9_uc010hri.2_5'Flank|PARP9_uc011bjs.1_5'Flank|PARP9_uc003efg.2_5'Flank|PARP9_uc003efi.2_5'Flank|PARP9_uc003efh.2_5'Flank|PARP9_uc003efj.2_5'Flank NM_138287 NP_612144 Q8TDB6 DTX3L_HUMAN deltex 3-like 104 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1) 4 GBM - Glioblastoma multiforme(114;0.0459) TTTCTTCACTGACACAATCAC 0.408 30 96 --- --- --- --- PASS TTC14 151613 broad.mit.edu 37 3 180328230 180328230 + Nonsense_Mutation SNP C G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr3:180328230C>G uc003fkk.2 + 12 2345 c.2213C>G c.(2212-2214)TCA>TGA p.S738* TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 738 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AAAGAACACTCAGAAAGCAGT 0.299 16 91 --- --- --- --- PASS DLG1 1739 broad.mit.edu 37 3 196863538 196863538 + Missense_Mutation SNP T C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr3:196863538T>C uc003fxo.3 - 11 1184 c.994A>G c.(994-996)AGC>GGC p.S332G DLG1_uc011bub.1_Missense_Mutation_p.S216G|DLG1_uc011buc.1_Missense_Mutation_p.S216G|DLG1_uc011bud.1_Missense_Mutation_p.S15G|DLG1_uc003fxn.3_Missense_Mutation_p.S332G|DLG1_uc011bue.1_Missense_Mutation_p.S299G|DLG1_uc010ial.2_Missense_Mutation_p.S332G|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.S299G|DLG1_uc010ian.2_Missense_Mutation_p.S199G NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 332 PDZ 2. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) CCAGCAATGCTAAACCCAAGA 0.383 66 129 --- --- --- --- PASS GAK 2580 broad.mit.edu 37 4 905528 905528 + Silent SNP C G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr4:905528C>G uc003gbm.3 - 4 514 c.315G>C c.(313-315)GCG>GCC p.A105A GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_RNA|GAK_uc003gbl.3_5'UTR NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 105 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) TTCCTATAGACGCTGCAGAAC 0.502 31 56 --- --- --- --- PASS ZNF518B 85460 broad.mit.edu 37 4 10447122 10447122 + Missense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr4:10447122C>A uc003gmn.2 - 3 1318 c.831G>T c.(829-831)TTG>TTT p.L277F NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 GTTCAGGTAACAACATGATAT 0.363 50 211 --- --- --- --- PASS PACRGL 133015 broad.mit.edu 37 4 20711361 20711361 + Missense_Mutation SNP C G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr4:20711361C>G uc010iek.2 + 5 722 c.331C>G c.(331-333)CTT>GTT p.L111V PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.L159V|PACRGL_uc003gpz.2_Missense_Mutation_p.L111V|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.L111V|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron NM_145048 NP_659485 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like isoform 1 111 binding 0 TCCTGAAAGTCTTTCATTTGA 0.289 5 44 --- --- --- --- PASS GBA3 57733 broad.mit.edu 37 4 22748917 22748917 + Splice_Site SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr4:22748917A>G uc003gqp.3 + 3 378 c.287_splice c.e3-2 p.G96_splice GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Splice_Site_p.G97_splice NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 TTTTCCTCCTAGGAATTGATT 0.323 25 74 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56875952 56875952 + Silent SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr4:56875952G>C uc003hbi.2 + 19 2622 c.2388G>C c.(2386-2388)CGG>CGC p.R796R CEP135_uc003hbj.2_Silent_p.R502R NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 796 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) ACAGCCTCCGGCGCCAGCTTG 0.398 21 40 --- --- --- --- PASS ANXA3 306 broad.mit.edu 37 4 79525538 79525538 + Silent SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr4:79525538A>G uc003hld.2 + 12 1207 c.897A>G c.(895-897)CTA>CTG p.L299L ANXA3_uc003hle.2_Silent_p.L260L|ANXA3_uc010ijk.2_Silent_p.L260L NM_005139 NP_005130 P12429 ANXA3_HUMAN annexin A3 299 Annexin 4. defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity 0 GCTATTCCCTATATTCAGCAA 0.338 16 43 --- --- --- --- PASS MEPE 56955 broad.mit.edu 37 4 88766213 88766213 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr4:88766213G>A uc003hqy.2 + 4 232 c.193G>A c.(193-195)GTC>ATC p.V65I MEPE_uc010ikn.2_5'UTR NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 65 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AGAAAATATTGTCCAGGAAAG 0.313 10 56 --- --- --- --- PASS CENPE 1062 broad.mit.edu 37 4 104067180 104067180 + Nonsense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr4:104067180C>A uc003hxb.1 - 30 4309 c.4219G>T c.(4219-4221)GAG>TAG p.E1407* CENPE_uc003hxc.1_Nonsense_Mutation_p.E1382* NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1407 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTGAATTGCTCCATCTCACTC 0.348 19 81 --- --- --- --- PASS NEUROG2 63973 broad.mit.edu 37 4 113436115 113436115 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr4:113436115G>C uc003ias.2 - 2 844 c.517C>G c.(517-519)CAC>GAC p.H173D NM_024019 NP_076924 Q9H2A3 NGN2_HUMAN neurogenin 2 173 positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding skin(2)|central_nervous_system(1) 3 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) cccccgcAGTGATCCGCCAGG 0.552 3 23 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114269456 114269456 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr4:114269456G>C uc003ibe.3 + 36 4496 c.4396G>C c.(4396-4398)GAG>CAG p.E1466Q ANK2_uc003ibd.3_Missense_Mutation_p.E1457Q|ANK2_uc003ibf.3_Missense_Mutation_p.E1466Q|ANK2_uc011cgc.1_Missense_Mutation_p.E642Q|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Missense_Mutation_p.E140Q|ANK2_uc011cgb.1_Missense_Mutation_p.E1481Q NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1433 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCAAGAACAGGAGGAAGAGGT 0.413 12 32 --- --- --- --- PASS ANP32C 23520 broad.mit.edu 37 4 165118299 165118299 + Missense_Mutation SNP C G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr4:165118299C>G uc011cjk.1 - 1 565 c.565G>C c.(565-567)GAG>CAG p.E189Q MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 189 Asp/Glu-rich (highly acidic). 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) tcctcctcctcctcgccctcc 0.219 12 11 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19473819 19473819 + Missense_Mutation SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr5:19473819A>T uc003jgc.2 - 12 2266 c.1889T>A c.(1888-1890)GTG>GAG p.V630E CDH18_uc003jgd.2_Missense_Mutation_p.V630E|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 630 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) AAAAAGTACCACAATTGCTGA 0.413 60 272 --- --- --- --- PASS FBXL17 64839 broad.mit.edu 37 5 107521909 107521909 + Missense_Mutation SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr5:107521909C>T uc011cvc.1 - 6 2061 c.1654G>A c.(1654-1656)GAA>AAA p.E552K FBXL17_uc003kon.3_Missense_Mutation_p.E154K NM_001163315 NP_001156787 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 552 0 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) TTATCCAGTTCAGTGATATGA 0.358 10 23 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113740225 113740225 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr5:113740225G>T uc003kqo.2 + 3 1130 c.673G>T c.(673-675)GCT>TCT p.A225S NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 225 Helical; Name=Segment S3; (Potential). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ACTGGTGTGTGCTATTCATCC 0.443 55 92 --- --- --- --- PASS TIMD4 91937 broad.mit.edu 37 5 156346515 156346515 + Missense_Mutation SNP C G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr5:156346515C>G uc003lwh.2 - 9 1147 c.1090G>C c.(1090-1092)GAC>CAC p.D364H TIMD4_uc010jii.2_Missense_Mutation_p.D336H|TIMD4_uc003lwg.2_Missense_Mutation_p.D66H NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 364 Cytoplasmic (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGCTGCACGTCATTGAGGACA 0.433 30 39 --- --- --- --- PASS GPLD1 2822 broad.mit.edu 37 6 24448431 24448431 + Silent SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:24448431G>A uc003ned.1 - 16 1563 c.1452C>T c.(1450-1452)GCC>GCT p.A484A GPLD1_uc010jpr.1_Silent_p.A321A|GPLD1_uc010jps.1_Silent_p.A484A NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 484 FG-GAP 2. extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 AGACATACACGGCACCCTAGA 0.433 4 52 --- --- --- --- PASS C6orf15 29113 broad.mit.edu 37 6 31079488 31079488 + Silent SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:31079488C>A uc003nsk.1 - 2 648 c.648G>T c.(646-648)GTG>GTT p.V216V NM_014070 NP_054789 Q6UXA7 CF015_HUMAN STG protein precursor 216 0 CTCCCCAGGACACACTGGGAT 0.607 14 41 --- --- --- --- PASS LY6G6F 259215 broad.mit.edu 37 6 31675844 31675844 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:31675844G>C uc003nwa.1 + 3 579 c.579G>C c.(577-579)AGG>AGC p.R193S BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Missense_Mutation_p.R193S NM_001003693 NP_001003693 Q5SQ64 LY66F_HUMAN G6f protein precursor 193 Extracellular (Potential). integral to membrane|plasma membrane breast(1)|central_nervous_system(1) 2 CTGAGCCCAGGAGCCGAAGAC 0.582 23 106 --- --- --- --- PASS TAP1 6890 broad.mit.edu 37 6 32821269 32821269 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:32821269G>C uc003ocg.2 - 1 480 c.325C>G c.(325-327)CCC>GCC p.P109A TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank NM_000593 NP_000584 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family 109 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding skin(1) 1 AGCGCGGTGGGCACCAGCAGG 0.711 7 33 --- --- --- --- PASS GPR110 266977 broad.mit.edu 37 6 46977383 46977383 + Silent SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:46977383G>A uc003oyt.2 - 11 1987 c.1788C>T c.(1786-1788)TCC>TCT p.S596S GPR110_uc011dwl.1_Silent_p.S284S NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 596 Helical; Name=1; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 GACTTCCAATGGAGATACCCA 0.433 19 33 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51503653 51503653 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:51503653G>A uc003pah.1 - 64 11776 c.11500C>T c.(11500-11502)CCT>TCT p.P3834S NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3834 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TTACCTGGAGGAGAAGTGACA 0.368 30 114 --- --- --- --- PASS NDUFAF4 29078 broad.mit.edu 37 6 97339162 97339162 + Missense_Mutation SNP T A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:97339162T>A uc003pow.2 - 3 436 c.346A>T c.(346-348)ATT>TTT p.I116F NDUFAF4_uc003pov.2_RNA NM_014165 NP_054884 Q9P032 NDUF4_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 116 mitochondrial respiratory chain complex I assembly mitochondrial membrane calmodulin binding ovary(1) 1 GCTTCTACAATGGAAATTTTG 0.373 15 36 --- --- --- --- PASS AMD1 262 broad.mit.edu 37 6 111214269 111214269 + Splice_Site SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:111214269G>A uc003puk.1 + 8 1186 c.864_splice c.e8+1 p.Q288_splice AMD1_uc011eay.1_Splice_Site_p.Q219_splice|AMD1_uc011eaz.1_Splice_Site_p.Q259_splice|AMD1_uc011eba.1_Splice_Site_p.Q168_splice|AMD1_uc003pul.1_Splice_Site_p.Q140_splice NM_001634 NP_001625 P17707 DCAM_HUMAN adenosylmethionine decarboxylase 1 isoform 1 spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity upper_aerodigestive_tract(1) 1 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) TGTTAATCAGGtaattttata 0.323 16 36 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117246638 117246638 + Silent SNP T A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:117246638T>A uc003pxm.2 + 16 1764 c.1701T>A c.(1699-1701)ACT>ACA p.T567T NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 567 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 CTGCTTTCACTGCTTCTCCGA 0.418 40 108 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129468139 129468139 + Silent SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:129468139G>C uc003qbn.2 + 6 960 c.855G>C c.(853-855)GGG>GGC p.G285G LAMA2_uc003qbo.2_Silent_p.G285G NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 285 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CAGTTGGAGGGATGTGCATCT 0.433 60 148 --- --- --- --- PASS SAMD3 154075 broad.mit.edu 37 6 130505655 130505655 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:130505655G>C uc003qbv.2 - 7 823 c.497C>G c.(496-498)CCG>CGG p.P166R SAMD3_uc003qbx.2_Missense_Mutation_p.P166R|SAMD3_uc003qbw.2_Missense_Mutation_p.P166R|SAMD3_uc010kfg.1_Missense_Mutation_p.P166R|SAMD3_uc003qby.2_Missense_Mutation_p.P166R|SAMD3_uc003qbz.1_Missense_Mutation_p.P125R NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 166 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GCTGTGATCCGGGCACTTCTG 0.458 21 55 --- --- --- --- PASS HIVEP2 3097 broad.mit.edu 37 6 143094043 143094043 + Silent SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:143094043A>G uc003qjd.2 - 5 2576 c.1833T>C c.(1831-1833)CAT>CAC p.H611H NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 611 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) ACATCCTGCCATGGTGCTCGA 0.542 81 115 --- --- --- --- PASS TAGAP 117289 broad.mit.edu 37 6 159462507 159462507 + Missense_Mutation SNP T G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:159462507T>G uc003qrz.2 - 6 688 c.356A>C c.(355-357)GAA>GCA p.E119A TAGAP_uc011eft.1_Missense_Mutation_p.E56A|TAGAP_uc003qsa.2_5'UTR|TAGAP_uc003qsb.2_Missense_Mutation_p.E119A|uc003qsc.2_5'Flank NM_054114 NP_473455 Q8N103 TAGAP_HUMAN T-cell activation Rho GTPase-activating protein 119 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) GAATATCCCTTCCGTTGAAGG 0.498 11 41 --- --- --- --- PASS FERD3L 222894 broad.mit.edu 37 7 19184904 19184904 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr7:19184904G>T uc003suo.1 - 1 141 c.82C>A c.(82-84)CCT>ACT p.P28T uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 28 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 CAGAGGAGAGGGCGTCTCGGG 0.642 27 62 --- --- --- --- PASS KBTBD2 25948 broad.mit.edu 37 7 32909450 32909450 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr7:32909450G>T uc003tdb.2 - 4 2038 c.1379C>A c.(1378-1380)TCC>TAC p.S460Y AVL9_uc011kai.1_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 460 Kelch 3. 0 GBM - Glioblastoma multiforme(11;0.0499) TGAAGCAAAGGACCTACTAGT 0.428 10 85 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43484785 43484785 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr7:43484785G>T uc003tid.1 + 11 2619 c.2014G>T c.(2014-2016)GGC>TGC p.G672C HECW1_uc011kbi.1_Missense_Mutation_p.G672C NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 672 Cys-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CAGTTGCGAGGGCTGTGACGC 0.687 22 39 --- --- --- --- PASS POM121L12 285877 broad.mit.edu 37 7 53103631 53103631 + Silent SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr7:53103631G>A uc003tpz.2 + 1 283 c.267G>A c.(265-267)CCG>CCA p.P89P NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 89 0 CCGCCAAGCCGCAGCGGGTGG 0.697 8 22 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82581908 82581908 + Silent SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr7:82581908A>T uc003uhx.2 - 5 8650 c.8361T>A c.(8359-8361)CCT>CCA p.P2787P PCLO_uc003uhv.2_Silent_p.P2787P|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2718 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CCAGAGATACAGGAGTCACTA 0.428 18 62 --- --- --- --- PASS CROT 54677 broad.mit.edu 37 7 87005150 87005150 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr7:87005150G>C uc003uit.2 + 9 1002 c.757G>C c.(757-759)GAA>CAA p.E253Q CROT_uc003uiu.2_Missense_Mutation_p.E281Q NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 253 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TTAGGCACGAGAATATCTGAT 0.353 16 42 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88964013 88964013 + Silent SNP T C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr7:88964013T>C uc011khi.1 + 4 2255 c.1717T>C c.(1717-1719)TTG>CTG p.L573L NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 573 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TGCAAATGATTTGGAAATGAA 0.353 HNSCC(36;0.09) 19 29 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103191531 103191531 + Silent SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr7:103191531C>T uc003vca.2 - 41 6445 c.6285G>A c.(6283-6285)GGG>GGA p.G2095G RELN_uc010liz.2_Silent_p.G2095G NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2095 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGTGCAGCTTCCCAAAGTGCA 0.542 16 25 --- --- --- --- PASS SLC26A4 5172 broad.mit.edu 37 7 107338519 107338519 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr7:107338519G>T uc003vep.2 + 14 1801 c.1577G>T c.(1576-1578)AGC>ATC p.S526I SLC26A4_uc011kmb.1_Missense_Mutation_p.S113I|SLC26A4_uc011kmc.1_Missense_Mutation_p.S87I|SLC26A4_uc011kmd.1_Missense_Mutation_p.S95I NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 526 Cytoplasmic (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 AGCATCCCTAGCACAGATATC 0.378 Pendred_syndrome 7 50 --- --- --- --- PASS FEZF1 389549 broad.mit.edu 37 7 121943744 121943744 + Nonsense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr7:121943744G>A uc003vkd.2 - 1 822 c.748C>T c.(748-750)CGA>TGA p.R250* FEZF1_uc003vkc.2_Nonsense_Mutation_p.R200*|uc010lko.1_RNA|uc003vkf.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 250 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 GGAGAGCCTCGGCTGAAATCC 0.438 20 159 --- --- --- --- PASS ZNF425 155054 broad.mit.edu 37 7 148801944 148801944 + Missense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr7:148801944C>A uc003wfj.2 - 4 1092 c.1019G>T c.(1018-1020)CGC>CTC p.R340L NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 340 C2H2-type 5. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCTCTTCAGGCGGAAGCACCG 0.662 15 48 --- --- --- --- PASS ARHGEF10 9639 broad.mit.edu 37 8 1846692 1846692 + Splice_Site SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr8:1846692G>C uc003wpr.2 + 15 1828 c.1650_splice c.e15+1 p.Q550_splice ARHGEF10_uc003wpq.1_Splice_Site_p.Q574_splice|ARHGEF10_uc003wps.2_Splice_Site_p.Q512_splice|ARHGEF10_uc003wpt.2_Splice_Site_p.Q426_splice|ARHGEF10_uc003wpv.2_Splice_Site_p.Q283_splice|ARHGEF10_uc010lre.2_Splice_Site_p.Q230_splice NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CCTGCTCCAGGTAAGTGCTTC 0.572 9 22 --- --- --- --- PASS TNKS 8658 broad.mit.edu 37 8 9623794 9623794 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr8:9623794G>A uc003wss.2 + 25 3604 c.3599G>A c.(3598-3600)CGA>CAA p.R1200Q TNKS_uc011kww.1_Missense_Mutation_p.R963Q NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 1200 PARP catalytic. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) TTTGATGAGCGACATGCATAC 0.383 37 91 --- --- --- --- PASS SLC18A1 6570 broad.mit.edu 37 8 20036923 20036923 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr8:20036923G>T uc011kyq.1 - 4 668 c.197C>A c.(196-198)GCC>GAC p.A66D SLC18A1_uc003wzm.2_Missense_Mutation_p.A66D|SLC18A1_uc011kyr.1_Missense_Mutation_p.A66D|SLC18A1_uc003wzn.2_Missense_Mutation_p.A66D|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.A66D NM_001135691 NP_001129163 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine), 66 Lumenal, vesicle (Potential). neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity ovary(2) 2 Colorectal(74;0.0747) GGAACTTCCGGCATGGCCGAG 0.512 16 46 --- --- --- --- PASS ELP3 55140 broad.mit.edu 37 8 27989839 27989839 + Missense_Mutation SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr8:27989839A>G uc003xgo.3 + 9 972 c.824A>G c.(823-825)AAA>AGA p.K275R ELP3_uc003xgn.3_Missense_Mutation_p.K260R|ELP3_uc011laq.1_Missense_Mutation_p.K203R|ELP3_uc011lar.1_Missense_Mutation_p.K183R|ELP3_uc011las.1_Missense_Mutation_p.K156R|ELP3_uc011lat.1_Missense_Mutation_p.K156R NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN elongation protein 3 homolog 275 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding 0 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) CACCTGGCCAAAGATTCCGGT 0.453 9 27 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39602414 39602414 + Splice_Site SNP T A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr8:39602414T>A uc003xnj.2 - 20 2250 c.2175_splice c.e20-1 p.E725_splice ADAM2_uc003xnk.2_Splice_Site_p.E706_splice|ADAM2_uc011lck.1_Splice_Site_p.E662_splice|ADAM2_uc003xnl.2_Splice_Site_p.E569_splice NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCAGGTTGCCTGCatattaaa 0.294 12 47 --- --- --- --- PASS C8orf22 492307 broad.mit.edu 37 8 49986797 49986797 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr8:49986797G>C uc003xqq.3 + 4 321 c.138G>C c.(136-138)TTG>TTC p.L46F NM_001007176 NP_001007177 Q8WWR9 PDPFL_HUMAN hypothetical protein LOC492307 46 0 all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TAATAGGGTTGCCTGAAGTGG 0.333 14 25 --- --- --- --- PASS TERF1 7013 broad.mit.edu 37 8 73926132 73926132 + Missense_Mutation SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr8:73926132A>G uc003xzd.2 + 2 347 c.322A>G c.(322-324)ATT>GTT p.I108V TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Missense_Mutation_p.I108V NM_017489 NP_059523 P54274 TERF1_HUMAN telomeric repeat binding factor 1 isoform 1 108 TRFH dimerization. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding ovary(1)|lung(1)|skin(1) 3 Breast(64;0.218) Epithelial(68;0.0984) TTTTTTAGCTATTATTCATGG 0.323 6 19 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87591048 87591048 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr8:87591048G>T uc003ydx.2 - 17 2018 c.1972C>A c.(1972-1974)CCA>ACA p.P658T CNGB3_uc010maj.2_Missense_Mutation_p.P515T NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 658 Cytoplasmic (Potential).|cGMP (By similarity). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TCTTTTCTTGGAGGGGTTGCT 0.458 29 78 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113304884 113304884 + Silent SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr8:113304884C>A uc003ynu.2 - 55 8829 c.8670G>T c.(8668-8670)GGG>GGT p.G2890G CSMD3_uc003yns.2_Silent_p.G2092G|CSMD3_uc003ynt.2_Silent_p.G2850G|CSMD3_uc011lhx.1_Silent_p.G2721G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2890 Extracellular (Potential).|Sushi 19. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TAAAGTTGAACCCATTTCCAC 0.448 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 67 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143560803 143560803 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr8:143560803G>A uc003ywm.2 + 7 1864 c.1681G>A c.(1681-1683)GGC>AGC p.G561S NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 561 Extracellular (Potential).|TSP type-1 5. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) AGCCTGCCAGGGCCCCCAGGA 0.711 5 11 --- --- --- --- PASS TEK 7010 broad.mit.edu 37 9 27229204 27229204 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr9:27229204G>C uc003zqi.3 + 23 3791 c.3349G>C c.(3349-3351)GAC>CAC p.D1117H TEK_uc011lno.1_Missense_Mutation_p.D1074H|TEK_uc011lnp.1_Missense_Mutation_p.D969H NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 1117 Cytoplasmic (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TGCAGGAATTGACTGTTCTGC 0.458 41 64 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90502148 90502148 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr9:90502148G>T uc004app.3 + 4 2781 c.2746G>T c.(2746-2748)GTG>TTG p.V916L C9orf79_uc004apo.1_Missense_Mutation_p.V728L NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 916 integral to membrane ovary(3) 3 AGTCCCGACCGTGAGTGGCCC 0.587 9 51 --- --- --- --- PASS TRIM14 9830 broad.mit.edu 37 9 100881413 100881413 + Missense_Mutation SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr9:100881413A>G uc004ayd.2 - 1 76 c.58T>C c.(58-60)TGC>CGC p.C20R TRIM14_uc004ayf.1_5'UTR|TRIM14_uc004ayg.1_Missense_Mutation_p.C20R|TRIM14_uc004ayh.1_Missense_Mutation_p.C20R|TRIM14_uc004ayi.1_Missense_Mutation_p.C20R|TRIM14_uc004ayj.1_5'UTR NM_033220 NP_150089 Q14142 TRI14_HUMAN tripartite motif protein TRIM14 isoform alpha 20 B box-type. cytoplasm|intracellular zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.0559) CGCCAGCCGCATCCCTCGACA 0.746 9 25 --- --- --- --- PASS SURF2 6835 broad.mit.edu 37 9 136226846 136226846 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr9:136226846G>T uc004cdi.2 + 4 406 c.358G>T c.(358-360)GGG>TGG p.G120W NM_017503 NP_059973 Q15527 SURF2_HUMAN surfeit 2 120 protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) TCAGAAGCAAGGGGTGGAGTA 0.637 5 23 --- --- --- --- PASS ATP5C1 509 broad.mit.edu 37 10 7844746 7844746 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr10:7844746G>C uc001iju.2 + 8 897 c.819G>C c.(817-819)TTG>TTC p.L273F ATP5C1_uc009xiq.1_Missense_Mutation_p.L273F|ATP5C1_uc010qbc.1_Missense_Mutation_p.L224F|ATP5C1_uc001ijv.2_Missense_Mutation_p.L273F NM_001001973 NP_001001973 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 273 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 AATTGACATTGACATTCAACC 0.368 23 71 --- --- --- --- PASS ST8SIA6 338596 broad.mit.edu 37 10 17432531 17432531 + Missense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr10:17432531C>A uc001ipd.2 - 3 289 c.289G>T c.(289-291)GGG>TGG p.G97W ST8SIA6_uc010qce.1_RNA|uc001ipe.2_Intron|uc001ipf.1_Intron NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 97 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 AGAACTTACCCTTTCGTTTTG 0.363 14 114 --- --- --- --- PASS SPAG6 9576 broad.mit.edu 37 10 22653832 22653832 + Missense_Mutation SNP C G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr10:22653832C>G uc001iri.2 + 3 314 c.172C>G c.(172-174)CAA>GAA p.Q58E SPAG6_uc001irj.2_Missense_Mutation_p.Q58E|SPAG6_uc010qct.1_Missense_Mutation_p.Q28E|SPAG6_uc009xkh.2_Missense_Mutation_p.Q36E NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 58 ARM 1. cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 CCCAACAATTCAACAGACTGC 0.393 16 52 --- --- --- --- PASS BMS1 9790 broad.mit.edu 37 10 43318687 43318687 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr10:43318687G>T uc001jaj.2 + 20 3612 c.3254G>T c.(3253-3255)AGC>ATC p.S1085I NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 1085 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 TTCAGGGCCAGCTTTGAGGAT 0.517 31 83 --- --- --- --- PASS GDF10 2662 broad.mit.edu 37 10 48429451 48429451 + Silent SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr10:48429451C>T uc001jfb.2 - 2 891 c.435G>A c.(433-435)GCG>GCA p.A145A GDF10_uc009xnp.2_Silent_p.A144A|GDF10_uc009xnq.1_Silent_p.A145A NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 145 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 GCACCTCGAGCGCTCGAGGCC 0.632 9 21 --- --- --- --- PASS C10orf27 219793 broad.mit.edu 37 10 72531216 72531216 + Silent SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr10:72531216C>T uc001jrj.1 - 11 1362 c.972G>A c.(970-972)GAG>GAA p.E324E C10orf27_uc010qjm.1_Silent_p.E325E|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Silent_p.E323E NM_152710 NP_689923 Q96M53 SPATL_HUMAN stromal protein associated with thymii and lymph 324 cell differentiation|multicellular organismal development|spermatogenesis cytosol skin(1) 1 CTCCAATGTACTCTAGTGGGA 0.582 14 109 --- --- --- --- PASS TMEM20 159371 broad.mit.edu 37 10 95660927 95660927 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr10:95660927G>A uc001kjg.1 + 3 839 c.778G>A c.(778-780)GTA>ATA p.V260I TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.V259I|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.V243I|TMEM20_uc001kjj.2_Intron NM_001134658 NP_001128130 Q2M3R5 TMM20_HUMAN transmembrane protein 20 isoform 1 260 DUF6 2.|Helical; (Potential). integral to membrane upper_aerodigestive_tract(1) 1 Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189) STAD - Stomach adenocarcinoma(243;0.00345) GTATTATGTAGTACTTGGCCT 0.433 21 106 --- --- --- --- PASS SFRP5 6425 broad.mit.edu 37 10 99527577 99527577 + Silent SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr10:99527577C>T uc001kor.3 - 3 814 c.648G>A c.(646-648)GGG>GGA p.G216G NM_003015 NP_003006 Q5T4F7 SFRP5_HUMAN secreted frizzled-related protein 5 precursor 216 NTR. apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception cytoplasm|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 Colorectal(252;0.234) Epithelial(162;4.98e-10)|all cancers(201;3.58e-08) GCTTCCGGTCCCCATTCTCTA 0.542 31 84 --- --- --- --- PASS GPAM 57678 broad.mit.edu 37 10 113915650 113915650 + Silent SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr10:113915650G>T uc009xxy.1 - 20 2481 c.2283C>A c.(2281-2283)ACC>ACA p.T761T GPAM_uc001kzp.2_Silent_p.T761T|GPAM_uc001kzq.1_3'UTR NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN mitochondrial glycerol 3-phosphate 761 Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential). phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity ovary(1)|skin(1) 2 Epithelial(162;0.0306)|all cancers(201;0.123) TTTCTGTTCTGGTTATTAGGT 0.348 7 44 --- --- --- --- PASS PTPRE 5791 broad.mit.edu 37 10 129875936 129875936 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr10:129875936G>T uc001lkb.2 + 19 2060 c.1781G>T c.(1780-1782)GGC>GTC p.G594V PTPRE_uc009yat.2_Missense_Mutation_p.G605V|PTPRE_uc009yau.2_Missense_Mutation_p.G594V|PTPRE_uc001lkd.2_Missense_Mutation_p.G536V|PTPRE_uc010quq.1_Missense_Mutation_p.G495V NM_006504 NP_006495 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 594 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(1) 1 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CACTTCCACGGCTGGCCTGAG 0.662 15 36 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1268821 1268821 + Missense_Mutation SNP T A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr11:1268821T>A uc009ycr.1 + 50 12421 c.12295T>A c.(12295-12297)TGT>AGT p.C4099S MUC5B_uc001ltb.2_Missense_Mutation_p.C3574S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3571 7 X Cys-rich subdomain repeats.|Cys-rich subdomain 6.|Thr-rich.|HAT 2. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GACCACGGGCTGTGAGCCCCA 0.667 20 48 --- --- --- --- PASS CARS 833 broad.mit.edu 37 11 3047975 3047975 + Nonsense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr11:3047975C>A uc001lxh.2 - 9 909 c.835G>T c.(835-837)GAG>TAG p.E279* CARS_uc001lxe.2_Nonsense_Mutation_p.E269*|CARS_uc001lxf.2_Nonsense_Mutation_p.E362*|CARS_uc001lxg.2_Nonsense_Mutation_p.E279*|CARS_uc010qxo.1_Nonsense_Mutation_p.E362*|CARS_uc010qxp.1_Nonsense_Mutation_p.E292*|uc001lxi.1_5'Flank NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 279 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) GAGTGCTTCTCGCTAGAAGCA 0.517 T ALK ALCL 43 89 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22261155 22261155 + Missense_Mutation SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr11:22261155A>G uc001mqi.2 + 9 1120 c.803A>G c.(802-804)AAT>AGT p.N268S ANO5_uc001mqj.2_Missense_Mutation_p.N267S NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 268 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 AATCCTACCAATGAAAGATAC 0.408 36 113 --- --- --- --- PASS LGR4 55366 broad.mit.edu 37 11 27390517 27390517 + Silent SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr11:27390517A>G uc001mrj.3 - 18 2238 c.1753T>C c.(1753-1755)TTA>CTA p.L585L LGR4_uc001mrk.3_Silent_p.L561L NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 585 Helical; Name=2; (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 CCCATGAATAAGTTAGACACA 0.403 25 45 --- --- --- --- PASS ACCSL 390110 broad.mit.edu 37 11 44072937 44072937 + Nonsense_Mutation SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr11:44072937C>T uc001mxw.1 + 4 744 c.688C>T c.(688-690)CGA>TGA p.R230* ACCSL_uc009ykr.2_Nonsense_Mutation_p.R49* NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 230 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 GGCACCTACCCGACTTGACCC 0.572 21 60 --- --- --- --- PASS SLC35C1 55343 broad.mit.edu 37 11 45832694 45832694 + Silent SNP G T T rs150743224 TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr11:45832694G>T uc001nbp.2 + 2 1615 c.903G>T c.(901-903)ACG>ACT p.T301T SLC35C1_uc001nbo.2_Silent_p.T288T|SLC35C1_uc010rgm.1_Silent_p.T288T NM_018389 NP_060859 Q96A29 FUCT1_HUMAN GDP-fucose transporter 1 isoform a 301 Golgi membrane|integral to membrane GDP-fucose transmembrane transporter activity 0 GBM - Glioblastoma multiforme(35;0.227) TGTCGGGCACGGCCAAGGCCT 0.607 23 57 --- --- --- --- PASS OR5L1 219437 broad.mit.edu 37 11 55579417 55579417 + Missense_Mutation SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr11:55579417C>T uc001nhw.1 + 1 475 c.475C>T c.(475-477)CAT>TAT p.H159Y NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TTCTCTGATTCATTTGTGCTT 0.443 11 194 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587891 55587891 + Silent SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr11:55587891G>T uc010rin.1 + 1 786 c.786G>T c.(784-786)GTG>GTT p.V262V NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TTTACTGTGTGCCCAACTCCA 0.527 22 58 --- --- --- --- PASS MYEOV 26579 broad.mit.edu 37 11 69062910 69062910 + Missense_Mutation SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr11:69062910C>T uc001oov.2 + 2 539 c.89C>T c.(88-90)TCC>TTC p.S30F MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.S30F|MYEOV_uc001oow.2_5'UTR NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 30 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) cagtctccctcctggtgtcAT 0.264 32 101 --- --- --- --- PASS P4HA3 283208 broad.mit.edu 37 11 74000142 74000142 + Silent SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr11:74000142G>T uc001ouz.2 - 5 794 c.751C>A c.(751-753)CGG>AGG p.R251R P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Silent_p.R251R NM_182904 NP_878907 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha III subunit 251 TPR. endoplasmic reticulum lumen 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 skin(1) 1 Breast(11;2.31e-05) agaaactcccgagagaggctg 0.244 5 4 --- --- --- --- PASS USP35 57558 broad.mit.edu 37 11 77920699 77920699 + Missense_Mutation SNP T G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr11:77920699T>G uc009yva.1 + 10 2044 c.1798T>G c.(1798-1800)TTC>GTC p.F600V USP35_uc001oze.2_Missense_Mutation_p.F356V|USP35_uc001ozc.2_Missense_Mutation_p.F168V|USP35_uc010rsp.1_Missense_Mutation_p.F32V|USP35_uc001ozd.2_Missense_Mutation_p.F211V|USP35_uc001ozf.2_Missense_Mutation_p.F331V NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 600 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CTCTCTCGCCTTCCCTCCTCC 0.622 31 94 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 120984356 120984356 + Missense_Mutation SNP A C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr11:120984356A>C uc010rzo.1 + 5 719 c.719A>C c.(718-720)AAT>ACT p.N240T NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 240 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACAAACGTCAATGTTCCAGGC 0.512 14 35 --- --- --- --- PASS TULP3 7289 broad.mit.edu 37 12 3031460 3031460 + Missense_Mutation SNP G T T rs148720872 TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr12:3031460G>T uc010seh.1 + 4 367 c.286G>T c.(286-288)GAC>TAC p.D96Y TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.D96Y|TULP3_uc010sei.1_5'UTR NM_003324 NP_003315 O75386 TULP3_HUMAN tubby like protein 3 isoform 1 96 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CCTGAAACCAGACGAAGTTCA 0.438 38 132 --- --- --- --- PASS GNB3 2784 broad.mit.edu 37 12 6950762 6950762 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr12:6950762G>C uc001qrd.2 + 4 475 c.70G>C c.(70-72)GCC>CCC p.A24P GNB3_uc001qrc.2_5'UTR|GNB3_uc009zfe.2_Missense_Mutation_p.A24P NM_002075 NP_002066 P16520 GBB3_HUMAN guanine nucleotide-binding protein, beta-3 24 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity 0 TGCCAGGAAAGCCTGTGCTGA 0.652 5 32 --- --- --- --- PASS RIMKLB 57494 broad.mit.edu 37 12 8906573 8906573 + Missense_Mutation SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr12:8906573A>T uc001quu.2 + 5 832 c.581A>T c.(580-582)AAG>ATG p.K194M RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.K194M|RIMKLB_uc010sgl.1_Missense_Mutation_p.K194M|RIMKLB_uc001quw.2_Missense_Mutation_p.K194M NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 194 ATP-grasp.|ATP (By similarity). protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 CTGTTCCAGAAGTATGTTAAA 0.458 21 53 --- --- --- --- PASS PIK3C2G 5288 broad.mit.edu 37 12 18691193 18691193 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr12:18691193G>T uc001rdt.2 + 24 3420 c.3304G>T c.(3304-3306)GCT>TCT p.A1102S PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.A1143S|PIK3C2G_uc010sic.1_Missense_Mutation_p.A921S NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 1102 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) TTGCTGTCGTGCTTATAATAT 0.373 18 44 --- --- --- --- PASS LST-3TM12 338821 broad.mit.edu 37 12 21207463 21207463 + Silent SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr12:21207463A>T uc010sin.1 + 10 1434 c.1434A>T c.(1432-1434)CCA>CCT p.P478P SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.P525P NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 478 membrane transporter activity 0 GTGAATGCCCAAGAGATGATG 0.368 17 30 --- --- --- --- PASS TROAP 10024 broad.mit.edu 37 12 49725031 49725031 + Silent SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr12:49725031G>A uc001rtx.3 + 14 2300 c.2133G>A c.(2131-2133)CTG>CTA p.L711L TROAP_uc009zlh.2_Silent_p.L801L|TROAP_uc001rty.2_Silent_p.L390L NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 711 cell adhesion cytoplasm ovary(1) 1 CCCTAGCCCTGAGGGAGCGCC 0.577 17 53 --- --- --- --- PASS RFX4 5992 broad.mit.edu 37 12 107103138 107103138 + Silent SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr12:107103138G>A uc001tlr.2 + 9 930 c.864G>A c.(862-864)AAG>AAA p.K288K RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Silent_p.K297K|RFX4_uc001tlt.2_Silent_p.K297K|RFX4_uc001tlv.2_Silent_p.K194K NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 288 transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 AGTTTGCCAAGCAACTGGATG 0.473 16 32 --- --- --- --- PASS MED13L 23389 broad.mit.edu 37 12 116675334 116675334 + Silent SNP T C C rs138672862 TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr12:116675334T>C uc001tvw.2 - 2 304 c.249A>G c.(247-249)TTA>TTG p.L83L NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 83 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) AGAATATCCATAACTCTTTGC 0.413 24 81 --- --- --- --- PASS CRYL1 51084 broad.mit.edu 37 13 20978773 20978773 + Splice_Site SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr13:20978773C>A uc001une.2 - 7 925 c.846_splice c.e7+1 p.Q282_splice CRYL1_uc001unf.2_Splice_Site_p.Q260_splice|CRYL1_uc001ung.2_Splice_Site_p.Q260_splice NM_015974 NP_057058 Q9Y2S2 CRYL1_HUMAN lambda-crystallin fatty acid metabolic process cytosol 3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity 0 all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244) all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061) AAGTTACATACCTGGTTAACC 0.532 35 79 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23906282 23906282 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr13:23906282G>T uc001uon.2 - 10 12322 c.11733C>A c.(11731-11733)AGC>AGA p.S3911R SACS_uc001uoo.2_Missense_Mutation_p.S3764R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3911 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TACCATCCTGGCTTGGGAGGT 0.438 44 74 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32937315 32937315 + Splice_Site SNP G A A rs81002874 TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr13:32937315G>A uc001uub.1 + 18 8204 c.7977_splice c.e18-1 p.R2659_splice NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTCACTTTTAGATATGATACG 0.328 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 14 24 --- --- --- --- PASS SIAH3 283514 broad.mit.edu 37 13 46357979 46357979 + Missense_Mutation SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr13:46357979C>T uc001vap.2 - 2 431 c.349G>A c.(349-351)GAA>AAA p.E117K NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN seven in absentia homolog 3 117 SIAH-type; degenerate. multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding ovary(1)|skin(1) 2 AGGCGGCCTTCCCACTGGCAG 0.562 25 56 --- --- --- --- PASS RB1 5925 broad.mit.edu 37 13 48881481 48881481 + Missense_Mutation SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr13:48881481A>G uc001vcb.2 + 2 369 c.203A>G c.(202-204)GAT>GGT p.D68G RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 68 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(13)|p.?(3) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAGATACCAGATCATGTCAGA 0.313 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 13 43 --- --- --- --- PASS ERCC5 2073 broad.mit.edu 37 13 103504584 103504584 + Nonsense_Mutation SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr13:103504584C>T uc001vpw.2 + 2 648 c.205C>T c.(205-207)CGA>TGA p.R69* ERCC5_uc001vpu.1_Nonsense_Mutation_p.R523*|ERCC5_uc010tjb.1_Nonsense_Mutation_p.R69*|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_5'UTR NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 69 N-domain. negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CTTATTTTTTCGAATTCGTCC 0.373 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 6 64 --- --- --- --- PASS COCH 1690 broad.mit.edu 37 14 31349801 31349801 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr14:31349801G>C uc001wqr.2 + 8 570 c.490G>C c.(490-492)GCA>CCA p.A164P COCH_uc001wqp.2_Missense_Mutation_p.A164P|COCH_uc001wqq.3_Missense_Mutation_p.A164P|uc001wqs.2_Intron|COCH_uc001wqt.1_5'UTR NM_004086 NP_004077 O43405 COCH_HUMAN cochlin precursor 164 sensory perception of sound proteinaceous extracellular matrix pancreas(1)|central_nervous_system(1)|skin(1) 3 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) AGATTGTAAAGCAGACATTGC 0.413 50 44 --- --- --- --- PASS C14orf104 55172 broad.mit.edu 37 14 50101477 50101477 + Missense_Mutation SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr14:50101477A>T uc001wws.3 - 1 472 c.391T>A c.(391-393)TAC>AAC p.Y131N SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.Y131N NM_018139 NP_060609 Q9NVR5 KTU_HUMAN kintoun isoform 1 131 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm 0 all_epithelial(31;0.0021)|Breast(41;0.0124) CGCCCCGCGTACTCGCGGCCG 0.746 Kartagener_syndrome 6 6 --- --- --- --- PASS NAA30 122830 broad.mit.edu 37 14 57858325 57858325 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr14:57858325G>C uc001xcx.3 + 2 804 c.650G>C c.(649-651)CGA>CCA p.R217P NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron NM_001011713 NP_001011713 Q147X3 NAA30_HUMAN N-acetyltransferase 12 217 N-acetyltransferase. cytoplasm peptide alpha-N-acetyltransferase activity skin(1) 1 CGATATGTCCGATATGAATCC 0.507 94 90 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64681149 64681149 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr14:64681149G>A uc001xgm.2 + 106 19524 c.19294G>A c.(19294-19296)GAA>AAA p.E6432K SYNE2_uc001xgl.2_Missense_Mutation_p.E6432K|SYNE2_uc010apy.2_Missense_Mutation_p.E2817K|SYNE2_uc001xgn.2_Missense_Mutation_p.E1394K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E402K|SYNE2_uc001xgq.2_Missense_Mutation_p.E797K|SYNE2_uc001xgr.2_Missense_Mutation_p.E215K|SYNE2_uc010tsi.1_Missense_Mutation_p.E66K|SYNE2_uc001xgs.2_Missense_Mutation_p.E66K|SYNE2_uc001xgt.2_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6432 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTCCTCTCACGAAGAGGACGA 0.627 26 22 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68238912 68238912 + Missense_Mutation SNP T A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr14:68238912T>A uc001xka.2 - 28 5475 c.5336A>T c.(5335-5337)CAT>CTT p.H1779L ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.H1779L NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1779 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) ACTAGGGGAATGTATACTGGA 0.428 3 4 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68256124 68256124 + Nonsense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr14:68256124G>A uc001xka.2 - 16 3086 c.2947C>T c.(2947-2949)CAG>TAG p.Q983* ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Nonsense_Mutation_p.Q983* NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 983 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TTCCAGAGCTGGCACTGAGAG 0.557 6 92 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68256132 68256132 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr14:68256132G>C uc001xka.2 - 16 3078 c.2939C>G c.(2938-2940)TCT>TGT p.S980C ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.S980C NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 980 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTGGCACTGAGAGCAAGCTAG 0.547 8 89 --- --- --- --- PASS STON2 85439 broad.mit.edu 37 14 81744567 81744567 + Missense_Mutation SNP T C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr14:81744567T>C uc010tvu.1 - 4 1289 c.1088A>G c.(1087-1089)TAC>TGC p.Y363C STON2_uc001xvk.1_Missense_Mutation_p.Y363C|STON2_uc010tvt.1_Missense_Mutation_p.Y160C NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 363 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) GGCATCCTGGTAGATGACAAT 0.448 63 58 --- --- --- --- PASS C14orf49 161176 broad.mit.edu 37 14 95932315 95932315 + Nonsense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr14:95932315G>A uc001yei.3 - 3 595 c.580C>T c.(580-582)CAG>TAG p.Q194* C14orf49_uc010avi.2_Nonsense_Mutation_p.Q194*|C14orf49_uc001yej.1_Nonsense_Mutation_p.Q194* NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 194 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) ATTCTCTTCTGGGCATCTTCG 0.552 42 61 --- --- --- --- PASS WDR25 79446 broad.mit.edu 37 14 100950396 100950396 + Missense_Mutation SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr14:100950396C>T uc010avx.2 + 4 1129 c.1036C>T c.(1036-1038)CAC>TAC p.H346Y WDR25_uc001yhm.2_Missense_Mutation_p.H338Y|WDR25_uc001yhn.2_Missense_Mutation_p.H346Y|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_Missense_Mutation_p.H89Y NM_001161476 NP_001154948 Q64LD2 WDR25_HUMAN WD repeat domain 25 346 WD 3. 0 Melanoma(154;0.212) TCCAAAAGACCACAACATCTT 0.408 44 86 --- --- --- --- PASS MKRN3 7681 broad.mit.edu 37 15 23811400 23811400 + Silent SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr15:23811400G>C uc001ywh.3 + 1 947 c.471G>C c.(469-471)GCG>GCC p.A157A MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.A157A NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 157 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) AGGAAGTGGCGGAAGCCCCCC 0.642 18 47 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28460816 28460816 + Missense_Mutation SNP T G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr15:28460816T>G uc001zbj.2 - 39 6267 c.6161A>C c.(6160-6162)AAG>ACG p.K2054T NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2054 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTCCACGACCTTCATGAGCAG 0.632 14 31 --- --- --- --- PASS GREM1 26585 broad.mit.edu 37 15 33023077 33023077 + Missense_Mutation SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr15:33023077A>T uc001zhe.1 + 2 345 c.186A>T c.(184-186)CAA>CAT p.Q62H GREM1_uc001zhd.1_Intron|GREM1_uc010uby.1_Intron NM_013372 NP_037504 O60565 GREM1_HUMAN gremlin-1 precursor 62 negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition extracellular space cytokine activity 0 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) GGCGGGGCCAAGGGCGGGGCA 0.662 12 43 --- --- --- --- PASS CAPN3 825 broad.mit.edu 37 15 42678366 42678366 + Silent SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr15:42678366G>T uc001zpn.1 + 3 687 c.381G>T c.(379-381)GGG>GGT p.G127G CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Silent_p.G40G|CAPN3_uc010udf.1_Silent_p.G40G|CAPN3_uc010udg.1_Silent_p.G40G|CAPN3_uc001zpo.1_Silent_p.G127G|CAPN3_uc001zpp.1_Silent_p.G127G NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 127 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) TGCCTGCAGGGGACTGCTGGT 0.562 OREG0023085 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 106 --- --- --- --- PASS CAPN3 825 broad.mit.edu 37 15 42678367 42678367 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr15:42678367G>T uc001zpn.1 + 3 688 c.382G>T c.(382-384)GAC>TAC p.D128Y CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.D41Y|CAPN3_uc010udf.1_Missense_Mutation_p.D41Y|CAPN3_uc010udg.1_Missense_Mutation_p.D41Y|CAPN3_uc001zpo.1_Missense_Mutation_p.D128Y|CAPN3_uc001zpp.1_Missense_Mutation_p.D128Y NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 128 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) GCCTGCAGGGGACTGCTGGTT 0.567 OREG0023085 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 105 --- --- --- --- PASS LCMT2 9836 broad.mit.edu 37 15 43622200 43622200 + Missense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr15:43622200C>A uc001zrg.2 - 1 692 c.488G>T c.(487-489)CGG>CTG p.R163L LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 163 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) CTGGAGCTGCCGCAAGTCCAG 0.697 33 47 --- --- --- --- PASS SPG11 80208 broad.mit.edu 37 15 44888526 44888526 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr15:44888526G>T uc001ztx.2 - 25 4220 c.4189C>A c.(4189-4191)CCA>ACA p.P1397T SPG11_uc010ueh.1_Missense_Mutation_p.P1397T|SPG11_uc010uei.1_Missense_Mutation_p.P1397T|SPG11_uc001zty.1_Missense_Mutation_p.P126T NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1397 Cytoplasmic (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TGAATGACTGGGCTGAAGTAC 0.453 19 64 --- --- --- --- PASS SPG11 80208 broad.mit.edu 37 15 44888527 44888527 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr15:44888527G>T uc001ztx.2 - 25 4219 c.4188C>A c.(4186-4188)AGC>AGA p.S1396R SPG11_uc010ueh.1_Missense_Mutation_p.S1396R|SPG11_uc010uei.1_Missense_Mutation_p.S1396R|SPG11_uc001zty.1_Missense_Mutation_p.S125R NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1396 Cytoplasmic (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GAATGACTGGGCTGAAGTACT 0.453 18 63 --- --- --- --- PASS NARG2 79664 broad.mit.edu 37 15 60768275 60768275 + Missense_Mutation SNP C A A rs145938558 TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr15:60768275C>A uc002agp.2 - 3 368 c.133G>T c.(133-135)GTT>TTT p.V45F NARG2_uc002ago.2_5'UTR|NARG2_uc010bgk.2_Missense_Mutation_p.V45F|NARG2_uc002agr.1_Missense_Mutation_p.V45F NM_024611 NP_078887 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 isoform a 45 nucleus ovary(1)|lung(1) 2 TTGGATAAAACACGTAGTTCT 0.313 10 31 --- --- --- --- PASS FAM154B 283726 broad.mit.edu 37 15 82574477 82574477 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr15:82574477G>A uc002bgv.2 + 3 340 c.271G>A c.(271-273)GAC>AAC p.D91N FAM154B_uc010unr.1_Missense_Mutation_p.D76N|FAM154B_uc010uns.1_RNA NM_001008226 NP_001008227 Q658L1 F154B_HUMAN hypothetical protein LOC283726 91 skin(2) 2 TAGAGCTTGGGACCTTCATAA 0.328 38 77 --- --- --- --- PASS OR4F15 390649 broad.mit.edu 37 15 102358599 102358599 + Silent SNP T C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr15:102358599T>C uc010uts.1 + 1 210 c.210T>C c.(208-210)GAT>GAC p.D70D NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CAATCATTGATATGGCATTTT 0.423 65 246 --- --- --- --- PASS MYH11 4629 broad.mit.edu 37 16 15818093 15818093 + Missense_Mutation SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr16:15818093G>T uc002ddy.2 - 31 4397 c.4290C>A c.(4288-4290)GAC>GAA p.D1430E MYH11_uc002ddv.2_Missense_Mutation_p.D1437E|MYH11_uc002ddw.2_Missense_Mutation_p.D1430E|MYH11_uc002ddx.2_Missense_Mutation_p.D1437E|MYH11_uc010bvg.2_Missense_Mutation_p.D1262E|NDE1_uc010uzy.1_Silent_p.S331S|NDE1_uc002dds.2_Silent_p.S331S|MYH11_uc010bvh.2_Missense_Mutation_p.D136E|NDE1_uc002ddz.1_RNA NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1430 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CAACCAGGTCGTCCAGCTCCT 0.537 T CBFB AML 14 64 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 20974654 20974654 + Missense_Mutation SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr16:20974654A>G uc010vbe.1 - 53 10552 c.10552T>C c.(10552-10554)TGT>CGT p.C3518R DNAH3_uc010vbd.1_Missense_Mutation_p.C953R NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3518 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AAAGGCGCACAGCAGCTGGAA 0.517 17 47 --- --- --- --- PASS SEPT1 1731 broad.mit.edu 37 16 30392759 30392759 + Missense_Mutation SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr16:30392759A>G uc002dxy.2 - 6 528 c.341T>C c.(340-342)TTT>TCT p.F114S SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_Missense_Mutation_p.F161S NM_052838 NP_443070 Q8WYJ6 SEPT1_HUMAN septin 1 114 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding ovary(1) 1 Colorectal(24;0.193) GTACTGCTCAAATTGCTCCTC 0.587 44 101 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49670404 49670404 + Missense_Mutation SNP C A A rs147413663 TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr16:49670404C>A uc002efs.2 - 5 2957 c.2659G>T c.(2659-2661)GGC>TGC p.G887C ZNF423_uc010vgn.1_Missense_Mutation_p.G770C NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 887 C2H2-type 21; degenerate. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) ATGTCACAGCCGTACATGGGC 0.627 16 65 --- --- --- --- PASS IRX3 79191 broad.mit.edu 37 16 54318159 54318159 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr16:54318159G>A uc002eht.1 - 3 1866 c.1450C>T c.(1450-1452)CGG>TGG p.R484W NM_024336 NP_077312 P78415 IRX3_HUMAN iroquois homeobox 3 484 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTTTCTTACCGCCTGGGCACG 0.617 6 23 --- --- --- --- PASS MT1H 4496 broad.mit.edu 37 16 56704808 56704808 + Splice_Site SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr16:56704808A>T uc002ejw.2 + 3 166 c.95_splice c.e3-2 p.S32_splice MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank NM_005951 NP_005942 P80294 MT1H_HUMAN metallothionein 1H metal ion binding|protein binding 0 CTTTTTCCCCAGGCTGCTGCT 0.622 22 99 --- --- --- --- PASS MT1H 4496 broad.mit.edu 37 16 56704809 56704809 + Splice_Site SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr16:56704809G>T uc002ejw.2 + 3 166 c.95_splice c.e3-1 p.S32_splice MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank NM_005951 NP_005942 P80294 MT1H_HUMAN metallothionein 1H metal ion binding|protein binding 0 TTTTTCCCCAGGCTGCTGCTC 0.617 22 101 --- --- --- --- PASS PLEKHG4 25894 broad.mit.edu 37 16 67316121 67316121 + Silent SNP A T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr16:67316121A>T uc002eso.3 + 8 3657 c.1122A>T c.(1120-1122)CTA>CTT p.L374L PLEKHG4_uc002esp.3_Silent_p.L181L|PLEKHG4_uc002esq.3_Silent_p.L374L|PLEKHG4_uc010cef.2_Silent_p.L374L|PLEKHG4_uc002ess.3_Silent_p.L374L|PLEKHG4_uc010ceg.2_Silent_p.L293L NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 374 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GTCAGCTGCTACAGCAGACAG 0.602 27 85 --- --- --- --- PASS PARD6A 50855 broad.mit.edu 37 16 67695950 67695950 + Missense_Mutation SNP C G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr16:67695950C>G uc002ett.2 + 3 532 c.441C>G c.(439-441)GAC>GAG p.D147E ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.D146E|PARD6A_uc002etu.2_5'UTR NM_016948 NP_058644 Q9NPB6 PAR6A_HUMAN par-6 partitioning defective 6 homolog alpha 147 Pseudo-CRIB.|Interaction with PARD3 and CDC42 (By similarity). cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CAGTCATAGACGTGGACCTAC 0.627 14 58 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577609 7577609 + Splice_Site SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr17:7577609C>A uc002gim.2 - 7 867 c.673_splice c.e7-1 p.V225_splice TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(12)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGAGCCAACCTAGGAGATAA 0.488 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 34 21 --- --- --- --- PASS ALOX15B 247 broad.mit.edu 37 17 7950907 7950907 + Silent SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr17:7950907G>T uc002gju.2 + 12 1721 c.1605G>T c.(1603-1605)CGG>CGT p.R535R ALOX15B_uc002gjv.2_Silent_p.R506R|ALOX15B_uc002gjw.2_Silent_p.R461R|ALOX15B_uc010vun.1_Silent_p.R523R|ALOX15B_uc010cnp.2_Silent_p.R341R NM_001141 NP_001132 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, second type 535 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity ovary(1) 1 TGGAGACCCGGGAAGCCCTGG 0.632 7 6 --- --- --- --- PASS NEK8 284086 broad.mit.edu 37 17 27064993 27064993 + Missense_Mutation SNP G T T rs140363905 byFrequency TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr17:27064993G>T uc002hcp.2 + 7 1046 c.1046G>T c.(1045-1047)CGC>CTC p.R349L NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 349 RCC1 1. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) GGCGTCACGCGCTCTGGGCGT 0.701 19 50 --- --- --- --- PASS PIP4K2B 8396 broad.mit.edu 37 17 36940564 36940564 + Missense_Mutation SNP T G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr17:36940564T>G uc002hqs.2 - 3 767 c.286A>C c.(286-288)AAG>CAG p.K96Q PIP4K2B_uc010wdt.1_Missense_Mutation_p.K96Q|PIP4K2B_uc010wdu.1_Missense_Mutation_p.K32Q NM_003559 NP_003550 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 96 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity ovary(1) 1 CAATACTCCTTAAACTTAAAG 0.433 14 34 --- --- --- --- PASS UNK 85451 broad.mit.edu 37 17 73780747 73780747 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr17:73780747G>A uc002jpm.2 + 1 67 c.67G>A c.(67-69)GAT>AAT p.D23N UNK_uc002jpn.2_5'Flank|UNK_uc002jpo.2_5'Flank NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN zinc finger CCCH-type domain containing 5 Error:Variant_position_missing_in_Q9C0B0_after_alignment nucleic acid binding|zinc ion binding 0 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) TAGCAGCAAGGATCCCTGGGT 0.562 4 14 --- --- --- --- PASS C19orf26 255057 broad.mit.edu 37 19 1235847 1235847 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr19:1235847G>A uc002lrm.2 - 3 433 c.158C>T c.(157-159)ACG>ATG p.T53M NM_152769 NP_689982 Q8N350 DOS_HUMAN downstream of Stk11 53 Helical; (Potential). integral to membrane 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACCACCAGCGTGCCCCCCAC 0.677 HNSCC(14;0.022) 38 70 --- --- --- --- PASS CD209 30835 broad.mit.edu 37 19 7812232 7812232 + Silent SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr19:7812232G>A uc002mht.2 - 2 133 c.66C>T c.(64-66)GGC>GGT p.G22G CD209_uc010xju.1_Silent_p.G22G|CD209_uc010dvp.2_Silent_p.G22G|CD209_uc002mhr.2_Silent_p.G22G|CD209_uc002mhs.2_Silent_p.G22G|CD209_uc002mhu.2_Silent_p.G22G|CD209_uc010dvq.2_Silent_p.G22G|CD209_uc002mhq.2_Silent_p.G22G|CD209_uc002mhv.2_Silent_p.G22G|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Silent_p.G22G NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 22 Cytoplasmic (Probable). 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 skin(1) 1 GGAATCCAAGGCCTCTCAGCT 0.443 133 416 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9084935 9084935 + Missense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr19:9084935C>A uc002mkp.2 - 1 7084 c.6880G>T c.(6880-6882)GAT>TAT p.D2294Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2294 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTCATCCAATCCCCAGGAATA 0.458 8 15 --- --- --- --- PASS DAND5 199699 broad.mit.edu 37 19 13084218 13084218 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr19:13084218G>A uc002mwc.1 + 2 383 c.340G>A c.(340-342)GGC>AGC p.G114S DAND5_uc010dyz.1_3'UTR NM_152654 NP_689867 Q8N907 DAND5_HUMAN dante precursor 114 CTCK. extracellular region ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) CTCCCGGCCCGGCTGCTCAGC 0.617 29 81 --- --- --- --- PASS CPAMD8 27151 broad.mit.edu 37 19 17122287 17122287 + Missense_Mutation SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr19:17122287G>A uc002nfb.2 - 5 646 c.614C>T c.(613-615)CCT>CTT p.P205L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 158 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 CTCGTTGACAGGCCTCAGATT 0.572 40 101 --- --- --- --- PASS CAPN12 147968 broad.mit.edu 37 19 39230753 39230753 + Missense_Mutation SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr19:39230753C>T uc002ojd.1 - 5 976 c.667G>A c.(667-669)GGG>AGG p.G223R NM_144691 NP_653292 Q6ZSI9 CAN12_HUMAN calpain 12 223 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GAGAACAGCCCCATGCTGTTT 0.627 16 32 --- --- --- --- PASS LGALS14 56891 broad.mit.edu 37 19 40199883 40199883 + Missense_Mutation SNP C A A rs141177809 by1000genomes TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr19:40199883C>A uc002omg.2 + 4 573 c.350C>A c.(349-351)CCG>CAG p.P117Q LGALS14_uc002omf.2_Missense_Mutation_p.P146Q NM_020129 NP_064514 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 isoform 117 Galectin. nucleus sugar binding ovary(1)|skin(1) 2 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) CATCGATTCCCGCCAGCATCT 0.463 11 40 --- --- --- --- PASS MEGF8 1954 broad.mit.edu 37 19 42880163 42880163 + Missense_Mutation SNP G T T rs148860986 TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr19:42880163G>T uc002otl.3 + 41 8208 c.7573G>T c.(7573-7575)GTG>TTG p.V2525L MEGF8_uc002otm.3_Missense_Mutation_p.V2133L|MEGF8_uc002otn.3_Missense_Mutation_p.V186L NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2592 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GGTCCGCGGCGTGCGGGACCG 0.692 8 52 --- --- --- --- PASS GRWD1 83743 broad.mit.edu 37 19 48953722 48953722 + Missense_Mutation SNP C G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr19:48953722C>G uc002pjd.2 + 4 854 c.621C>G c.(619-621)ATC>ATG p.I207M NM_031485 NP_113673 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 207 nucleolus ovary(1) 1 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) TGAAGCCCATCTTCTCCTTCG 0.667 32 85 --- --- --- --- PASS PIH1D1 55011 broad.mit.edu 37 19 49949859 49949859 + Silent SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr19:49949859C>A uc002pns.2 - 8 1064 c.780G>T c.(778-780)CCG>CCT p.P260P uc002pnr.1_5'Flank NM_017916 NP_060386 Q9NWS0 PIHD1_HUMAN NOP17 260 box C/D snoRNP assembly pre-snoRNP complex 0 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) TGATCTGCAGCGGGATATAAG 0.627 34 101 --- --- --- --- PASS LILRB4 11006 broad.mit.edu 37 19 55179347 55179347 + Silent SNP G A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr19:55179347G>A uc002qgp.2 + 12 1586 c.1224G>A c.(1222-1224)CAG>CAA p.Q408Q LILRB4_uc002qgq.2_Silent_p.Q407Q|LILRB4_uc002qgr.2_Silent_p.Q450Q|LILRB4_uc010ert.2_Silent_p.Q449Q|LILRB4_uc010eru.2_Silent_p.Q438Q NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 408 Cytoplasmic (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) AAGCCCCCCAGGATGTGACCT 0.642 32 88 --- --- --- --- PASS ZNF544 27300 broad.mit.edu 37 19 58772270 58772270 + Missense_Mutation SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr19:58772270A>G uc010euo.2 + 7 772 c.298A>G c.(298-300)AGG>GGG p.R100G ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.R72G|ZNF544_uc010yhy.1_Missense_Mutation_p.R72G|ZNF544_uc002qrt.3_5'UTR|ZNF544_uc002qru.3_5'UTR|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) AGATCGAGCTAGGGAAGAACT 0.443 9 18 --- --- --- --- PASS C20orf54 113278 broad.mit.edu 37 20 746322 746322 + Nonsense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr20:746322C>A uc002wed.3 - 2 436 c.97G>T c.(97-99)GAG>TAG p.E33* C20orf54_uc002wee.2_Nonsense_Mutation_p.E33* NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN hypothetical protein LOC113278 precursor 33 sensory perception of sound integral to plasma membrane riboflavin transporter activity ovary(2) 2 TCGGGCAGCTCCATCACCAGC 0.647 11 23 --- --- --- --- PASS EPB41L1 2036 broad.mit.edu 37 20 34797497 34797497 + Missense_Mutation SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr20:34797497G>C uc002xfb.2 + 15 1927 c.1756G>C c.(1756-1758)GAC>CAC p.D586H EPB41L1_uc002xeu.2_Missense_Mutation_p.D512H|EPB41L1_uc010zvo.1_Missense_Mutation_p.D586H|EPB41L1_uc002xev.2_Missense_Mutation_p.D586H|EPB41L1_uc002xew.2_Missense_Mutation_p.D477H|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.D512H|EPB41L1_uc010gfq.2_Missense_Mutation_p.D685H NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 586 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) TGAGGACCAGGACCAGGAGAG 0.607 15 36 --- --- --- --- PASS CHD6 84181 broad.mit.edu 37 20 40049481 40049481 + Missense_Mutation SNP C A A rs113050531 TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr20:40049481C>A uc002xka.1 - 31 5972 c.5794G>T c.(5794-5796)GCT>TCT p.A1932S NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1932 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GCTGCTGGAGCGGGGAAAGCC 0.498 50 106 --- --- --- --- PASS MYBL2 4605 broad.mit.edu 37 20 42328597 42328597 + Silent SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr20:42328597G>T uc002xlb.1 + 7 1079 c.864G>T c.(862-864)CTG>CTT p.L288L MYBL2_uc010zwj.1_Silent_p.L264L|MYBL2_uc002xla.1_Silent_p.L288L NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 288 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AAACGAGCCTGCCTTACAAGT 0.582 21 29 --- --- --- --- PASS KRTAP10-7 386675 broad.mit.edu 37 21 46020944 46020944 + Nonsense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr21:46020944C>A uc002zfn.3 + 2 433 c.408C>A c.(406-408)TGC>TGA p.C136* C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN keratin associated protein 10-7 141 9.|30 X 5 AA repeats of C-C-X(3). keratin filament 0 CTTCATGCTGCCAGCAGTCTA 0.617 37 120 --- --- --- --- PASS GSTT2 2953 broad.mit.edu 37 22 24323194 24323194 + Silent SNP G T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr22:24323194G>T uc002zzb.3 + 2 243 c.168G>T c.(166-168)ACG>ACT p.T56T DDT_uc002zza.3_5'Flank|GSTT2_uc002zzc.3_Silent_p.T56T NM_000854 NP_000845 P0CG30 GSTT2_HUMAN glutathione S-transferase theta 2 56 GST N-terminal. cytoplasm glutathione transferase activity 0 AACTGCCGACGCTCAAGGATG 0.557 22 172 --- --- --- --- PASS SEZ6L 23544 broad.mit.edu 37 22 26688759 26688759 + Missense_Mutation SNP C A A TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr22:26688759C>A uc003acb.2 + 2 638 c.482C>A c.(481-483)ACG>AAG p.T161K SEZ6L_uc003acc.2_Missense_Mutation_p.T161K|SEZ6L_uc011akc.1_Missense_Mutation_p.T161K|SEZ6L_uc003acd.2_Missense_Mutation_p.T161K|SEZ6L_uc011akd.1_Missense_Mutation_p.T161K|SEZ6L_uc003ace.2_Missense_Mutation_p.T161K|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 161 Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane p.T161M(1) ovary(4)|central_nervous_system(1)|pancreas(1) 6 TCCTCCTCCACGGAGAAGCCT 0.677 25 55 --- --- --- --- PASS IL2RB 3560 broad.mit.edu 37 22 37539578 37539578 + Silent SNP A G G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr22:37539578A>G uc003aqv.1 - 3 317 c.186T>C c.(184-186)CAT>CAC p.H62H NM_000878 NP_000869 P14784 IL2RB_HUMAN interleukin 2 receptor beta precursor 62 Extracellular (Potential). interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity 0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CCGGCCAGGCATGGACTTGGC 0.547 15 37 --- --- --- --- PASS AR 367 broad.mit.edu 37 X 66766596 66766596 + Silent SNP G C C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chrX:66766596G>C uc004dwu.1 + 1 2723 c.1608G>C c.(1606-1608)GGG>GGC p.G536G AR_uc011mpd.1_Silent_p.G536G|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.G536G NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 535 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GACCTTACGGGGACATGCGGT 0.572 Androgen_Insensitivity_Syndrome 7 4 --- --- --- --- PASS GLUD2 2747 broad.mit.edu 37 X 120181666 120181666 + Missense_Mutation SNP C T T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chrX:120181666C>T uc004eto.2 + 1 205 c.128C>T c.(127-129)CCG>CTG p.P43L NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 43 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) GCCTCGCAGCCGGGGCTCGCA 0.751 10 19 --- --- --- --- PASS MRPL9 65005 broad.mit.edu 37 1 151732617 151732617 + Frame_Shift_Del DEL A - - TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr1:151732617delA uc001eyv.2 - 7 798 c.713delT c.(712-714)GTGfs p.V238fs MRPL9_uc009wmz.2_RNA NM_031420 NP_113608 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 precursor 238 translation mitochondrial ribosome structural constituent of ribosome ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTCAAAGTTCACGACAGACAT 0.468 46 22 --- --- --- --- CLGN 1047 broad.mit.edu 37 4 141317098 141317098 + Frame_Shift_Del DEL C - - TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr4:141317098delC uc011chi.1 - 11 1242 c.1024delG c.(1024-1026)GAGfs p.E342fs CLGN_uc003iii.2_Frame_Shift_Del_p.E342fs NM_001130675 NP_001124147 O14967 CLGN_HUMAN calmegin precursor 342 Lumenal (Potential).|2-1. protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding ovary(2)|skin(1) 3 all_hematologic(180;0.162) TGAGGTGCCTCCCATTCTCCA 0.413 35 24 --- --- --- --- LRFN2 57497 broad.mit.edu 37 6 40360203 40360203 + Frame_Shift_Del DEL G - - TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr6:40360203delG uc003oph.1 - 3 2314 c.1849delC c.(1849-1851)CGCfs p.R617fs NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 617 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) TCACTGGCGCGGGCCAGGCTG 0.756 4 2 --- --- --- --- MFSD11 79157 broad.mit.edu 37 17 74771143 74771143 + Frame_Shift_Del DEL G - - TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr17:74771143delG uc002jta.2 + 12 1912 c.939delG c.(937-939)TTGfs p.L313fs MFSD11_uc002jtb.2_Frame_Shift_Del_p.L313fs|MFSD11_uc010dha.2_Frame_Shift_Del_p.L261fs|MFSD11_uc002jtc.2_Frame_Shift_Del_p.L313fs|MFSD11_uc002jtd.3_Frame_Shift_Del_p.L313fs|MFSD11_uc010dhb.2_Frame_Shift_Del_p.L261fs|MFSD11_uc002jte.2_Frame_Shift_Del_p.L313fs NM_024311 NP_077287 O43934 MFS11_HUMAN major facilitator superfamily domain containing 313 Helical; (Potential). integral to membrane ovary(1) 1 TTGTGCTGTTGGGCATCCTGG 0.453 173 79 --- --- --- --- PPP4R1 9989 broad.mit.edu 37 18 9583268 9583268 + Frame_Shift_Del DEL G - - TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 9bbdf36b-6804-416f-977d-fce772972bcc 82f334b9-d8be-4c5e-9a9d-1124c000cccd g.chr18:9583268delG uc002koe.1 - 9 883 c.765delC c.(763-765)CCCfs p.P255fs PPP4R1_uc010wzo.1_Intron|PPP4R1_uc002kod.1_Frame_Shift_Del_p.P238fs|PPP4R1_uc010wzp.1_RNA NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 255 HEAT 8. protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 GGAAAAATCTGGGCAGCTATG 0.398 36 19 --- --- --- ---